#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
ARHGAP11A	9824	genome.wustl.edu	37	15	32929655	32929655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr15:32929655C>A	ENST00000361627.3	+	12	3403	c.2681C>A	c.(2680-2682)tCa>tAa	p.S894*	ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.S705*|ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.S705*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	894					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TCCTCTGTTTCATGTATCAAA	0.413																																					Colon(45;757 1134 30003 36652)	dbGAP											0													114.0	115.0	115.0					15																	32929655		2201	4300	6501	-	-	-	SO:0001587	stop_gained	0			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2681C>A	15.37:g.32929655C>A	ENSP00000355090:p.Ser894*		B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S894*	ENST00000361627.3	37	c.2681	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.291339	0.98745	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	5.14	2.21	0.28008	.	1.221440	0.05949	N	0.638438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7247	0.18006	0.139:0.6239:0.0:0.2371	.	.	.	.	X	894;705	.	ENSP00000355090:S894X	S	+	2	0	ARHGAP11A	30716947	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.370000	0.20433	0.319000	0.23209	-0.218000	0.12543	TCA	ARHGAP11A	-	NULL	ENSG00000198826		0.413	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	102	0.00	0	C	NM_014783		32929655	32929655	+1	no_errors	ENST00000361627	ensembl	human	known	69_37n	nonsense	147	28.29	58	SNP	0.000	A
ARHGAP11A	9824	genome.wustl.edu	37	15	32929655	32929655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr15:32929655C>A	ENST00000361627.3	+	12	3403	c.2681C>A	c.(2680-2682)tCa>tAa	p.S894*	ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.S705*|ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.S705*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	894					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TCCTCTGTTTCATGTATCAAA	0.413																																					Colon(45;757 1134 30003 36652)	dbGAP											0													114.0	115.0	115.0					15																	32929655		2201	4300	6501	-	-	-	SO:0001587	stop_gained	0			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2681C>A	15.37:g.32929655C>A	ENSP00000355090:p.Ser894*		B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S894*	ENST00000361627.3	37	c.2681	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.291339	0.98745	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	5.14	2.21	0.28008	.	1.221440	0.05949	N	0.638438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7247	0.18006	0.139:0.6239:0.0:0.2371	.	.	.	.	X	894;705	.	ENSP00000355090:S894X	S	+	2	0	ARHGAP11A	30716947	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.370000	0.20433	0.319000	0.23209	-0.218000	0.12543	TCA	ARHGAP11A	-	NULL	ENSG00000198826		0.413	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	246	0.00	0	C	NM_014783		32929655	32929655	+1	no_errors	ENST00000361627	ensembl	human	known	69_37n	nonsense	147	28.29	58	SNP	0.000	A
ALDH1A3	220	genome.wustl.edu	37	15	101447414	101447414	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr15:101447414C>T	ENST00000329841.5	+	11	1854	c.1322C>T	c.(1321-1323)gCa>gTa	p.A441V	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A334V	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	441					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	GGACTCACAGCAGCCGTGTTC	0.438																																						dbGAP											0													139.0	120.0	127.0					15																	101447414		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1322C>T	15.37:g.101447414C>T	ENSP00000332256:p.Ala441Val		Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A441V	ENST00000329841.5	37	c.1322	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918627	0.92249	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.81078	-1.45	4.27	4.27	0.50696	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.259707	0.37669	N	0.001994	D	0.91442	0.7299	H	0.94925	3.6	0.52099	D	0.999944	D;D	0.64830	0.994;0.963	P;P	0.60068	0.868;0.555	D	0.94338	0.7568	10	0.87932	D	0	.	17.0504	0.86517	0.0:1.0:0.0:0.0	.	345;441	Q7Z3A2;P47895	.;AL1A3_HUMAN	V	441;345	ENSP00000332256:A441V	ENSP00000332256:A441V	A	+	2	0	ALDH1A3	99264937	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.854000	0.69503	2.046000	0.60703	0.650000	0.86243	GCA	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000184254		0.438	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	113	0.00	0	C			101447414	101447414	+1	no_errors	ENST00000329841	ensembl	human	known	69_37n	missense	200	24.81	66	SNP	1.000	T
ALDH1A3	220	genome.wustl.edu	37	15	101447414	101447414	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr15:101447414C>T	ENST00000329841.5	+	11	1854	c.1322C>T	c.(1321-1323)gCa>gTa	p.A441V	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A334V	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	441					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	GGACTCACAGCAGCCGTGTTC	0.438																																						dbGAP											0													139.0	120.0	127.0					15																	101447414		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1322C>T	15.37:g.101447414C>T	ENSP00000332256:p.Ala441Val		Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A441V	ENST00000329841.5	37	c.1322	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918627	0.92249	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.81078	-1.45	4.27	4.27	0.50696	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.259707	0.37669	N	0.001994	D	0.91442	0.7299	H	0.94925	3.6	0.52099	D	0.999944	D;D	0.64830	0.994;0.963	P;P	0.60068	0.868;0.555	D	0.94338	0.7568	10	0.87932	D	0	.	17.0504	0.86517	0.0:1.0:0.0:0.0	.	345;441	Q7Z3A2;P47895	.;AL1A3_HUMAN	V	441;345	ENSP00000332256:A441V	ENSP00000332256:A441V	A	+	2	0	ALDH1A3	99264937	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.854000	0.69503	2.046000	0.60703	0.650000	0.86243	GCA	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000184254		0.438	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	251	0.00	0	C			101447414	101447414	+1	no_errors	ENST00000329841	ensembl	human	known	69_37n	missense	200	24.81	66	SNP	1.000	T
BCOR	54880	genome.wustl.edu	37	X	39922954	39922954	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chrX:39922954T>C	ENST00000378444.4	-	8	3982	c.3754A>G	c.(3754-3756)Atc>Gtc	p.I1252V	BCOR_ENST00000342274.4_Missense_Mutation_p.I1218V|BCOR_ENST00000397354.3_Missense_Mutation_p.I1218V|BCOR_ENST00000378455.4_Missense_Mutation_p.I1200V|BCOR_ENST00000378463.1_Missense_Mutation_p.I95V	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1252					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCTTCAGTGATGTTAGTCCCC	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													199.0	156.0	171.0					X																	39922954		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3754A>G	X.37:g.39922954T>C	ENSP00000367705:p.Ile1252Val		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I1252V	ENST00000378444.4	37	c.3754	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	T	4.227	0.040969	0.08196	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.68025	-0.3;1.09;1.16;1.13;1.16;1.13	5.52	-3.02	0.05446	.	.	.	.	.	T	0.39911	0.1096	N	0.14661	0.345	0.21762	N	0.999553	B;B;B	0.13145	0.004;0.007;0.004	B;B;B	0.15052	0.012;0.005;0.012	T	0.26573	-1.0099	9	0.11485	T	0.65	-6.2942	6.1259	0.20180	0.2104:0.0:0.366:0.4236	.	1200;1252;1218	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	V	122;95;1200;1218;1252;1218;1218	ENSP00000408006:I122V;ENSP00000367724:I95V;ENSP00000367716:I1200V;ENSP00000380512:I1218V;ENSP00000367705:I1252V;ENSP00000345923:I1218V	ENSP00000345923:I1218V	I	-	1	0	BCOR	39807898	0.996000	0.38824	0.529000	0.27951	0.736000	0.42039	0.403000	0.20982	-0.385000	0.07833	0.430000	0.28490	ATC	BCOR	-	NULL	ENSG00000183337		0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	247	0.00	0	T	NM_017745		39922954	39922954	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	318	27.00	118	SNP	0.915	C
BCOR	54880	genome.wustl.edu	37	X	39922954	39922954	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chrX:39922954T>C	ENST00000378444.4	-	8	3982	c.3754A>G	c.(3754-3756)Atc>Gtc	p.I1252V	BCOR_ENST00000342274.4_Missense_Mutation_p.I1218V|BCOR_ENST00000397354.3_Missense_Mutation_p.I1218V|BCOR_ENST00000378455.4_Missense_Mutation_p.I1200V|BCOR_ENST00000378463.1_Missense_Mutation_p.I95V	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1252					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCTTCAGTGATGTTAGTCCCC	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													199.0	156.0	171.0					X																	39922954		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3754A>G	X.37:g.39922954T>C	ENSP00000367705:p.Ile1252Val		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I1252V	ENST00000378444.4	37	c.3754	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	T	4.227	0.040969	0.08196	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.68025	-0.3;1.09;1.16;1.13;1.16;1.13	5.52	-3.02	0.05446	.	.	.	.	.	T	0.39911	0.1096	N	0.14661	0.345	0.21762	N	0.999553	B;B;B	0.13145	0.004;0.007;0.004	B;B;B	0.15052	0.012;0.005;0.012	T	0.26573	-1.0099	9	0.11485	T	0.65	-6.2942	6.1259	0.20180	0.2104:0.0:0.366:0.4236	.	1200;1252;1218	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	V	122;95;1200;1218;1252;1218;1218	ENSP00000408006:I122V;ENSP00000367724:I95V;ENSP00000367716:I1200V;ENSP00000380512:I1218V;ENSP00000367705:I1252V;ENSP00000345923:I1218V	ENSP00000345923:I1218V	I	-	1	0	BCOR	39807898	0.996000	0.38824	0.529000	0.27951	0.736000	0.42039	0.403000	0.20982	-0.385000	0.07833	0.430000	0.28490	ATC	BCOR	-	NULL	ENSG00000183337		0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	446	0.00	0	T	NM_017745		39922954	39922954	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	318	27.00	118	SNP	0.915	C
