#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
AATK	9625	genome.wustl.edu	37	17	79094515	79094515	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr17:79094515G>C	ENST00000326724.4	-	11	3245	c.3221C>G	c.(3220-3222)tCg>tGg	p.S1074W	AATK_ENST00000417379.1_Missense_Mutation_p.S971W	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1074	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GACCAGGCCCGAGGGGCAGGT	0.716																																						dbGAP											0													5.0	6.0	6.0					17																	79094515		1751	3940	5691	-	-	-	SO:0001583	missense	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3221C>G	17.37:g.79094515G>C	ENSP00000324196:p.Ser1074Trp		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1074W	ENST00000326724.4	37	c.3221	CCDS45807.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.923377|1.923377	0.33908|0.33908	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.78126	.|-1.15	3.08|3.08	-2.0|-2.0	0.07433|0.07433	.|.	.|7.546160	.|0.00824	.|N	.|0.001615	T|T	0.59046|0.59046	0.2165|0.2165	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.56287	.|0.975	.|B	.|0.41764	.|0.366	T|T	0.55224|0.55224	-0.8174|-0.8174	5|10	.|0.66056	.|D	.|0.02	.|.	0.398|0.398	0.00421|0.00421	0.3486:0.1848:0.2795:0.1872|0.3486:0.1848:0.2795:0.1872	.|.	.|1074	.|Q6ZMQ8	.|LMTK1_HUMAN	G|W	1027|1074	.|ENSP00000324196:S1074W	.|ENSP00000324196:S1074W	R|S	-|-	1|2	2|0	AATK|AATK	76709110|76709110	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.304000|-0.304000	0.08199|0.08199	-0.532000|-0.532000	0.06332|0.06332	0.313000|0.313000	0.20887|0.20887	CGG|TCG	AATK	-	NULL	ENSG00000181409		0.716	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	12	0.00	0	G	NM_004920		79094515	79094515	-1	no_errors	ENST00000326724	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	0.000	C
AATK	9625	genome.wustl.edu	37	17	79094515	79094515	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr17:79094515G>C	ENST00000326724.4	-	11	3245	c.3221C>G	c.(3220-3222)tCg>tGg	p.S1074W	AATK_ENST00000417379.1_Missense_Mutation_p.S971W	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1074	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GACCAGGCCCGAGGGGCAGGT	0.716																																						dbGAP											0													5.0	6.0	6.0					17																	79094515		1751	3940	5691	-	-	-	SO:0001583	missense	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3221C>G	17.37:g.79094515G>C	ENSP00000324196:p.Ser1074Trp		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1074W	ENST00000326724.4	37	c.3221	CCDS45807.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.923377|1.923377	0.33908|0.33908	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.78126	.|-1.15	3.08|3.08	-2.0|-2.0	0.07433|0.07433	.|.	.|7.546160	.|0.00824	.|N	.|0.001615	T|T	0.59046|0.59046	0.2165|0.2165	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.56287	.|0.975	.|B	.|0.41764	.|0.366	T|T	0.55224|0.55224	-0.8174|-0.8174	5|10	.|0.66056	.|D	.|0.02	.|.	0.398|0.398	0.00421|0.00421	0.3486:0.1848:0.2795:0.1872|0.3486:0.1848:0.2795:0.1872	.|.	.|1074	.|Q6ZMQ8	.|LMTK1_HUMAN	G|W	1027|1074	.|ENSP00000324196:S1074W	.|ENSP00000324196:S1074W	R|S	-|-	1|2	2|0	AATK|AATK	76709110|76709110	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.304000|-0.304000	0.08199|0.08199	-0.532000|-0.532000	0.06332|0.06332	0.313000|0.313000	0.20887|0.20887	CGG|TCG	AATK	-	NULL	ENSG00000181409		0.716	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	11	0.00	0	G	NM_004920		79094515	79094515	-1	no_errors	ENST00000326724	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	0.000	C
ACTB	60	genome.wustl.edu	37	7	5567201	5567201	+	3'UTR	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr7:5567201C>T	ENST00000331789.5	-	0	1497				ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GATGCTCGCTCCAACCGACTG	0.378																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.*178G>A	7.37:g.5567201C>T			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	RNA	SNP	-	NULL	ENST00000331789.5	37	NULL	CCDS5341.1	7																																																																																			ACTB	-	-	ENSG00000075624		0.378	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	45	0.00	0	C	NM_001101		5567201	5567201	-1	no_errors	ENST00000464611	ensembl	human	known	69_37n	rna	49	19.67	12	SNP	0.999	T
ACTB	60	genome.wustl.edu	37	7	5567201	5567201	+	3'UTR	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr7:5567201C>T	ENST00000331789.5	-	0	1497				ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GATGCTCGCTCCAACCGACTG	0.378																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.*178G>A	7.37:g.5567201C>T			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	RNA	SNP	-	NULL	ENST00000331789.5	37	NULL	CCDS5341.1	7																																																																																			ACTB	-	-	ENSG00000075624		0.378	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	16	0.00	0	C	NM_001101		5567201	5567201	-1	no_errors	ENST00000464611	ensembl	human	known	69_37n	rna	49	19.67	12	SNP	0.999	T
ADAM15	8751	genome.wustl.edu	37	1	155025919	155025919	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:155025919C>G	ENST00000356955.2	+	3	314	c.213C>G	c.(211-213)atC>atG	p.I71M	ADAM15_ENST00000271836.6_Missense_Mutation_p.I71M|ADAM15_ENST00000449910.2_Missense_Mutation_p.I71M|ADAM15_ENST00000359280.4_Missense_Mutation_p.I71M|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Missense_Mutation_p.I71M|ADAM15_ENST00000360674.4_Missense_Mutation_p.I71M|ADAM15_ENST00000531455.1_Missense_Mutation_p.I81M|ADAM15_ENST00000447332.3_Intron|ADAM15_ENST00000368413.1_Missense_Mutation_p.I71M|ADAM15_ENST00000368412.3_Missense_Mutation_p.I71M|ADAM15_ENST00000355956.2_Missense_Mutation_p.I71M	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	71					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCTGAGGATCAAGTTGGAGC	0.527																																						dbGAP											0													131.0	114.0	120.0					1																	155025919		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.213C>G	1.37:g.155025919C>G	ENSP00000349436:p.Ile71Met		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.I71M	ENST00000356955.2	37	c.213	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710834	0.48517	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.95;3.32;3.96;3.32	5.28	2.82	0.32997	Peptidase M12B, propeptide (1);	0.000000	0.44688	D	0.000439	T	0.06781	0.0173	L	0.56280	1.765	0.09310	N	1	D;D;D;P;D;D;D;P;D	0.61080	0.981;0.981;0.987;0.951;0.977;0.977;0.977;0.951;0.989	D;D;D;P;P;P;P;P;D	0.67103	0.936;0.936;0.94;0.859;0.894;0.894;0.851;0.859;0.949	T	0.15235	-1.0444	10	0.56958	D	0.05	.	4.6645	0.12659	0.0:0.6394:0.2014:0.1591	.	81;88;71;71;71;71;71;71;71	E9PN65;B7Z390;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;ADA15_HUMAN	M	71;71;71;71;71;71;71;71;71;81	ENSP00000349436:I71M;ENSP00000403843:I71M;ENSP00000352226:I71M;ENSP00000353892:I71M;ENSP00000357397:I71M;ENSP00000348227:I71M;ENSP00000357395:I71M;ENSP00000271836:I71M;ENSP00000357398:I71M;ENSP00000432927:I81M	ENSP00000271836:I71M	I	+	3	3	ADAM15	153292543	0.798000	0.28890	0.222000	0.23844	0.868000	0.49771	1.383000	0.34385	0.896000	0.36366	0.561000	0.74099	ATC	ADAM15	-	pfam_Peptidase_M12B_N	ENSG00000143537		0.527	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	102	0.00	0	C	NM_003815		155025919	155025919	+1	no_errors	ENST00000356955	ensembl	human	known	69_37n	missense	91	21.55	25	SNP	0.096	G
ADAM15	8751	genome.wustl.edu	37	1	155025919	155025919	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:155025919C>G	ENST00000356955.2	+	3	314	c.213C>G	c.(211-213)atC>atG	p.I71M	ADAM15_ENST00000271836.6_Missense_Mutation_p.I71M|ADAM15_ENST00000449910.2_Missense_Mutation_p.I71M|ADAM15_ENST00000359280.4_Missense_Mutation_p.I71M|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Missense_Mutation_p.I71M|ADAM15_ENST00000360674.4_Missense_Mutation_p.I71M|ADAM15_ENST00000531455.1_Missense_Mutation_p.I81M|ADAM15_ENST00000447332.3_Intron|ADAM15_ENST00000368413.1_Missense_Mutation_p.I71M|ADAM15_ENST00000368412.3_Missense_Mutation_p.I71M|ADAM15_ENST00000355956.2_Missense_Mutation_p.I71M	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	71					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCTGAGGATCAAGTTGGAGC	0.527																																						dbGAP											0													131.0	114.0	120.0					1																	155025919		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.213C>G	1.37:g.155025919C>G	ENSP00000349436:p.Ile71Met		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.I71M	ENST00000356955.2	37	c.213	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710834	0.48517	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.95;3.32;3.96;3.32	5.28	2.82	0.32997	Peptidase M12B, propeptide (1);	0.000000	0.44688	D	0.000439	T	0.06781	0.0173	L	0.56280	1.765	0.09310	N	1	D;D;D;P;D;D;D;P;D	0.61080	0.981;0.981;0.987;0.951;0.977;0.977;0.977;0.951;0.989	D;D;D;P;P;P;P;P;D	0.67103	0.936;0.936;0.94;0.859;0.894;0.894;0.851;0.859;0.949	T	0.15235	-1.0444	10	0.56958	D	0.05	.	4.6645	0.12659	0.0:0.6394:0.2014:0.1591	.	81;88;71;71;71;71;71;71;71	E9PN65;B7Z390;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;ADA15_HUMAN	M	71;71;71;71;71;71;71;71;71;81	ENSP00000349436:I71M;ENSP00000403843:I71M;ENSP00000352226:I71M;ENSP00000353892:I71M;ENSP00000357397:I71M;ENSP00000348227:I71M;ENSP00000357395:I71M;ENSP00000271836:I71M;ENSP00000357398:I71M;ENSP00000432927:I81M	ENSP00000271836:I71M	I	+	3	3	ADAM15	153292543	0.798000	0.28890	0.222000	0.23844	0.868000	0.49771	1.383000	0.34385	0.896000	0.36366	0.561000	0.74099	ATC	ADAM15	-	pfam_Peptidase_M12B_N	ENSG00000143537		0.527	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	50	0.00	0	C	NM_003815		155025919	155025919	+1	no_errors	ENST00000356955	ensembl	human	known	69_37n	missense	91	21.55	25	SNP	0.096	G
ARAP2	116984	genome.wustl.edu	37	4	36148931	36148931	+	Frame_Shift_Del	DEL	C	C	-	rs538627955		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr4:36148931delC	ENST00000303965.4	-	19	3739	c.3250delG	c.(3250-3252)gtafs	p.V1084fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1084	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCTTTTTCTACCAAGAGTAAA	0.343																																						dbGAP											0													94.0	106.0	102.0					4																	36148931		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3250delG	4.37:g.36148931delC	ENSP00000302895:p.Val1084fs		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.V1084fs	ENST00000303965.4	37	c.3250	CCDS3441.1	4																																																																																			ARAP2	-	smart_Pleckstrin_homology	ENSG00000047365		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	46	0.00	0	C	NM_015230		36148931	36148931	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
ARHGAP27	201176	genome.wustl.edu	37	17	43481448	43481448	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr17:43481448G>T	ENST00000428638.1	-	7	1493	c.1494C>A	c.(1492-1494)gaC>gaA	p.D498E	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.D130E|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.D157E|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.D157E|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.D276E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D476E|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D471E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	498	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCCCTGCCTTGTCCAAGGTCT	0.597																																						dbGAP											0													68.0	66.0	66.0					17																	43481448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1494C>A	17.37:g.43481448G>T	ENSP00000403323:p.Asp498Glu		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.D498E	ENST00000428638.1	37	c.1494		17	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.119347	0.01785	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.45	2.26	0.28386	Pleckstrin homology domain (2);	0.106321	0.64402	N	0.000005	T	0.66076	0.2753	N	0.04787	-0.16	0.80722	D	1	B;D;D	0.63046	0.09;0.987;0.992	B;D;D	0.74023	0.114;0.958;0.982	T	0.65533	-0.6145	10	0.02654	T	1	.	6.8938	0.24245	0.0803:0.0:0.4737:0.446	.	276;471;498	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	E	276;157;130;476;498;471;157	ENSP00000432762:D276E;ENSP00000366121:D157E;ENSP00000431591:D130E;ENSP00000433942:D476E;ENSP00000403323:D498E;ENSP00000409330:D471E;ENSP00000408235:D157E	ENSP00000366121:D157E	D	-	3	2	ARHGAP27	40837231	0.997000	0.39634	1.000000	0.80357	0.347000	0.29111	0.216000	0.17585	0.822000	0.34565	-0.282000	0.10007	GAC	ARHGAP27	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000159314		0.597	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		34	0.00	0	G	NM_199282		43481448	43481448	-1	no_errors	ENST00000428638	ensembl	human	known	69_37n	missense	6	71.43	15	SNP	1.000	T
ARHGAP27	201176	genome.wustl.edu	37	17	43481448	43481448	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr17:43481448G>T	ENST00000428638.1	-	7	1493	c.1494C>A	c.(1492-1494)gaC>gaA	p.D498E	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.D130E|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.D157E|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.D157E|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.D276E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D476E|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D471E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	498	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCCCTGCCTTGTCCAAGGTCT	0.597																																						dbGAP											0													68.0	66.0	66.0					17																	43481448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1494C>A	17.37:g.43481448G>T	ENSP00000403323:p.Asp498Glu		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.D498E	ENST00000428638.1	37	c.1494		17	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.119347	0.01785	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.45	2.26	0.28386	Pleckstrin homology domain (2);	0.106321	0.64402	N	0.000005	T	0.66076	0.2753	N	0.04787	-0.16	0.80722	D	1	B;D;D	0.63046	0.09;0.987;0.992	B;D;D	0.74023	0.114;0.958;0.982	T	0.65533	-0.6145	10	0.02654	T	1	.	6.8938	0.24245	0.0803:0.0:0.4737:0.446	.	276;471;498	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	E	276;157;130;476;498;471;157	ENSP00000432762:D276E;ENSP00000366121:D157E;ENSP00000431591:D130E;ENSP00000433942:D476E;ENSP00000403323:D498E;ENSP00000409330:D471E;ENSP00000408235:D157E	ENSP00000366121:D157E	D	-	3	2	ARHGAP27	40837231	0.997000	0.39634	1.000000	0.80357	0.347000	0.29111	0.216000	0.17585	0.822000	0.34565	-0.282000	0.10007	GAC	ARHGAP27	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000159314		0.597	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		28	0.00	0	G	NM_199282		43481448	43481448	-1	no_errors	ENST00000428638	ensembl	human	known	69_37n	missense	6	71.43	15	SNP	1.000	T
ASTN1	460	genome.wustl.edu	37	1	176903419	176903419	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:176903419G>A	ENST00000367654.3	-	16	2775	c.2564C>T	c.(2563-2565)gCg>gTg	p.A855V	ASTN1_ENST00000367657.3_Missense_Mutation_p.A847V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A847V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A847V|ASTN1_ENST00000281881.3_5'Flank	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	855					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.A847E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCAACAGCGCCACAAAATC	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	90.0	96.0					1																	176903419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2564C>T	1.37:g.176903419G>A	ENSP00000356626:p.Ala855Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.A855V	ENST00000367654.3	37	c.2564		1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299517	0.81136	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.91	5.91	0.95273	.	0.099037	0.64402	D	0.000001	T	0.36524	0.0970	L	0.29908	0.895	0.58432	D	0.999995	P;P	0.48589	0.912;0.854	B;B	0.33960	0.173;0.173	T	0.37384	-0.9708	10	0.59425	D	0.04	-21.664	19.8936	0.96942	0.0:0.0:1.0:0.0	.	847;847	O14525-2;B1AJS1	.;.	V	847;847;855;847;847	ENSP00000356629:A847V;ENSP00000354536:A847V;ENSP00000356626:A855V;ENSP00000395041:A847V	ENSP00000354536:A847V	A	-	2	0	ASTN1	175170042	1.000000	0.71417	0.986000	0.45419	0.642000	0.38348	9.246000	0.95438	2.793000	0.96121	0.655000	0.94253	GCG	ASTN1	-	smart_MACPF	ENSG00000152092		0.537	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		70	0.00	0	G	NM_004319		176903419	176903419	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	29	56.72	38	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	176903419	176903419	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:176903419G>A	ENST00000367654.3	-	16	2775	c.2564C>T	c.(2563-2565)gCg>gTg	p.A855V	ASTN1_ENST00000367657.3_Missense_Mutation_p.A847V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A847V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A847V|ASTN1_ENST00000281881.3_5'Flank	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	855					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.A847E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCAACAGCGCCACAAAATC	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	90.0	96.0					1																	176903419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2564C>T	1.37:g.176903419G>A	ENSP00000356626:p.Ala855Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.A855V	ENST00000367654.3	37	c.2564		1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299517	0.81136	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.91	5.91	0.95273	.	0.099037	0.64402	D	0.000001	T	0.36524	0.0970	L	0.29908	0.895	0.58432	D	0.999995	P;P	0.48589	0.912;0.854	B;B	0.33960	0.173;0.173	T	0.37384	-0.9708	10	0.59425	D	0.04	-21.664	19.8936	0.96942	0.0:0.0:1.0:0.0	.	847;847	O14525-2;B1AJS1	.;.	V	847;847;855;847;847	ENSP00000356629:A847V;ENSP00000354536:A847V;ENSP00000356626:A855V;ENSP00000395041:A847V	ENSP00000354536:A847V	A	-	2	0	ASTN1	175170042	1.000000	0.71417	0.986000	0.45419	0.642000	0.38348	9.246000	0.95438	2.793000	0.96121	0.655000	0.94253	GCG	ASTN1	-	smart_MACPF	ENSG00000152092		0.537	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		24	0.00	0	G	NM_004319		176903419	176903419	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	29	56.72	38	SNP	1.000	A
ATRX	546	genome.wustl.edu	37	X	76889994	76889994	+	Intron	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chrX:76889994G>T	ENST00000373344.5	-	17	5024				ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_Intron	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						tttatcttcagcccctacgac	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								-	-	-	SO:0001627	intron_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4809+90C>A	X.37:g.76889994G>T			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	36	0.00	0	G	NM_000489		76889994	76889994	-1	no_errors	ENST00000460639	ensembl	human	known	69_37n	rna	13	62.86	22	SNP	0.000	T
ATRX	546	genome.wustl.edu	37	X	76889994	76889994	+	Intron	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:76889994G>T	ENST00000373344.5	-	17	5024				ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_Intron	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						tttatcttcagcccctacgac	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								-	-	-	SO:0001627	intron_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4809+90C>A	X.37:g.76889994G>T			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	18	0.00	0	G	NM_000489		76889994	76889994	-1	no_errors	ENST00000460639	ensembl	human	known	69_37n	rna	13	62.86	22	SNP	0.000	T
AXIN1	8312	genome.wustl.edu	37	16	396809	396809	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr16:396809C>G	ENST00000262320.3	-	2	588	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.E73Q	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	73					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.E73K(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCACTGCCCTCAGGCTCATAC	0.577											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											1	Substitution - Missense(1)	breast(1)											38.0	35.0	36.0					16																	396809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.217G>C	16.37:g.396809C>G	ENSP00000262320:p.Glu73Gln	588	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E73Q	ENST00000262320.3	37	c.217	CCDS10405.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599742	0.87055	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.67171	-0.25;-0.23	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85426	0.1146	10	0.72032	D	0.01	-17.4514	19.0468	0.93022	0.0:1.0:0.0:0.0	.	73;73	O15169-2;O15169	.;AXIN1_HUMAN	Q	73	ENSP00000262320:E73Q;ENSP00000346935:E73Q	ENSP00000262320:E73Q	E	-	1	0	AXIN1	336810	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.650000	0.83521	2.522000	0.85027	0.655000	0.94253	GAG	AXIN1	-	NULL	ENSG00000103126		0.577	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	45	0.00	0	C			396809	396809	-1	no_errors	ENST00000262320	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	1.000	G
AXIN1	8312	genome.wustl.edu	37	16	396809	396809	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr16:396809C>G	ENST00000262320.3	-	2	588	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.E73Q	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	73					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.E73K(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCACTGCCCTCAGGCTCATAC	0.577											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											1	Substitution - Missense(1)	breast(1)											38.0	35.0	36.0					16																	396809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.217G>C	16.37:g.396809C>G	ENSP00000262320:p.Glu73Gln	588	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E73Q	ENST00000262320.3	37	c.217	CCDS10405.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599742	0.87055	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.67171	-0.25;-0.23	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85426	0.1146	10	0.72032	D	0.01	-17.4514	19.0468	0.93022	0.0:1.0:0.0:0.0	.	73;73	O15169-2;O15169	.;AXIN1_HUMAN	Q	73	ENSP00000262320:E73Q;ENSP00000346935:E73Q	ENSP00000262320:E73Q	E	-	1	0	AXIN1	336810	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.650000	0.83521	2.522000	0.85027	0.655000	0.94253	GAG	AXIN1	-	NULL	ENSG00000103126		0.577	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	21	0.00	0	C			396809	396809	-1	no_errors	ENST00000262320	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	1.000	G
B4GALT5	9334	genome.wustl.edu	37	20	48257019	48257019	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr20:48257019A>G	ENST00000371711.4	-	6	977	c.790T>C	c.(790-792)Tat>Cat	p.Y264H		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	264					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACTCACAGATACATATACTTA	0.373																																						dbGAP											0													106.0	106.0	106.0					20																	48257019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.790T>C	20.37:g.48257019A>G	ENSP00000360776:p.Tyr264His		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.Y264H	ENST00000371711.4	37	c.790	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935890	0.92458	.	.	ENSG00000158470	ENST00000371711	D	0.84146	-1.81	5.91	5.91	0.95273	.	0.053066	0.85682	D	0.000000	D	0.94631	0.8269	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95916	0.8927	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	264	O43286	B4GT5_HUMAN	H	264	ENSP00000360776:Y264H	ENSP00000360776:Y264H	Y	-	1	0	B4GALT5	47690426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	TAT	B4GALT5	-	pfam_Galactosyl_T_2_met	ENSG00000158470		0.373	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	34	0.00	0	A	NM_004776		48257019	48257019	-1	no_errors	ENST00000371711	ensembl	human	known	69_37n	missense	39	40.91	27	SNP	1.000	G
BAI3	577	genome.wustl.edu	37	6	70092792	70092792	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr6:70092792G>A	ENST00000370598.1	+	31	5166	c.4345G>A	c.(4345-4347)Gac>Aac	p.D1449N	BAI3_ENST00000238918.8_Missense_Mutation_p.D655N|BAI3_ENST00000546190.1_Missense_Mutation_p.D413N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1449					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAAACTTTGGACAGATTTCG	0.378																																						dbGAP											0													100.0	98.0	98.0					6																	70092792		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4345G>A	6.37:g.70092792G>A	ENSP00000359630:p.Asp1449Asn		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.D1449N	ENST00000370598.1	37	c.4345	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690575	0.68271	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06687	3.27;3.27;3.27	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.52573	1.65	0.58432	D	0.99999	D;B	0.63880	0.993;0.128	D;B	0.70935	0.971;0.052	T	0.00448	-1.1733	10	0.87932	D	0	.	19.9675	0.97275	0.0:0.0:1.0:0.0	.	655;1449	B7Z356;O60242	.;BAI3_HUMAN	N	1449;655;413	ENSP00000359630:D1449N;ENSP00000238918:D655N;ENSP00000441821:D413N	ENSP00000238918:D655N	D	+	1	0	BAI3	70149513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.437000	0.97535	2.709000	0.92574	0.655000	0.94253	GAC	BAI3	-	NULL	ENSG00000135298		0.378	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	62	0.00	0	G			70092792	70092792	+1	no_errors	ENST00000370598	ensembl	human	known	69_37n	missense	45	26.23	16	SNP	1.000	A
BAI3	577	genome.wustl.edu	37	6	70092792	70092792	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr6:70092792G>A	ENST00000370598.1	+	31	5166	c.4345G>A	c.(4345-4347)Gac>Aac	p.D1449N	BAI3_ENST00000238918.8_Missense_Mutation_p.D655N|BAI3_ENST00000546190.1_Missense_Mutation_p.D413N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1449					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAAACTTTGGACAGATTTCG	0.378																																						dbGAP											0													100.0	98.0	98.0					6																	70092792		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4345G>A	6.37:g.70092792G>A	ENSP00000359630:p.Asp1449Asn		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.D1449N	ENST00000370598.1	37	c.4345	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690575	0.68271	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06687	3.27;3.27;3.27	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.52573	1.65	0.58432	D	0.99999	D;B	0.63880	0.993;0.128	D;B	0.70935	0.971;0.052	T	0.00448	-1.1733	10	0.87932	D	0	.	19.9675	0.97275	0.0:0.0:1.0:0.0	.	655;1449	B7Z356;O60242	.;BAI3_HUMAN	N	1449;655;413	ENSP00000359630:D1449N;ENSP00000238918:D655N;ENSP00000441821:D413N	ENSP00000238918:D655N	D	+	1	0	BAI3	70149513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.437000	0.97535	2.709000	0.92574	0.655000	0.94253	GAC	BAI3	-	NULL	ENSG00000135298		0.378	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	28	0.00	0	G			70092792	70092792	+1	no_errors	ENST00000370598	ensembl	human	known	69_37n	missense	45	26.23	16	SNP	1.000	A