BSN	8927	genome.wustl.edu	37	3	49698237	49698237	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr3:49698237A>T	ENST00000296452.4	+	6	9073	c.8959A>T	c.(8959-8961)Aaa>Taa	p.K2987*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2987					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACACAACGCAAAGAGTCTTT	0.557																																						dbGAP											0													44.0	47.0	46.0					3																	49698237		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8959A>T	3.37:g.49698237A>T	ENSP00000296452:p.Lys2987*		O43161|Q7LGH3	Nonsense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.K2987*	ENST00000296452.4	37	c.8959	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	A	50	16.073767	0.99853	.	.	ENSG00000164061	ENST00000296452	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3224	14.0823	0.64932	1.0:0.0:0.0:0.0	.	.	.	.	X	2987	.	ENSP00000296452:K2987X	K	+	1	0	BSN	49673241	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	9.339000	0.96797	1.733000	0.51620	0.459000	0.35465	AAA	BSN	-	NULL	ENSG00000164061		0.557	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	13	0.00	0	A	NM_003458		49698237	49698237	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	nonsense	18	21.74	5	SNP	1.000	T
BSN	8927	genome.wustl.edu	37	3	49698237	49698237	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr3:49698237A>T	ENST00000296452.4	+	6	9073	c.8959A>T	c.(8959-8961)Aaa>Taa	p.K2987*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2987					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACACAACGCAAAGAGTCTTT	0.557																																						dbGAP											0													44.0	47.0	46.0					3																	49698237		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8959A>T	3.37:g.49698237A>T	ENSP00000296452:p.Lys2987*		O43161|Q7LGH3	Nonsense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.K2987*	ENST00000296452.4	37	c.8959	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	A	50	16.073767	0.99853	.	.	ENSG00000164061	ENST00000296452	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3224	14.0823	0.64932	1.0:0.0:0.0:0.0	.	.	.	.	X	2987	.	ENSP00000296452:K2987X	K	+	1	0	BSN	49673241	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	9.339000	0.96797	1.733000	0.51620	0.459000	0.35465	AAA	BSN	-	NULL	ENSG00000164061		0.557	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	20	0.00	0	A	NM_003458		49698237	49698237	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	nonsense	18	21.74	5	SNP	1.000	T
CCSAP	126731	genome.wustl.edu	37	1	229461134	229461134	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr1:229461134T>G	ENST00000366687.1	-	3	712	c.661A>C	c.(661-663)Aag>Cag	p.K221Q	RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000284617.2_Missense_Mutation_p.K221Q|CCSAP_ENST00000366686.1_Missense_Mutation_p.K107Q|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	221					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CTTCTGTTCTTGGCTCGTAAT	0.418																																						dbGAP											0													123.0	110.0	114.0					1																	229461134		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.661A>C	1.37:g.229461134T>G	ENSP00000355648:p.Lys221Gln		A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	NULL	p.K221Q	ENST00000366687.1	37	c.661	CCDS1577.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235713	0.79800	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.53640	0.65;0.65;0.61	5.4	4.25	0.50352	.	0.098967	0.64402	D	0.000002	T	0.62950	0.2470	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64175	-0.6469	10	0.66056	D	0.02	-11.0493	11.5455	0.50690	0.0:0.0:0.1495:0.8504	.	221	Q6IQ19	CA096_HUMAN	Q	221;221;107	ENSP00000355648:K221Q;ENSP00000284617:K221Q;ENSP00000355647:K107Q	ENSP00000284617:K221Q	K	-	1	0	C1orf96	227527757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.442000	0.59988	0.960000	0.38005	0.528000	0.53228	AAG	CCSAP	-	NULL	ENSG00000154429		0.418	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	224	0.00	0	T	NM_145257		229461134	229461134	-1	no_errors	ENST00000284617	ensembl	human	known	69_37n	missense	285	10.09	32	SNP	1.000	G
CCSAP	126731	genome.wustl.edu	37	1	229461134	229461134	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr1:229461134T>G	ENST00000366687.1	-	3	712	c.661A>C	c.(661-663)Aag>Cag	p.K221Q	RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000284617.2_Missense_Mutation_p.K221Q|CCSAP_ENST00000366686.1_Missense_Mutation_p.K107Q|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	221					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CTTCTGTTCTTGGCTCGTAAT	0.418																																						dbGAP											0													123.0	110.0	114.0					1																	229461134		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.661A>C	1.37:g.229461134T>G	ENSP00000355648:p.Lys221Gln		A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	NULL	p.K221Q	ENST00000366687.1	37	c.661	CCDS1577.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235713	0.79800	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.53640	0.65;0.65;0.61	5.4	4.25	0.50352	.	0.098967	0.64402	D	0.000002	T	0.62950	0.2470	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64175	-0.6469	10	0.66056	D	0.02	-11.0493	11.5455	0.50690	0.0:0.0:0.1495:0.8504	.	221	Q6IQ19	CA096_HUMAN	Q	221;221;107	ENSP00000355648:K221Q;ENSP00000284617:K221Q;ENSP00000355647:K107Q	ENSP00000284617:K221Q	K	-	1	0	C1orf96	227527757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.442000	0.59988	0.960000	0.38005	0.528000	0.53228	AAG	CCSAP	-	NULL	ENSG00000154429		0.418	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	379	0.00	0	T	NM_145257		229461134	229461134	-1	no_errors	ENST00000284617	ensembl	human	known	69_37n	missense	285	10.09	32	SNP	1.000	G
CXorf23	256643	genome.wustl.edu	37	X	19971988	19971988	+	Silent	SNP	G	G	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chrX:19971988G>T	ENST00000379682.4	-	5	1506	c.1473C>A	c.(1471-1473)ggC>ggA	p.G491G	CXorf23_ENST00000379687.3_Silent_p.G491G|CXorf23_ENST00000356980.3_Silent_p.G491G			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	491						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GTAAAGTAATGCCAGGTGATG	0.318																																						dbGAP											0													114.0	97.0	103.0					X																	19971988		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1473C>A	X.37:g.19971988G>T			A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.H100N	ENST00000379682.4	37	c.298		X	.	.	.	.	.	.	.	.	.	.	G	0.472	-0.884065	0.02530	.	.	ENSG00000173681	ENST00000340625	.	.	.	5.87	-6.5	0.01884	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17684	-1.0361	4	.	.	.	.	1.9173	0.03300	0.3221:0.0725:0.2943:0.3111	.	.	.	.	N	100	.	.	H	-	1	0	CXorf23	19881909	0.006000	0.16342	0.000000	0.03702	0.499000	0.33736	-0.034000	0.12225	-2.222000	0.00727	-0.905000	0.02835	CAT	CXorf23	-	NULL	ENSG00000173681		0.318	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	262	0.38	1	G	NM_198279		19971988	19971988	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000340625	ensembl	human	known	69_37n	missense	301	26.76	110	SNP	0.000	T
CXorf23	256643	genome.wustl.edu	37	X	19971988	19971988	+	Silent	SNP	G	G	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chrX:19971988G>T	ENST00000379682.4	-	5	1506	c.1473C>A	c.(1471-1473)ggC>ggA	p.G491G	CXorf23_ENST00000379687.3_Silent_p.G491G|CXorf23_ENST00000356980.3_Silent_p.G491G			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	491						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GTAAAGTAATGCCAGGTGATG	0.318																																						dbGAP											0													114.0	97.0	103.0					X																	19971988		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1473C>A	X.37:g.19971988G>T			A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.H100N	ENST00000379682.4	37	c.298		X	.	.	.	.	.	.	.	.	.	.	G	0.472	-0.884065	0.02530	.	.	ENSG00000173681	ENST00000340625	.	.	.	5.87	-6.5	0.01884	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17684	-1.0361	4	.	.	.	.	1.9173	0.03300	0.3221:0.0725:0.2943:0.3111	.	.	.	.	N	100	.	.	H	-	1	0	CXorf23	19881909	0.006000	0.16342	0.000000	0.03702	0.499000	0.33736	-0.034000	0.12225	-2.222000	0.00727	-0.905000	0.02835	CAT	CXorf23	-	NULL	ENSG00000173681		0.318	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	364	0.00	0	G	NM_198279		19971988	19971988	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000340625	ensembl	human	known	69_37n	missense	301	26.76	110	SNP	0.000	T