C3P1	388503	genome.wustl.edu	37	19	10166339	10166339	+	RNA	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:10166339T>A	ENST00000495140.1	+	0	1697							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GCTTAGCCTGTCCTCTCTCTG	0.557																																						dbGAP											0													159.0	142.0	147.0					19																	10166339		2073	4213	6286	-	-	-			0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10166339T>A				RNA	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			C3P1	-	-	ENSG00000167798		0.557	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	218	0.90	2	T	NR_027300		10166339	10166339	+1	no_errors	ENST00000495140	ensembl	human	known	69_37n	rna	124	30.73	55	SNP	0.000	A
C3P1	388503	genome.wustl.edu	37	19	10166339	10166339	+	RNA	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:10166339T>A	ENST00000495140.1	+	0	1697							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GCTTAGCCTGTCCTCTCTCTG	0.557																																						dbGAP											0													159.0	142.0	147.0					19																	10166339		2073	4213	6286	-	-	-			0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10166339T>A				RNA	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			C3P1	-	-	ENSG00000167798		0.557	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	99	0.00	0	T	NR_027300		10166339	10166339	+1	no_errors	ENST00000495140	ensembl	human	known	69_37n	rna	124	30.73	55	SNP	0.000	A
C19orf73	55150	genome.wustl.edu	37	19	49622111	49622111	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:49622111C>G	ENST00000408991.2	-	1	286	c.169G>C	c.(169-171)Gtg>Ctg	p.V57L	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	57								p.V57L(2)		large_intestine(1)|lung(2)	3						GCAGGCCGCACTACTGTCTGC	0.716																																						dbGAP											2	Substitution - Missense(2)	lung(2)											20.0	24.0	23.0					19																	49622111		1932	4120	6052	-	-	-	SO:0001583	missense	0			AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.169G>C	19.37:g.49622111C>G	ENSP00000386230:p.Val57Leu		Q6NSX4	Missense_Mutation	SNP	NULL	p.V57L	ENST00000408991.2	37	c.169	CCDS42589.1	19	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364554	0.24684	.	.	ENSG00000221916	ENST00000408991	T	0.53206	0.63	3.23	2.16	0.27623	.	.	.	.	.	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	P	0.44139	0.827	B	0.38327	0.271	T	0.07947	-1.0746	9	0.87932	D	0	.	6.7754	0.23617	0.0:0.8658:0.0:0.1342	.	57	Q9NVV2	CS073_HUMAN	L	57	ENSP00000386230:V57L	ENSP00000386230:V57L	V	-	1	0	C19orf73	54313923	0.002000	0.14202	0.021000	0.16686	0.931000	0.56810	1.374000	0.34283	0.922000	0.37019	0.561000	0.74099	GTG	C19orf73	-	NULL	ENSG00000221916		0.716	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf73	HGNC	protein_coding	OTTHUMT00000466275.1	64	0.00	0	C	NM_018111		49622111	49622111	-1	no_errors	ENST00000408991	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	0.090	G
C19orf73	55150	genome.wustl.edu	37	19	49622111	49622111	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:49622111C>G	ENST00000408991.2	-	1	286	c.169G>C	c.(169-171)Gtg>Ctg	p.V57L	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	57								p.V57L(2)		large_intestine(1)|lung(2)	3						GCAGGCCGCACTACTGTCTGC	0.716																																						dbGAP											2	Substitution - Missense(2)	lung(2)											20.0	24.0	23.0					19																	49622111		1932	4120	6052	-	-	-	SO:0001583	missense	0			AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.169G>C	19.37:g.49622111C>G	ENSP00000386230:p.Val57Leu		Q6NSX4	Missense_Mutation	SNP	NULL	p.V57L	ENST00000408991.2	37	c.169	CCDS42589.1	19	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364554	0.24684	.	.	ENSG00000221916	ENST00000408991	T	0.53206	0.63	3.23	2.16	0.27623	.	.	.	.	.	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	P	0.44139	0.827	B	0.38327	0.271	T	0.07947	-1.0746	9	0.87932	D	0	.	6.7754	0.23617	0.0:0.8658:0.0:0.1342	.	57	Q9NVV2	CS073_HUMAN	L	57	ENSP00000386230:V57L	ENSP00000386230:V57L	V	-	1	0	C19orf73	54313923	0.002000	0.14202	0.021000	0.16686	0.931000	0.56810	1.374000	0.34283	0.922000	0.37019	0.561000	0.74099	GTG	C19orf73	-	NULL	ENSG00000221916		0.716	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf73	HGNC	protein_coding	OTTHUMT00000466275.1	35	0.00	0	C	NM_018111		49622111	49622111	-1	no_errors	ENST00000408991	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	0.090	G
CACNA1B	774	genome.wustl.edu	37	9	140777194	140777194	+	Splice_Site	SNP	A	A	T	rs201406683|rs143643389		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr9:140777194A>T	ENST00000371372.1	+	3	535		c.e3-1		CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277549.5_Splice_Site	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTTCTCCTAGGACGACACG	0.592																																						dbGAP											0													87.0	92.0	90.0					9																	140777194		2064	4188	6252	-	-	-	SO:0001630	splice_region_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.391-1A>T	9.37:g.140777194A>T			B1AQK5	Splice_Site	SNP	-	e3-2	ENST00000371372.1	37	c.391-2	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	A	13.32	2.203189	0.38905	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2005	0.65699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1B	139897015	1.000000	0.71417	0.977000	0.42913	0.113000	0.19764	9.122000	0.94380	1.757000	0.51966	0.383000	0.25322	.	CACNA1B	-	-	ENSG00000148408		0.592	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	83	0	0	A	NM_000718	Intron	140777194	140777194	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	splice_site	86	12.24	12	SNP	1.000	T
CACNA1E	777	genome.wustl.edu	37	1	181726134	181726134	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:181726134A>G	ENST00000367573.2	+	30	4201	c.4201A>G	c.(4201-4203)Atc>Gtc	p.I1401V	CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1333V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1382V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1352V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1382V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1401V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1008V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1401					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAGATGTCTATCTTTTATGT	0.483																																						dbGAP											0													194.0	198.0	196.0					1																	181726134		1956	4168	6124	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4201A>G	1.37:g.181726134A>G	ENSP00000356545:p.Ile1401Val		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.I1401V	ENST00000367573.2	37	c.4201	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288232	0.59976	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17;-5.17;-5.17	5.75	4.62	0.57501	Ion transport (1);	0.157716	0.53938	D	0.000043	D	0.97949	0.9325	L	0.52823	1.66	0.80722	D	1	B;P;B	0.37500	0.164;0.597;0.383	B;P;B	0.46917	0.327;0.531;0.106	D	0.97509	1.0065	10	0.87932	D	0	.	12.7912	0.57534	0.863:0.137:0.0:0.0	.	1382;1401;1401	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	V	1401;1382;1352;1333;1008;1382;1401	ENSP00000356542:I1401V;ENSP00000434814:I1382V;ENSP00000350183:I1352V;ENSP00000351101:I1333V;ENSP00000356539:I1008V;ENSP00000353222:I1382V;ENSP00000356545:I1401V	ENSP00000350183:I1352V	I	+	1	0	CACNA1E	179992757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	0.992000	0.38840	0.533000	0.62120	ATC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	132	0.75	1	A	NM_000721		181726134	181726134	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	61	54.14	72	SNP	1.000	G
CACNA1E	777	genome.wustl.edu	37	1	181726134	181726134	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:181726134A>G	ENST00000367573.2	+	30	4201	c.4201A>G	c.(4201-4203)Atc>Gtc	p.I1401V	CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1333V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1382V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1352V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1382V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1401V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1008V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1401					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAGATGTCTATCTTTTATGT	0.483																																						dbGAP											0													194.0	198.0	196.0					1																	181726134		1956	4168	6124	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4201A>G	1.37:g.181726134A>G	ENSP00000356545:p.Ile1401Val		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.I1401V	ENST00000367573.2	37	c.4201	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288232	0.59976	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17;-5.17;-5.17	5.75	4.62	0.57501	Ion transport (1);	0.157716	0.53938	D	0.000043	D	0.97949	0.9325	L	0.52823	1.66	0.80722	D	1	B;P;B	0.37500	0.164;0.597;0.383	B;P;B	0.46917	0.327;0.531;0.106	D	0.97509	1.0065	10	0.87932	D	0	.	12.7912	0.57534	0.863:0.137:0.0:0.0	.	1382;1401;1401	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	V	1401;1382;1352;1333;1008;1382;1401	ENSP00000356542:I1401V;ENSP00000434814:I1382V;ENSP00000350183:I1352V;ENSP00000351101:I1333V;ENSP00000356539:I1008V;ENSP00000353222:I1382V;ENSP00000356545:I1401V	ENSP00000350183:I1352V	I	+	1	0	CACNA1E	179992757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	0.992000	0.38840	0.533000	0.62120	ATC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	58	0.00	0	A	NM_000721		181726134	181726134	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	61	54.14	72	SNP	1.000	G
CACNA1S	779	genome.wustl.edu	37	1	201046073	201046073	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:201046073G>A	ENST00000362061.3	-	12	2028	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P601L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	601					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	gagggCTTGGGGAAAGTTGTC	0.537																																						dbGAP											0													189.0	162.0	171.0					1																	201046073		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1802C>T	1.37:g.201046073G>A	ENSP00000355192:p.Pro601Leu		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.P601L	ENST00000362061.3	37	c.1802	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236523	0.79800	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97114	-4.25;-4.25	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95663	0.8717	10	0.25106	T	0.35	.	17.6809	0.88242	0.0:0.0:1.0:0.0	.	601	Q13698	CAC1S_HUMAN	L	601	ENSP00000355192:P601L;ENSP00000356307:P601L	ENSP00000355192:P601L	P	-	2	0	CACNA1S	199312696	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.839000	0.99476	2.249000	0.74217	0.549000	0.68633	CCC	CACNA1S	-	pfam_Ion_trans_dom,prints_VDCCAlpha1	ENSG00000081248		0.537	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	127	0.78	1	G	NM_000069		201046073	201046073	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	missense	77	31.86	36	SNP	1.000	A
CACNA1S	779	genome.wustl.edu	37	1	201046073	201046073	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:201046073G>A	ENST00000362061.3	-	12	2028	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P601L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	601					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	gagggCTTGGGGAAAGTTGTC	0.537																																						dbGAP											0													189.0	162.0	171.0					1																	201046073		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1802C>T	1.37:g.201046073G>A	ENSP00000355192:p.Pro601Leu		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.P601L	ENST00000362061.3	37	c.1802	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236523	0.79800	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97114	-4.25;-4.25	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95663	0.8717	10	0.25106	T	0.35	.	17.6809	0.88242	0.0:0.0:1.0:0.0	.	601	Q13698	CAC1S_HUMAN	L	601	ENSP00000355192:P601L;ENSP00000356307:P601L	ENSP00000355192:P601L	P	-	2	0	CACNA1S	199312696	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.839000	0.99476	2.249000	0.74217	0.549000	0.68633	CCC	CACNA1S	-	pfam_Ion_trans_dom,prints_VDCCAlpha1	ENSG00000081248		0.537	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	56	0.00	0	G	NM_000069		201046073	201046073	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	missense	77	31.86	36	SNP	1.000	A
CAMKK2	10645	genome.wustl.edu	37	12	121678327	121678328	+	3'UTR	INS	-	-	TTT	rs398056010|rs201965034|rs200501220|rs63023660|rs398021385		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr12:121678327_121678328insTTT	ENST00000324774.5	-	0	2769_2770				CAMKK2_ENST00000347034.2_3'UTR|CAMKK2_ENST00000392474.2_In_Frame_Ins_p.538_539insK|CAMKK2_ENST00000545538.1_In_Frame_Ins_p.325_326insK|CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000412367.2_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGTCAAGTCCTTTTTTTTTTT	0.495																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.*175->AAA	12.37:g.121678334_121678336dupTTT			A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	In_Frame_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.538in_frame_insK	ENST00000324774.5	37	c.1615_1614	CCDS9216.1	12																																																																																			CAMKK2	-	NULL	ENSG00000110931		0.495	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	26	0.00	0	-	NM_172226		121678327	121678328	-1	no_errors	ENST00000392474	ensembl	human	known	69_37n	in_frame_ins	29	17.14	6	INS	0.005:0.000	TTT
RAB11FIP2	22841	genome.wustl.edu	37	10	119806543	119806543	+	5'Flank	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr10:119806543C>T	ENST00000355624.3	-	0	0				CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000454781.1_RNA|CASC2_ENST00000439517.1_RNA|CASC2_ENST00000414722.1_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_5'Flank|RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000435944.1_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)						establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GGCGGGGACCCGGGGCTTGAT	0.731																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128		10.37:g.119806543C>T	Exception_encountered		A6NEI4|Q3I768|Q9Y2F0	RNA	SNP	-	NULL	ENST00000355624.3	37	NULL	CCDS7602.1	10																																																																																			CASC2	-	-	ENSG00000177640		0.731	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC2	HGNC	protein_coding	OTTHUMT00000050583.1	77	0.00	0	C	NM_014904		119806543	119806543	+1	no_errors	ENST00000426021	ensembl	human	known	69_37n	rna	48	26.15	17	SNP	0.000	T
RAB11FIP2	22841	genome.wustl.edu	37	10	119806543	119806543	+	5'Flank	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr10:119806543C>T	ENST00000355624.3	-	0	0				CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000454781.1_RNA|CASC2_ENST00000439517.1_RNA|CASC2_ENST00000414722.1_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_5'Flank|RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000435944.1_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)						establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GGCGGGGACCCGGGGCTTGAT	0.731																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128		10.37:g.119806543C>T	Exception_encountered		A6NEI4|Q3I768|Q9Y2F0	RNA	SNP	-	NULL	ENST00000355624.3	37	NULL	CCDS7602.1	10																																																																																			CASC2	-	-	ENSG00000177640		0.731	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC2	HGNC	protein_coding	OTTHUMT00000050583.1	26	0.00	0	C	NM_014904		119806543	119806543	+1	no_errors	ENST00000426021	ensembl	human	known	69_37n	rna	48	26.15	17	SNP	0.000	T
CD99L2	83692	genome.wustl.edu	37	X	149997772	149997772	+	Intron	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chrX:149997772A>G	ENST00000370377.3	-	2	248				CD99L2_ENST00000320893.6_Nonstop_Mutation_p.*146R|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					agatgagatcatcctggatta	0.363																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.130+1931T>C	X.37:g.149997772A>G			A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Nonstop_Mutation	SNP	NULL	p.*146R	ENST00000370377.3	37	c.436	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	A	8.149	0.786889	0.16189	.	.	ENSG00000102181	ENST00000320893	.	.	.	1.46	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6157	0.12424	1.0:0.0:0.0:0.0	.	.	.	.	R	146	.	.	X	-	1	0	CD99L2	149748430	0.000000	0.05858	0.001000	0.08648	0.215000	0.24574	0.419000	0.21247	0.837000	0.34925	0.356000	0.21956	TGA	CD99L2	-	NULL	ENSG00000102181		0.363	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	29	0.00	0	A	NM_031462		149997772	149997772	-1	no_errors	ENST00000320893	ensembl	human	known	69_37n	nonstop	10	33.33	5	SNP	0.001	G
CD99L2	83692	genome.wustl.edu	37	X	149997772	149997772	+	Intron	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:149997772A>G	ENST00000370377.3	-	2	248				CD99L2_ENST00000320893.6_Nonstop_Mutation_p.*146R|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					agatgagatcatcctggatta	0.363																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.130+1931T>C	X.37:g.149997772A>G			A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Nonstop_Mutation	SNP	NULL	p.*146R	ENST00000370377.3	37	c.436	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	A	8.149	0.786889	0.16189	.	.	ENSG00000102181	ENST00000320893	.	.	.	1.46	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6157	0.12424	1.0:0.0:0.0:0.0	.	.	.	.	R	146	.	.	X	-	1	0	CD99L2	149748430	0.000000	0.05858	0.001000	0.08648	0.215000	0.24574	0.419000	0.21247	0.837000	0.34925	0.356000	0.21956	TGA	CD99L2	-	NULL	ENSG00000102181		0.363	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	12	0.00	0	A	NM_031462		149997772	149997772	-1	no_errors	ENST00000320893	ensembl	human	known	69_37n	nonstop	10	33.33	5	SNP	0.001	G
CDC73	79577	genome.wustl.edu	37	1	193218979	193218979	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:193218979C>T	ENST00000367435.3	+	16	1721	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	513	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTGTTCTTACGGTTTTGGGA	0.348																																						dbGAP											0													118.0	120.0	119.0					1																	193218979		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1537C>T	1.37:g.193218979C>T	ENSP00000356405:p.Arg513Trp		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.R513W	ENST00000367435.3	37	c.1537	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572159	0.45798	.	.	ENSG00000134371	ENST00000367435	T	0.65178	-0.14	5.53	1.44	0.22558	.	0.125364	0.53938	N	0.000051	T	0.55721	0.1938	L	0.50333	1.59	0.53688	D	0.99997	D	0.56746	0.977	P	0.47941	0.562	T	0.53034	-0.8495	10	0.72032	D	0.01	-5.248	5.2781	0.15661	0.3741:0.4392:0.1207:0.066	.	513	Q6P1J9	CDC73_HUMAN	W	513	ENSP00000356405:R513W	ENSP00000356405:R513W	R	+	1	2	CDC73	191485602	1.000000	0.71417	0.878000	0.34440	0.231000	0.25187	3.613000	0.54152	0.010000	0.14839	-1.057000	0.02308	CGG	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.348	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	78	0.00	0	C	NM_024529		193218979	193218979	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	44	44.30	35	SNP	0.999	T
CDC73	79577	genome.wustl.edu	37	1	193218979	193218979	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:193218979C>T	ENST00000367435.3	+	16	1721	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	513	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTGTTCTTACGGTTTTGGGA	0.348																																						dbGAP											0													118.0	120.0	119.0					1																	193218979		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1537C>T	1.37:g.193218979C>T	ENSP00000356405:p.Arg513Trp		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.R513W	ENST00000367435.3	37	c.1537	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572159	0.45798	.	.	ENSG00000134371	ENST00000367435	T	0.65178	-0.14	5.53	1.44	0.22558	.	0.125364	0.53938	N	0.000051	T	0.55721	0.1938	L	0.50333	1.59	0.53688	D	0.99997	D	0.56746	0.977	P	0.47941	0.562	T	0.53034	-0.8495	10	0.72032	D	0.01	-5.248	5.2781	0.15661	0.3741:0.4392:0.1207:0.066	.	513	Q6P1J9	CDC73_HUMAN	W	513	ENSP00000356405:R513W	ENSP00000356405:R513W	R	+	1	2	CDC73	191485602	1.000000	0.71417	0.878000	0.34440	0.231000	0.25187	3.613000	0.54152	0.010000	0.14839	-1.057000	0.02308	CGG	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.348	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	44	0.00	0	C	NM_024529		193218979	193218979	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	44	44.30	35	SNP	0.999	T
CDKL5	6792	genome.wustl.edu	37	X	18668703	18668703	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chrX:18668703C>G	ENST00000379989.3	+	21	3256	c.2971C>G	c.(2971-2973)Cag>Gag	p.Q991E	CDKL5_ENST00000379996.3_Missense_Mutation_p.Q991E|RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	991					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTGCCCAACCCAGCAATCCGG	0.582																																						dbGAP											0													87.0	72.0	77.0					X																	18668703		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2971C>G	X.37:g.18668703C>G	ENSP00000369325:p.Gln991Glu		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q991E	ENST00000379989.3	37	c.2971	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108883	0.06924	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.69685	-0.42;-0.42	3.46	0.618	0.17624	.	5.962610	0.00166	N	0.000004	T	0.45337	0.1337	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40079	-0.9582	10	0.87932	D	0	.	1.5071	0.02489	0.221:0.4376:0.2117:0.1297	.	991	O76039	CDKL5_HUMAN	E	991	ENSP00000369332:Q991E;ENSP00000369325:Q991E	ENSP00000369325:Q991E	Q	+	1	0	CDKL5	18578624	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.169000	0.09911	0.018000	0.15052	-0.205000	0.12727	CAG	CDKL5	-	NULL	ENSG00000008086		0.582	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	90	0.00	0	C	NM_003159		18668703	18668703	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	missense	76	24.75	25	SNP	0.000	G
CDKL5	6792	genome.wustl.edu	37	X	18668703	18668703	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:18668703C>G	ENST00000379989.3	+	21	3256	c.2971C>G	c.(2971-2973)Cag>Gag	p.Q991E	CDKL5_ENST00000379996.3_Missense_Mutation_p.Q991E|RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	991					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTGCCCAACCCAGCAATCCGG	0.582																																						dbGAP											0													87.0	72.0	77.0					X																	18668703		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2971C>G	X.37:g.18668703C>G	ENSP00000369325:p.Gln991Glu		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q991E	ENST00000379989.3	37	c.2971	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108883	0.06924	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.69685	-0.42;-0.42	3.46	0.618	0.17624	.	5.962610	0.00166	N	0.000004	T	0.45337	0.1337	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40079	-0.9582	10	0.87932	D	0	.	1.5071	0.02489	0.221:0.4376:0.2117:0.1297	.	991	O76039	CDKL5_HUMAN	E	991	ENSP00000369332:Q991E;ENSP00000369325:Q991E	ENSP00000369325:Q991E	Q	+	1	0	CDKL5	18578624	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.169000	0.09911	0.018000	0.15052	-0.205000	0.12727	CAG	CDKL5	-	NULL	ENSG00000008086		0.582	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	36	0.00	0	C	NM_003159		18668703	18668703	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	missense	76	24.75	25	SNP	0.000	G
CHRNA10	57053	genome.wustl.edu	37	11	3687705	3687705	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr11:3687705C>A	ENST00000250699.2	-	5	1056	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	329					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	ACTGGGCGGACACTGGGACCA	0.607																																					Melanoma(153;17 1869 2949 7120 36888)	dbGAP											0													81.0	81.0	81.0					11																	3687705		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.985G>T	11.37:g.3687705C>A	ENSP00000250699:p.Val329Phe			Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V329F	ENST00000250699.2	37	c.985	CCDS7745.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087631	0.76642	.	.	ENSG00000129749	ENST00000250699	D	0.85484	-1.99	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.108519	0.41097	D	0.000942	T	0.78817	0.4343	N	0.14661	0.345	0.80722	D	1	B	0.27882	0.192	B	0.33121	0.158	T	0.77763	-0.2466	10	0.87932	D	0	.	18.1987	0.89831	0.0:1.0:0.0:0.0	.	329	Q9GZZ6	ACH10_HUMAN	F	329	ENSP00000250699:V329F	ENSP00000250699:V329F	V	-	1	0	CHRNA10	3644281	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.426000	0.80270	2.634000	0.89283	0.561000	0.74099	GTC	CHRNA10	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000129749		0.607	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA10	HGNC	protein_coding	OTTHUMT00000032763.2	98	0.00	0	C			3687705	3687705	-1	no_errors	ENST00000250699	ensembl	human	known	69_37n	missense	87	10.31	10	SNP	1.000	A
CHRNA10	57053	genome.wustl.edu	37	11	3687705	3687705	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr11:3687705C>A	ENST00000250699.2	-	5	1056	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	329					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	ACTGGGCGGACACTGGGACCA	0.607																																					Melanoma(153;17 1869 2949 7120 36888)	dbGAP											0													81.0	81.0	81.0					11																	3687705		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.985G>T	11.37:g.3687705C>A	ENSP00000250699:p.Val329Phe			Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V329F	ENST00000250699.2	37	c.985	CCDS7745.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087631	0.76642	.	.	ENSG00000129749	ENST00000250699	D	0.85484	-1.99	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.108519	0.41097	D	0.000942	T	0.78817	0.4343	N	0.14661	0.345	0.80722	D	1	B	0.27882	0.192	B	0.33121	0.158	T	0.77763	-0.2466	10	0.87932	D	0	.	18.1987	0.89831	0.0:1.0:0.0:0.0	.	329	Q9GZZ6	ACH10_HUMAN	F	329	ENSP00000250699:V329F	ENSP00000250699:V329F	V	-	1	0	CHRNA10	3644281	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.426000	0.80270	2.634000	0.89283	0.561000	0.74099	GTC	CHRNA10	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000129749		0.607	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA10	HGNC	protein_coding	OTTHUMT00000032763.2	47	0.00	0	C			3687705	3687705	-1	no_errors	ENST00000250699	ensembl	human	known	69_37n	missense	87	10.31	10	SNP	1.000	A
CLEC2A	387836	genome.wustl.edu	37	12	10074743	10074743	+	Silent	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr12:10074743G>C	ENST00000455827.1	-	3	279	c.228C>G	c.(226-228)acC>acG	p.T76T	CLEC2A_ENST00000339766.4_Silent_p.T76T	NM_001130711.1	NP_001124183.1	Q6UVW9	CLC2A_HUMAN	C-type lectin domain family 2, member A	76	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				natural killer cell mediated cytotoxicity (GO:0042267)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	4						TCCAATTTCTGGTATCATCAG	0.388																																						dbGAP											0													126.0	102.0	109.0					12																	10074743		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AY359126	CCDS44829.1, CCDS8606.1	12p13.31	2010-06-30			ENSG00000188393	ENSG00000188393		"""C-type lectin domain containing"""	24191	protein-coding gene	gene with protein product	"""keratinocyte-associated C-type lectin"", ""proliferation-induced lymphocyte-associated receptor"""	612087				12975309	Standard	NM_001130711		Approved	UNQ5792, INPE5792, KACL, PILAR	uc009zhc.2	Q6UVW9	OTTHUMG00000140393	ENST00000455827.1:c.228C>G	12.37:g.10074743G>C			A5Y4G5|A9QKS2|A9QKS3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T76	ENST00000455827.1	37	c.228	CCDS44829.1	12																																																																																			CLEC2A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000188393		0.388	CLEC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2A	HGNC	protein_coding	OTTHUMT00000399919.1	18	0.00	0	G	NM_207375		10074743	10074743	-1	no_errors	ENST00000455827	ensembl	human	known	69_37n	silent	41	20.75	11	SNP	0.021	C
CNKSR2	22866	genome.wustl.edu	37	X	21581525	21581525	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chrX:21581525A>T	ENST00000379510.3	+	13	1599	c.1563A>T	c.(1561-1563)agA>agT	p.R521S	CNKSR2_ENST00000279451.4_Missense_Mutation_p.R521S|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R491S|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R472S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	521					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATGCACTGAGACAAGACATCA	0.403																																						dbGAP											0													137.0	122.0	127.0					X																	21581525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1563A>T	X.37:g.21581525A>T	ENSP00000368824:p.Arg521Ser		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.R521S	ENST00000379510.3	37	c.1563	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330465	0.41297	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.18810	2.43;2.19;2.19;2.48	6.08	6.08	0.98989	.	0.086187	0.64402	D	0.000011	T	0.15825	0.0381	L	0.46157	1.445	0.42273	D	0.992061	B;B;B;B	0.27823	0.19;0.009;0.002;0.105	B;B;B;B	0.24701	0.055;0.004;0.001;0.039	T	0.12344	-1.0551	10	0.12103	T	0.63	-5.3513	6.741	0.23435	0.7717:0.1517:0.0766:0.0	.	491;472;113;521	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	S	491;472;521;521	ENSP00000397906:R491S;ENSP00000444633:R472S;ENSP00000279451:R521S;ENSP00000368824:R521S	ENSP00000279451:R521S	R	+	3	2	CNKSR2	21491446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.110000	0.31147	2.044000	0.60594	0.486000	0.48141	AGA	CNKSR2	-	NULL	ENSG00000149970		0.403	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	84	0.00	0	A	NM_014927		21581525	21581525	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	missense	65	14.47	11	SNP	1.000	T
CNKSR2	22866	genome.wustl.edu	37	X	21581525	21581525	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:21581525A>T	ENST00000379510.3	+	13	1599	c.1563A>T	c.(1561-1563)agA>agT	p.R521S	CNKSR2_ENST00000279451.4_Missense_Mutation_p.R521S|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R491S|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R472S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	521					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATGCACTGAGACAAGACATCA	0.403																																						dbGAP											0													137.0	122.0	127.0					X																	21581525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1563A>T	X.37:g.21581525A>T	ENSP00000368824:p.Arg521Ser		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.R521S	ENST00000379510.3	37	c.1563	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330465	0.41297	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.18810	2.43;2.19;2.19;2.48	6.08	6.08	0.98989	.	0.086187	0.64402	D	0.000011	T	0.15825	0.0381	L	0.46157	1.445	0.42273	D	0.992061	B;B;B;B	0.27823	0.19;0.009;0.002;0.105	B;B;B;B	0.24701	0.055;0.004;0.001;0.039	T	0.12344	-1.0551	10	0.12103	T	0.63	-5.3513	6.741	0.23435	0.7717:0.1517:0.0766:0.0	.	491;472;113;521	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	S	491;472;521;521	ENSP00000397906:R491S;ENSP00000444633:R472S;ENSP00000279451:R521S;ENSP00000368824:R521S	ENSP00000279451:R521S	R	+	3	2	CNKSR2	21491446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.110000	0.31147	2.044000	0.60594	0.486000	0.48141	AGA	CNKSR2	-	NULL	ENSG00000149970		0.403	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	39	0.00	0	A	NM_014927		21581525	21581525	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	missense	65	14.47	11	SNP	1.000	T
DLGAP2	9228	genome.wustl.edu	37	8	1497331	1497331	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr8:1497331A>T	ENST00000421627.2	+	2	606	c.472A>T	c.(472-474)Aag>Tag	p.K158*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	237					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTCCGTGCAGAAGCTCTTCAC	0.692																																						dbGAP											0													12.0	17.0	15.0					8																	1497331		2141	4269	6410	-	-	-	SO:0001587	stop_gained	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.472A>T	8.37:g.1497331A>T	ENSP00000400258:p.Lys158*		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Nonsense_Mutation	SNP	pfam_GKAP	p.K158*	ENST00000421627.2	37	c.472	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	39|39	7.620347|7.620347	0.98393|0.98393	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71617	.|0.3361	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74150	.|-0.3758	.|3	0.02654|.	T|.	1|.	-14.5919|-14.5919	15.7201|15.7201	0.77700|0.77700	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	203;158|174	.|.	ENSP00000348366:K203X|.	K|R	+|+	1|3	0|2	DLGAP2|DLGAP2	1484738|1484738	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.975000|0.975000	0.68041|0.68041	8.825000|8.825000	0.92029|0.92029	2.110000|2.110000	0.64415|0.64415	0.533000|0.533000	0.62120|0.62120	AAG|AGA	DLGAP2	-	NULL	ENSG00000198010		0.692	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	63	0.00	0	A	NM_004745		1497331	1497331	+1	no_errors	ENST00000421627	ensembl	human	known	69_37n	nonsense	44	32.31	21	SNP	1.000	T
DLGAP2	9228	genome.wustl.edu	37	8	1497331	1497331	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr8:1497331A>T	ENST00000421627.2	+	2	606	c.472A>T	c.(472-474)Aag>Tag	p.K158*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	237					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTCCGTGCAGAAGCTCTTCAC	0.692																																						dbGAP											0													12.0	17.0	15.0					8																	1497331		2141	4269	6410	-	-	-	SO:0001587	stop_gained	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.472A>T	8.37:g.1497331A>T	ENSP00000400258:p.Lys158*		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Nonsense_Mutation	SNP	pfam_GKAP	p.K158*	ENST00000421627.2	37	c.472	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	39|39	7.620347|7.620347	0.98393|0.98393	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71617	.|0.3361	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74150	.|-0.3758	.|3	0.02654|.	T|.	1|.	-14.5919|-14.5919	15.7201|15.7201	0.77700|0.77700	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	203;158|174	.|.	ENSP00000348366:K203X|.	K|R	+|+	1|3	0|2	DLGAP2|DLGAP2	1484738|1484738	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.975000|0.975000	0.68041|0.68041	8.825000|8.825000	0.92029|0.92029	2.110000|2.110000	0.64415|0.64415	0.533000|0.533000	0.62120|0.62120	AAG|AGA	DLGAP2	-	NULL	ENSG00000198010		0.692	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	25	0.00	0	A	NM_004745		1497331	1497331	+1	no_errors	ENST00000421627	ensembl	human	known	69_37n	nonsense	44	32.31	21	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	31187564	31187564	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chrX:31187564T>A	ENST00000357033.4	-	74	10755	c.10549A>T	c.(10549-10551)Aac>Tac	p.N3517Y	DMD_ENST00000378680.2_Intron|DMD_ENST00000343523.2_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000361471.4_Missense_Mutation_p.N436Y|DMD_ENST00000474231.1_Missense_Mutation_p.N1057Y|DMD_ENST00000378707.3_Missense_Mutation_p.N1057Y|DMD_ENST00000359836.1_Missense_Mutation_p.N1044Y|DMD_ENST00000378723.3_Missense_Mutation_p.N449Y|DMD_ENST00000378702.4_Missense_Mutation_p.N449Y|DMD_ENST00000378677.2_Missense_Mutation_p.N3513Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3517	Binds to SNTB1.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTCACCTGTTTTCTTCCTCA	0.453																																						dbGAP											0													58.0	53.0	54.0					X																	31187564		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10549A>T	X.37:g.31187564T>A	ENSP00000354923:p.Asn3517Tyr		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.N3517Y	ENST00000357033.4	37	c.10549	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.379252|4.379252	0.82682|0.82682	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471	.|D;D;D;D;D;D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.37261	.|U	.|0.002167	D|D	0.93387|0.93387	0.7891|0.7891	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.998;0.999;0.999;1.0;1.0;1.0;0.997;0.997;0.998;0.997;0.993;0.999;0.999	.|D;D;D;D;D;D;D;D;D;D;P;D;D	.|0.85130	.|0.979;0.921;0.921;0.997;0.997;0.992;0.929;0.929;0.976;0.994;0.883;0.937;0.996	D|D	0.93850|0.93850	0.7144|0.7144	5|9	.|.	.|.	.|.	.|.	14.0773|14.0773	0.64897|0.64897	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3509;3517;3513;2176;2173;1044;1057;1057;3394;436;449;436;449	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.	I|Y	1245|3509;2176;2173;449;1200;3513;3517;1044;3517;3394;1057;449;1057;436	.|ENSP00000367997:N449Y;ENSP00000350765:N1200Y;ENSP00000367948:N3513Y;ENSP00000354923:N3517Y;ENSP00000352894:N1044Y;ENSP00000367979:N1057Y;ENSP00000367974:N449Y;ENSP00000417123:N1057Y;ENSP00000354464:N436Y	.|.	K|N	-|-	2|1	0|0	DMD|DMD	31097485|31097485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	1.899000|1.899000	0.54978|0.54978	0.486000|0.486000	0.48141|0.48141	AAA|AAC	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.453	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	67	0.00	0	T	NM_004006		31187564	31187564	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	31187564	31187564	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:31187564T>A	ENST00000357033.4	-	74	10755	c.10549A>T	c.(10549-10551)Aac>Tac	p.N3517Y	DMD_ENST00000378680.2_Intron|DMD_ENST00000343523.2_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000361471.4_Missense_Mutation_p.N436Y|DMD_ENST00000474231.1_Missense_Mutation_p.N1057Y|DMD_ENST00000378707.3_Missense_Mutation_p.N1057Y|DMD_ENST00000359836.1_Missense_Mutation_p.N1044Y|DMD_ENST00000378723.3_Missense_Mutation_p.N449Y|DMD_ENST00000378702.4_Missense_Mutation_p.N449Y|DMD_ENST00000378677.2_Missense_Mutation_p.N3513Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3517	Binds to SNTB1.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTCACCTGTTTTCTTCCTCA	0.453																																						dbGAP											0													58.0	53.0	54.0					X																	31187564		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10549A>T	X.37:g.31187564T>A	ENSP00000354923:p.Asn3517Tyr		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.N3517Y	ENST00000357033.4	37	c.10549	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.379252|4.379252	0.82682|0.82682	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471	.|D;D;D;D;D;D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.37261	.|U	.|0.002167	D|D	0.93387|0.93387	0.7891|0.7891	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.998;0.999;0.999;1.0;1.0;1.0;0.997;0.997;0.998;0.997;0.993;0.999;0.999	.|D;D;D;D;D;D;D;D;D;D;P;D;D	.|0.85130	.|0.979;0.921;0.921;0.997;0.997;0.992;0.929;0.929;0.976;0.994;0.883;0.937;0.996	D|D	0.93850|0.93850	0.7144|0.7144	5|9	.|.	.|.	.|.	.|.	14.0773|14.0773	0.64897|0.64897	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3509;3517;3513;2176;2173;1044;1057;1057;3394;436;449;436;449	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.	I|Y	1245|3509;2176;2173;449;1200;3513;3517;1044;3517;3394;1057;449;1057;436	.|ENSP00000367997:N449Y;ENSP00000350765:N1200Y;ENSP00000367948:N3513Y;ENSP00000354923:N3517Y;ENSP00000352894:N1044Y;ENSP00000367979:N1057Y;ENSP00000367974:N449Y;ENSP00000417123:N1057Y;ENSP00000354464:N436Y	.|.	K|N	-|-	2|1	0|0	DMD|DMD	31097485|31097485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	1.899000|1.899000	0.54978|0.54978	0.486000|0.486000	0.48141|0.48141	AAA|AAC	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.453	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	23	0.00	0	T	NM_004006		31187564	31187564	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	1.000	A
DNAJA4	55466	genome.wustl.edu	37	15	78565507	78565507	+	Silent	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr15:78565507C>T	ENST00000394852.3	+	3	574	c.384C>T	c.(382-384)gcC>gcT	p.A128A	DNAJA4_ENST00000446172.2_Silent_p.A101A|DNAJA4_ENST00000343789.3_Silent_p.A128A|DNAJA4_ENST00000394855.3_Silent_p.A157A	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	128					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AGAAATTGGCCCTCCAGAAAA	0.358																																						dbGAP											0													82.0	86.0	85.0					15																	78565507		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.384C>T	15.37:g.78565507C>T			E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.A157	ENST00000394852.3	37	c.471	CCDS45316.1	15																																																																																			DNAJA4	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000140403		0.358	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA4	HGNC	protein_coding	OTTHUMT00000289801.1	27	0.00	0	C	NM_018602		78565507	78565507	+1	no_errors	ENST00000394855	ensembl	human	known	69_37n	silent	18	43.75	14	SNP	0.176	T
DNAJA4	55466	genome.wustl.edu	37	15	78565507	78565507	+	Silent	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr15:78565507C>T	ENST00000394852.3	+	3	574	c.384C>T	c.(382-384)gcC>gcT	p.A128A	DNAJA4_ENST00000446172.2_Silent_p.A101A|DNAJA4_ENST00000343789.3_Silent_p.A128A|DNAJA4_ENST00000394855.3_Silent_p.A157A	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	128					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AGAAATTGGCCCTCCAGAAAA	0.358																																						dbGAP											0													82.0	86.0	85.0					15																	78565507		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.384C>T	15.37:g.78565507C>T			E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.A157	ENST00000394852.3	37	c.471	CCDS45316.1	15																																																																																			DNAJA4	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000140403		0.358	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA4	HGNC	protein_coding	OTTHUMT00000289801.1	16	0.00	0	C	NM_018602		78565507	78565507	+1	no_errors	ENST00000394855	ensembl	human	known	69_37n	silent	18	43.75	14	SNP	0.176	T
DSCAM	1826	genome.wustl.edu	37	21	41710136	41710136	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr21:41710136G>A	ENST00000400454.1	-	8	2152	c.1675C>T	c.(1675-1677)Ctt>Ttt	p.L559F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	559	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAAGTTTAAGAGTTCCATTG	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													169.0	159.0	162.0					21																	41710136		1961	4146	6107	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1675C>T	21.37:g.41710136G>A	ENSP00000383303:p.Leu559Phe		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L559F	ENST00000400454.1	37	c.1675	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626591	0.46840	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	D;D	0.92048	-2.96;-2.96	5.77	3.64	0.41730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.96309	0.8796	M	0.93978	3.48	0.33870	D	0.634867	D	0.71674	0.998	D	0.72338	0.977	D	0.97614	1.0131	10	0.59425	D	0.04	.	9.1802	0.37136	0.3199:0.0:0.6801:0.0	.	559	O60469	DSCAM_HUMAN	F	559;311	ENSP00000383303:L559F;ENSP00000385342:L311F	ENSP00000383303:L559F	L	-	1	0	DSCAM	40632006	0.999000	0.42202	0.414000	0.26521	0.735000	0.41995	2.881000	0.48538	1.444000	0.47605	0.655000	0.94253	CTT	DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000171587		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	145	0.68	1	G	NM_001389		41710136	41710136	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	57	45.19	47	SNP	0.392	A
DSCAM	1826	genome.wustl.edu	37	21	41710136	41710136	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr21:41710136G>A	ENST00000400454.1	-	8	2152	c.1675C>T	c.(1675-1677)Ctt>Ttt	p.L559F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	559	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAAGTTTAAGAGTTCCATTG	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													169.0	159.0	162.0					21																	41710136		1961	4146	6107	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1675C>T	21.37:g.41710136G>A	ENSP00000383303:p.Leu559Phe		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L559F	ENST00000400454.1	37	c.1675	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626591	0.46840	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	D;D	0.92048	-2.96;-2.96	5.77	3.64	0.41730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.96309	0.8796	M	0.93978	3.48	0.33870	D	0.634867	D	0.71674	0.998	D	0.72338	0.977	D	0.97614	1.0131	10	0.59425	D	0.04	.	9.1802	0.37136	0.3199:0.0:0.6801:0.0	.	559	O60469	DSCAM_HUMAN	F	559;311	ENSP00000383303:L559F;ENSP00000385342:L311F	ENSP00000383303:L559F	L	-	1	0	DSCAM	40632006	0.999000	0.42202	0.414000	0.26521	0.735000	0.41995	2.881000	0.48538	1.444000	0.47605	0.655000	0.94253	CTT	DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000171587		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	59	0.00	0	G	NM_001389		41710136	41710136	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	57	45.19	47	SNP	0.392	A
FAM115C	285966	genome.wustl.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)ctcfs	p.L418fs	FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.53																																						dbGAP											0									,,	39,207		18,3,102					,,	-7.1	0.0			1	22,442		10,2,220	no	frameshift,frameshift,frameshift	FAM115C	NM_173678.2,NM_001130026.2,NM_001130025.1	,,	28,5,322	A1A1,A1R,RR		4.7414,15.8537,8.5915	,,	,,		61,649				-	-	-	SO:0001589	frameshift_variant	0			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1252_1253delCT	7.37:g.143417408_143417409delCT	ENSP00000404265:p.Leu418fs		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Frame_Shift_Del	DEL	NULL	p.Q420fs	ENST00000441159.2	37	c.1252_1253		7																																																																																			FAM115C	-	NULL	ENSG00000170379		0.530	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	8	0.00	0	CT	NM_173678		143417404	143417405	+1	no_errors	ENST00000441159	ensembl	human	known	69_37n	frame_shift_del	11	35.29	6	DEL	0.084:0.101	-
FAM220A	84792	genome.wustl.edu	37	7	6370532	6370532	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr7:6370532T>A	ENST00000313324.4	-	2	721	c.254A>T	c.(253-255)tAt>tTt	p.Y85F	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	85						nucleus (GO:0005634)											TTCTCTCACATATGGAAGCAC	0.532																																						dbGAP											0													30.0	33.0	32.0					7																	6370532		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.254A>T	7.37:g.6370532T>A	ENSP00000317289:p.Tyr85Phe		Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	NULL	p.Y85F	ENST00000313324.4	37	c.254	CCDS34599.1	7	.	.	.	.	.	.	.	.	.	.	T	9.153	1.016858	0.19355	.	.	ENSG00000178397	ENST00000313324;ENST00000524898;ENST00000530143	T;T;T	0.08634	3.07;3.07;3.07	5.32	-9.59	0.00556	.	0.998926	0.08098	U	0.998227	T	0.04861	0.0131	L	0.34521	1.04	0.09310	N	1	P	0.39157	0.662	B	0.42422	0.387	T	0.15954	-1.0419	10	0.12103	T	0.63	0.9196	4.1018	0.10017	0.1053:0.2919:0.4296:0.1731	.	85	Q7Z4H9	SIPAR_HUMAN	F	85	ENSP00000317289:Y85F;ENSP00000432444:Y85F;ENSP00000436886:Y85F	ENSP00000317289:Y85F	Y	-	2	0	C7orf70	6337057	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.743000	0.04845	-1.576000	0.01652	0.533000	0.62120	TAT	FAM220A	-	NULL	ENSG00000178397		0.532	FAM220A-001	KNOWN	basic|CCDS	protein_coding	FAM220A	HGNC	protein_coding	OTTHUMT00000242853.2	128	0.78	1	T	NM_001037163		6370532	6370532	-1	no_errors	ENST00000313324	ensembl	human	known	69_37n	missense	92	28.12	36	SNP	0.000	A
FAM220A	84792	genome.wustl.edu	37	7	6370532	6370532	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr7:6370532T>A	ENST00000313324.4	-	2	721	c.254A>T	c.(253-255)tAt>tTt	p.Y85F	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	85						nucleus (GO:0005634)											TTCTCTCACATATGGAAGCAC	0.532																																						dbGAP											0													30.0	33.0	32.0					7																	6370532		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.254A>T	7.37:g.6370532T>A	ENSP00000317289:p.Tyr85Phe		Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	NULL	p.Y85F	ENST00000313324.4	37	c.254	CCDS34599.1	7	.	.	.	.	.	.	.	.	.	.	T	9.153	1.016858	0.19355	.	.	ENSG00000178397	ENST00000313324;ENST00000524898;ENST00000530143	T;T;T	0.08634	3.07;3.07;3.07	5.32	-9.59	0.00556	.	0.998926	0.08098	U	0.998227	T	0.04861	0.0131	L	0.34521	1.04	0.09310	N	1	P	0.39157	0.662	B	0.42422	0.387	T	0.15954	-1.0419	10	0.12103	T	0.63	0.9196	4.1018	0.10017	0.1053:0.2919:0.4296:0.1731	.	85	Q7Z4H9	SIPAR_HUMAN	F	85	ENSP00000317289:Y85F;ENSP00000432444:Y85F;ENSP00000436886:Y85F	ENSP00000317289:Y85F	Y	-	2	0	C7orf70	6337057	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.743000	0.04845	-1.576000	0.01652	0.533000	0.62120	TAT	FAM220A	-	NULL	ENSG00000178397		0.532	FAM220A-001	KNOWN	basic|CCDS	protein_coding	FAM220A	HGNC	protein_coding	OTTHUMT00000242853.2	47	0.00	0	T	NM_001037163		6370532	6370532	-1	no_errors	ENST00000313324	ensembl	human	known	69_37n	missense	92	28.12	36	SNP	0.000	A
PRR36	80164	genome.wustl.edu	37	19	7936566	7936566	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:7936566C>A	ENST00000539422.1	-	5	1726	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y	CTD-3193O13.9_ENST00000593356.1_Intron|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					AGAGGAGAGTCCTGCAGAGGA	0.617																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000539422.1:c.1564G>T	19.37:g.7936566C>A	ENSP00000438970:p.Asp522Tyr			Missense_Mutation	SNP	NULL	p.D522Y	ENST00000539422.1	37	c.1564		19	.	.	.	.	.	.	.	.	.	.	C	8.836	0.941116	0.18281	.	.	ENSG00000183248	ENST00000539422	.	.	.	4.05	3.01	0.34805	.	.	.	.	.	T	0.35068	0.0919	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.18777	-1.0326	6	0.48119	T	0.1	.	8.2176	0.31521	0.0:0.8839:0.0:0.1161	.	.	.	.	Y	522	.	ENSP00000438970:D522Y	D	-	1	0	AC010336.1	7842566	0.022000	0.18835	0.022000	0.16811	0.004000	0.04260	1.562000	0.36353	0.846000	0.35142	-0.455000	0.05494	GAC	AC010336.1	-	NULL	ENSG00000183248		0.617	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Clone_based_ensembl_gene	protein_coding		107	0.00	0	C			7936566	7936566	-1	no_errors	ENST00000539422	ensembl	human	known	69_37n	missense	52	34.18	27	SNP	0.557	A
PRR36	80164	genome.wustl.edu	37	19	7936566	7936566	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:7936566C>A	ENST00000539422.1	-	5	1726	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y	CTD-3193O13.9_ENST00000593356.1_Intron|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					AGAGGAGAGTCCTGCAGAGGA	0.617																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000539422.1:c.1564G>T	19.37:g.7936566C>A	ENSP00000438970:p.Asp522Tyr			Missense_Mutation	SNP	NULL	p.D522Y	ENST00000539422.1	37	c.1564		19	.	.	.	.	.	.	.	.	.	.	C	8.836	0.941116	0.18281	.	.	ENSG00000183248	ENST00000539422	.	.	.	4.05	3.01	0.34805	.	.	.	.	.	T	0.35068	0.0919	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.18777	-1.0326	6	0.48119	T	0.1	.	8.2176	0.31521	0.0:0.8839:0.0:0.1161	.	.	.	.	Y	522	.	ENSP00000438970:D522Y	D	-	1	0	AC010336.1	7842566	0.022000	0.18835	0.022000	0.16811	0.004000	0.04260	1.562000	0.36353	0.846000	0.35142	-0.455000	0.05494	GAC	AC010336.1	-	NULL	ENSG00000183248		0.617	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Clone_based_ensembl_gene	protein_coding		53	0.00	0	C			7936566	7936566	-1	no_errors	ENST00000539422	ensembl	human	known	69_37n	missense	52	34.18	27	SNP	0.557	A
FBN3	84467	genome.wustl.edu	37	19	8131064	8131064	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:8131064G>A	ENST00000600128.1	-	64	8583	c.8169C>T	c.(8167-8169)atC>atT	p.I2723I	FBN3_ENST00000270509.2_Silent_p.I2723I|FBN3_ENST00000601739.1_Silent_p.I2723I			Q75N90	FBN3_HUMAN	fibrillin 3	2723						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I2723I(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAGCTCCAGGATGCGCTCGG	0.652																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											23.0	22.0	22.0					19																	8131064		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8169C>T	19.37:g.8131064G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.I2723	ENST00000600128.1	37	c.8169	CCDS12196.1	19																																																																																			FBN3	-	pirsf_Fibrillin	ENSG00000142449		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	81	0.00	0	G	NM_032447		8131064	8131064	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	silent	45	40.79	31	SNP	0.991	A
FBN3	84467	genome.wustl.edu	37	19	8131064	8131064	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:8131064G>A	ENST00000600128.1	-	64	8583	c.8169C>T	c.(8167-8169)atC>atT	p.I2723I	FBN3_ENST00000270509.2_Silent_p.I2723I|FBN3_ENST00000601739.1_Silent_p.I2723I			Q75N90	FBN3_HUMAN	fibrillin 3	2723						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I2723I(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAGCTCCAGGATGCGCTCGG	0.652																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											23.0	22.0	22.0					19																	8131064		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8169C>T	19.37:g.8131064G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.I2723	ENST00000600128.1	37	c.8169	CCDS12196.1	19																																																																																			FBN3	-	pirsf_Fibrillin	ENSG00000142449		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	42	0.00	0	G	NM_032447		8131064	8131064	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	silent	45	40.79	31	SNP	0.991	A