DDAH1	23576	genome.wustl.edu	37	1	85790543	85790543	+	Missense_Mutation	SNP	G	G	T	rs201084257	byFrequency	TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr1:85790543G>T	ENST00000284031.8	-	5	715	c.621C>A	c.(619-621)caC>caA	p.H207Q	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.H114Q|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.H104Q|DDAH1_ENST00000539042.1_Missense_Mutation_p.H207Q|DDAH1_ENST00000542148.1_Missense_Mutation_p.H107Q	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	207					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TGTCGTAGCGGTGGTCACTCA	0.468																																						dbGAP											0													112.0	107.0	108.0					1																	85790543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.621C>A	1.37:g.85790543G>T	ENSP00000284031:p.His207Gln		Q5HYC8|Q86XK5	Missense_Mutation	SNP	pfam_Amidino_trans	p.H207Q	ENST00000284031.8	37	c.621	CCDS705.1	1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484135	0.44147	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.87	1.38	0.22167	.	0.092361	0.64402	D	0.000001	T	0.39600	0.1084	L	0.61387	1.9	0.52501	D	0.999955	B;B	0.27450	0.179;0.052	B;B	0.25405	0.06;0.012	T	0.34204	-0.9838	9	0.36615	T	0.2	-16.873	11.2461	0.48998	0.3204:0.0:0.6796:0.0	.	107;207	B4DYP1;O94760	.;DDAH1_HUMAN	Q	207;207;104;114;107	.	ENSP00000284031:H207Q	H	-	3	2	DDAH1	85563131	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.004000	0.29822	0.388000	0.25054	-0.140000	0.14226	CAC	DDAH1	-	pfam_Amidino_trans	ENSG00000153904		0.468	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1	112	0.00	0	G			85790543	85790543	-1	no_errors	ENST00000284031	ensembl	human	known	69_37n	missense	191	32.75	93	SNP	0.999	T
DDAH1	23576	genome.wustl.edu	37	1	85790543	85790543	+	Missense_Mutation	SNP	G	G	T	rs201084257	byFrequency	TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr1:85790543G>T	ENST00000284031.8	-	5	715	c.621C>A	c.(619-621)caC>caA	p.H207Q	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.H114Q|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.H104Q|DDAH1_ENST00000539042.1_Missense_Mutation_p.H207Q|DDAH1_ENST00000542148.1_Missense_Mutation_p.H107Q	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	207					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TGTCGTAGCGGTGGTCACTCA	0.468																																						dbGAP											0													112.0	107.0	108.0					1																	85790543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.621C>A	1.37:g.85790543G>T	ENSP00000284031:p.His207Gln		Q5HYC8|Q86XK5	Missense_Mutation	SNP	pfam_Amidino_trans	p.H207Q	ENST00000284031.8	37	c.621	CCDS705.1	1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484135	0.44147	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.87	1.38	0.22167	.	0.092361	0.64402	D	0.000001	T	0.39600	0.1084	L	0.61387	1.9	0.52501	D	0.999955	B;B	0.27450	0.179;0.052	B;B	0.25405	0.06;0.012	T	0.34204	-0.9838	9	0.36615	T	0.2	-16.873	11.2461	0.48998	0.3204:0.0:0.6796:0.0	.	107;207	B4DYP1;O94760	.;DDAH1_HUMAN	Q	207;207;104;114;107	.	ENSP00000284031:H207Q	H	-	3	2	DDAH1	85563131	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.004000	0.29822	0.388000	0.25054	-0.140000	0.14226	CAC	DDAH1	-	pfam_Amidino_trans	ENSG00000153904		0.468	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1	258	0.00	0	G			85790543	85790543	-1	no_errors	ENST00000284031	ensembl	human	known	69_37n	missense	191	32.75	93	SNP	0.999	T
EXOC3	11336	genome.wustl.edu	37	5	447698	447698	+	Silent	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr5:447698C>T	ENST00000512944.1	+	3	384	c.195C>T	c.(193-195)ctC>ctT	p.L65L	EXOC3_ENST00000315013.5_Silent_p.L65L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	76					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCAGCCAGCTCCACAACGCCC	0.592																																						dbGAP											0													27.0	32.0	30.0					5																	447698		2187	4273	6460	-	-	-	SO:0001819	synonymous_variant	0			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.195C>T	5.37:g.447698C>T			Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	pfam_Sec6	p.L65	ENST00000512944.1	37	c.195	CCDS54830.1	5																																																																																			EXOC3	-	NULL	ENSG00000180104		0.592	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	21	0.00	0	C	NM_007277		447698	447698	+1	no_errors	ENST00000315013	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.617	T
EXOC3	11336	genome.wustl.edu	37	5	447698	447698	+	Silent	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr5:447698C>T	ENST00000512944.1	+	3	384	c.195C>T	c.(193-195)ctC>ctT	p.L65L	EXOC3_ENST00000315013.5_Silent_p.L65L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	76					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCAGCCAGCTCCACAACGCCC	0.592																																						dbGAP											0													27.0	32.0	30.0					5																	447698		2187	4273	6460	-	-	-	SO:0001819	synonymous_variant	0			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.195C>T	5.37:g.447698C>T			Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	pfam_Sec6	p.L65	ENST00000512944.1	37	c.195	CCDS54830.1	5																																																																																			EXOC3	-	NULL	ENSG00000180104		0.592	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	47	0.00	0	C	NM_007277		447698	447698	+1	no_errors	ENST00000315013	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.617	T
FAM13A	10144	genome.wustl.edu	37	4	89744132	89744132	+	Intron	SNP	C	C	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr4:89744132C>A	ENST00000264344.5	-	8	1215				FAM13A_ENST00000395002.2_Silent_p.L8L|FAM13A_ENST00000513837.1_Silent_p.L8L|FAM13A_ENST00000503556.1_Silent_p.L8L|FAM13A_ENST00000508369.1_Silent_p.L8L|FAM13A_ENST00000502459.1_Intron|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACTACCTTTGCAGAGGCATGA	0.373																																						dbGAP											0													130.0	124.0	126.0					4																	89744132		1859	4085	5944	-	-	-	SO:0001627	intron_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1008-17929G>T	4.37:g.89744132C>A			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	NULL	p.L8	ENST00000264344.5	37	c.24	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.373	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	82	0.00	0	C			89744132	89744132	-1	no_errors	ENST00000508369	ensembl	human	known	69_37n	silent	115	23.84	36	SNP	1.000	A
FAM13A	10144	genome.wustl.edu	37	4	89744132	89744132	+	Intron	SNP	C	C	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr4:89744132C>A	ENST00000264344.5	-	8	1215				FAM13A_ENST00000395002.2_Silent_p.L8L|FAM13A_ENST00000513837.1_Silent_p.L8L|FAM13A_ENST00000503556.1_Silent_p.L8L|FAM13A_ENST00000508369.1_Silent_p.L8L|FAM13A_ENST00000502459.1_Intron|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACTACCTTTGCAGAGGCATGA	0.373																																						dbGAP											0													130.0	124.0	126.0					4																	89744132		1859	4085	5944	-	-	-	SO:0001627	intron_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1008-17929G>T	4.37:g.89744132C>A			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	NULL	p.L8	ENST00000264344.5	37	c.24	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.373	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	161	0.62	1	C			89744132	89744132	-1	no_errors	ENST00000508369	ensembl	human	known	69_37n	silent	115	23.84	36	SNP	1.000	A
FAM72D	728833	genome.wustl.edu	37	1	143910091	143910091	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr1:143910091C>T	ENST00000400889.1	-	2	1064	c.217G>A	c.(217-219)Gca>Aca	p.A73T		NM_207418.2	NP_997301.2	Q6L9T8	FA72D_HUMAN	family with sequence similarity 72, member D	73										lung(1)	1						TTTAAACATGCGATGTCCTTC	0.413																																						dbGAP											0													1.0	1.0	1.0					1																	143910091		16	44	60	-	-	-	SO:0001583	missense	0			CR589924	CCDS72855.1	1q21.1	2008-10-30			ENSG00000215784	ENSG00000215784			33593	protein-coding gene	gene with protein product		614712					Standard	NM_207418		Approved		uc002qvn.1	Q6L9T8	OTTHUMG00000074801	ENST00000400889.1:c.217G>A	1.37:g.143910091C>T	ENSP00000383682:p.Ala73Thr			Missense_Mutation	SNP	NULL	p.A73T	ENST00000400889.1	37	c.217	CCDS44204.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542153	0.85917	.	.	ENSG00000215784	ENST00000400889	T	0.47528	0.84	4.41	4.41	0.53225	.	.	.	.	.	T	0.62744	0.2453	M	0.79475	2.455	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68674	-0.5346	9	0.87932	D	0	.	14.5374	0.67971	0.0:1.0:0.0:0.0	.	73;73	A2CEL3;Q6L9T8	.;FA72D_HUMAN	T	73	ENSP00000383682:A73T	ENSP00000383682:A73T	A	-	1	0	FAM72D	142621433	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.033000	0.76504	2.269000	0.75478	0.400000	0.26472	GCA	FAM72D	-	NULL	ENSG00000215784		0.413	FAM72D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM72D	HGNC	protein_coding	OTTHUMT00000158589.3	19	0.00	0	C	XM_001128582		143910091	143910091	-1	no_errors	ENST00000400889	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	T
FAM72D	728833	genome.wustl.edu	37	1	143910091	143910091	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr1:143910091C>T	ENST00000400889.1	-	2	1064	c.217G>A	c.(217-219)Gca>Aca	p.A73T		NM_207418.2	NP_997301.2	Q6L9T8	FA72D_HUMAN	family with sequence similarity 72, member D	73										lung(1)	1						TTTAAACATGCGATGTCCTTC	0.413																																						dbGAP											0													1.0	1.0	1.0					1																	143910091		16	44	60	-	-	-	SO:0001583	missense	0			CR589924	CCDS72855.1	1q21.1	2008-10-30			ENSG00000215784	ENSG00000215784			33593	protein-coding gene	gene with protein product		614712					Standard	NM_207418		Approved		uc002qvn.1	Q6L9T8	OTTHUMG00000074801	ENST00000400889.1:c.217G>A	1.37:g.143910091C>T	ENSP00000383682:p.Ala73Thr			Missense_Mutation	SNP	NULL	p.A73T	ENST00000400889.1	37	c.217	CCDS44204.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542153	0.85917	.	.	ENSG00000215784	ENST00000400889	T	0.47528	0.84	4.41	4.41	0.53225	.	.	.	.	.	T	0.62744	0.2453	M	0.79475	2.455	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68674	-0.5346	9	0.87932	D	0	.	14.5374	0.67971	0.0:1.0:0.0:0.0	.	73;73	A2CEL3;Q6L9T8	.;FA72D_HUMAN	T	73	ENSP00000383682:A73T	ENSP00000383682:A73T	A	-	1	0	FAM72D	142621433	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.033000	0.76504	2.269000	0.75478	0.400000	0.26472	GCA	FAM72D	-	NULL	ENSG00000215784		0.413	FAM72D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM72D	HGNC	protein_coding	OTTHUMT00000158589.3	76	0.00	0	C	XM_001128582		143910091	143910091	-1	no_errors	ENST00000400889	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	T