FOXD4L3	286380	genome.wustl.edu	37	9	70918118	70918118	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr9:70918118C>T	ENST00000342833.2	+	1	843	c.251C>T	c.(250-252)tCa>tTa	p.S84L		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	84						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		AGCGACCCCTCAGAGTTTGGC	0.701																																						dbGAP											0													1.0	1.0	1.0					9																	70918118		4	27	31	-	-	-	SO:0001583	missense	0			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.251C>T	9.37:g.70918118C>T	ENSP00000341961:p.Ser84Leu		Q5JTX9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S84L	ENST00000342833.2	37	c.251	CCDS43833.1	9	.	.	.	.	.	.	.	.	.	.	.	14.09	2.430927	0.43122	.	.	ENSG00000187559	ENST00000342833	D	0.94613	-3.47	3.72	3.72	0.42706	.	0.235979	0.21380	U	0.075483	D	0.88328	0.6407	L	0.27053	0.805	0.09310	N	0.999999	B	0.25312	0.123	B	0.21917	0.037	T	0.80719	-0.1257	10	0.52906	T	0.07	.	7.5518	0.27802	0.0:0.8753:0.0:0.1247	.	84	Q6VB84	FX4L3_HUMAN	L	84	ENSP00000341961:S84L	ENSP00000341961:S84L	S	+	2	0	FOXD4L3	70107938	0.046000	0.20272	0.003000	0.11579	0.051000	0.14879	3.067000	0.50010	1.774000	0.52232	0.455000	0.32223	TCA	FOXD4L3	-	NULL	ENSG00000187559		0.701	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	HGNC	protein_coding	OTTHUMT00000052539.2	12	0.00	0	C	NM_199358		70918118	70918118	+1	no_errors	ENST00000342833	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.021	T
GAP43	2596	genome.wustl.edu	37	3	115395122	115395122	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr3:115395122C>A	ENST00000305124.6	+	2	659	c.293C>A	c.(292-294)cCt>cAt	p.P98H	GAP43_ENST00000393780.3_Missense_Mutation_p.P134H	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	98					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGCTCCAAGCCTGATGAGCCC	0.602																																						dbGAP											0													44.0	47.0	46.0					3																	115395122		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.293C>A	3.37:g.115395122C>A	ENSP00000305010:p.Pro98His		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS	p.P98H	ENST00000305124.6	37	c.293	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	C	8.560	0.877657	0.17395	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.44881	0.91;0.91	4.92	4.92	0.64577	Neuromodulin (GAP-43), C-terminal (1);	0.955112	0.08828	N	0.887707	T	0.45895	0.1365	L	0.40543	1.245	0.09310	N	1	P;P	0.42941	0.794;0.602	P;B	0.50791	0.65;0.353	T	0.32798	-0.9893	10	0.46703	T	0.11	0.8121	7.8165	0.29263	0.1628:0.7536:0.0:0.0836	.	134;98	A8K0Y4;P17677	.;NEUM_HUMAN	H	98;134	ENSP00000305010:P98H;ENSP00000377372:P134H	ENSP00000305010:P98H	P	+	2	0	GAP43	116877812	0.002000	0.14202	0.226000	0.23910	0.035000	0.12851	0.935000	0.28924	2.547000	0.85894	0.655000	0.94253	CCT	GAP43	-	pfam_Neuromodulin_C	ENSG00000172020		0.602	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	39	0.00	0	C	NM_002045		115395122	115395122	+1	no_errors	ENST00000305124	ensembl	human	known	69_37n	missense	56	30.86	25	SNP	0.003	A
GPR141	353345	genome.wustl.edu	37	7	37780220	37780220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr7:37780220C>A	ENST00000447769.1	+	4	514	c.225C>A	c.(223-225)taC>taA	p.Y75*	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Nonsense_Mutation_p.Y75*|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTTGACCTACCTCATCAAGA	0.493																																						dbGAP											0													98.0	84.0	88.0					7																	37780220		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.225C>A	7.37:g.37780220C>A	ENSP00000390410:p.Tyr75*		A4D1X7|Q0VAR5|Q86SP3	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y75*	ENST00000447769.1	37	c.225	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.389006	0.97529	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	.	.	.	5.27	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7956	9.8152	0.40849	0.0:0.8079:0.0:0.1921	.	.	.	.	X	75	.	ENSP00000334540:Y75X	Y	+	3	2	GPR141	37746745	0.997000	0.39634	0.947000	0.38551	0.883000	0.51084	0.537000	0.23144	0.524000	0.28502	0.650000	0.86243	TAC	GPR141	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187037		0.493	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	31	0.00	0	C	NM_181791		37780220	37780220	+1	no_errors	ENST00000334425	ensembl	human	known	69_37n	nonsense	40	32.20	19	SNP	1.000	A
GPR158	57512	genome.wustl.edu	37	10	25883312	25883312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr10:25883312delC	ENST00000376351.3	+	9	2343	c.1984delC	c.(1984-1986)cttfs	p.L663fs	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	663					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATTGGGTTGCTTTTGATTCC	0.338																																						dbGAP											0													181.0	167.0	171.0					10																	25883312		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1984delC	10.37:g.25883312delC	ENSP00000365529:p.Leu663fs		Q6QR81|Q9ULT3	Frame_Shift_Del	DEL	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.L662fs	ENST00000376351.3	37	c.1984	CCDS31166.1	10																																																																																			GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000151025		0.338	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	20	0.00	0	C	XM_166110		25883312	25883312	+1	no_errors	ENST00000376351	ensembl	human	known	69_37n	frame_shift_del	17	37.50	12	DEL	1.000	-
GPR158	57512	genome.wustl.edu	37	10	25883312	25883312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr10:25883312delC	ENST00000376351.3	+	9	2343	c.1984delC	c.(1984-1986)cttfs	p.L663fs	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	663					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATTGGGTTGCTTTTGATTCC	0.338																																						dbGAP											0													181.0	167.0	171.0					10																	25883312		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1984delC	10.37:g.25883312delC	ENSP00000365529:p.Leu663fs		Q6QR81|Q9ULT3	Frame_Shift_Del	DEL	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.L662fs	ENST00000376351.3	37	c.1984	CCDS31166.1	10																																																																																			GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000151025		0.338	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	60	0.00	0	C	XM_166110		25883312	25883312	+1	no_errors	ENST00000376351	ensembl	human	known	69_37n	frame_shift_del	17	37.50	12	DEL	1.000	-
GPR158	57512	genome.wustl.edu	37	10	25883313	25883313	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr10:25883313T>A	ENST00000376351.3	+	9	2344	c.1985T>A	c.(1984-1986)cTt>cAt	p.L662H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	662					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATTGGGTTGCTTTTGATTCCA	0.343																																						dbGAP											0													180.0	166.0	171.0					10																	25883313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1985T>A	10.37:g.25883313T>A	ENSP00000365529:p.Leu662His		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.L662H	ENST00000376351.3	37	c.1985	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437474	0.83885	.	.	ENSG00000151025	ENST00000376351	D	0.88818	-2.43	5.77	5.77	0.91146	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000009	D	0.94155	0.8125	M	0.75447	2.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94734	0.7912	10	0.87932	D	0	.	16.0897	0.81084	0.0:0.0:0.0:1.0	.	662	Q5T848	GP158_HUMAN	H	662	ENSP00000365529:L662H	ENSP00000365529:L662H	L	+	2	0	GPR158	25923319	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.370000	0.79589	2.187000	0.69744	0.528000	0.53228	CTT	GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000151025		0.343	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	62	0.00	0	T	XM_166110		25883313	25883313	+1	no_errors	ENST00000376351	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	1.000	A
GPR158	57512	genome.wustl.edu	37	10	25883313	25883313	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr10:25883313T>A	ENST00000376351.3	+	9	2344	c.1985T>A	c.(1984-1986)cTt>cAt	p.L662H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	662					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATTGGGTTGCTTTTGATTCCA	0.343																																						dbGAP											0													180.0	166.0	171.0					10																	25883313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1985T>A	10.37:g.25883313T>A	ENSP00000365529:p.Leu662His		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.L662H	ENST00000376351.3	37	c.1985	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437474	0.83885	.	.	ENSG00000151025	ENST00000376351	D	0.88818	-2.43	5.77	5.77	0.91146	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000009	D	0.94155	0.8125	M	0.75447	2.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94734	0.7912	10	0.87932	D	0	.	16.0897	0.81084	0.0:0.0:0.0:1.0	.	662	Q5T848	GP158_HUMAN	H	662	ENSP00000365529:L662H	ENSP00000365529:L662H	L	+	2	0	GPR158	25923319	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.370000	0.79589	2.187000	0.69744	0.528000	0.53228	CTT	GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000151025		0.343	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	20	0.00	0	T	XM_166110		25883313	25883313	+1	no_errors	ENST00000376351	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	1.000	A
GRAMD3	65983	genome.wustl.edu	37	5	125821464	125821464	+	Splice_Site	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr5:125821464G>C	ENST00000285689.3	+	11	1518	c.1057G>C	c.(1057-1059)Gtt>Ctt	p.V353L	GRAMD3_ENST00000513040.1_Splice_Site_p.V368L|GRAMD3_ENST00000542322.1_Splice_Site_p.V361L|GRAMD3_ENST00000515200.1_Splice_Site_p.V331L|GRAMD3_ENST00000502348.1_Splice_Site_p.V244L|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Splice_Site_p.V249L|GRAMD3_ENST00000511134.1_Splice_Site_p.V337L|GRAMD3_ENST00000543198.1_Splice_Site_p.V331L|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	353						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CTATGCAATTGTGTAAGTACA	0.363																																						dbGAP											0													105.0	96.0	99.0					5																	125821464		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1058+1G>C	5.37:g.125821464G>C			B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.V361L	ENST00000285689.3	37	c.1081	CCDS4136.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.157|0.157	-1.085363|-1.085363	0.01873|0.01873	.|.	.|.	ENSG00000155324|ENSG00000155324	ENST00000543367|ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	.|T;T;T;T;T;T;T;T	.|0.23754	.|1.91;1.98;2.06;1.89;2.12;2.13;2.13;2.07	5.94|5.94	3.14|3.14	0.36123|0.36123	.|.	.|0.430836	.|0.26187	.|N	.|0.025827	T|T	0.08492|0.08492	0.0211|0.0211	N|N	0.05078|0.05078	-0.115|-0.115	0.23371|0.23371	N|N	0.997816|0.997816	.|B;B;B;B;B	.|0.13145	.|0.001;0.0;0.002;0.007;0.001	.|B;B;B;B;B	.|0.08055	.|0.003;0.0;0.003;0.003;0.002	T|T	0.37549|0.37549	-0.9701|-0.9701	6|10	0.46703|0.02654	T|T	0.11|1	.|.	5.0367|5.0367	0.14438|0.14438	0.2557:0.1974:0.5469:0.0|0.2557:0.1974:0.5469:0.0	.|.	.|337;249;361;368;353	.|B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.|.;.;.;.;GRAM3_HUMAN	F|L	288|368;353;331;361;249;331;244;337	.|ENSP00000426120:V368L;ENSP00000285689:V353L;ENSP00000426143:V331L;ENSP00000441876:V361L;ENSP00000444049:V249L;ENSP00000442902:V331L;ENSP00000427596:V244L;ENSP00000426088:V337L	ENSP00000445954:L288F|ENSP00000285689:V353L	L|V	+|+	3|1	2|0	GRAMD3|GRAMD3	125849363|125849363	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.202000|0.202000	0.24057|0.24057	0.551000|0.551000	0.23361|0.23361	0.810000|0.810000	0.34279|0.34279	0.561000|0.561000	0.74099|0.74099	TTG|GTT	GRAMD3	-	NULL	ENSG00000155324		0.363	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD3	HGNC	protein_coding	OTTHUMT00000250922.2	60	0.00	0	G	NM_023927	Missense_Mutation	125821464	125821464	+1	no_errors	ENST00000542322	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	1.000	C
GRAMD3	65983	genome.wustl.edu	37	5	125821464	125821464	+	Splice_Site	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr5:125821464G>C	ENST00000285689.3	+	11	1518	c.1057G>C	c.(1057-1059)Gtt>Ctt	p.V353L	GRAMD3_ENST00000513040.1_Splice_Site_p.V368L|GRAMD3_ENST00000542322.1_Splice_Site_p.V361L|GRAMD3_ENST00000515200.1_Splice_Site_p.V331L|GRAMD3_ENST00000502348.1_Splice_Site_p.V244L|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Splice_Site_p.V249L|GRAMD3_ENST00000511134.1_Splice_Site_p.V337L|GRAMD3_ENST00000543198.1_Splice_Site_p.V331L|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	353						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CTATGCAATTGTGTAAGTACA	0.363																																						dbGAP											0													105.0	96.0	99.0					5																	125821464		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1058+1G>C	5.37:g.125821464G>C			B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.V361L	ENST00000285689.3	37	c.1081	CCDS4136.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.157|0.157	-1.085363|-1.085363	0.01873|0.01873	.|.	.|.	ENSG00000155324|ENSG00000155324	ENST00000543367|ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	.|T;T;T;T;T;T;T;T	.|0.23754	.|1.91;1.98;2.06;1.89;2.12;2.13;2.13;2.07	5.94|5.94	3.14|3.14	0.36123|0.36123	.|.	.|0.430836	.|0.26187	.|N	.|0.025827	T|T	0.08492|0.08492	0.0211|0.0211	N|N	0.05078|0.05078	-0.115|-0.115	0.23371|0.23371	N|N	0.997816|0.997816	.|B;B;B;B;B	.|0.13145	.|0.001;0.0;0.002;0.007;0.001	.|B;B;B;B;B	.|0.08055	.|0.003;0.0;0.003;0.003;0.002	T|T	0.37549|0.37549	-0.9701|-0.9701	6|10	0.46703|0.02654	T|T	0.11|1	.|.	5.0367|5.0367	0.14438|0.14438	0.2557:0.1974:0.5469:0.0|0.2557:0.1974:0.5469:0.0	.|.	.|337;249;361;368;353	.|B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.|.;.;.;.;GRAM3_HUMAN	F|L	288|368;353;331;361;249;331;244;337	.|ENSP00000426120:V368L;ENSP00000285689:V353L;ENSP00000426143:V331L;ENSP00000441876:V361L;ENSP00000444049:V249L;ENSP00000442902:V331L;ENSP00000427596:V244L;ENSP00000426088:V337L	ENSP00000445954:L288F|ENSP00000285689:V353L	L|V	+|+	3|1	2|0	GRAMD3|GRAMD3	125849363|125849363	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.202000|0.202000	0.24057|0.24057	0.551000|0.551000	0.23361|0.23361	0.810000|0.810000	0.34279|0.34279	0.561000|0.561000	0.74099|0.74099	TTG|GTT	GRAMD3	-	NULL	ENSG00000155324		0.363	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD3	HGNC	protein_coding	OTTHUMT00000250922.2	22	0.00	0	G	NM_023927	Missense_Mutation	125821464	125821464	+1	no_errors	ENST00000542322	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	1.000	C
HCG17	414778	genome.wustl.edu	37	6	30231986	30231986	+	lincRNA	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr6:30231986G>C	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		gtgggacagagaaggtagcta	0.438																																						dbGAP											0																																										-	-	-			0			AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30231986G>C				RNA	SNP	-	NULL	ENST00000453558.1	37	NULL		6																																																																																			HLA-L	-	-	ENSG00000243753		0.438	HCG17-002	KNOWN	basic|exp_conf	lincRNA	HLA-L	HGNC	lincRNA	OTTHUMT00000256054.1	20	0.00	0	G	NR_052012		30231986	30231986	+1	no_errors	ENST00000463348	ensembl	human	known	69_37n	rna	13	48.00	12	SNP	0.005	C
PRAC1	84366	genome.wustl.edu	37	17	46801987	46801987	+	5'Flank	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr17:46801987G>T	ENST00000290294.3	-	0	0				PRAC2_ENST00000422730.2_RNA|MIR3185_ENST00000583892.1_RNA|PRAC2_ENST00000432056.1_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1							nucleus (GO:0005634)											CCAGGCCGCTGGAAGCCTGTA	0.642											OREG0024525	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"""prostate, rectum and colon"""	609819	"""chromosome 17 open reading frame 92"", ""prostate cancer susceptibility candidate"""	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899		17.37:g.46801987G>T	Exception_encountered	942		RNA	SNP	-	NULL	ENST00000290294.3	37	NULL	CCDS11535.1	17																																																																																			HOXB-AS5	-	-	ENSG00000229637		0.642	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB-AS5	HGNC	protein_coding	OTTHUMT00000358086.1	55	0.00	0	G	NM_032391		46801987	46801987	+1	no_errors	ENST00000422730	ensembl	human	known	69_37n	rna	37	43.08	28	SNP	0.001	T
PRAC1	84366	genome.wustl.edu	37	17	46801987	46801987	+	5'Flank	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr17:46801987G>T	ENST00000290294.3	-	0	0				PRAC2_ENST00000422730.2_RNA|MIR3185_ENST00000583892.1_RNA|PRAC2_ENST00000432056.1_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1							nucleus (GO:0005634)											CCAGGCCGCTGGAAGCCTGTA	0.642											OREG0024525	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"""prostate, rectum and colon"""	609819	"""chromosome 17 open reading frame 92"", ""prostate cancer susceptibility candidate"""	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899		17.37:g.46801987G>T	Exception_encountered	942		RNA	SNP	-	NULL	ENST00000290294.3	37	NULL	CCDS11535.1	17																																																																																			HOXB-AS5	-	-	ENSG00000229637		0.642	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB-AS5	HGNC	protein_coding	OTTHUMT00000358086.1	25	0.00	0	G	NM_032391		46801987	46801987	+1	no_errors	ENST00000422730	ensembl	human	known	69_37n	rna	37	43.08	28	SNP	0.001	T
HSD11B1	3290	genome.wustl.edu	37	1	209879174	209879174	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:209879174A>G	ENST00000367028.2	+	3	276	c.107A>G	c.(106-108)aAa>aGa	p.K36R	HSD11B1_ENST00000367027.3_Missense_Mutation_p.K36R|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K36R	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	36					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	CAAGGAAAGAAAGTGATTGTC	0.507																																						dbGAP											0													107.0	106.0	106.0					1																	209879174		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.107A>G	1.37:g.209879174A>G	ENSP00000355995:p.Lys36Arg		B2R9Z1|D3DT89	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.K36R	ENST00000367028.2	37	c.107	CCDS1489.1	1	.	.	.	.	.	.	.	.	.	.	A	1.914	-0.450020	0.04572	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.87334	-2.24;-2.24;-2.24	4.04	0.305	0.15801	NAD(P)-binding domain (1);	0.172891	0.47093	N	0.000258	T	0.57460	0.2055	N	0.00583	-1.355	0.28086	N	0.931994	B	0.02656	0.0	B	0.04013	0.001	T	0.56226	-0.8014	10	0.17369	T	0.5	.	8.0035	0.30310	0.4863:0.0:0.5137:0.0	.	36	P28845	DHI1_HUMAN	R	36	ENSP00000355995:K36R;ENSP00000261465:K36R;ENSP00000355994:K36R	ENSP00000261465:K36R	K	+	2	0	HSD11B1	207945797	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.250000	0.51445	0.169000	0.19679	0.363000	0.22086	AAA	HSD11B1	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	ENSG00000117594		0.507	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B1	HGNC	protein_coding	OTTHUMT00000088743.2	60	0.00	0	A	NM_005525		209879174	209879174	+1	no_errors	ENST00000261465	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.975	G
HSD11B1	3290	genome.wustl.edu	37	1	209879174	209879174	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:209879174A>G	ENST00000367028.2	+	3	276	c.107A>G	c.(106-108)aAa>aGa	p.K36R	HSD11B1_ENST00000367027.3_Missense_Mutation_p.K36R|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K36R	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	36					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	CAAGGAAAGAAAGTGATTGTC	0.507																																						dbGAP											0													107.0	106.0	106.0					1																	209879174		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.107A>G	1.37:g.209879174A>G	ENSP00000355995:p.Lys36Arg		B2R9Z1|D3DT89	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.K36R	ENST00000367028.2	37	c.107	CCDS1489.1	1	.	.	.	.	.	.	.	.	.	.	A	1.914	-0.450020	0.04572	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.87334	-2.24;-2.24;-2.24	4.04	0.305	0.15801	NAD(P)-binding domain (1);	0.172891	0.47093	N	0.000258	T	0.57460	0.2055	N	0.00583	-1.355	0.28086	N	0.931994	B	0.02656	0.0	B	0.04013	0.001	T	0.56226	-0.8014	10	0.17369	T	0.5	.	8.0035	0.30310	0.4863:0.0:0.5137:0.0	.	36	P28845	DHI1_HUMAN	R	36	ENSP00000355995:K36R;ENSP00000261465:K36R;ENSP00000355994:K36R	ENSP00000261465:K36R	K	+	2	0	HSD11B1	207945797	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.250000	0.51445	0.169000	0.19679	0.363000	0.22086	AAA	HSD11B1	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	ENSG00000117594		0.507	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B1	HGNC	protein_coding	OTTHUMT00000088743.2	36	0.00	0	A	NM_005525		209879174	209879174	+1	no_errors	ENST00000261465	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.975	G
IRF5	3663	genome.wustl.edu	37	7	128587374	128587374	+	Missense_Mutation	SNP	G	G	A	rs199508964|rs113806178|rs60344245	byFrequency	TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr7:128587374G>A	ENST00000402030.2	+	6	596	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	IRF5_ENST00000357234.5_Missense_Mutation_p.R191Q|IRF5_ENST00000473745.1_Missense_Mutation_p.R175Q|IRF5_ENST00000477535.1_Intron|IRF5_ENST00000249375.4_Missense_Mutation_p.R175Q	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	175					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCACTCTGCGGCCGCCTACT	0.657																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											6.0	8.0	7.0					7																	128587374		1947	3850	5797	-	-	-	SO:0001583	missense	0				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.524G>A	7.37:g.128587374G>A	ENSP00000385352:p.Arg175Gln		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.R191Q	ENST00000402030.2	37	c.572	CCDS5808.1	7	628|628	0.2875457875457875|0.2875457875457875	155|155	0.3150406504065041|0.3150406504065041	88|88	0.2430939226519337|0.2430939226519337	148|148	0.25874125874125875|0.25874125874125875	237|237	0.31266490765171506|0.31266490765171506	G|G	0.019|0.019	-1.454282|-1.454282	0.01071|0.01071	.|.	.|.	ENSG00000128604|ENSG00000128604	ENST00000430204|ENST00000357234;ENST00000402030;ENST00000249375;ENST00000473745	.|D;D;D;D	.|0.97256	.|-4.25;-4.31;-4.31;-4.31	.|.	.|.	.|.	.|.	.|5.726080	.|0.00166	.|N	.|0.000000	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	.|B;.	.|0.02656	.|0.0;.	.|B;.	.|0.01281	.|0.0;.	T|T	0.62562|0.62562	-0.6828|-0.6828	3|7	0.06757|0.13470	T|T	0.87|0.59	.|.	.|.	.|.	.|.	.|.	164|175;191	E9PC81|Q13568;Q13568-2	.|IRF5_HUMAN;.	S|Q	164|191;175;175;175	.|ENSP00000349770:R191Q;ENSP00000385352:R175Q;ENSP00000249375:R175Q;ENSP00000419149:R175Q	ENSP00000409106:G164S|ENSP00000249375:R175Q	G|R	+|+	1|2	0|0	IRF5|IRF5	128374610|128374610	0.019000|0.019000	0.18553|0.18553	0.128000|0.128000	0.21923|0.21923	0.042000|0.042000	0.13812|0.13812	-1.450000|-1.450000	0.02390|0.02390	-1.505000|-1.505000	0.01807|0.01807	-1.490000|-1.490000	0.00973|0.00973	GGC|CGG	IRF5	-	NULL	ENSG00000128604		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	HGNC	protein_coding	OTTHUMT00000350934.1	13	0.00	0	G	NM_001098627		128587374	128587374	+1	no_errors	ENST00000357234	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.122	A
KCND1	3750	genome.wustl.edu	37	X	48825564	48825564	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:48825564G>A	ENST00000218176.3	-	1	2412	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	372					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TCACCCAAGCGTGGTCATGGT	0.458																																						dbGAP											0													69.0	56.0	60.0					X																	48825564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1115C>T	X.37:g.48825564G>A	ENSP00000218176:p.Thr372Met		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.T372M	ENST00000218176.3	37	c.1115	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965067	0.74131	.	.	ENSG00000102057	ENST00000218176	D	0.99239	-5.61	5.41	5.41	0.78517	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96859	0.9631	10	0.87932	D	0	.	16.9355	0.86202	0.0:0.0:1.0:0.0	.	372	Q9NSA2	KCND1_HUMAN	M	372	ENSP00000218176:T372M	ENSP00000218176:T372M	T	-	2	0	KCND1	48710508	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.852000	0.99516	2.261000	0.74972	0.550000	0.68814	ACG	KCND1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl	ENSG00000102057		0.458	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	63	0.00	0	G	NM_004979		48825564	48825564	-1	no_errors	ENST00000218176	ensembl	human	known	69_37n	missense	71	20.22	18	SNP	1.000	A
KIAA1467	57613	genome.wustl.edu	37	12	13211404	13211404	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr12:13211404G>T	ENST00000197268.8	+	3	573	c.453G>T	c.(451-453)ttG>ttT	p.L151F		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	151						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTCTCCATTGGAATTGGCTG	0.448																																						dbGAP											0													412.0	385.0	394.0					12																	13211404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.453G>T	12.37:g.13211404G>T	ENSP00000197268:p.Leu151Phe		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.L151F	ENST00000197268.8	37	c.453	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995822	0.54147	.	.	ENSG00000084444	ENST00000197268	T	0.50001	0.76	4.91	4.02	0.46733	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	D	0.000001	T	0.67249	0.2873	M	0.78456	2.415	0.47698	D	0.99949	D	0.89917	1.0	D	0.78314	0.991	T	0.71451	-0.4589	10	0.72032	D	0.01	-4.8748	12.2483	0.54583	0.0815:0.0:0.9185:0.0	.	151	A2RU67	K1467_HUMAN	F	151	ENSP00000197268:L151F	ENSP00000197268:L151F	L	+	3	2	KIAA1467	13102671	1.000000	0.71417	0.580000	0.28601	0.520000	0.34377	5.055000	0.64282	1.283000	0.44513	0.650000	0.86243	TTG	KIAA1467	-	superfamily_Quinonprotein_ADH-like	ENSG00000084444		0.448	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	216	0.46	1	G	NM_020853		13211404	13211404	+1	no_errors	ENST00000197268	ensembl	human	known	69_37n	missense	205	24.07	65	SNP	0.999	T