GABRG1	2565	genome.wustl.edu	37	4	46053637	46053637	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr4:46053637G>C	ENST00000295452.4	-	8	1102	c.935C>G	c.(934-936)aCt>aGt	p.T312S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	312					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGTCATAGTCAGAACTGT	0.348																																						dbGAP											0													82.0	78.0	80.0					4																	46053637		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.935C>G	4.37:g.46053637G>C	ENSP00000295452:p.Thr312Ser		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T312S	ENST00000295452.4	37	c.935	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355375	0.61293	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.84730	-1.89	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92149	0.7511	M	0.71871	2.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.92551	0.6050	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	312	Q8N1C3	GBRG1_HUMAN	S	312	ENSP00000295452:T312S	ENSP00000295452:T312S	T	-	2	0	GABRG1	45748394	1.000000	0.71417	0.946000	0.38457	0.109000	0.19521	9.869000	0.99810	2.664000	0.90586	0.655000	0.94253	ACT	GABRG1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000163285		0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	200	0.00	0	G	NM_173536		46053637	46053637	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	missense	170	19.43	41	SNP	1.000	C
GABRG1	2565	genome.wustl.edu	37	4	46053637	46053637	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr4:46053637G>C	ENST00000295452.4	-	8	1102	c.935C>G	c.(934-936)aCt>aGt	p.T312S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	312					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGTCATAGTCAGAACTGT	0.348																																						dbGAP											0													82.0	78.0	80.0					4																	46053637		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.935C>G	4.37:g.46053637G>C	ENSP00000295452:p.Thr312Ser		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T312S	ENST00000295452.4	37	c.935	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355375	0.61293	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.84730	-1.89	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92149	0.7511	M	0.71871	2.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.92551	0.6050	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	312	Q8N1C3	GBRG1_HUMAN	S	312	ENSP00000295452:T312S	ENSP00000295452:T312S	T	-	2	0	GABRG1	45748394	1.000000	0.71417	0.946000	0.38457	0.109000	0.19521	9.869000	0.99810	2.664000	0.90586	0.655000	0.94253	ACT	GABRG1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000163285		0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	247	0.00	0	G	NM_173536		46053637	46053637	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	missense	170	19.43	41	SNP	1.000	C
GPR133	283383	genome.wustl.edu	37	12	131616342	131616342	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr12:131616342G>A	ENST00000261654.5	+	21	2807	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	GPR133_ENST00000376682.4_Missense_Mutation_p.G436R|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.G269R|GPR133_ENST00000535015.1_Missense_Mutation_p.G782R	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	750					G-protein coupled receptor signaling pathway (GO:0007186)|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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAAGATCCATGGAGACCCCAG	0.547																																						dbGAP											0													191.0	140.0	157.0					12																	131616342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2248G>A	12.37:g.131616342G>A	ENSP00000261654:p.Gly750Arg		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G750R	ENST00000261654.5	37	c.2248	CCDS9272.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378073|2.378073	0.42105|0.42105	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617|ENST00000335486	T;T;T;T|.	0.40225|.	1.49;1.37;1.04;1.04|.	4.28|4.28	4.28|4.28	0.50868|0.50868	GPCR, family 2-like (1);|.	0.061427|.	0.64402|.	U|.	0.000004|.	T|T	0.57359|0.57359	0.2048|0.2048	L|L	0.49350|0.49350	1.555|1.555	0.53005|0.53005	D|D	0.999964|0.999964	B;B;B|.	0.29766|.	0.256;0.139;0.137|.	B;B;B|.	0.33339|.	0.162;0.151;0.115|.	T|T	0.55153|0.55153	-0.8185|-0.8185	10|5	0.66056|.	D|.	0.02|.	.|.	8.138|8.138	0.31067|0.31067	0.1133:0.0:0.8866:0.0|0.1133:0.0:0.8866:0.0	.|.	782;103;750|.	B7ZLF7;Q9NSM3;Q6QNK2|.	.;.;GP133_HUMAN|.	R|I	750;782;436;269|103	ENSP00000261654:G750R;ENSP00000444425:G782R;ENSP00000365872:G436R;ENSP00000438021:G269R|.	ENSP00000261654:G750R|.	G|M	+|+	1|3	0|0	GPR133|GPR133	130182295|130182295	1.000000|1.000000	0.71417|0.71417	0.620000|0.620000	0.29132|0.29132	0.973000|0.973000	0.67179|0.67179	5.231000|5.231000	0.65327|0.65327	1.895000|1.895000	0.54865|0.54865	0.491000|0.491000	0.48974|0.48974	GGA|ATG	GPR133	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000111452		0.547	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	72	0.00	0	G	NM_198827		131616342	131616342	+1	no_errors	ENST00000261654	ensembl	human	known	69_37n	missense	142	20.99	38	SNP	0.997	A
GPR133	283383	genome.wustl.edu	37	12	131616342	131616342	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr12:131616342G>A	ENST00000261654.5	+	21	2807	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	GPR133_ENST00000376682.4_Missense_Mutation_p.G436R|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.G269R|GPR133_ENST00000535015.1_Missense_Mutation_p.G782R	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	750					G-protein coupled receptor signaling pathway (GO:0007186)|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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAAGATCCATGGAGACCCCAG	0.547																																						dbGAP											0													191.0	140.0	157.0					12																	131616342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2248G>A	12.37:g.131616342G>A	ENSP00000261654:p.Gly750Arg		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G750R	ENST00000261654.5	37	c.2248	CCDS9272.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378073|2.378073	0.42105|0.42105	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617|ENST00000335486	T;T;T;T|.	0.40225|.	1.49;1.37;1.04;1.04|.	4.28|4.28	4.28|4.28	0.50868|0.50868	GPCR, family 2-like (1);|.	0.061427|.	0.64402|.	U|.	0.000004|.	T|T	0.57359|0.57359	0.2048|0.2048	L|L	0.49350|0.49350	1.555|1.555	0.53005|0.53005	D|D	0.999964|0.999964	B;B;B|.	0.29766|.	0.256;0.139;0.137|.	B;B;B|.	0.33339|.	0.162;0.151;0.115|.	T|T	0.55153|0.55153	-0.8185|-0.8185	10|5	0.66056|.	D|.	0.02|.	.|.	8.138|8.138	0.31067|0.31067	0.1133:0.0:0.8866:0.0|0.1133:0.0:0.8866:0.0	.|.	782;103;750|.	B7ZLF7;Q9NSM3;Q6QNK2|.	.;.;GP133_HUMAN|.	R|I	750;782;436;269|103	ENSP00000261654:G750R;ENSP00000444425:G782R;ENSP00000365872:G436R;ENSP00000438021:G269R|.	ENSP00000261654:G750R|.	G|M	+|+	1|3	0|0	GPR133|GPR133	130182295|130182295	1.000000|1.000000	0.71417|0.71417	0.620000|0.620000	0.29132|0.29132	0.973000|0.973000	0.67179|0.67179	5.231000|5.231000	0.65327|0.65327	1.895000|1.895000	0.54865|0.54865	0.491000|0.491000	0.48974|0.48974	GGA|ATG	GPR133	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000111452		0.547	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	174	0.00	0	G	NM_198827		131616342	131616342	+1	no_errors	ENST00000261654	ensembl	human	known	69_37n	missense	142	20.99	38	SNP	0.997	A
HLA-DRB6	3128	genome.wustl.edu	37	6	32522570	32522570	+	RNA	SNP	G	G	A	rs35923382		TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr6:32522570G>A	ENST00000411500.1	-	0	636					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGGTCTGGAAGGTCCAATCTC	0.532																																						dbGAP											0																																										-	-	-			0			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522570G>A				RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-	ENSG00000229391		0.532	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	17	0.00	0	G	NR_001298		32522570	32522570	-1	no_errors	ENST00000411500	ensembl	human	known	69_37n	rna	15	25.00	5	SNP	1.000	A
HSD17B7P2	158160	genome.wustl.edu	37	10	38652504	38652504	+	RNA	SNP	T	T	C	rs559593667	byFrequency	TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr10:38652504T>C	ENST00000494540.1	+	0	494					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		CTTCAGGAGGTGTTTGAGACC	0.438													T|||	5	0.000998403	0.0008	0.0058	5008	,	,		18705	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38652504T>C				RNA	SNP	-	NULL	ENST00000494540.1	37	NULL		10																																																																																			HSD17B7P2	-	-	ENSG00000099251		0.438	HSD17B7P2-001	KNOWN	basic	processed_transcript	HSD17B7P2	HGNC	pseudogene	OTTHUMT00000047631.2	160	0.00	0	T	NR_003086		38652504	38652504	+1	no_errors	ENST00000494540	ensembl	human	known	69_37n	rna	201	27.17	75	SNP	1.000	C