KIAA1467	57613	genome.wustl.edu	37	12	13211404	13211404	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr12:13211404G>T	ENST00000197268.8	+	3	573	c.453G>T	c.(451-453)ttG>ttT	p.L151F		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	151						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTCTCCATTGGAATTGGCTG	0.448																																						dbGAP											0													412.0	385.0	394.0					12																	13211404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.453G>T	12.37:g.13211404G>T	ENSP00000197268:p.Leu151Phe		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.L151F	ENST00000197268.8	37	c.453	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995822	0.54147	.	.	ENSG00000084444	ENST00000197268	T	0.50001	0.76	4.91	4.02	0.46733	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	D	0.000001	T	0.67249	0.2873	M	0.78456	2.415	0.47698	D	0.99949	D	0.89917	1.0	D	0.78314	0.991	T	0.71451	-0.4589	10	0.72032	D	0.01	-4.8748	12.2483	0.54583	0.0815:0.0:0.9185:0.0	.	151	A2RU67	K1467_HUMAN	F	151	ENSP00000197268:L151F	ENSP00000197268:L151F	L	+	3	2	KIAA1467	13102671	1.000000	0.71417	0.580000	0.28601	0.520000	0.34377	5.055000	0.64282	1.283000	0.44513	0.650000	0.86243	TTG	KIAA1467	-	superfamily_Quinonprotein_ADH-like	ENSG00000084444		0.448	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	100	0.97	1	G	NM_020853		13211404	13211404	+1	no_errors	ENST00000197268	ensembl	human	known	69_37n	missense	205	24.07	65	SNP	0.999	T
KCNH3	23416	genome.wustl.edu	37	12	49949668	49949668	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr12:49949668C>A	ENST00000257981.6	+	12	2662	c.2402C>A	c.(2401-2403)cCa>cAa	p.P801Q	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	801					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCTGCTCCCCCACGGGCCCTA	0.687																																						dbGAP											0													14.0	15.0	15.0					12																	49949668		2202	4296	6498	-	-	-	SO:0001583	missense	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2402C>A	12.37:g.49949668C>A	ENSP00000257981:p.Pro801Gln		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.P801Q	ENST00000257981.6	37	c.2402	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258257	0.39896	.	.	ENSG00000135519	ENST00000257981	D	0.98947	-5.26	4.42	4.42	0.53409	.	0.000000	0.47852	D	0.000206	D	0.97087	0.9048	N	0.08118	0	0.36031	D	0.839383	D	0.71674	0.998	D	0.76071	0.987	D	0.95707	0.8754	10	0.22109	T	0.4	.	12.8289	0.57735	0.0:1.0:0.0:0.0	.	801	Q9ULD8	KCNH3_HUMAN	Q	801	ENSP00000257981:P801Q	ENSP00000257981:P801Q	P	+	2	0	KCNH3	48235935	0.008000	0.16893	1.000000	0.80357	0.904000	0.53231	1.023000	0.30065	2.755000	0.94549	0.655000	0.94253	CCA	KCNH3	-	NULL	ENSG00000135519		0.687	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	55	0.00	0	C	NM_012284		49949668	49949668	+1	no_errors	ENST00000257981	ensembl	human	known	69_37n	missense	38	48.65	36	SNP	1.000	A
KIAA1586	57691	genome.wustl.edu	37	6	56918699	56918699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr6:56918699G>T	ENST00000370733.4	+	4	1609	c.1402G>T	c.(1402-1404)Gaa>Taa	p.E468*	KIAA1586_ENST00000545356.1_Nonsense_Mutation_p.E441*	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	468							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGTAGCTAAAGAACTTGAAAC	0.303																																						dbGAP											0													28.0	30.0	29.0					6																	56918699		2193	4292	6485	-	-	-	SO:0001587	stop_gained	0			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1402G>T	6.37:g.56918699G>T	ENSP00000359768:p.Glu468*		A8K4M3|Q8IW25	Nonsense_Mutation	SNP	superfamily_RNaseH-like_dom	p.E468*	ENST00000370733.4	37	c.1402	CCDS34480.1	6	.	.	.	.	.	.	.	.	.	.	g	35	5.442594	0.96187	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	1.0E-4	11.3202	0.49417	0.0:0.0:1.0:0.0	.	.	.	.	X	468;441	.	ENSP00000359768:E468X	E	+	1	0	KIAA1586	57026658	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	2.395000	0.44459	2.102000	0.63906	0.585000	0.79938	GAA	KIAA1586	-	superfamily_RNaseH-like_dom	ENSG00000168116		0.303	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	18	0.00	0	G	NM_020931		56918699	56918699	+1	no_errors	ENST00000370733	ensembl	human	known	69_37n	nonsense	14	30.00	6	SNP	0.998	T
LRPPRC	10128	genome.wustl.edu	37	2	44173272	44173272	+	Silent	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr2:44173272G>C	ENST00000260665.7	-	21	2247	c.2190C>G	c.(2188-2190)gcC>gcG	p.A730A		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	730					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAAGTTCAAGGCATCTTCTA	0.363																																						dbGAP											0													121.0	119.0	120.0					2																	44173272		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2190C>G	2.37:g.44173272G>C			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.A730	ENST00000260665.7	37	c.2190	CCDS33189.1	2																																																																																			LRPPRC	-	pfam_Pentatricopeptide_repeat	ENSG00000138095		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	76	0.00	0	G	NM_133259		44173272	44173272	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	silent	50	35.90	28	SNP	0.013	C
LRPPRC	10128	genome.wustl.edu	37	2	44173272	44173272	+	Silent	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr2:44173272G>C	ENST00000260665.7	-	21	2247	c.2190C>G	c.(2188-2190)gcC>gcG	p.A730A		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	730					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAAGTTCAAGGCATCTTCTA	0.363																																						dbGAP											0													121.0	119.0	120.0					2																	44173272		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2190C>G	2.37:g.44173272G>C			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.A730	ENST00000260665.7	37	c.2190	CCDS33189.1	2																																																																																			LRPPRC	-	pfam_Pentatricopeptide_repeat	ENSG00000138095		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	43	0.00	0	G	NM_133259		44173272	44173272	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	silent	50	35.90	28	SNP	0.013	C
LIMS1	3987	genome.wustl.edu	37	2	109278695	109278695	+	Intron	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr2:109278695G>A	ENST00000393310.1	+	2	323				LIMS1_ENST00000338045.3_Intron|LIMS1_ENST00000542845.1_Intron|LIMS1_ENST00000332345.6_Intron|LIMS1_ENST00000410093.1_Intron|LIMS1_ENST00000409441.1_Intron|LIMS1_ENST00000544547.1_Intron|LIMS1_ENST00000393314.2_Silent_p.*118*	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1						cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GAACGAACATGATGGTTAAGC	0.537																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.156+2475G>A	2.37:g.109278695G>A			B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.*118	ENST00000393310.1	37	c.353	CCDS2078.1	2																																																																																			LIMS1	-	NULL	ENSG00000169756		0.537	LIMS1-001	KNOWN	basic|CCDS	protein_coding	LIMS1	HGNC	protein_coding	OTTHUMT00000253596.1	468	0.00	0	G	NM_004987		109278695	109278695	+1	no_errors	ENST00000393314	ensembl	human	known	69_37n	silent	204	17.74	44	SNP	0.000	A
LIMS1	3987	genome.wustl.edu	37	2	109278695	109278695	+	Intron	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr2:109278695G>A	ENST00000393310.1	+	2	323				LIMS1_ENST00000338045.3_Intron|LIMS1_ENST00000542845.1_Intron|LIMS1_ENST00000332345.6_Intron|LIMS1_ENST00000410093.1_Intron|LIMS1_ENST00000409441.1_Intron|LIMS1_ENST00000544547.1_Intron|LIMS1_ENST00000393314.2_Silent_p.*118*	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1						cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GAACGAACATGATGGTTAAGC	0.537																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.156+2475G>A	2.37:g.109278695G>A			B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.*118	ENST00000393310.1	37	c.353	CCDS2078.1	2																																																																																			LIMS1	-	NULL	ENSG00000169756		0.537	LIMS1-001	KNOWN	basic|CCDS	protein_coding	LIMS1	HGNC	protein_coding	OTTHUMT00000253596.1	215	0.00	0	G	NM_004987		109278695	109278695	+1	no_errors	ENST00000393314	ensembl	human	known	69_37n	silent	204	17.74	44	SNP	0.000	A
MAGI3	260425	genome.wustl.edu	37	1	114092195	114092195	+	Silent	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:114092195A>T	ENST00000307546.9	+	2	450	c.375A>T	c.(373-375)tcA>tcT	p.S125S	MAGI3_ENST00000369615.1_Silent_p.S125S|MAGI3_ENST00000369617.4_Silent_p.S125S|MAGI3_ENST00000369611.4_Silent_p.S125S|MAGI3_ENST00000486456.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	125	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAGGATCAATTGACCACA	0.343																																						dbGAP											0													91.0	87.0	88.0					1																	114092195		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.375A>T	1.37:g.114092195A>T			Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.S125	ENST00000307546.9	37	c.375	CCDS44196.1	1																																																																																			MAGI3	-	smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000081026		0.343	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	31	0.00	0	A	NM_152900		114092195	114092195	+1	no_errors	ENST00000369611	ensembl	human	known	69_37n	silent	19	53.66	22	SNP	0.881	T
LYST	1130	genome.wustl.edu	37	1	235929455	235929455	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:235929455G>T	ENST00000389794.3	-	21	6219	c.6045C>A	c.(6043-6045)ttC>ttA	p.F2015L	LYST_ENST00000389793.2_Missense_Mutation_p.F2015L|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2015					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTAAAAGGAAATTGAAGA	0.373																																						dbGAP											0													184.0	200.0	194.0					1																	235929455		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6045C>A	1.37:g.235929455G>T	ENSP00000374444:p.Phe2015Leu		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F2015L	ENST00000389794.3	37	c.6045	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726939	0.48833	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66638	-0.22;-0.22	5.14	5.14	0.70334	.	0.093605	0.85682	N	0.000000	T	0.57169	0.2035	L	0.43701	1.375	0.80722	D	1	B	0.27625	0.183	B	0.26693	0.072	T	0.59841	-0.7378	10	0.72032	D	0.01	.	9.6946	0.40150	0.156:0.0:0.844:0.0	.	2015	Q99698	LYST_HUMAN	L	2015	ENSP00000374444:F2015L;ENSP00000374443:F2015L	ENSP00000374443:F2015L	F	-	3	2	LYST	233996078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.778000	0.47726	2.551000	0.86045	0.585000	0.79938	TTC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	27	0.00	0	G			235929455	235929455	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235929455	235929455	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:235929455G>T	ENST00000389794.3	-	21	6219	c.6045C>A	c.(6043-6045)ttC>ttA	p.F2015L	LYST_ENST00000389793.2_Missense_Mutation_p.F2015L|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2015					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTAAAAGGAAATTGAAGA	0.373																																						dbGAP											0													184.0	200.0	194.0					1																	235929455		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6045C>A	1.37:g.235929455G>T	ENSP00000374444:p.Phe2015Leu		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F2015L	ENST00000389794.3	37	c.6045	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726939	0.48833	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66638	-0.22;-0.22	5.14	5.14	0.70334	.	0.093605	0.85682	N	0.000000	T	0.57169	0.2035	L	0.43701	1.375	0.80722	D	1	B	0.27625	0.183	B	0.26693	0.072	T	0.59841	-0.7378	10	0.72032	D	0.01	.	9.6946	0.40150	0.156:0.0:0.844:0.0	.	2015	Q99698	LYST_HUMAN	L	2015	ENSP00000374444:F2015L;ENSP00000374443:F2015L	ENSP00000374443:F2015L	F	-	3	2	LYST	233996078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.778000	0.47726	2.551000	0.86045	0.585000	0.79938	TTC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	10	0.00	0	G			235929455	235929455	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	T
MAN2B1	4125	genome.wustl.edu	37	19	12757384	12757384	+	3'UTR	SNP	T	T	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:12757384T>C	ENST00000456935.2	-	0	3126				CTD-2192J16.22_ENST00000597692.1_3'UTR|MAN2B1_ENST00000221363.4_3'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1						cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGAGTCTGGTCTGCCCCCGG	0.537																																						dbGAP											0													49.0	42.0	44.0					19																	12757384		2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.*50A>G	19.37:g.12757384T>C			G5E928|O15330|Q16680|Q93094|Q9BW13	RNA	SNP	-	NULL	ENST00000456935.2	37	NULL	CCDS32919.1	19																																																																																			MAN2B1	-	-	ENSG00000104774		0.537	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	88	0.00	0	T			12757384	12757384	-1	no_errors	ENST00000480851	ensembl	human	known	69_37n	rna	64	39.05	41	SNP	0.000	C
MAN2B1	4125	genome.wustl.edu	37	19	12757384	12757384	+	3'UTR	SNP	T	T	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:12757384T>C	ENST00000456935.2	-	0	3126				CTD-2192J16.22_ENST00000597692.1_3'UTR|MAN2B1_ENST00000221363.4_3'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1						cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGAGTCTGGTCTGCCCCCGG	0.537																																						dbGAP											0													49.0	42.0	44.0					19																	12757384		2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.*50A>G	19.37:g.12757384T>C			G5E928|O15330|Q16680|Q93094|Q9BW13	RNA	SNP	-	NULL	ENST00000456935.2	37	NULL	CCDS32919.1	19																																																																																			MAN2B1	-	-	ENSG00000104774		0.537	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	49	0.00	0	T			12757384	12757384	-1	no_errors	ENST00000480851	ensembl	human	known	69_37n	rna	64	39.05	41	SNP	0.000	C
MAN2B2	23324	genome.wustl.edu	37	4	6606892	6606892	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr4:6606892G>T	ENST00000285599.3	+	11	1686	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	MAN2B2_ENST00000504248.1_Missense_Mutation_p.E499D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	550					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGGCCCAAGAGGGCACCCAGG	0.612																																						dbGAP											0													57.0	65.0	62.0					4																	6606892		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1650G>T	4.37:g.6606892G>T	ENSP00000285599:p.Glu550Asp		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.E550D	ENST00000285599.3	37	c.1650	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.912|5.912	0.352269|0.352269	0.11182|0.11182	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	D;D|.	0.83673|.	-1.75;-1.75|.	3.59|3.59	-0.436|-0.436	0.12275|0.12275	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	1.308000|.	0.05448|.	N|.	0.548855|.	T|T	0.24084|0.24084	0.0583|0.0583	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;B;B|.	0.13145|.	0.007;0.004;0.002|.	B;B;B|.	0.14023|.	0.01;0.007;0.007|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.13470|.	T|.	0.59|.	-0.0279|-0.0279	3.4143|3.4143	0.07369|0.07369	0.2668:0.0:0.2785:0.4546|0.2668:0.0:0.2785:0.4546	.|.	499;550;550|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	D|M	550;499|549	ENSP00000285599:E550D;ENSP00000423129:E499D|.	ENSP00000285599:E550D|.	E|R	+|+	3|2	2|0	MAN2B2|MAN2B2	6657793|6657793	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.247000|0.247000	0.25773|0.25773	-0.356000|-0.356000	0.07661|0.07661	-0.393000|-0.393000	0.07739|0.07739	0.313000|0.313000	0.20887|0.20887	GAG|AGG	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000013288		0.612	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	22	0.00	0	G	NM_015274		6606892	6606892	+1	no_errors	ENST00000285599	ensembl	human	known	69_37n	missense	13	53.57	15	SNP	0.000	T
MAP3K15	389840	genome.wustl.edu	37	X	19391798	19391798	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:19391798A>T	ENST00000338883.4	-	21	2788	c.2789T>A	c.(2788-2790)gTc>gAc	p.V930D	MAP3K15_ENST00000469203.2_Missense_Mutation_p.V762D|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.V365D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	930							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGCCAGGACGACACCGCGGGG	0.672																																						dbGAP											0													35.0	31.0	32.0					X																	19391798		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2789T>A	X.37:g.19391798A>T	ENSP00000345629:p.Val930Asp		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V930D	ENST00000338883.4	37	c.2789		X	.	.	.	.	.	.	.	.	.	.	a	7.535	0.659480	0.14645	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.24723	1.84;1.84;1.84	4.6	-1.89	0.07689	Protein kinase-like domain (1);	1.618280	0.03092	N	0.159975	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.33413	0.046;0.411	B;B	0.23275	0.015;0.045	T	0.07597	-1.0764	10	0.12766	T	0.61	.	1.5792	0.02631	0.3792:0.1305:0.3602:0.13	.	405;930	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	D	930;365;762	ENSP00000345629:V930D;ENSP00000352093:V365D;ENSP00000428356:V762D	ENSP00000345629:V930D	V	-	2	0	MAP3K15	19301719	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.187000	0.16998	-0.624000	0.05611	-0.509000	0.04479	GTC	MAP3K15	-	superfamily_Kinase-like_dom	ENSG00000180815		0.672	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		96	0.00	0	A	NM_001001671		19391798	19391798	-1	no_errors	ENST00000338883	ensembl	human	known	69_37n	missense	145	26.02	51	SNP	0.000	T
MIR222	407007	genome.wustl.edu	37	X	45605597	45605597	+	RNA	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chrX:45605597C>T	ENST00000384992.1	-	0	110				MIR221_ENST00000385135.1_RNA	NR_029636.1				microRNA 222																		GAACATGTTTCCAGGTAGCCT	0.438																																						dbGAP											0													85.0	66.0	72.0					X																	45605597		1568	3581	5149	-	-	-			0					Xp11.3	2011-09-12		2008-12-18	ENSG00000207725	ENSG00000207725		"""ncRNAs / Micro RNAs"""	31602	non-coding RNA	RNA, micro		300569		MIRN222			Standard	NR_029636		Approved	hsa-mir-222	uc011mlf.1				X.37:g.45605597C>T				RNA	SNP	-	NULL	ENST00000384992.1	37	NULL		X																																																																																			MIR221	-	-	ENSG00000207870		0.438	MIR222-201	KNOWN	basic	miRNA	MIR221	HGNC	miRNA		31	0.00	0	C	NR_029636		45605597	45605597	-1	no_errors	ENST00000385135	ensembl	human	known	69_37n	rna	26	40.91	18	SNP	1.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33952828	33952828	+	lincRNA	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr2:33952828G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCACGAGGAGGATGACCAGGG	0.617																																						dbGAP											0																																										-	-	-			0																															2.37:g.33952828G>T				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.617	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	41	0.00	0	G			33952828	33952828	-1	no_errors	ENST00000474610	ensembl	human	known	69_37n	rna	45	32.84	22	SNP	0.963	T
LINC01317	104355287	genome.wustl.edu	37	2	33952828	33952828	+	lincRNA	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr2:33952828G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCACGAGGAGGATGACCAGGG	0.617																																						dbGAP											0																																										-	-	-			0																															2.37:g.33952828G>T				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.617	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	20	0.00	0	G			33952828	33952828	-1	no_errors	ENST00000474610	ensembl	human	known	69_37n	rna	45	32.84	22	SNP	0.963	T
MYO1F	4542	genome.wustl.edu	37	19	8587613	8587613	+	Silent	SNP	C	C	A	rs201007272		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:8587613C>A	ENST00000338257.8	-	26	3222	c.2955G>T	c.(2953-2955)ccG>ccT	p.P985P		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	985				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058). {ECO:0000305}.	defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGATGTGGACGGAGGGCCCC	0.692																																						dbGAP											0													18.0	20.0	19.0					19																	8587613		1895	4106	6001	-	-	-	SO:0001819	synonymous_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2955G>T	19.37:g.8587613C>A			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain	p.P985	ENST00000338257.8	37	c.2955	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	1.044	-0.677888	0.03378	.	.	ENSG00000142347	ENST00000305795	.	.	.	5.27	-10.4	0.00318	.	0.565717	0.17509	N	0.171720	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61382	-0.7074	6	0.19590	T	0.45	.	12.9493	0.58389	0.0:0.1362:0.0994:0.7644	.	.	.	.	L	1029	.	ENSP00000304899:R1029L	R	-	2	0	MYO1F	8493613	0.000000	0.05858	0.009000	0.14445	0.238000	0.25445	-1.731000	0.01853	-1.526000	0.01760	0.455000	0.32223	CGT	MYO1F	-	NULL	ENSG00000142347		0.692	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	78	0.00	0	C			8587613	8587613	-1	no_errors	ENST00000338257	ensembl	human	known	69_37n	silent	29	36.96	17	SNP	0.001	A
MYO1F	4542	genome.wustl.edu	37	19	8587613	8587613	+	Silent	SNP	C	C	A	rs201007272		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:8587613C>A	ENST00000338257.8	-	26	3222	c.2955G>T	c.(2953-2955)ccG>ccT	p.P985P		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	985				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058). {ECO:0000305}.	defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGATGTGGACGGAGGGCCCC	0.692																																						dbGAP											0													18.0	20.0	19.0					19																	8587613		1895	4106	6001	-	-	-	SO:0001819	synonymous_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2955G>T	19.37:g.8587613C>A			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain	p.P985	ENST00000338257.8	37	c.2955	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	1.044	-0.677888	0.03378	.	.	ENSG00000142347	ENST00000305795	.	.	.	5.27	-10.4	0.00318	.	0.565717	0.17509	N	0.171720	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61382	-0.7074	6	0.19590	T	0.45	.	12.9493	0.58389	0.0:0.1362:0.0994:0.7644	.	.	.	.	L	1029	.	ENSP00000304899:R1029L	R	-	2	0	MYO1F	8493613	0.000000	0.05858	0.009000	0.14445	0.238000	0.25445	-1.731000	0.01853	-1.526000	0.01760	0.455000	0.32223	CGT	MYO1F	-	NULL	ENSG00000142347		0.692	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	38	0.00	0	C			8587613	8587613	-1	no_errors	ENST00000338257	ensembl	human	known	69_37n	silent	29	36.96	17	SNP	0.001	A
NOTCH3	4854	genome.wustl.edu	37	19	15271763	15271765	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	CCC	CCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:15271763_15271765delCCC	ENST00000263388.2	-	33	6749_6751	c.6674_6676delGGG	c.(6673-6678)ggggca>gca	p.G2225del		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2225					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTGCTGTGTGCCCCAGCCGCCGG	0.709																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6674_6676delGGG	19.37:g.15271763_15271765delCCC	ENSP00000263388:p.Gly2225del		Q9UEB3|Q9UPL3|Q9Y6L8	In_Frame_Del	DEL	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.G2225in_frame_del	ENST00000263388.2	37	c.6676_6674	CCDS12326.1	19																																																																																			NOTCH3	-	pfam_DUF3454_notch,pirsf_Notch	ENSG00000074181		0.709	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	23	0.00	0	CCC	NM_000435		15271763	15271765	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	in_frame_del	22	18.52	5	DEL	0.011:0.005:0.007	-
NSF	4905	genome.wustl.edu	37	17	44832925	44832925	+	Intron	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr17:44832925C>T	ENST00000398238.4	+	20	2320				NSF_ENST00000225282.8_Intron|NSF_ENST00000575068.1_Intron	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor						exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGTCCTGCTTCGCAAAACTTC	0.408																																					Ovarian(25;472 742 1472 36813 50223)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.2213+190C>T	17.37:g.44832925C>T			A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	NULL	p.S169L	ENST00000398238.4	37	c.506	CCDS42354.1	17																																																																																			NSF	-	NULL	ENSG00000073969		0.408	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSF	HGNC	protein_coding	OTTHUMT00000259348.2	13	0.00	0	C	NM_006178		44832925	44832925	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465370	ensembl	human	putative	69_37n	missense	5	50.00	5	SNP	1.000	T
NSF	4905	genome.wustl.edu	37	17	44832925	44832925	+	Intron	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr17:44832925C>T	ENST00000398238.4	+	20	2320				NSF_ENST00000225282.8_Intron|NSF_ENST00000575068.1_Intron	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor						exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGTCCTGCTTCGCAAAACTTC	0.408																																					Ovarian(25;472 742 1472 36813 50223)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.2213+190C>T	17.37:g.44832925C>T			A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	NULL	p.S169L	ENST00000398238.4	37	c.506	CCDS42354.1	17																																																																																			NSF	-	NULL	ENSG00000073969		0.408	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSF	HGNC	protein_coding	OTTHUMT00000259348.2	14	0.00	0	C	NM_006178		44832925	44832925	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465370	ensembl	human	putative	69_37n	missense	5	50.00	5	SNP	1.000	T
NTPCR	84284	genome.wustl.edu	37	1	233114054	233114054	+	3'UTR	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:233114054T>A	ENST00000366628.5	+	0	737				NTPCR_ENST00000490098.1_3'UTR	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						CTGTCGAGGCTGTATGCCTAT	0.488																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.*77T>A	1.37:g.233114054T>A				RNA	SNP	-	NULL	ENST00000366628.5	37	NULL	CCDS1597.1	1																																																																																			NTPCR	-	-	ENSG00000135778		0.488	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTPCR	HGNC	protein_coding	OTTHUMT00000092324.2	28	0.00	0	T	NM_032324		233114054	233114054	+1	no_errors	ENST00000490098	ensembl	human	known	69_37n	rna	26	18.75	6	SNP	0.000	A
NTPCR	84284	genome.wustl.edu	37	1	233114054	233114054	+	3'UTR	SNP	T	T	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:233114054T>A	ENST00000366628.5	+	0	737				NTPCR_ENST00000490098.1_3'UTR	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						CTGTCGAGGCTGTATGCCTAT	0.488																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.*77T>A	1.37:g.233114054T>A				RNA	SNP	-	NULL	ENST00000366628.5	37	NULL	CCDS1597.1	1																																																																																			NTPCR	-	-	ENSG00000135778		0.488	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTPCR	HGNC	protein_coding	OTTHUMT00000092324.2	8	0.00	0	T	NM_032324		233114054	233114054	+1	no_errors	ENST00000490098	ensembl	human	known	69_37n	rna	26	18.75	6	SNP	0.000	A
OR52E2	119678	genome.wustl.edu	37	11	5080547	5080547	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr11:5080547A>T	ENST00000321522.2	-	1	310	c.311T>A	c.(310-312)tTt>tAt	p.F104Y		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGGATAAAAAACATCTGGGT	0.473																																						dbGAP											0													71.0	68.0	69.0					11																	5080547		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.311T>A	11.37:g.5080547A>T	ENSP00000322088:p.Phe104Tyr			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F104Y	ENST00000321522.2	37	c.311	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153679	0.38021	.	.	ENSG00000176787	ENST00000321522	T	0.05649	3.41	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.117408	0.38005	N	0.001844	T	0.07503	0.0189	L	0.48877	1.53	0.28456	N	0.91613	B	0.27594	0.182	B	0.32342	0.144	T	0.09015	-1.0694	10	0.59425	D	0.04	.	8.3999	0.32579	0.8244:0.0:0.0:0.1756	.	104	Q8NGJ4	O52E2_HUMAN	Y	104	ENSP00000322088:F104Y	ENSP00000322088:F104Y	F	-	2	0	OR52E2	5037123	0.977000	0.34250	1.000000	0.80357	0.594000	0.36715	2.112000	0.41892	1.966000	0.57179	0.529000	0.55759	TTT	OR52E2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000176787		0.473	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	29	0.00	0	A	NM_001005164		5080547	5080547	-1	no_errors	ENST00000321522	ensembl	human	known	69_37n	missense	30	33.33	15	SNP	1.000	T
OR7C2	26658	genome.wustl.edu	37	19	15053104	15053104	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:15053104G>A	ENST00000248072.3	+	1	804	c.804G>A	c.(802-804)agG>agA	p.R268R		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CACCTTCTAGGACAAGTCTGG	0.542																																						dbGAP											0													141.0	127.0	132.0					19																	15053104		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.804G>A	19.37:g.15053104G>A			O43881|Q6IFP9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R268	ENST00000248072.3	37	c.804	CCDS12320.1	19																																																																																			OR7C2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000127529		0.542	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	57	0.00	0	G			15053104	15053104	+1	no_errors	ENST00000248072	ensembl	human	known	69_37n	silent	75	31.19	34	SNP	0.001	A
PCDHA1	56147	genome.wustl.edu	37	5	140167621	140167621	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr5:140167621G>A	ENST00000504120.2	+	1	1746	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.P582P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	582					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGATTGGTGG	0.657																																						dbGAP											0													100.0	94.0	96.0					5																	140167621		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1746G>A	5.37:g.140167621G>A			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P582	ENST00000504120.2	37	c.1746	CCDS54913.1	5																																																																																			PCDHA1	-	superfamily_Cadherin-like	ENSG00000204970		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	265	0.00	0	G	NM_018900		140167621	140167621	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	silent	110	46.60	96	SNP	0.004	A
PCDHA1	56147	genome.wustl.edu	37	5	140167621	140167621	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr5:140167621G>A	ENST00000504120.2	+	1	1746	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.P582P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	582					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGATTGGTGG	0.657																																						dbGAP											0													100.0	94.0	96.0					5																	140167621		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1746G>A	5.37:g.140167621G>A			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P582	ENST00000504120.2	37	c.1746	CCDS54913.1	5																																																																																			PCDHA1	-	superfamily_Cadherin-like	ENSG00000204970		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	177	0.00	0	G	NM_018900		140167621	140167621	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	silent	110	46.60	96	SNP	0.004	A
PCLO	27445	genome.wustl.edu	37	7	82584707	82584707	+	Silent	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr7:82584707A>G	ENST00000333891.9	-	5	5899	c.5562T>C	c.(5560-5562)tcT>tcC	p.S1854S	PCLO_ENST00000423517.2_Silent_p.S1854S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAACAAGAAGATCTATGGA	0.408																																						dbGAP											0													167.0	153.0	157.0					7																	82584707		1852	4092	5944	-	-	-	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5562T>C	7.37:g.82584707A>G				Silent	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S1854	ENST00000333891.9	37	c.5562	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	51	0.00	0	A	NM_014510		82584707	82584707	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	silent	40	40.30	27	SNP	0.474	G
PHIP	55023	genome.wustl.edu	37	6	79664655	79664655	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr6:79664655C>T	ENST00000275034.4	-	35	4096	c.3929G>A	c.(3928-3930)cGt>cAt	p.R1310H	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1310					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GGCTCTATTACGTAATCTTCT	0.328																																						dbGAP											0													79.0	79.0	79.0					6																	79664655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3929G>A	6.37:g.79664655C>T	ENSP00000275034:p.Arg1310His		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1310H	ENST00000275034.4	37	c.3929	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357633	0.82243	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.20069	2.1	5.54	5.54	0.83059	Bromodomain (2);	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.01349	-1.1378	9	.	.	.	-11.8333	13.4224	0.61005	0.1569:0.8431:0.0:0.0	.	1310;1310	A7J992;Q8WWQ0	.;PHIP_HUMAN	H	1310;36	ENSP00000275034:R1310H	.	R	-	2	0	PHIP	79721374	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.124000	0.77185	2.611000	0.88343	0.484000	0.47621	CGT	PHIP	-	superfamily_Bromodomain	ENSG00000146247		0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	50	0.00	0	C			79664655	79664655	-1	no_errors	ENST00000275034	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	T
PHIP	55023	genome.wustl.edu	37	6	79664655	79664655	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr6:79664655C>T	ENST00000275034.4	-	35	4096	c.3929G>A	c.(3928-3930)cGt>cAt	p.R1310H	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1310					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GGCTCTATTACGTAATCTTCT	0.328																																						dbGAP											0													79.0	79.0	79.0					6																	79664655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3929G>A	6.37:g.79664655C>T	ENSP00000275034:p.Arg1310His		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1310H	ENST00000275034.4	37	c.3929	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357633	0.82243	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.20069	2.1	5.54	5.54	0.83059	Bromodomain (2);	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.01349	-1.1378	9	.	.	.	-11.8333	13.4224	0.61005	0.1569:0.8431:0.0:0.0	.	1310;1310	A7J992;Q8WWQ0	.;PHIP_HUMAN	H	1310;36	ENSP00000275034:R1310H	.	R	-	2	0	PHIP	79721374	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.124000	0.77185	2.611000	0.88343	0.484000	0.47621	CGT	PHIP	-	superfamily_Bromodomain	ENSG00000146247		0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	17	0.00	0	C			79664655	79664655	-1	no_errors	ENST00000275034	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	T
PIGN	23556	genome.wustl.edu	37	18	59763153	59763153	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr18:59763153G>T	ENST00000357637.5	-	23	2523	c.2108C>A	c.(2107-2109)tCt>tAt	p.S703Y	PIGN_ENST00000400334.3_Missense_Mutation_p.S703Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	703					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GAGAACTGGAGAACTCAGTAG	0.398																																						dbGAP											0													63.0	61.0	62.0					18																	59763153		1910	4123	6033	-	-	-	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2108C>A	18.37:g.59763153G>T	ENSP00000350263:p.Ser703Tyr		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S703Y	ENST00000357637.5	37	c.2108	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083342	0.76642	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.56776	0.44;0.44	5.43	5.43	0.79202	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.368290	0.28946	N	0.013624	T	0.67924	0.2945	M	0.68952	2.095	0.45403	D	0.998382	P;P	0.51147	0.942;0.942	P;P	0.57204	0.815;0.815	T	0.69756	-0.5059	10	0.59425	D	0.04	-0.726	18.076	0.89427	0.0:0.0:1.0:0.0	.	703;703	B2RCI8;O95427	.;PIGN_HUMAN	Y	703	ENSP00000350263:S703Y;ENSP00000383188:S703Y	ENSP00000350263:S703Y	S	-	2	0	PIGN	57914133	1.000000	0.71417	0.574000	0.28523	0.860000	0.49131	7.616000	0.83018	2.548000	0.85928	0.585000	0.79938	TCT	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.398	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	37	0.00	0	G	NM_176787		59763153	59763153	-1	no_errors	ENST00000357637	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	0.965	T
PIGN	23556	genome.wustl.edu	37	18	59763153	59763153	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr18:59763153G>T	ENST00000357637.5	-	23	2523	c.2108C>A	c.(2107-2109)tCt>tAt	p.S703Y	PIGN_ENST00000400334.3_Missense_Mutation_p.S703Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	703					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GAGAACTGGAGAACTCAGTAG	0.398																																						dbGAP											0													63.0	61.0	62.0					18																	59763153		1910	4123	6033	-	-	-	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2108C>A	18.37:g.59763153G>T	ENSP00000350263:p.Ser703Tyr		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S703Y	ENST00000357637.5	37	c.2108	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083342	0.76642	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.56776	0.44;0.44	5.43	5.43	0.79202	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.368290	0.28946	N	0.013624	T	0.67924	0.2945	M	0.68952	2.095	0.45403	D	0.998382	P;P	0.51147	0.942;0.942	P;P	0.57204	0.815;0.815	T	0.69756	-0.5059	10	0.59425	D	0.04	-0.726	18.076	0.89427	0.0:0.0:1.0:0.0	.	703;703	B2RCI8;O95427	.;PIGN_HUMAN	Y	703	ENSP00000350263:S703Y;ENSP00000383188:S703Y	ENSP00000350263:S703Y	S	-	2	0	PIGN	57914133	1.000000	0.71417	0.574000	0.28523	0.860000	0.49131	7.616000	0.83018	2.548000	0.85928	0.585000	0.79938	TCT	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.398	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	14	0.00	0	G	NM_176787		59763153	59763153	-1	no_errors	ENST00000357637	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	0.965	T
PLCE1	51196	genome.wustl.edu	37	10	95892012	95892012	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr10:95892012G>C	ENST00000371380.3	+	2	1523	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	PLCE1_ENST00000260766.3_Missense_Mutation_p.E430Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.E122Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E122Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	430					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCAGCCTCCGAGACAGCCCA	0.463																																						dbGAP											0													122.0	128.0	126.0					10																	95892012		2058	4195	6253	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1288G>C	10.37:g.95892012G>C	ENSP00000360431:p.Glu430Gln		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.E430Q	ENST00000371380.3	37	c.1288	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	6.411	0.443982	0.12164	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.08	3.24	0.37175	Ras guanine nucleotide exchange factor, domain (1);	0.951683	0.08769	N	0.896603	T	0.56124	0.1964	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24768	0.111;0.056;0.111	B;B;B	0.25291	0.028;0.059;0.028	T	0.47005	-0.9150	10	0.41790	T	0.15	.	8.3424	0.32252	0.1422:0.1277:0.7301:0.0	.	430;122;430	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	430;430;122;122	ENSP00000260766:E430Q;ENSP00000360431:E430Q;ENSP00000360438:E122Q;ENSP00000360426:E122Q	ENSP00000260766:E430Q	E	+	1	0	PLCE1	95882002	0.329000	0.24696	0.838000	0.33150	0.075000	0.17131	1.518000	0.35877	0.659000	0.30945	-0.214000	0.12660	GAG	PLCE1	-	superfamily_Ras_GEF_dom	ENSG00000138193		0.463	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	38	0.00	0	G	NM_016341		95892012	95892012	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	39	44.29	31	SNP	0.025	C
PLCH1	23007	genome.wustl.edu	37	3	155282748	155282748	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr3:155282748T>C	ENST00000340059.7	-	7	988	c.989A>G	c.(988-990)gAt>gGt	p.D330G	PLCH1_ENST00000460012.1_Missense_Mutation_p.D312G|PLCH1_ENST00000414191.1_Missense_Mutation_p.D312G|PLCH1_ENST00000447496.2_Missense_Mutation_p.D330G|PLCH1_ENST00000334686.6_Missense_Mutation_p.D312G|PLCH1_ENST00000494598.1_Missense_Mutation_p.D330G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCATACATATCCACTTTGGA	0.507																																						dbGAP											0													168.0	149.0	155.0					3																	155282748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.989A>G	3.37:g.155282748T>C	ENSP00000345988:p.Asp330Gly		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D330G	ENST00000340059.7	37	c.989	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558667	0.86231	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.11	5.11	0.69529	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.052486	0.64402	D	0.000001	T	0.74824	0.3767	L	0.60067	1.865	0.80722	D	1	D;D;D	0.63046	0.99;0.992;0.966	D;D;P	0.67900	0.923;0.954;0.783	T	0.77991	-0.2379	10	0.87932	D	0	.	14.9071	0.70727	0.0:0.0:0.0:1.0	.	312;330;330	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	G	330;312;330;330;312;312	ENSP00000419100:D330G;ENSP00000417502:D312G;ENSP00000402759:D330G;ENSP00000345988:D330G;ENSP00000335469:D312G;ENSP00000412977:D312G	ENSP00000335469:D312G	D	-	2	0	PLCH1	156765442	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.930000	0.87610	1.922000	0.55676	0.533000	0.62120	GAT	PLCH1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000114805		0.507	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	138	0.72	1	T	NM_014996		155282748	155282748	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	missense	71	30.39	31	SNP	1.000	C
PLCH1	23007	genome.wustl.edu	37	3	155282748	155282748	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr3:155282748T>C	ENST00000340059.7	-	7	988	c.989A>G	c.(988-990)gAt>gGt	p.D330G	PLCH1_ENST00000460012.1_Missense_Mutation_p.D312G|PLCH1_ENST00000414191.1_Missense_Mutation_p.D312G|PLCH1_ENST00000447496.2_Missense_Mutation_p.D330G|PLCH1_ENST00000334686.6_Missense_Mutation_p.D312G|PLCH1_ENST00000494598.1_Missense_Mutation_p.D330G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCATACATATCCACTTTGGA	0.507																																						dbGAP											0													168.0	149.0	155.0					3																	155282748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.989A>G	3.37:g.155282748T>C	ENSP00000345988:p.Asp330Gly		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D330G	ENST00000340059.7	37	c.989	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558667	0.86231	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.11	5.11	0.69529	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.052486	0.64402	D	0.000001	T	0.74824	0.3767	L	0.60067	1.865	0.80722	D	1	D;D;D	0.63046	0.99;0.992;0.966	D;D;P	0.67900	0.923;0.954;0.783	T	0.77991	-0.2379	10	0.87932	D	0	.	14.9071	0.70727	0.0:0.0:0.0:1.0	.	312;330;330	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	G	330;312;330;330;312;312	ENSP00000419100:D330G;ENSP00000417502:D312G;ENSP00000402759:D330G;ENSP00000345988:D330G;ENSP00000335469:D312G;ENSP00000412977:D312G	ENSP00000335469:D312G	D	-	2	0	PLCH1	156765442	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.930000	0.87610	1.922000	0.55676	0.533000	0.62120	GAT	PLCH1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000114805		0.507	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	62	0.00	0	T	NM_014996		155282748	155282748	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	missense	71	30.39	31	SNP	1.000	C
POP4	10775	genome.wustl.edu	37	19	30097339	30097339	+	Intron	SNP	A	A	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:30097339A>C	ENST00000585603.1	+	1	2309				POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron|POP4_ENST00000591824.1_Intron			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)						mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GAGTCCTAACAGAACCGCTAC	0.607																																					Melanoma(89;1165 1449 14085 34436 43672)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.7+107A>C	19.37:g.30097339A>C			Q5XKL7|Q6FHW9|Q9UQQ3	Silent	SNP	NULL	p.R13	ENST00000585603.1	37	c.37	CCDS12416.1	19																																																																																			POP4	-	NULL	ENSG00000105171		0.607	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	22	0.00	0	A	NM_006627		30097339	30097339	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000590688	ensembl	human	putative	69_37n	silent	17	37.04	10	SNP	0.000	C
POTEF	728378	genome.wustl.edu	37	2	130832170	130832170	+	Missense_Mutation	SNP	C	C	T	rs201256864	byFrequency	TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr2:130832170C>T	ENST00000409914.2	-	17	3274	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	POTEF_ENST00000357462.5_Missense_Mutation_p.E959K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	959	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGAGCGCCTCGGGGCAGCGG	0.587																																						dbGAP											0													1.0	1.0	1.0					2																	130832170		329	944	1273	-	-	-	SO:0001583	missense	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2875G>A	2.37:g.130832170C>T	ENSP00000386786:p.Glu959Lys		A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E959K	ENST00000409914.2	37	c.2875	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	16.31	3.087767	0.55968	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.98090	-4.71;-4.71	.	.	.	.	.	.	.	.	D	0.99327	0.9764	H	0.99997	5.47	0.09310	P	1.0	D	0.71674	0.998	D	0.67548	0.952	D	0.96060	0.9038	7	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	959	A5A3E0	POTEF_HUMAN	K	959	ENSP00000350052:E959K;ENSP00000386786:E959K	ENSP00000350052:E959K	E	-	1	0	POTEF	130548640	0.995000	0.38212	0.071000	0.20095	0.072000	0.16883	3.700000	0.54786	0.119000	0.18210	0.121000	0.15741	GAG	POTEF	-	pfam_Actin-like,smart_Actin-like	ENSG00000196604		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	33	0.00	0	C	NM_001099771		130832170	130832170	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	1.000	T
POTEI	653269	genome.wustl.edu	37	2	131220735	131220735	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr2:131220735A>G	ENST00000451531.2	-	15	3312	c.2882T>C	c.(2881-2883)cTc>cCc	p.L961P		NM_001277406.1	NP_001264335.1	P0CG38	POTEI_HUMAN	POTE ankyrin domain family, member I	961	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(11)	11						AGGCTGGAAGAGCGCCTCGGG	0.582																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59431.1	2q21.1	2013-01-10			ENSG00000196834	ENSG00000196834		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37093	protein-coding gene	gene with protein product						16364570	Standard	NM_001277406		Approved	POTE2beta	uc031rpa.1	P0CG38	OTTHUMG00000153925	ENST00000451531.2:c.2882T>C	2.37:g.131220735A>G	ENSP00000392718:p.Leu961Pro			Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L961P	ENST00000451531.2	37	c.2882	CCDS59431.1	2	.	.	.	.	.	.	.	.	.	.	.	14.03	2.414446	0.42817	.	.	ENSG00000196834	ENST00000451531	T	0.20598	2.06	.	.	.	.	.	.	.	.	T	0.62478	0.2431	H	0.99940	5	0.48135	D	0.99959	.	.	.	.	.	.	T	0.59579	-0.7428	6	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	.	.	.	P	961	ENSP00000392718:L961P	ENSP00000392718:L961P	L	-	2	0	POTEI	130937205	1.000000	0.71417	0.181000	0.23098	0.183000	0.23260	6.173000	0.71937	0.103000	0.17682	0.102000	0.15555	CTC	POTEI	-	pfam_Actin-like,smart_Actin-like	ENSG00000196834		0.582	POTEI-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEI	HGNC	protein_coding	OTTHUMT00000333222.2	144	0.69	1	A	XM_928585		131220735	131220735	-1	no_errors	ENST00000451531	ensembl	human	novel	69_37n	missense	78	29.73	33	SNP	1.000	G
POTEI	653269	genome.wustl.edu	37	2	131220735	131220735	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr2:131220735A>G	ENST00000451531.2	-	15	3312	c.2882T>C	c.(2881-2883)cTc>cCc	p.L961P		NM_001277406.1	NP_001264335.1	P0CG38	POTEI_HUMAN	POTE ankyrin domain family, member I	961	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(11)	11						AGGCTGGAAGAGCGCCTCGGG	0.582																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59431.1	2q21.1	2013-01-10			ENSG00000196834	ENSG00000196834		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37093	protein-coding gene	gene with protein product						16364570	Standard	NM_001277406		Approved	POTE2beta	uc031rpa.1	P0CG38	OTTHUMG00000153925	ENST00000451531.2:c.2882T>C	2.37:g.131220735A>G	ENSP00000392718:p.Leu961Pro			Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L961P	ENST00000451531.2	37	c.2882	CCDS59431.1	2	.	.	.	.	.	.	.	.	.	.	.	14.03	2.414446	0.42817	.	.	ENSG00000196834	ENST00000451531	T	0.20598	2.06	.	.	.	.	.	.	.	.	T	0.62478	0.2431	H	0.99940	5	0.48135	D	0.99959	.	.	.	.	.	.	T	0.59579	-0.7428	6	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	.	.	.	P	961	ENSP00000392718:L961P	ENSP00000392718:L961P	L	-	2	0	POTEI	130937205	1.000000	0.71417	0.181000	0.23098	0.183000	0.23260	6.173000	0.71937	0.103000	0.17682	0.102000	0.15555	CTC	POTEI	-	pfam_Actin-like,smart_Actin-like	ENSG00000196834		0.582	POTEI-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEI	HGNC	protein_coding	OTTHUMT00000333222.2	71	0.00	0	A	XM_928585		131220735	131220735	-1	no_errors	ENST00000451531	ensembl	human	novel	69_37n	missense	78	29.73	33	SNP	1.000	G
PPP1R26	9858	genome.wustl.edu	37	9	138377841	138377841	+	Silent	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr9:138377841G>T	ENST00000356818.2	+	4	2034	c.1485G>T	c.(1483-1485)ctG>ctT	p.L495L	PPP1R26_ENST00000605660.1_Silent_p.L495L|PPP1R26_ENST00000604351.1_Silent_p.L495L|PPP1R26_ENST00000605286.1_Silent_p.L495L|PPP1R26_ENST00000401470.3_Silent_p.L495L|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	495					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGACGATCCTGCCGGCCCCTG	0.617																																						dbGAP											0													46.0	47.0	47.0					9																	138377841		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1485G>T	9.37:g.138377841G>T			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.L495	ENST00000356818.2	37	c.1485	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	97	0.00	0	G	NM_014811		138377841	138377841	+1	no_errors	ENST00000356818	ensembl	human	known	69_37n	silent	31	40.38	21	SNP	1.000	T
PPP1R26	9858	genome.wustl.edu	37	9	138377841	138377841	+	Silent	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr9:138377841G>T	ENST00000356818.2	+	4	2034	c.1485G>T	c.(1483-1485)ctG>ctT	p.L495L	PPP1R26_ENST00000605660.1_Silent_p.L495L|PPP1R26_ENST00000604351.1_Silent_p.L495L|PPP1R26_ENST00000605286.1_Silent_p.L495L|PPP1R26_ENST00000401470.3_Silent_p.L495L|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	495					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGACGATCCTGCCGGCCCCTG	0.617																																						dbGAP											0													46.0	47.0	47.0					9																	138377841		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1485G>T	9.37:g.138377841G>T			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.L495	ENST00000356818.2	37	c.1485	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	38	0.00	0	G	NM_014811		138377841	138377841	+1	no_errors	ENST00000356818	ensembl	human	known	69_37n	silent	31	40.38	21	SNP	1.000	T
PRSS35	167681	genome.wustl.edu	37	6	84234120	84234120	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr6:84234120G>T	ENST00000369700.3	+	2	1137	c.960G>T	c.(958-960)ttG>ttT	p.L320F	PRSS35_ENST00000536636.1_Missense_Mutation_p.L320F	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	320	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CTGATCAGTTGGTCTATCGGT	0.478																																						dbGAP											0													120.0	118.0	119.0					6																	84234120		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.960G>T	6.37:g.84234120G>T	ENSP00000358714:p.Leu320Phe		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.L320F	ENST00000369700.3	37	c.960	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575768	0.65878	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.91	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.077007	0.53938	D	0.000060	T	0.55862	0.1947	M	0.78637	2.42	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	T	0.62358	-0.6871	10	0.87932	D	0	-18.2527	12.0613	0.53564	0.2246:0.0:0.7754:0.0	.	320	Q8N3Z0	PRS35_HUMAN	F	320	ENSP00000440870:L320F;ENSP00000358714:L320F	ENSP00000358714:L320F	L	+	3	2	PRSS35	84290839	1.000000	0.71417	0.910000	0.35882	0.963000	0.63663	1.399000	0.34566	-0.061000	0.13110	-0.362000	0.07510	TTG	PRSS35	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000146250		0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	8	0.00	0	G	NM_153362		84234120	84234120	+1	no_errors	ENST00000369700	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	T