IGKV2D-30	28881	genome.wustl.edu	37	2	89976393	89976393	+	RNA	DEL	C	C	-	rs202163595		TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr2:89976393delC	ENST00000474213.1	+	0	299									immunoglobulin kappa variable 2D-30																		ACAGATTCAGCGGCAGTGGGT	0.512																																						dbGAP											0													79.0	81.0	81.0					2																	89976393		1809	4069	5878	-	-	-			0			X63402		2p11.2	2012-02-08			ENSG00000239571	ENSG00000239571		"""Immunoglobulins / IGK locus"""	5801	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151613		2.37:g.89976393delC				Frame_Shift_Del	DEL	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S88fs	ENST00000474213.1	37	c.264		2																																																																																			IGKV2D-30	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000239571		0.512	IGKV2D-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2D-30	HGNC	IG_V_gene	OTTHUMT00000323285.1	239	0.00	0	C	NG_000833		89976393	89976393	+1	no_stop_codon	ENST00000474213	ensembl	human	known	69_37n	frame_shift_del	164	23.42	52	DEL	1.000	-
IGKV2D-30	28881	genome.wustl.edu	37	2	89976393	89976393	+	RNA	DEL	C	C	-	rs202163595		TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr2:89976393delC	ENST00000474213.1	+	0	299									immunoglobulin kappa variable 2D-30																		ACAGATTCAGCGGCAGTGGGT	0.512																																						dbGAP											0													79.0	81.0	81.0					2																	89976393		1809	4069	5878	-	-	-			0			X63402		2p11.2	2012-02-08			ENSG00000239571	ENSG00000239571		"""Immunoglobulins / IGK locus"""	5801	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151613		2.37:g.89976393delC				Frame_Shift_Del	DEL	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S88fs	ENST00000474213.1	37	c.264		2																																																																																			IGKV2D-30	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000239571		0.512	IGKV2D-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2D-30	HGNC	IG_V_gene	OTTHUMT00000323285.1	56	0.00	0	C	NG_000833		89976393	89976393	+1	no_stop_codon	ENST00000474213	ensembl	human	known	69_37n	frame_shift_del	164	23.42	52	DEL	1.000	-
KCNJ6	3763	genome.wustl.edu	37	21	39087022	39087022	+	Silent	SNP	T	T	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr21:39087022T>C	ENST00000609713.1	-	3	1027	c.438A>G	c.(436-438)tcA>tcG	p.S146S	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.S146S	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	146					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTGTCTCTATTGAGAATAAAA	0.468																																					Pancreas(48;379 1118 2936 19024 28214)	dbGAP											0													84.0	88.0	87.0					21																	39087022		1834	4085	5919	-	-	-	SO:0001819	synonymous_variant	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.438A>G	21.37:g.39087022T>C			Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2	p.S146	ENST00000609713.1	37	c.438	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000157542		0.468	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	75	0.00	0	T	NM_002240		39087022	39087022	-1	no_errors	ENST00000288309	ensembl	human	known	69_37n	silent	87	26.89	32	SNP	0.659	C
KCNJ6	3763	genome.wustl.edu	37	21	39087022	39087022	+	Silent	SNP	T	T	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr21:39087022T>C	ENST00000609713.1	-	3	1027	c.438A>G	c.(436-438)tcA>tcG	p.S146S	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.S146S	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	146					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTGTCTCTATTGAGAATAAAA	0.468																																					Pancreas(48;379 1118 2936 19024 28214)	dbGAP											0													84.0	88.0	87.0					21																	39087022		1834	4085	5919	-	-	-	SO:0001819	synonymous_variant	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.438A>G	21.37:g.39087022T>C			Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2	p.S146	ENST00000609713.1	37	c.438	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000157542		0.468	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	165	0.00	0	T	NM_002240		39087022	39087022	-1	no_errors	ENST00000288309	ensembl	human	known	69_37n	silent	87	26.89	32	SNP	0.659	C
MAP2K4	6416	genome.wustl.edu	37	17	11984671	11984672	+	Splice_Site	DEL	AG	AG	-			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr17:11984671_11984672delAG	ENST00000353533.5	+	3	281		c.e3-1		MAP2K4_ENST00000581941.1_Splice_Site|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATATTTTAACAGAGAGAGACTG	0.351			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(3)	breast(7)|ovary(4)|biliary_tract(1)|pancreas(1)																																								-	-	-	SO:0001630	splice_region_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.219-1AG>-	17.37:g.11984677_11984678delAG			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	DEL	-	e4-1	ENST00000353533.5	37	c.252-2_252-1	CCDS11162.1	17																																																																																			MAP2K4	-	-	ENSG00000065559		0.351	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	132	0.00	0	AG		Intron	11984671	11984672	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	splice_site_del	65	30.11	28	DEL	1.000:1.000	-
MAP2K4	6416	genome.wustl.edu	37	17	11984671	11984672	+	Splice_Site	DEL	AG	AG	-			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr17:11984671_11984672delAG	ENST00000353533.5	+	3	281		c.e3-1		MAP2K4_ENST00000581941.1_Splice_Site|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATATTTTAACAGAGAGAGACTG	0.351			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(3)	breast(7)|ovary(4)|biliary_tract(1)|pancreas(1)																																								-	-	-	SO:0001630	splice_region_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.219-1AG>-	17.37:g.11984677_11984678delAG			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	DEL	-	e4-1	ENST00000353533.5	37	c.252-2_252-1	CCDS11162.1	17																																																																																			MAP2K4	-	-	ENSG00000065559		0.351	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	121	0.00	0	AG		Intron	11984671	11984672	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	splice_site_del	65	30.11	28	DEL	1.000:1.000	-
KIF18B	146909	genome.wustl.edu	37	17	43009058	43009058	+	Silent	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr17:43009058G>A	ENST00000593135.1	-	11	1526	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	KIF18B_ENST00000438933.2_Silent_p.L489L|KIF18B_ENST00000339151.4_Silent_p.L489L|KIF18B_ENST00000590129.1_Silent_p.L498L|KIF18B_ENST00000587309.1_Silent_p.L489L	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	498					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GACTCTGGCAGTGCATGTGTG	0.567																																						dbGAP											0													93.0	99.0	97.0					17																	43009058		2005	4176	6181	-	-	-	SO:0001819	synonymous_variant	0				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1429C>T	17.37:g.43009058G>A			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L489	ENST00000593135.1	37	c.1465	CCDS45709.2	17																																																																																			KIF18B	-	NULL	ENSG00000186185		0.567	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	102	0.00	0	G	NM_001080443		43009058	43009058	-1	no_errors	ENST00000339151	ensembl	human	known	69_37n	silent	148	29.19	61	SNP	0.000	A
KIF18B	146909	genome.wustl.edu	37	17	43009058	43009058	+	Silent	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr17:43009058G>A	ENST00000593135.1	-	11	1526	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	KIF18B_ENST00000438933.2_Silent_p.L489L|KIF18B_ENST00000339151.4_Silent_p.L489L|KIF18B_ENST00000590129.1_Silent_p.L498L|KIF18B_ENST00000587309.1_Silent_p.L489L	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	498					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GACTCTGGCAGTGCATGTGTG	0.567																																						dbGAP											0													93.0	99.0	97.0					17																	43009058		2005	4176	6181	-	-	-	SO:0001819	synonymous_variant	0				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1429C>T	17.37:g.43009058G>A			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L489	ENST00000593135.1	37	c.1465	CCDS45709.2	17																																																																																			KIF18B	-	NULL	ENSG00000186185		0.567	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	196	0.00	0	G	NM_001080443		43009058	43009058	-1	no_errors	ENST00000339151	ensembl	human	known	69_37n	silent	148	29.19	61	SNP	0.000	A
MED23	9439	genome.wustl.edu	37	6	131937129	131937129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr6:131937129delG	ENST00000368068.3	-	10	973	c.794delC	c.(793-795)ccafs	p.P265fs	MED23_ENST00000539158.1_Frame_Shift_Del_p.P265fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.P265fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.P265fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.P265fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.P265fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.P265fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.P265fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	265					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGCAGTCTGTGGTTCAAACAG	0.333																																						dbGAP											0													91.0	87.0	88.0					6																	131937129		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.794delC	6.37:g.131937129delG	ENSP00000357047:p.Pro265fs		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	pfam_Mediator_Med23	p.P265fs	ENST00000368068.3	37	c.794	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.333	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	236	0.00	0	G			131937129	131937129	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	frame_shift_del	102	38.69	65	DEL	1.000	-
MED23	9439	genome.wustl.edu	37	6	131937129	131937129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr6:131937129delG	ENST00000368068.3	-	10	973	c.794delC	c.(793-795)ccafs	p.P265fs	MED23_ENST00000539158.1_Frame_Shift_Del_p.P265fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.P265fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.P265fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.P265fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.P265fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.P265fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.P265fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	265					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGCAGTCTGTGGTTCAAACAG	0.333																																						dbGAP											0													91.0	87.0	88.0					6																	131937129		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.794delC	6.37:g.131937129delG	ENSP00000357047:p.Pro265fs		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	pfam_Mediator_Med23	p.P265fs	ENST00000368068.3	37	c.794	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.333	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	110	0.00	0	G			131937129	131937129	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	frame_shift_del	102	38.69	65	DEL	1.000	-
MUS81	80198	genome.wustl.edu	37	11	65632201	65632201	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr11:65632201G>T	ENST00000308110.4	+	12	1536	c.1187G>T	c.(1186-1188)gGc>gTc	p.G396V	MUS81_ENST00000533035.1_Missense_Mutation_p.G321V|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	396					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GTCATTGATGGCTTTTTTGTG	0.622								Homologous recombination																														dbGAP											0													79.0	75.0	76.0					11																	65632201		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1187G>T	11.37:g.65632201G>T	ENSP00000307853:p.Gly396Val		Q9H7D9	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain	p.G396V	ENST00000308110.4	37	c.1187	CCDS8115.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362304|3.362304	0.61403|0.61403	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374	T;T|.	0.27402|.	1.67;1.67|.	5.62|5.62	5.62|5.62	0.85841|0.85841	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82875|0.82875	0.5132|0.5132	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71414|.	0.973|.	D|D	0.84795|0.84795	0.0781|0.0781	10|5	0.87932|.	D|.	0|.	-26.2467|-26.2467	17.1281|17.1281	0.86719|0.86719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	396|.	Q96NY9|.	MUS81_HUMAN|.	V|C	321;396;396|321	ENSP00000432287:G321V;ENSP00000307853:G396V|.	ENSP00000307853:G396V|.	G|W	+|+	2|3	0|0	MUS81|MUS81	65388777|65388777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.651000|0.651000	0.38670|0.38670	6.850000|6.850000	0.75420|0.75420	2.649000|2.649000	0.89929|0.89929	0.561000|0.561000	0.74099|0.74099	GGC|TGG	MUS81	-	superfamily_Restrct_endonuc-II-like	ENSG00000172732		0.622	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUS81	HGNC	protein_coding	OTTHUMT00000390941.3	121	0.00	0	G	NM_025128		65632201	65632201	+1	no_errors	ENST00000308110	ensembl	human	known	69_37n	missense	68	30.61	30	SNP	1.000	T
NF1	4763	genome.wustl.edu	37	17	29588873	29588876	+	Splice_Site	DEL	TAGG	TAGG	-			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	TAGG	TAGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr17:29588873_29588876delTAGG	ENST00000358273.4	+	35	5105_5107	c.4722_4724delTAGG	c.(4720-4725)actagg>acg	p.R1575fs	NF1_ENST00000356175.3_Splice_Site_p.R1554fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1575					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTTATGACTAGGTAAAGTACAA	0.422			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)																																								-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4724+1TAGG>-	17.37:g.29588873_29588876delTAGG			O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	-	e36-1	ENST00000358273.4	37	c.4724+4_4724+1	CCDS42292.1	17																																																																																			NF1	-	-	ENSG00000196712		0.422	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	146	0.00	0	TAGG	NM_000267	Frame_Shift_Del	29588873	29588876	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	splice_site_del	82	20.39	21	DEL	0.877:1.000:1.000:1.000	-
NF1	4763	genome.wustl.edu	37	17	29588873	29588876	+	Splice_Site	DEL	TAGG	TAGG	-			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	TAGG	TAGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr17:29588873_29588876delTAGG	ENST00000358273.4	+	35	5105_5107	c.4722_4724delTAGG	c.(4720-4725)actagg>acg	p.R1575fs	NF1_ENST00000356175.3_Splice_Site_p.R1554fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1575					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTTATGACTAGGTAAAGTACAA	0.422			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)																																								-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4724+1TAGG>-	17.37:g.29588873_29588876delTAGG			O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	-	e36-1	ENST00000358273.4	37	c.4724+4_4724+1	CCDS42292.1	17																																																																																			NF1	-	-	ENSG00000196712		0.422	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	95	0.00	0	TAGG	NM_000267	Frame_Shift_Del	29588873	29588876	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	splice_site_del	82	20.39	21	DEL	0.877:1.000:1.000:1.000	-
PCDH10	57575	genome.wustl.edu	37	4	134084410	134084410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr4:134084410C>T	ENST00000264360.5	+	4	3902	c.3076C>T	c.(3076-3078)Cga>Tga	p.R1026*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1026					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1026*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTAATACGCGAGCGCCTTA	0.483																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											106.0	116.0	113.0					4																	134084410		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3076C>T	4.37:g.134084410C>T	ENSP00000264360:p.Arg1026*		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1026*	ENST00000264360.5	37	c.3076	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	48	14.712704	0.99807	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	5.24	5.24	0.73138	.	0.000000	0.31936	N	0.006821	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5742	0.61864	0.1555:0.8445:0.0:0.0	.	.	.	.	X	1026	.	ENSP00000264360:R1026X	R	+	1	2	PCDH10	134303860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.242000	0.58714	2.717000	0.92951	0.650000	0.86243	CGA	PCDH10	-	NULL	ENSG00000138650		0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	82	0.00	0	C	NM_032961		134084410	134084410	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	nonsense	31	23.81	10	SNP	1.000	T
PCDH10	57575	genome.wustl.edu	37	4	134084410	134084410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr4:134084410C>T	ENST00000264360.5	+	4	3902	c.3076C>T	c.(3076-3078)Cga>Tga	p.R1026*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1026					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1026*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTAATACGCGAGCGCCTTA	0.483																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											106.0	116.0	113.0					4																	134084410		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3076C>T	4.37:g.134084410C>T	ENSP00000264360:p.Arg1026*		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1026*	ENST00000264360.5	37	c.3076	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	48	14.712704	0.99807	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	5.24	5.24	0.73138	.	0.000000	0.31936	N	0.006821	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5742	0.61864	0.1555:0.8445:0.0:0.0	.	.	.	.	X	1026	.	ENSP00000264360:R1026X	R	+	1	2	PCDH10	134303860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.242000	0.58714	2.717000	0.92951	0.650000	0.86243	CGA	PCDH10	-	NULL	ENSG00000138650		0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	43	0.00	0	C	NM_032961		134084410	134084410	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	nonsense	31	23.81	10	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	122	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	163	23.47	50	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	208	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	163	23.47	50	SNP	1.000	G