PTPRF	5792	genome.wustl.edu	37	1	44010810	44010810	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:44010810G>C	ENST00000359947.4	+	3	404	c.64G>C	c.(64-66)Ggt>Cgt	p.G22R	PTPRF_ENST00000372414.3_Missense_Mutation_p.G22R|PTPRF_ENST00000372413.3_Missense_Mutation_p.G22R|PTPRF_ENST00000438120.1_Missense_Mutation_p.G22R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	22					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTGATGCTTGGTTTGGTGGC	0.617																																						dbGAP											0													75.0	52.0	60.0					1																	44010810		2200	4298	6498	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.64G>C	1.37:g.44010810G>C	ENSP00000353030:p.Gly22Arg		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G22R	ENST00000359947.4	37	c.64	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185589	0.38609	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.60171	0.49;0.52;0.49;0.52;0.21	4.67	4.67	0.58626	.	0.000000	0.34986	N	0.003535	T	0.54382	0.1855	N	0.08118	0	0.80722	D	1	P;D;B;P	0.76494	0.546;0.999;0.063;0.692	B;D;B;B	0.87578	0.258;0.998;0.064;0.258	T	0.52335	-0.8589	10	0.21540	T	0.41	.	13.2807	0.60212	0.0:0.0:1.0:0.0	.	22;22;22;22	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	R	22	ENSP00000353030:G22R;ENSP00000398822:G22R;ENSP00000361491:G22R;ENSP00000361490:G22R;ENSP00000413306:G22R	ENSP00000353030:G22R	G	+	1	0	PTPRF	43783397	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.709000	0.47160	2.593000	0.87608	0.555000	0.69702	GGT	PTPRF	-	NULL	ENSG00000142949		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	82	0.00	0	G			44010810	44010810	+1	no_errors	ENST00000359947	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	1.000	C
PTPRF	5792	genome.wustl.edu	37	1	44010810	44010810	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:44010810G>C	ENST00000359947.4	+	3	404	c.64G>C	c.(64-66)Ggt>Cgt	p.G22R	PTPRF_ENST00000372414.3_Missense_Mutation_p.G22R|PTPRF_ENST00000372413.3_Missense_Mutation_p.G22R|PTPRF_ENST00000438120.1_Missense_Mutation_p.G22R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	22					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTGATGCTTGGTTTGGTGGC	0.617																																						dbGAP											0													75.0	52.0	60.0					1																	44010810		2200	4298	6498	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.64G>C	1.37:g.44010810G>C	ENSP00000353030:p.Gly22Arg		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G22R	ENST00000359947.4	37	c.64	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185589	0.38609	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.60171	0.49;0.52;0.49;0.52;0.21	4.67	4.67	0.58626	.	0.000000	0.34986	N	0.003535	T	0.54382	0.1855	N	0.08118	0	0.80722	D	1	P;D;B;P	0.76494	0.546;0.999;0.063;0.692	B;D;B;B	0.87578	0.258;0.998;0.064;0.258	T	0.52335	-0.8589	10	0.21540	T	0.41	.	13.2807	0.60212	0.0:0.0:1.0:0.0	.	22;22;22;22	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	R	22	ENSP00000353030:G22R;ENSP00000398822:G22R;ENSP00000361491:G22R;ENSP00000361490:G22R;ENSP00000413306:G22R	ENSP00000353030:G22R	G	+	1	0	PTPRF	43783397	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.709000	0.47160	2.593000	0.87608	0.555000	0.69702	GGT	PTPRF	-	NULL	ENSG00000142949		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	40	0.00	0	G			44010810	44010810	+1	no_errors	ENST00000359947	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	1.000	C
SLC5A9	200010	genome.wustl.edu	37	1	48713394	48713394	+	3'UTR	SNP	C	C	T	rs986027	byFrequency	TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:48713394C>T	ENST00000438567.2	+	0	2277				SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaacagaagcccagagagagc	0.488													C|||	3374	0.673722	0.4425	0.8343	5008	,	,		18786	0.751		0.8062	False		,,,				2504	0.6564					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.*179C>T	1.37:g.48713394C>T			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	RNA	SNP	-	NULL	ENST00000438567.2	37	NULL	CCDS30709.2	1																																																																																			SLC5A9	-	-	ENSG00000117834		0.488	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	8	0.00	0	C	XM_117174		48713394	48713394	+1	no_errors	ENST00000471020	ensembl	human	known	69_37n	rna	13	87.85	94	SNP	0.004	T
SLC5A9	200010	genome.wustl.edu	37	1	48713394	48713394	+	3'UTR	SNP	C	C	T	rs986027	byFrequency	TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:48713394C>T	ENST00000438567.2	+	0	2277				SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaacagaagcccagagagagc	0.488													C|||	3374	0.673722	0.4425	0.8343	5008	,	,		18786	0.751		0.8062	False		,,,				2504	0.6564					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.*179C>T	1.37:g.48713394C>T			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	RNA	SNP	-	NULL	ENST00000438567.2	37	NULL	CCDS30709.2	1																																																																																			SLC5A9	-	-	ENSG00000117834		0.488	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	9	0.00	0	C	XM_117174		48713394	48713394	+1	no_errors	ENST00000471020	ensembl	human	known	69_37n	rna	13	87.85	94	SNP	0.004	T
SASS6	163786	genome.wustl.edu	37	1	100550803	100550803	+	3'UTR	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:100550803G>A	ENST00000287482.5	-	0	2195				RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000535161.1_3'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)						centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTTGCTATTTGAGGATCTGGT	0.313																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.*81C>T	1.37:g.100550803G>A			D3DT55|Q8N3K0	RNA	SNP	-	NULL	ENST00000287482.5	37	NULL	CCDS764.1	1																																																																																			SASS6	-	-	ENSG00000156876		0.313	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	24	0.00	0	G	NM_194292		100550803	100550803	-1	no_errors	ENST00000462159	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.000	A
SASS6	163786	genome.wustl.edu	37	1	100550803	100550803	+	3'UTR	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:100550803G>A	ENST00000287482.5	-	0	2195				RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000535161.1_3'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)						centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTTGCTATTTGAGGATCTGGT	0.313																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.*81C>T	1.37:g.100550803G>A			D3DT55|Q8N3K0	RNA	SNP	-	NULL	ENST00000287482.5	37	NULL	CCDS764.1	1																																																																																			SASS6	-	-	ENSG00000156876		0.313	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	14	0.00	0	G	NM_194292		100550803	100550803	-1	no_errors	ENST00000462159	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.000	A
PTPRC	5788	genome.wustl.edu	37	1	198704339	198704339	+	Silent	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:198704339A>G	ENST00000367376.2	+	23	2526	c.2355A>G	c.(2353-2355)aaA>aaG	p.K785K	PTPRC_ENST00000442510.2_Silent_p.K787K|PTPRC_ENST00000594404.1_Silent_p.K624K|PTPRC_ENST00000352140.3_Silent_p.K737K|PTPRC_ENST00000348564.6_Silent_p.K626K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	785	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCAGCACAAAAGATGTCCAG	0.308																																						dbGAP											0													75.0	72.0	73.0					1																	198704339		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2355A>G	1.37:g.198704339A>G			A8K7W6|Q16614|Q9H0Y6	Silent	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K787	ENST00000367376.2	37	c.2361		1																																																																																			PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.308	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		44	0.00	0	A			198704339	198704339	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	silent	38	29.63	16	SNP	0.117	G
PTPRC	5788	genome.wustl.edu	37	1	198704339	198704339	+	Silent	SNP	A	A	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:198704339A>G	ENST00000367376.2	+	23	2526	c.2355A>G	c.(2353-2355)aaA>aaG	p.K785K	PTPRC_ENST00000442510.2_Silent_p.K787K|PTPRC_ENST00000594404.1_Silent_p.K624K|PTPRC_ENST00000352140.3_Silent_p.K737K|PTPRC_ENST00000348564.6_Silent_p.K626K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	785	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCAGCACAAAAGATGTCCAG	0.308																																						dbGAP											0													75.0	72.0	73.0					1																	198704339		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2355A>G	1.37:g.198704339A>G			A8K7W6|Q16614|Q9H0Y6	Silent	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K787	ENST00000367376.2	37	c.2361		1																																																																																			PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.308	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		27	0.00	0	A			198704339	198704339	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	silent	38	29.63	16	SNP	0.117	G
SMC1B	27127	genome.wustl.edu	37	22	45795231	45795231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr22:45795231G>T	ENST00000357450.4	-	6	856	c.857C>A	c.(856-858)tCg>tAg	p.S286*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.S286*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	286					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTTTCAACCGATCTGAAAAG	0.308																																						dbGAP											0													91.0	78.0	82.0					22																	45795231		1804	4062	5866	-	-	-	SO:0001587	stop_gained	0			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.857C>A	22.37:g.45795231G>T	ENSP00000350036:p.Ser286*		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.S286*	ENST00000357450.4	37	c.857	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869563	0.72065	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	5.7	5.7	0.88788	.	0.462717	0.20225	N	0.096609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	13.0905	0.59164	0.0731:0.0:0.9269:0.0	.	.	.	.	X	286	.	ENSP00000350036:S286X	S	-	2	0	SMC1B	44173895	1.000000	0.71417	0.999000	0.59377	0.104000	0.19210	3.825000	0.55730	2.692000	0.91855	0.655000	0.94253	TCG	SMC1B	-	pfam_RecF/RecN/SMC	ENSG00000077935		0.308	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	58	0.00	0	G	NM_148674		45795231	45795231	-1	no_errors	ENST00000357450	ensembl	human	known	69_37n	nonsense	32	13.51	5	SNP	1.000	T
SNORD3B-1	26851	genome.wustl.edu	37	17	18965277	18965277	+	lincRNA	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr17:18965277C>T	ENST00000363359.1	+	0	53				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		agaagtttctctgaacgtgta	0.502																																						dbGAP											0													5.0	3.0	4.0					17																	18965277		707	1099	1806	-	-	-			0			AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18965277C>T				RNA	SNP	-	NULL	ENST00000363359.1	37	NULL		17																																																																																			SNORD3B-1	-	-	ENSG00000200229		0.502	SNORD3B-1-201	KNOWN	basic	snoRNA	SNORD3B-1	HGNC	lincRNA		20	0.00	0	C	NR_003271		18965277	18965277	+1	no_errors	ENST00000363359	ensembl	human	known	69_37n	rna	20	16.67	4	SNP	0.124	T
SPAM1	6677	genome.wustl.edu	37	7	123594492	123594492	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr7:123594492A>T	ENST00000439500.1	+	4	1481	c.868A>T	c.(868-870)Aaa>Taa	p.K290*	SPAM1_ENST00000402183.2_Nonsense_Mutation_p.K290*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.K290*|SPAM1_ENST00000460182.1_Nonsense_Mutation_p.K290*|SPAM1_ENST00000340011.5_Nonsense_Mutation_p.K290*	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	290					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.K290E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGAGTTTCCAAAATACCTGA	0.413																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											68.0	64.0	65.0					7																	123594492		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.868A>T	7.37:g.123594492A>T	ENSP00000402123:p.Lys290*		Q8TC30	Nonsense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase	p.K290*	ENST00000439500.1	37	c.868	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	A	32	5.108307	0.94292	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	.	.	.	6.17	-10.1	0.00402	.	0.936106	0.09242	N	0.829133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.534	3.3236	0.07059	0.2376:0.3911:0.2432:0.1281	.	.	.	.	X	290	.	.	K	+	1	0	SPAM1	123381728	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.458000	0.06737	-1.413000	0.02027	-0.313000	0.08912	AAA	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000106304		0.413	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	42	0.00	0	A			123594492	123594492	+1	no_errors	ENST00000340011	ensembl	human	known	69_37n	nonsense	27	18.18	6	SNP	0.000	T
SPAM1	6677	genome.wustl.edu	37	7	123594492	123594492	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr7:123594492A>T	ENST00000439500.1	+	4	1481	c.868A>T	c.(868-870)Aaa>Taa	p.K290*	SPAM1_ENST00000402183.2_Nonsense_Mutation_p.K290*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.K290*|SPAM1_ENST00000460182.1_Nonsense_Mutation_p.K290*|SPAM1_ENST00000340011.5_Nonsense_Mutation_p.K290*	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	290					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.K290E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGAGTTTCCAAAATACCTGA	0.413																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											68.0	64.0	65.0					7																	123594492		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.868A>T	7.37:g.123594492A>T	ENSP00000402123:p.Lys290*		Q8TC30	Nonsense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase	p.K290*	ENST00000439500.1	37	c.868	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	A	32	5.108307	0.94292	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	.	.	.	6.17	-10.1	0.00402	.	0.936106	0.09242	N	0.829133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.534	3.3236	0.07059	0.2376:0.3911:0.2432:0.1281	.	.	.	.	X	290	.	.	K	+	1	0	SPAM1	123381728	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.458000	0.06737	-1.413000	0.02027	-0.313000	0.08912	AAA	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000106304		0.413	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	24	0.00	0	A			123594492	123594492	+1	no_errors	ENST00000340011	ensembl	human	known	69_37n	nonsense	27	18.18	6	SNP	0.000	T
SPOCK3	50859	genome.wustl.edu	37	4	167675842	167675842	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr4:167675842G>C	ENST00000357154.3	-	9	894	c.757C>G	c.(757-759)Ctt>Gtt	p.L253V	SPOCK3_ENST00000502330.1_Missense_Mutation_p.L253V|SPOCK3_ENST00000512681.1_Missense_Mutation_p.L155V|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Missense_Mutation_p.L155V|SPOCK3_ENST00000510741.1_Missense_Mutation_p.L210V|SPOCK3_ENST00000357545.4_Missense_Mutation_p.L250V|SPOCK3_ENST00000535728.1_Missense_Mutation_p.L121V|SPOCK3_ENST00000511269.1_Missense_Mutation_p.L250V|SPOCK3_ENST00000541354.1_Missense_Mutation_p.L133V|SPOCK3_ENST00000512648.1_Missense_Mutation_p.L250V|SPOCK3_ENST00000506886.1_Missense_Mutation_p.L253V|SPOCK3_ENST00000421836.2_Missense_Mutation_p.L202V|SPOCK3_ENST00000534949.1_Missense_Mutation_p.L157V|SPOCK3_ENST00000511531.1_Missense_Mutation_p.L253V|SPOCK3_ENST00000504953.1_Missense_Mutation_p.L250V	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	253					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATCCAGCCAAGTGAGTCCTTG	0.373																																						dbGAP											0													148.0	136.0	140.0					4																	167675842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.757C>G	4.37:g.167675842G>C	ENSP00000349677:p.Leu253Val		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.L253V	ENST00000357154.3	37	c.757	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663182	0.47572	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	1.51;1.55;1.55;1.51;1.51;1.51;1.51;1.46;0.98;1.55;1.49;1.32;0.98;1.21;2.33	5.64	5.64	0.86602	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.069770	0.64402	D	0.000019	T	0.54334	0.1852	L	0.42008	1.315	0.80722	D	1	P;P;D;D;D;P;D;D	0.76494	0.815;0.923;0.994;0.999;0.999;0.923;0.998;0.999	B;P;D;D;D;P;D;D	0.83275	0.402;0.599;0.923;0.996;0.996;0.599;0.99;0.996	T	0.38520	-0.9657	10	0.02654	T	1	-13.8063	20.0723	0.97728	0.0:0.0:1.0:0.0	.	155;157;202;262;210;253;250;253	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	V	253;250;250;253;253;253;210;133;155;250;121;202;155;157;250;132	ENSP00000349677:L253V;ENSP00000350153:L250V;ENSP00000425570:L250V;ENSP00000420920:L253V;ENSP00000423421:L253V;ENSP00000423606:L253V;ENSP00000426716:L210V;ENSP00000444789:L133V;ENSP00000426318:L155V;ENSP00000425502:L250V;ENSP00000441396:L121V;ENSP00000411344:L202V;ENSP00000445430:L155V;ENSP00000438142:L157V;ENSP00000426177:L250V	ENSP00000349677:L253V	L	-	1	0	SPOCK3	167912417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.461000	0.73522	2.819000	0.97034	0.650000	0.86243	CTT	SPOCK3	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000196104		0.373	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	42	0.00	0	G			167675842	167675842	-1	no_errors	ENST00000357154	ensembl	human	known	69_37n	missense	21	48.78	20	SNP	1.000	C
SPOCK3	50859	genome.wustl.edu	37	4	167675842	167675842	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr4:167675842G>C	ENST00000357154.3	-	9	894	c.757C>G	c.(757-759)Ctt>Gtt	p.L253V	SPOCK3_ENST00000502330.1_Missense_Mutation_p.L253V|SPOCK3_ENST00000512681.1_Missense_Mutation_p.L155V|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Missense_Mutation_p.L155V|SPOCK3_ENST00000510741.1_Missense_Mutation_p.L210V|SPOCK3_ENST00000357545.4_Missense_Mutation_p.L250V|SPOCK3_ENST00000535728.1_Missense_Mutation_p.L121V|SPOCK3_ENST00000511269.1_Missense_Mutation_p.L250V|SPOCK3_ENST00000541354.1_Missense_Mutation_p.L133V|SPOCK3_ENST00000512648.1_Missense_Mutation_p.L250V|SPOCK3_ENST00000506886.1_Missense_Mutation_p.L253V|SPOCK3_ENST00000421836.2_Missense_Mutation_p.L202V|SPOCK3_ENST00000534949.1_Missense_Mutation_p.L157V|SPOCK3_ENST00000511531.1_Missense_Mutation_p.L253V|SPOCK3_ENST00000504953.1_Missense_Mutation_p.L250V	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	253					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATCCAGCCAAGTGAGTCCTTG	0.373																																						dbGAP											0													148.0	136.0	140.0					4																	167675842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.757C>G	4.37:g.167675842G>C	ENSP00000349677:p.Leu253Val		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.L253V	ENST00000357154.3	37	c.757	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663182	0.47572	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	1.51;1.55;1.55;1.51;1.51;1.51;1.51;1.46;0.98;1.55;1.49;1.32;0.98;1.21;2.33	5.64	5.64	0.86602	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.069770	0.64402	D	0.000019	T	0.54334	0.1852	L	0.42008	1.315	0.80722	D	1	P;P;D;D;D;P;D;D	0.76494	0.815;0.923;0.994;0.999;0.999;0.923;0.998;0.999	B;P;D;D;D;P;D;D	0.83275	0.402;0.599;0.923;0.996;0.996;0.599;0.99;0.996	T	0.38520	-0.9657	10	0.02654	T	1	-13.8063	20.0723	0.97728	0.0:0.0:1.0:0.0	.	155;157;202;262;210;253;250;253	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	V	253;250;250;253;253;253;210;133;155;250;121;202;155;157;250;132	ENSP00000349677:L253V;ENSP00000350153:L250V;ENSP00000425570:L250V;ENSP00000420920:L253V;ENSP00000423421:L253V;ENSP00000423606:L253V;ENSP00000426716:L210V;ENSP00000444789:L133V;ENSP00000426318:L155V;ENSP00000425502:L250V;ENSP00000441396:L121V;ENSP00000411344:L202V;ENSP00000445430:L155V;ENSP00000438142:L157V;ENSP00000426177:L250V	ENSP00000349677:L253V	L	-	1	0	SPOCK3	167912417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.461000	0.73522	2.819000	0.97034	0.650000	0.86243	CTT	SPOCK3	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000196104		0.373	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	39	0.00	0	G			167675842	167675842	-1	no_errors	ENST00000357154	ensembl	human	known	69_37n	missense	21	48.78	20	SNP	1.000	C
TCAP	8557	genome.wustl.edu	37	17	37821696	37821696	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr17:37821696G>A	ENST00000309889.2	+	1	1257	c.84G>A	c.(82-84)ctG>ctA	p.L28L	PNMT_ENST00000394246.1_5'Flank|TCAP_ENST00000578283.1_Silent_p.L28L|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	28					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAGGATCTGACACTGTCCA	0.617																																						dbGAP											0													95.0	91.0	92.0					17																	37821696		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.84G>A	17.37:g.37821696G>A			Q96L27	Silent	SNP	pfam_Telethonin	p.L28	ENST00000309889.2	37	c.84	CCDS11342.1	17																																																																																			TCAP	-	pfam_Telethonin	ENSG00000173991		0.617	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAP	HGNC	protein_coding	OTTHUMT00000256942.1	48	0.00	0	G	NM_003673		37821696	37821696	+1	no_errors	ENST00000309889	ensembl	human	known	69_37n	silent	14	41.67	10	SNP	0.538	A
TCAP	8557	genome.wustl.edu	37	17	37821696	37821696	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr17:37821696G>A	ENST00000309889.2	+	1	1257	c.84G>A	c.(82-84)ctG>ctA	p.L28L	PNMT_ENST00000394246.1_5'Flank|TCAP_ENST00000578283.1_Silent_p.L28L|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	28					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAGGATCTGACACTGTCCA	0.617																																						dbGAP											0													95.0	91.0	92.0					17																	37821696		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.84G>A	17.37:g.37821696G>A			Q96L27	Silent	SNP	pfam_Telethonin	p.L28	ENST00000309889.2	37	c.84	CCDS11342.1	17																																																																																			TCAP	-	pfam_Telethonin	ENSG00000173991		0.617	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAP	HGNC	protein_coding	OTTHUMT00000256942.1	23	0.00	0	G	NM_003673		37821696	37821696	+1	no_errors	ENST00000309889	ensembl	human	known	69_37n	silent	14	41.67	10	SNP	0.538	A
TMEM161A	54929	genome.wustl.edu	37	19	19232452	19232452	+	Missense_Mutation	SNP	G	G	A	rs72993472		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:19232452G>A	ENST00000162044.9	-	8	746	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	TMEM161A_ENST00000450333.2_Missense_Mutation_p.R125C|TMEM161A_ENST00000587583.2_Missense_Mutation_p.R203C	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	228					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGTCCCACGCGGATAGCCAGC	0.687																																						dbGAP											0													44.0	47.0	46.0					19																	19232452		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.682C>T	19.37:g.19232452G>A	ENSP00000162044:p.Arg228Cys		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	pfam_Transmembrane_161A/B	p.R228C	ENST00000162044.9	37	c.682	CCDS12393.1	19	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.55	3.153811	0.57259	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.84	3.72	0.42706	.	0.071928	0.56097	D	0.000032	T	0.61949	0.2388	L	0.36672	1.1	0.53005	D	0.999968	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.66847	0.88;0.91;0.947	T	0.62263	-0.6891	9	0.52906	T	0.07	-4.8552	9.5428	0.39262	0.0:0.0:0.7902:0.2098	.	125;125;228	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	C	125;228	.	ENSP00000162044:R228C	R	-	1	0	TMEM161A	19093452	1.000000	0.71417	0.991000	0.47740	0.342000	0.28953	4.428000	0.59894	2.257000	0.74773	0.591000	0.81541	CGC	TMEM161A	-	pfam_Transmembrane_161A/B	ENSG00000064545		0.687	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161A	HGNC	protein_coding	OTTHUMT00000460089.2	101	0.98	1	G	NM_017814		19232452	19232452	-1	no_errors	ENST00000162044	ensembl	human	known	69_37n	missense	48	36.00	27	SNP	1.000	A
TMEM161A	54929	genome.wustl.edu	37	19	19232452	19232452	+	Missense_Mutation	SNP	G	G	A	rs72993472		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:19232452G>A	ENST00000162044.9	-	8	746	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	TMEM161A_ENST00000450333.2_Missense_Mutation_p.R125C|TMEM161A_ENST00000587583.2_Missense_Mutation_p.R203C	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	228					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGTCCCACGCGGATAGCCAGC	0.687																																						dbGAP											0													44.0	47.0	46.0					19																	19232452		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.682C>T	19.37:g.19232452G>A	ENSP00000162044:p.Arg228Cys		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	pfam_Transmembrane_161A/B	p.R228C	ENST00000162044.9	37	c.682	CCDS12393.1	19	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.55	3.153811	0.57259	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.84	3.72	0.42706	.	0.071928	0.56097	D	0.000032	T	0.61949	0.2388	L	0.36672	1.1	0.53005	D	0.999968	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.66847	0.88;0.91;0.947	T	0.62263	-0.6891	9	0.52906	T	0.07	-4.8552	9.5428	0.39262	0.0:0.0:0.7902:0.2098	.	125;125;228	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	C	125;228	.	ENSP00000162044:R228C	R	-	1	0	TMEM161A	19093452	1.000000	0.71417	0.991000	0.47740	0.342000	0.28953	4.428000	0.59894	2.257000	0.74773	0.591000	0.81541	CGC	TMEM161A	-	pfam_Transmembrane_161A/B	ENSG00000064545		0.687	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161A	HGNC	protein_coding	OTTHUMT00000460089.2	56	0.00	0	G	NM_017814		19232452	19232452	-1	no_errors	ENST00000162044	ensembl	human	known	69_37n	missense	48	36.00	27	SNP	1.000	A
TNIK	23043	genome.wustl.edu	37	3	170857303	170857306	+	Frame_Shift_Del	DEL	CTAA	CTAA	-			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	CTAA	CTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr3:170857303_170857306delCTAA	ENST00000436636.2	-	14	1716_1719	c.1372_1375delTTAG	c.(1372-1377)ttagagfs	p.LE458fs	TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000460047.1_Frame_Shift_Del_p.LE458fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.LE458fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.LE458fs|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000488470.1_Frame_Shift_Del_p.LE458fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	458	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGCAAGATCTCTAACTGTCTCTGC	0.461																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1372_1375delTTAG	3.37:g.170857303_170857306delCTAA	ENSP00000399511:p.Leu458fs		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L458fs	ENST00000436636.2	37	c.1375_1372	CCDS46956.1	3																																																																																			TNIK	-	NULL	ENSG00000154310		0.461	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	22	0.00	0	CTAA	XM_039796		170857303	170857306	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	frame_shift_del	24	33.33	12	DEL	1.000:1.000:1.000:1.000	-
TNKS1BP1	85456	genome.wustl.edu	37	11	57069368	57069368	+	Silent	SNP	T	T	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr11:57069368T>C	ENST00000532437.1	-	8	5195	c.4884A>G	c.(4882-4884)gaA>gaG	p.E1628E	TNKS1BP1_ENST00000358252.3_Silent_p.E1628E			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1628	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGCTCTGAGGTTCCTCCACTA	0.602																																						dbGAP											0													83.0	76.0	78.0					11																	57069368		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4884A>G	11.37:g.57069368T>C			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.E1628	ENST00000532437.1	37	c.4884	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.602	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	16	0.00	0	T	NM_033396		57069368	57069368	-1	no_errors	ENST00000358252	ensembl	human	known	69_37n	silent	22	29.03	9	SNP	1.000	C