PRB1	5542	genome.wustl.edu	37	12	11506225	11506225	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr12:11506225G>A	ENST00000500254.2	-	4	450	c.413C>T	c.(412-414)tCc>tTc	p.S138F	PRB1_ENST00000546254.1_Missense_Mutation_p.S138F|PRB1_ENST00000545626.1_Missense_Mutation_p.S118F	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCACTTTGGGACTTGCTGCC	0.597																																						dbGAP											0													195.0	232.0	220.0					12																	11506225		2155	4276	6431	-	-	-	SO:0001583	missense	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.413C>T	12.37:g.11506225G>A	ENSP00000420826:p.Ser138Phe		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	NULL	p.S138F	ENST00000500254.2	37	c.413	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	.	3.844	-0.033308	0.07543	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04862	3.54;3.54;3.54	0.662	0.662	0.17880	.	.	.	.	.	T	0.12603	0.0306	L	0.40543	1.245	0.09310	N	1	D;D;D	0.62365	0.991;0.991;0.991	P;D;D	0.63877	0.85;0.919;0.919	T	0.17471	-1.0368	9	0.59425	D	0.04	.	7.287	0.26344	1.0E-4:0.0:0.9999:0.0	.	278;118;138	Q86YA1;G3V1R1;G3V1M9	.;.;.	F	118;138;138	ENSP00000444249:S118F;ENSP00000420826:S138F;ENSP00000442127:S138F	ENSP00000420826:S138F	S	-	2	0	PRB1	11397492	.	.	0.003000	0.11579	0.019000	0.09904	.	.	0.688000	0.31529	0.134000	0.15878	TCC	PRB1	-	NULL	ENSG00000251655		0.597	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	434	0.00	0	G	NM_005039		11506225	11506225	-1	no_errors	ENST00000500254	ensembl	human	known	69_37n	missense	478	27.69	183	SNP	0.009	A
PRB1	5542	genome.wustl.edu	37	12	11506225	11506225	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr12:11506225G>A	ENST00000500254.2	-	4	450	c.413C>T	c.(412-414)tCc>tTc	p.S138F	PRB1_ENST00000546254.1_Missense_Mutation_p.S138F|PRB1_ENST00000545626.1_Missense_Mutation_p.S118F	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCACTTTGGGACTTGCTGCC	0.597																																						dbGAP											0													195.0	232.0	220.0					12																	11506225		2155	4276	6431	-	-	-	SO:0001583	missense	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.413C>T	12.37:g.11506225G>A	ENSP00000420826:p.Ser138Phe		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	NULL	p.S138F	ENST00000500254.2	37	c.413	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	.	3.844	-0.033308	0.07543	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04862	3.54;3.54;3.54	0.662	0.662	0.17880	.	.	.	.	.	T	0.12603	0.0306	L	0.40543	1.245	0.09310	N	1	D;D;D	0.62365	0.991;0.991;0.991	P;D;D	0.63877	0.85;0.919;0.919	T	0.17471	-1.0368	9	0.59425	D	0.04	.	7.287	0.26344	1.0E-4:0.0:0.9999:0.0	.	278;118;138	Q86YA1;G3V1R1;G3V1M9	.;.;.	F	118;138;138	ENSP00000444249:S118F;ENSP00000420826:S138F;ENSP00000442127:S138F	ENSP00000420826:S138F	S	-	2	0	PRB1	11397492	.	.	0.003000	0.11579	0.019000	0.09904	.	.	0.688000	0.31529	0.134000	0.15878	TCC	PRB1	-	NULL	ENSG00000251655		0.597	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	798	0.00	0	G	NM_005039		11506225	11506225	-1	no_errors	ENST00000500254	ensembl	human	known	69_37n	missense	478	27.69	183	SNP	0.009	A
RBFOX1	54715	genome.wustl.edu	37	16	7102099	7102099	+	Splice_Site	SNP	G	G	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr16:7102099G>T	ENST00000550418.1	+	4	1015	c.27G>T	c.(25-27)agG>agT	p.R9S	RBFOX1_ENST00000552089.1_Splice_Site_p.R45S|RBFOX1_ENST00000547372.1_Splice_Site_p.R52S|RBFOX1_ENST00000547427.1_3'UTR|RBFOX1_ENST00000553186.1_Splice_Site_p.R9S|RBFOX1_ENST00000422070.4_Splice_Site_p.R52S|RBFOX1_ENST00000535565.2_Splice_Site_p.R45S|RBFOX1_ENST00000547338.1_Splice_Site_p.R9S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	9					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCAGCTAAGGGTAGGTGCAC	0.403																																					Ovarian(157;934 2567 15163 39509)	dbGAP											0													85.0	84.0	84.0					16																	7102099		1844	4088	5932	-	-	-	SO:0001630	splice_region_variant	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.27+1G>T	16.37:g.7102099G>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.R52S	ENST00000550418.1	37	c.156	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005693	0.54254	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338	T;T;T;T;T;T;T	0.29655	2.07;1.56;1.87;1.89;1.93;1.98;1.56	5.46	5.46	0.80206	.	.	.	.	.	T	0.20047	0.0482	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.20671	0.022;0.045;0.001;0.0;0.047	B;B;B;B;B	0.25506	0.015;0.01;0.016;0.007;0.061	T	0.07616	-1.0763	9	0.72032	D	0.01	.	14.7999	0.69906	0.0:0.0:1.0:0.0	.	45;52;9;9;52	F5H0M1;B7Z1U7;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;RFOX1_HUMAN;.	S	9;9;9;52;52;45;45;9;9	ENSP00000450402:R9S;ENSP00000450031:R9S;ENSP00000447753:R9S;ENSP00000446842:R52S;ENSP00000391269:R52S;ENSP00000447281:R9S;ENSP00000447717:R9S	ENSP00000391269:R52S	R	+	3	2	RBFOX1	7042100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.424000	0.66464	2.549000	0.85964	0.655000	0.94253	AGG	RBFOX1	-	pirsf_RNA-bd_Fox-1	ENSG00000078328		0.403	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	209	0.00	0	G	NM_145891	Missense_Mutation	7102099	7102099	+1	no_errors	ENST00000547372	ensembl	human	known	69_37n	missense	264	20.48	68	SNP	1.000	T
RBFOX1	54715	genome.wustl.edu	37	16	7102099	7102099	+	Splice_Site	SNP	G	G	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr16:7102099G>T	ENST00000550418.1	+	4	1015	c.27G>T	c.(25-27)agG>agT	p.R9S	RBFOX1_ENST00000552089.1_Splice_Site_p.R45S|RBFOX1_ENST00000547372.1_Splice_Site_p.R52S|RBFOX1_ENST00000547427.1_3'UTR|RBFOX1_ENST00000553186.1_Splice_Site_p.R9S|RBFOX1_ENST00000422070.4_Splice_Site_p.R52S|RBFOX1_ENST00000535565.2_Splice_Site_p.R45S|RBFOX1_ENST00000547338.1_Splice_Site_p.R9S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	9					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCAGCTAAGGGTAGGTGCAC	0.403																																					Ovarian(157;934 2567 15163 39509)	dbGAP											0													85.0	84.0	84.0					16																	7102099		1844	4088	5932	-	-	-	SO:0001630	splice_region_variant	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.27+1G>T	16.37:g.7102099G>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.R52S	ENST00000550418.1	37	c.156	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005693	0.54254	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338	T;T;T;T;T;T;T	0.29655	2.07;1.56;1.87;1.89;1.93;1.98;1.56	5.46	5.46	0.80206	.	.	.	.	.	T	0.20047	0.0482	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.20671	0.022;0.045;0.001;0.0;0.047	B;B;B;B;B	0.25506	0.015;0.01;0.016;0.007;0.061	T	0.07616	-1.0763	9	0.72032	D	0.01	.	14.7999	0.69906	0.0:0.0:1.0:0.0	.	45;52;9;9;52	F5H0M1;B7Z1U7;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;RFOX1_HUMAN;.	S	9;9;9;52;52;45;45;9;9	ENSP00000450402:R9S;ENSP00000450031:R9S;ENSP00000447753:R9S;ENSP00000446842:R52S;ENSP00000391269:R52S;ENSP00000447281:R9S;ENSP00000447717:R9S	ENSP00000391269:R52S	R	+	3	2	RBFOX1	7042100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.424000	0.66464	2.549000	0.85964	0.655000	0.94253	AGG	RBFOX1	-	pirsf_RNA-bd_Fox-1	ENSG00000078328		0.403	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	261	0.00	0	G	NM_145891	Missense_Mutation	7102099	7102099	+1	no_errors	ENST00000547372	ensembl	human	known	69_37n	missense	264	20.48	68	SNP	1.000	T
RLIM	51132	genome.wustl.edu	37	X	73812045	73812045	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chrX:73812045G>A	ENST00000332687.6	-	4	1323	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	RLIM_ENST00000349225.2_Missense_Mutation_p.R369C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	369					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCTCAGAACGTGAAAATGTA	0.443																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	dbGAP											0													126.0	112.0	117.0					X																	73812045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1105C>T	X.37:g.73812045G>A	ENSP00000328059:p.Arg369Cys		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R369C	ENST00000332687.6	37	c.1105	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018769	0.35606	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.13089	2.62;2.62	5.73	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08659	-1.0711	10	0.46703	T	0.11	-1.7746	15.2203	0.73306	0.0:0.0:0.8592:0.1408	.	369	Q9NVW2	RNF12_HUMAN	C	369	ENSP00000328059:R369C;ENSP00000253571:R369C	ENSP00000328059:R369C	R	-	1	0	RLIM	73728770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.275000	0.72594	2.406000	0.81754	0.600000	0.82982	CGT	RLIM	-	NULL	ENSG00000131263		0.443	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	232	0.00	0	G	NM_016120		73812045	73812045	-1	no_errors	ENST00000332687	ensembl	human	known	69_37n	missense	252	12.20	35	SNP	1.000	A
RLIM	51132	genome.wustl.edu	37	X	73812045	73812045	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chrX:73812045G>A	ENST00000332687.6	-	4	1323	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	RLIM_ENST00000349225.2_Missense_Mutation_p.R369C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	369					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCTCAGAACGTGAAAATGTA	0.443																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	dbGAP											0													126.0	112.0	117.0					X																	73812045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1105C>T	X.37:g.73812045G>A	ENSP00000328059:p.Arg369Cys		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R369C	ENST00000332687.6	37	c.1105	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018769	0.35606	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.13089	2.62;2.62	5.73	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08659	-1.0711	10	0.46703	T	0.11	-1.7746	15.2203	0.73306	0.0:0.0:0.8592:0.1408	.	369	Q9NVW2	RNF12_HUMAN	C	369	ENSP00000328059:R369C;ENSP00000253571:R369C	ENSP00000328059:R369C	R	-	1	0	RLIM	73728770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.275000	0.72594	2.406000	0.81754	0.600000	0.82982	CGT	RLIM	-	NULL	ENSG00000131263		0.443	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	266	0.75	2	G	NM_016120		73812045	73812045	-1	no_errors	ENST00000332687	ensembl	human	known	69_37n	missense	252	12.20	35	SNP	1.000	A