TOPBP1	11073	genome.wustl.edu	37	3	133358853	133358853	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr3:133358853C>T	ENST00000260810.5	-	13	2314	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	728	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGCTCTCTTTCCCGTTCTAGC	0.358								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													96.0	88.0	91.0					3																	133358853		1849	4086	5935	-	-	-	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2183G>A	3.37:g.133358853C>T	ENSP00000260810:p.Gly728Glu		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.G728E	ENST00000260810.5	37	c.2183	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995147	0.93167	.	.	ENSG00000163781	ENST00000260810	T	0.14516	2.5	5.43	5.43	0.79202	BRCT (3);	0.050340	0.85682	D	0.000000	T	0.46151	0.1378	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48019	-0.9071	10	0.39692	T	0.17	.	19.2546	0.93941	0.0:1.0:0.0:0.0	.	728	Q92547	TOPB1_HUMAN	E	728	ENSP00000260810:G728E	ENSP00000260810:G728E	G	-	2	0	TOPBP1	134841543	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	7.818000	0.86416	2.553000	0.86117	0.650000	0.86243	GGA	TOPBP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.358	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	51	0.00	0	C	NM_007027		133358853	133358853	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	1.000	T
TOPBP1	11073	genome.wustl.edu	37	3	133358853	133358853	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr3:133358853C>T	ENST00000260810.5	-	13	2314	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	728	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGCTCTCTTTCCCGTTCTAGC	0.358								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													96.0	88.0	91.0					3																	133358853		1849	4086	5935	-	-	-	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2183G>A	3.37:g.133358853C>T	ENSP00000260810:p.Gly728Glu		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.G728E	ENST00000260810.5	37	c.2183	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995147	0.93167	.	.	ENSG00000163781	ENST00000260810	T	0.14516	2.5	5.43	5.43	0.79202	BRCT (3);	0.050340	0.85682	D	0.000000	T	0.46151	0.1378	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48019	-0.9071	10	0.39692	T	0.17	.	19.2546	0.93941	0.0:1.0:0.0:0.0	.	728	Q92547	TOPB1_HUMAN	E	728	ENSP00000260810:G728E	ENSP00000260810:G728E	G	-	2	0	TOPBP1	134841543	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	7.818000	0.86416	2.553000	0.86117	0.650000	0.86243	GGA	TOPBP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.358	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	30	0.00	0	C	NM_007027		133358853	133358853	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	46	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	18	57.14	24	SNP	0.864	T
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	24	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	18	57.14	24	SNP	0.864	T
UBR4	23352	genome.wustl.edu	37	1	19442032	19442032	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:19442032C>A	ENST00000375254.3	-	74	10950	c.10923G>T	c.(10921-10923)atG>atT	p.M3641I	UBR4_ENST00000375267.2_Missense_Mutation_p.M3641I|UBR4_ENST00000375217.2_Missense_Mutation_p.M3634I|UBR4_ENST00000375226.2_Missense_Mutation_p.M3617I|UBR4_ENST00000375218.3_Missense_Mutation_p.M56I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAAACTCAATCATCAGATTGG	0.567																																						dbGAP											0													134.0	132.0	133.0					1																	19442032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10923G>T	1.37:g.19442032C>A	ENSP00000364403:p.Met3641Ile		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.M3641I	ENST00000375254.3	37	c.10923	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557602	0.65425	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.26660	1.72;1.72;1.75;1.75	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.58969	1.84	0.80722	D	1	B;P	0.35872	0.029;0.525	B;P	0.45428	0.046;0.48	T	0.06215	-1.0839	10	0.49607	T	0.09	.	18.7215	0.91697	0.0:1.0:0.0:0.0	.	56;3641	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	I	3641;3641;3634;3617;56	ENSP00000364403:M3641I;ENSP00000364416:M3641I;ENSP00000364365:M3634I;ENSP00000364374:M3617I	ENSP00000364365:M3634I	M	-	3	0	UBR4	19314619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	2.767000	0.95098	0.655000	0.94253	ATG	UBR4	-	NULL	ENSG00000127481		0.567	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	80	0.00	0	C	NM_020765		19442032	19442032	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19442032	19442032	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:19442032C>A	ENST00000375254.3	-	74	10950	c.10923G>T	c.(10921-10923)atG>atT	p.M3641I	UBR4_ENST00000375267.2_Missense_Mutation_p.M3641I|UBR4_ENST00000375217.2_Missense_Mutation_p.M3634I|UBR4_ENST00000375226.2_Missense_Mutation_p.M3617I|UBR4_ENST00000375218.3_Missense_Mutation_p.M56I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAAACTCAATCATCAGATTGG	0.567																																						dbGAP											0													134.0	132.0	133.0					1																	19442032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10923G>T	1.37:g.19442032C>A	ENSP00000364403:p.Met3641Ile		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.M3641I	ENST00000375254.3	37	c.10923	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557602	0.65425	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.26660	1.72;1.72;1.75;1.75	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.58969	1.84	0.80722	D	1	B;P	0.35872	0.029;0.525	B;P	0.45428	0.046;0.48	T	0.06215	-1.0839	10	0.49607	T	0.09	.	18.7215	0.91697	0.0:1.0:0.0:0.0	.	56;3641	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	I	3641;3641;3634;3617;56	ENSP00000364403:M3641I;ENSP00000364416:M3641I;ENSP00000364365:M3634I;ENSP00000364374:M3617I	ENSP00000364365:M3634I	M	-	3	0	UBR4	19314619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	2.767000	0.95098	0.655000	0.94253	ATG	UBR4	-	NULL	ENSG00000127481		0.567	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	39	0.00	0	C	NM_020765		19442032	19442032	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	1.000	A
UFSP2	55325	genome.wustl.edu	37	4	186343669	186343669	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr4:186343669C>G	ENST00000264689.6	-	2	168	c.52G>C	c.(52-54)Gat>Cat	p.D18H	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	18						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		AAAGCCAAATCAAGGCCTCCT	0.313																																						dbGAP											0													41.0	43.0	42.0					4																	186343669		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.52G>C	4.37:g.186343669C>G	ENSP00000264689:p.Asp18His		Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.D18H	ENST00000264689.6	37	c.52	CCDS3842.1	4	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782052	0.70222	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.53206	1.42;0.63	5.34	5.34	0.76211	.	0.111999	0.64402	D	0.000011	T	0.51618	0.1685	L	0.54323	1.7	0.39771	D	0.972169	P	0.42123	0.771	P	0.47673	0.554	T	0.54886	-0.8226	10	0.56958	D	0.05	-15.1347	12.5385	0.56156	0.0:0.9243:0.0:0.0756	.	18	Q9NUQ7	UFSP2_HUMAN	H	18;12	ENSP00000264689:D18H;ENSP00000423108:D12H	ENSP00000264689:D18H	D	-	1	0	UFSP2	186580663	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.404000	0.52623	2.780000	0.95670	0.655000	0.94253	GAT	UFSP2	-	NULL	ENSG00000109775		0.313	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	33	0.00	0	C	NM_018359		186343669	186343669	-1	no_errors	ENST00000264689	ensembl	human	known	69_37n	missense	24	41.46	17	SNP	1.000	G
WDFY4	57705	genome.wustl.edu	37	10	50184851	50184851	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr10:50184851G>T	ENST00000325239.5	+	58	9145	c.9118G>T	c.(9118-9120)Gtc>Ttc	p.V3040F	WDFY4_ENST00000413659.2_3'UTR|WDFY4_ENST00000465910.1_3'UTR|RP11-523O18.5_ENST00000428825.4_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	3040						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GGGCACCATTGTCTCCTGTGC	0.587																																						dbGAP											0													34.0	38.0	37.0					10																	50184851		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.9118G>T	10.37:g.50184851G>T	ENSP00000320563:p.Val3040Phe		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V3040F	ENST00000325239.5	37	c.9118	CCDS44385.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.1|26.1|26.1	4.700957|4.700957|4.700957	0.88924|0.88924|0.88924	.|.|.	.|.|.	ENSG00000128815|ENSG00000128815|ENSG00000128815	ENST00000312002|ENST00000265453|ENST00000426033;ENST00000325239;ENST00000544136	.|.|T	.|.|0.32988	.|.|1.43	4.7|4.7|4.7	4.7|4.7|4.7	0.59300|0.59300|0.59300	.|.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|.|0.076627	.|.|0.52532	.|.|D	.|.|0.000065	T|T|T	0.49966|0.49966|0.49966	0.1588|0.1588|0.1588	M|M|M	0.82323|0.82323|0.82323	2.585|2.585|2.585	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P	.|.|0.51791	.|.|0.948	.|.|P	.|.|0.51385	.|.|0.668	T|T|T	0.56318|0.56318|0.56318	-0.7999|-0.7999|-0.7999	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	17.165|17.165|17.165	0.86814|0.86814|0.86814	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|3040	.|.|Q6ZS81	.|.|WDFY4_HUMAN	F|F|F	2130|1126|3040;3040;503	.|.|ENSP00000320563:V3040F	.|.|.	C|L|V	+|+|+	2|3|1	0|2|0	WDFY4|WDFY4|WDFY4	49854857|49854857|49854857	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.980000|0.980000|0.980000	0.43619|0.43619|0.43619	0.972000|0.972000|0.972000	0.66771|0.66771|0.66771	2.268000|2.268000|2.268000	0.43338|0.43338|0.43338	2.596000|2.596000|2.596000	0.87737|0.87737|0.87737	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	TGT|TTG|GTC	WDFY4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000128815		0.587	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		35	0.00	0	G	XM_033379		50184851	50184851	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	T
WWP2	11060	genome.wustl.edu	37	16	69965781	69965781	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr16:69965781G>C	ENST00000359154.2	+	16	1771	c.1670G>C	c.(1669-1671)gGg>gCg	p.G557A	WWP2_ENST00000448661.1_Missense_Mutation_p.G557A|WWP2_ENST00000356003.2_Missense_Mutation_p.G557A|WWP2_ENST00000544162.1_3'UTR|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.G118A|WWP2_ENST00000542271.1_Missense_Mutation_p.G441A	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	557	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGACTATGGGGGCATCGCC	0.622																																						dbGAP											0													78.0	80.0	80.0					16																	69965781		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1670G>C	16.37:g.69965781G>C	ENSP00000352069:p.Gly557Ala		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.G557A	ENST00000359154.2	37	c.1670	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621940	0.87460	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.27	5.27	0.74061	HECT (3);	0.045708	0.85682	D	0.000000	T	0.78991	0.4371	M	0.92691	3.335	0.80722	D	1	D	0.56746	0.977	P	0.45681	0.49	D	0.85121	0.0969	9	.	.	.	.	19.2502	0.93921	0.0:0.0:1.0:0.0	.	557	O00308	WWP2_HUMAN	A	557;118;557;557;444;441	ENSP00000352069:G557A;ENSP00000396871:G557A;ENSP00000348283:G557A;ENSP00000445616:G441A	.	G	+	2	0	WWP2	68523282	1.000000	0.71417	0.636000	0.29352	0.716000	0.41182	9.768000	0.98965	2.619000	0.88677	0.561000	0.74099	GGG	WWP2	-	superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198373		0.622	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	97	0.00	0	G	NM_007014		69965781	69965781	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	missense	27	55.74	34	SNP	1.000	C
WWP2	11060	genome.wustl.edu	37	16	69965781	69965781	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr16:69965781G>C	ENST00000359154.2	+	16	1771	c.1670G>C	c.(1669-1671)gGg>gCg	p.G557A	WWP2_ENST00000448661.1_Missense_Mutation_p.G557A|WWP2_ENST00000356003.2_Missense_Mutation_p.G557A|WWP2_ENST00000544162.1_3'UTR|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.G118A|WWP2_ENST00000542271.1_Missense_Mutation_p.G441A	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	557	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGACTATGGGGGCATCGCC	0.622																																						dbGAP											0													78.0	80.0	80.0					16																	69965781		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1670G>C	16.37:g.69965781G>C	ENSP00000352069:p.Gly557Ala		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.G557A	ENST00000359154.2	37	c.1670	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621940	0.87460	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.27	5.27	0.74061	HECT (3);	0.045708	0.85682	D	0.000000	T	0.78991	0.4371	M	0.92691	3.335	0.80722	D	1	D	0.56746	0.977	P	0.45681	0.49	D	0.85121	0.0969	9	.	.	.	.	19.2502	0.93921	0.0:0.0:1.0:0.0	.	557	O00308	WWP2_HUMAN	A	557;118;557;557;444;441	ENSP00000352069:G557A;ENSP00000396871:G557A;ENSP00000348283:G557A;ENSP00000445616:G441A	.	G	+	2	0	WWP2	68523282	1.000000	0.71417	0.636000	0.29352	0.716000	0.41182	9.768000	0.98965	2.619000	0.88677	0.561000	0.74099	GGG	WWP2	-	superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198373		0.622	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	45	0.00	0	G	NM_007014		69965781	69965781	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	missense	27	55.74	34	SNP	1.000	C
ZBTB43	23099	genome.wustl.edu	37	9	129594905	129594905	+	Silent	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr9:129594905C>G	ENST00000373464.4	+	3	381	c.117C>G	c.(115-117)gtC>gtG	p.V39V	ZBTB43_ENST00000373457.1_Silent_p.V39V|ZBTB43_ENST00000449886.1_Silent_p.V39V	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	39	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCATTGTTGTCCAAGGCCACA	0.468																																						dbGAP											0													108.0	93.0	98.0					9																	129594905		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.117C>G	9.37:g.129594905C>G			Q5JU96	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V39	ENST00000373464.4	37	c.117	CCDS6867.1	9																																																																																			ZBTB43	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000169155		0.468	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	61	0.00	0	C	NM_001135776		129594905	129594905	+1	no_errors	ENST00000373457	ensembl	human	known	69_37n	silent	12	42.86	9	SNP	1.000	G
ZBTB43	23099	genome.wustl.edu	37	9	129594905	129594905	+	Silent	SNP	C	C	G			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr9:129594905C>G	ENST00000373464.4	+	3	381	c.117C>G	c.(115-117)gtC>gtG	p.V39V	ZBTB43_ENST00000373457.1_Silent_p.V39V|ZBTB43_ENST00000449886.1_Silent_p.V39V	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	39	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCATTGTTGTCCAAGGCCACA	0.468																																						dbGAP											0													108.0	93.0	98.0					9																	129594905		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.117C>G	9.37:g.129594905C>G			Q5JU96	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V39	ENST00000373464.4	37	c.117	CCDS6867.1	9																																																																																			ZBTB43	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000169155		0.468	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	33	0.00	0	C	NM_001135776		129594905	129594905	+1	no_errors	ENST00000373457	ensembl	human	known	69_37n	silent	12	42.86	9	SNP	1.000	G
ZMIZ1	57178	genome.wustl.edu	37	10	81050733	81050733	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr10:81050733G>T	ENST00000334512.5	+	10	1130	c.558G>T	c.(556-558)atG>atT	p.M186I	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	186					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGAACCCTATGGCCAATGCCA	0.592																																						dbGAP											0													108.0	91.0	97.0					10																	81050733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.558G>T	10.37:g.81050733G>T	ENSP00000334474:p.Met186Ile		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.M186I	ENST00000334512.5	37	c.558	CCDS7357.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.495760|5.495760	0.96355|0.96355	.|.	.|.	ENSG00000108175|ENSG00000108175	ENST00000372347|ENST00000334512;ENST00000360331	.|D	.|0.96830	.|-4.14	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.50627	.|D	.|0.000116	D|D	0.97961|0.97961	0.9329|0.9329	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63046	.|0.982;0.992	.|D;P	.|0.68943	.|0.961;0.876	D|D	0.98413|0.98413	1.0573|1.0573	6|10	0.66056|0.72032	D|D	0.02|0.01	-12.5455|-12.5455	19.7667|19.7667	0.96346|0.96346	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|96;186	.|Q9H7J0;Q9ULJ6	.|.;ZMIZ1_HUMAN	C|I	118|186;116	.|ENSP00000334474:M186I	ENSP00000361422:G118C|ENSP00000334474:M186I	G|M	+|+	1|3	0|0	ZMIZ1|ZMIZ1	80720739|80720739	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GGC|ATG	ZMIZ1	-	NULL	ENSG00000108175		0.592	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	43	0.00	0	G	NM_020338		81050733	81050733	+1	no_errors	ENST00000334512	ensembl	human	known	69_37n	missense	47	35.62	26	SNP	1.000	T
ZMYM4	9202	genome.wustl.edu	37	1	35870629	35870629	+	Silent	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr1:35870629G>C	ENST00000314607.6	+	24	3614	c.3534G>C	c.(3532-3534)cgG>cgC	p.R1178R	ZMYM4_ENST00000373297.2_Silent_p.R1089R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1178					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACAGGGACGGAAGAAGTCTA	0.408																																						dbGAP											0													62.0	73.0	69.0					1																	35870629		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3534G>C	1.37:g.35870629G>C			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.E837Q	ENST00000314607.6	37	c.2509	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983186	0.18889	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.95	4.1	0.47936	.	.	.	.	.	T	0.62417	0.2426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59091	-0.7519	4	.	.	.	-3.9658	11.3077	0.49345	0.1996:0.0:0.8004:0.0	.	.	.	.	Q	837	.	.	E	+	1	0	ZMYM4	35643216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.962000	0.29280	0.861000	0.35504	0.655000	0.94253	GAA	ZMYM4	-	NULL	ENSG00000146463		0.408	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	69	0.00	0	G	NM_005095		35870629	35870629	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000457946	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	C
ZMYM4	9202	genome.wustl.edu	37	1	35870629	35870629	+	Silent	SNP	G	G	C			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr1:35870629G>C	ENST00000314607.6	+	24	3614	c.3534G>C	c.(3532-3534)cgG>cgC	p.R1178R	ZMYM4_ENST00000373297.2_Silent_p.R1089R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1178					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACAGGGACGGAAGAAGTCTA	0.408																																						dbGAP											0													62.0	73.0	69.0					1																	35870629		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3534G>C	1.37:g.35870629G>C			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.E837Q	ENST00000314607.6	37	c.2509	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983186	0.18889	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.95	4.1	0.47936	.	.	.	.	.	T	0.62417	0.2426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59091	-0.7519	4	.	.	.	-3.9658	11.3077	0.49345	0.1996:0.0:0.8004:0.0	.	.	.	.	Q	837	.	.	E	+	1	0	ZMYM4	35643216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.962000	0.29280	0.861000	0.35504	0.655000	0.94253	GAA	ZMYM4	-	NULL	ENSG00000146463		0.408	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	28	0.00	0	G	NM_005095		35870629	35870629	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000457946	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	C
ZNF25	219749	genome.wustl.edu	37	10	38241446	38241446	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr10:38241446G>A	ENST00000302609.7	-	6	1192	c.980C>T	c.(979-981)tCa>tTa	p.S327L	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGTGAGGGCTGACTTCTGGTA	0.398																																						dbGAP											0													71.0	71.0	71.0					10																	38241446		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.980C>T	10.37:g.38241446G>A	ENSP00000302222:p.Ser327Leu		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S327L	ENST00000302609.7	37	c.980	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700008	0.68501	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.07908	3.15	4.66	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35040	N	0.003488	T	0.12135	0.0295	M	0.79343	2.45	0.32087	N	0.592422	B	0.30584	0.286	B	0.21546	0.035	T	0.05971	-1.0853	10	0.72032	D	0.01	-3.95	12.7627	0.57374	0.0:0.167:0.833:0.0	.	327	P17030	ZNF25_HUMAN	L	327;291	ENSP00000302222:S327L	ENSP00000302222:S327L	S	-	2	0	ZNF25	38281452	0.698000	0.27777	1.000000	0.80357	0.989000	0.77384	2.372000	0.44257	2.587000	0.87381	0.556000	0.70494	TCA	ZNF25	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175395		0.398	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1	42	0.00	0	G	NM_145011, NM_006966		38241446	38241446	-1	no_errors	ENST00000302609	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	1.000	A
ZNF324	25799	genome.wustl.edu	37	19	58983303	58983303	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr19:58983303G>A	ENST00000536459.2	+	4	2153	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	ZNF324_ENST00000535298.1_Missense_Mutation_p.V259M|ZNF324_ENST00000196482.3_Missense_Mutation_p.V482M|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAAGCCCTTCGTGTGTACGCA	0.697																																						dbGAP											0													33.0	35.0	34.0					19																	58983303		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1444G>A	19.37:g.58983303G>A	ENSP00000444812:p.Val482Met		B3KRX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V482M	ENST00000536459.2	37	c.1444	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293723	0.23564	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.18657	2.2;2.2;2.2	3.84	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36740	N	0.002440	T	0.27933	0.0688	N	0.26162	0.8	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.02109	-1.1212	10	0.59425	D	0.04	.	8.8107	0.34965	0.0:0.0:0.5911:0.4089	.	482	O75467	Z324A_HUMAN	M	482;482;472;259	ENSP00000196482:V482M;ENSP00000444812:V482M;ENSP00000439588:V259M	ENSP00000196482:V482M	V	+	1	0	ZNF324	63675115	0.000000	0.05858	0.346000	0.25655	0.198000	0.23893	0.336000	0.19823	1.144000	0.42321	0.400000	0.26472	GTG	ZNF324	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083812		0.697	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	117	0.00	0	G	NM_014347		58983303	58983303	+1	no_errors	ENST00000196482	ensembl	human	known	69_37n	missense	52	38.10	32	SNP	0.022	A
ZNF324	25799	genome.wustl.edu	37	19	58983303	58983303	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr19:58983303G>A	ENST00000536459.2	+	4	2153	c.1444G>A	c.(1444-1446)Gtg>Atg	p.V482M	ZNF324_ENST00000535298.1_Missense_Mutation_p.V259M|ZNF324_ENST00000196482.3_Missense_Mutation_p.V482M|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAAGCCCTTCGTGTGTACGCA	0.697																																						dbGAP											0													33.0	35.0	34.0					19																	58983303		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1444G>A	19.37:g.58983303G>A	ENSP00000444812:p.Val482Met		B3KRX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V482M	ENST00000536459.2	37	c.1444	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293723	0.23564	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.18657	2.2;2.2;2.2	3.84	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36740	N	0.002440	T	0.27933	0.0688	N	0.26162	0.8	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.02109	-1.1212	10	0.59425	D	0.04	.	8.8107	0.34965	0.0:0.0:0.5911:0.4089	.	482	O75467	Z324A_HUMAN	M	482;482;472;259	ENSP00000196482:V482M;ENSP00000444812:V482M;ENSP00000439588:V259M	ENSP00000196482:V482M	V	+	1	0	ZNF324	63675115	0.000000	0.05858	0.346000	0.25655	0.198000	0.23893	0.336000	0.19823	1.144000	0.42321	0.400000	0.26472	GTG	ZNF324	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083812		0.697	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	61	0.00	0	G	NM_014347		58983303	58983303	+1	no_errors	ENST00000196482	ensembl	human	known	69_37n	missense	52	38.10	32	SNP	0.022	A
ZNF629	23361	genome.wustl.edu	37	16	30794371	30794371	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-11A-13D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	1f266cd4-ef7c-434b-902b-13842442e290	g.chr16:30794371G>A	ENST00000262525.4	-	3	1485	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCCGCTCGCCGCGGTGGA	0.637																																						dbGAP											0													52.0	58.0	56.0					16																	30794371		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1278C>T	16.37:g.30794371G>A			Q15938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G426	ENST00000262525.4	37	c.1278	CCDS45463.1	16																																																																																			ZNF629	-	pfscan_Znf_C2H2	ENSG00000102870		0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	127	0.00	0	G	NM_015309		30794371	30794371	-1	no_errors	ENST00000262525	ensembl	human	known	69_37n	silent	62	45.22	52	SNP	0.951	A
ZNF629	23361	genome.wustl.edu	37	16	30794371	30794371	+	Silent	SNP	G	G	A			TCGA-BH-A5IZ-01A-11D-A27P-09	TCGA-BH-A5IZ-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6db0ecd-0328-4bc3-b2d6-9f1a9c8e320f	24076c1c-df28-40d1-9696-221716c279cf	g.chr16:30794371G>A	ENST00000262525.4	-	3	1485	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCCGCTCGCCGCGGTGGA	0.637																																						dbGAP											0													52.0	58.0	56.0					16																	30794371		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1278C>T	16.37:g.30794371G>A			Q15938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G426	ENST00000262525.4	37	c.1278	CCDS45463.1	16																																																																																			ZNF629	-	pfscan_Znf_C2H2	ENSG00000102870		0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	59	0.00	0	G	NM_015309		30794371	30794371	-1	no_errors	ENST00000262525	ensembl	human	known	69_37n	silent	62	45.22	52	SNP	0.951	A