RNF123	63891	genome.wustl.edu	37	3	49742580	49742580	+	Missense_Mutation	SNP	G	G	C	rs373099985	byFrequency	TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr3:49742580G>C	ENST00000327697.6	+	23	2267	c.2123G>C	c.(2122-2124)cGc>cCc	p.R708P	RNF123_ENST00000432042.1_Missense_Mutation_p.R562P	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	708					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGAAGGTCCGCACGCTGAGC	0.637																																						dbGAP											0													31.0	39.0	36.0					3																	49742580		2194	4299	6493	-	-	-	SO:0001583	missense	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2123G>C	3.37:g.49742580G>C	ENSP00000328287:p.Arg708Pro		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.R708P	ENST00000327697.6	37	c.2123	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	g	22.6	4.308564	0.81247	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77750	-0.84;-1.12	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000003	T	0.75824	0.3902	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.55112	0.769;0.769	T	0.78362	-0.2233	10	0.54805	T	0.06	-22.1689	14.0951	0.65016	0.0:0.0:0.8493:0.1507	.	562;708	C9J266;Q5XPI4	.;RN123_HUMAN	P	708;708;562	ENSP00000328287:R708P;ENSP00000392443:R562P	ENSP00000328287:R708P	R	+	2	0	RNF123	49717584	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.571000	0.67404	2.364000	0.80123	0.556000	0.70494	CGC	RNF123	-	NULL	ENSG00000164068		0.637	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	24	0.00	0	G	NM_022064		49742580	49742580	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	C
RNF123	63891	genome.wustl.edu	37	3	49742580	49742580	+	Missense_Mutation	SNP	G	G	C	rs373099985	byFrequency	TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr3:49742580G>C	ENST00000327697.6	+	23	2267	c.2123G>C	c.(2122-2124)cGc>cCc	p.R708P	RNF123_ENST00000432042.1_Missense_Mutation_p.R562P	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	708					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGAAGGTCCGCACGCTGAGC	0.637																																						dbGAP											0													31.0	39.0	36.0					3																	49742580		2194	4299	6493	-	-	-	SO:0001583	missense	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2123G>C	3.37:g.49742580G>C	ENSP00000328287:p.Arg708Pro		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.R708P	ENST00000327697.6	37	c.2123	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	g	22.6	4.308564	0.81247	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77750	-0.84;-1.12	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000003	T	0.75824	0.3902	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.55112	0.769;0.769	T	0.78362	-0.2233	10	0.54805	T	0.06	-22.1689	14.0951	0.65016	0.0:0.0:0.8493:0.1507	.	562;708	C9J266;Q5XPI4	.;RN123_HUMAN	P	708;708;562	ENSP00000328287:R708P;ENSP00000392443:R562P	ENSP00000328287:R708P	R	+	2	0	RNF123	49717584	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.571000	0.67404	2.364000	0.80123	0.556000	0.70494	CGC	RNF123	-	NULL	ENSG00000164068		0.637	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	49	0.00	0	G	NM_022064		49742580	49742580	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	C
SCARA5	286133	genome.wustl.edu	37	8	27845103	27845103	+	Silent	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr8:27845103G>A	ENST00000354914.3	-	2	515	c.30C>T	c.(28-30)acC>acT	p.T10T	SCARA5_ENST00000524352.1_Silent_p.T10T|SCARA5_ENST00000518030.1_Silent_p.T10T|SCARA5_ENST00000380385.2_Silent_p.T10T|SCARA5_ENST00000301906.4_Silent_p.T10T	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	10					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGTCGCTGACGGTGTGTAGGT	0.562																																						dbGAP											0													145.0	119.0	128.0					8																	27845103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.30C>T	8.37:g.27845103G>A			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.T10	ENST00000354914.3	37	c.30	CCDS6064.1	8																																																																																			SCARA5	-	NULL	ENSG00000168079		0.562	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	82	0.00	0	G	NM_173833		27845103	27845103	-1	no_errors	ENST00000354914	ensembl	human	known	69_37n	silent	93	19.13	22	SNP	0.997	A
SCARA5	286133	genome.wustl.edu	37	8	27845103	27845103	+	Silent	SNP	G	G	A			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr8:27845103G>A	ENST00000354914.3	-	2	515	c.30C>T	c.(28-30)acC>acT	p.T10T	SCARA5_ENST00000524352.1_Silent_p.T10T|SCARA5_ENST00000518030.1_Silent_p.T10T|SCARA5_ENST00000380385.2_Silent_p.T10T|SCARA5_ENST00000301906.4_Silent_p.T10T	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	10					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGTCGCTGACGGTGTGTAGGT	0.562																																						dbGAP											0													145.0	119.0	128.0					8																	27845103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.30C>T	8.37:g.27845103G>A			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.T10	ENST00000354914.3	37	c.30	CCDS6064.1	8																																																																																			SCARA5	-	NULL	ENSG00000168079		0.562	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	129	0.00	0	G	NM_173833		27845103	27845103	-1	no_errors	ENST00000354914	ensembl	human	known	69_37n	silent	93	19.13	22	SNP	0.997	A
SH3TC1	54436	genome.wustl.edu	37	4	8228801	8228801	+	Silent	SNP	C	C	G			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr4:8228801C>G	ENST00000245105.3	+	12	1447	c.1380C>G	c.(1378-1380)ccC>ccG	p.P460P	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Silent_p.P384P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	460										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGGCTGCCCCCAGGAGCCAG	0.607																																					NSCLC(145;2298 2623 35616 37297)	dbGAP											0													36.0	40.0	39.0					4																	8228801		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1380C>G	4.37:g.8228801C>G			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.P460	ENST00000245105.3	37	c.1380	CCDS3399.1	4																																																																																			SH3TC1	-	NULL	ENSG00000125089		0.607	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	20	0.00	0	C	NM_018986		8228801	8228801	+1	no_errors	ENST00000245105	ensembl	human	known	69_37n	silent	27	40.00	18	SNP	0.000	G
SH3TC1	54436	genome.wustl.edu	37	4	8228801	8228801	+	Silent	SNP	C	C	G			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr4:8228801C>G	ENST00000245105.3	+	12	1447	c.1380C>G	c.(1378-1380)ccC>ccG	p.P460P	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Silent_p.P384P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	460										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGGCTGCCCCCAGGAGCCAG	0.607																																					NSCLC(145;2298 2623 35616 37297)	dbGAP											0													36.0	40.0	39.0					4																	8228801		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1380C>G	4.37:g.8228801C>G			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.P460	ENST00000245105.3	37	c.1380	CCDS3399.1	4																																																																																			SH3TC1	-	NULL	ENSG00000125089		0.607	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	37	0.00	0	C	NM_018986		8228801	8228801	+1	no_errors	ENST00000245105	ensembl	human	known	69_37n	silent	27	40.00	18	SNP	0.000	G
SMAD9	4093	genome.wustl.edu	37	13	37446983	37446983	+	Missense_Mutation	SNP	C	C	T	rs200651392		TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr13:37446983C>T	ENST00000399275.2	-	2	621	c.482G>A	c.(481-483)cGc>cAc	p.R161H	SMAD9_ENST00000350148.5_Missense_Mutation_p.R161H|SMAD9_ENST00000379826.4_Missense_Mutation_p.R161H			O15198	SMAD9_HUMAN	SMAD family member 9	161					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGAGGCGCTGCGGAACTTGGC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19155	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													131.0	113.0	119.0					13																	37446983		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.482G>A	13.37:g.37446983C>T	ENSP00000382216:p.Arg161His		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R161H	ENST00000399275.2	37	c.482	CCDS45032.1	13	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.78	3.696639	0.68386	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94280	-3.39;-3.36;-3.39	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91026	0.7177	L	0.46614	1.455	0.80722	D	1	B;B	0.13594	0.002;0.008	B;B	0.15870	0.005;0.014	D	0.86602	0.1867	10	0.33141	T	0.24	.	18.4945	0.90860	0.0:1.0:0.0:0.0	.	161;161	O15198-2;O15198	.;SMAD9_HUMAN	H	161	ENSP00000382216:R161H;ENSP00000239885:R161H;ENSP00000369154:R161H	ENSP00000239885:R161H	R	-	2	0	SMAD9	36344983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	2.670000	0.90874	0.563000	0.77884	CGC	SMAD9	-	NULL	ENSG00000120693		0.577	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	310	0.00	0	C	NM_005905		37446983	37446983	-1	no_errors	ENST00000379826	ensembl	human	known	69_37n	missense	254	25.36	87	SNP	1.000	T
SMAD9	4093	genome.wustl.edu	37	13	37446983	37446983	+	Missense_Mutation	SNP	C	C	T	rs200651392		TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr13:37446983C>T	ENST00000399275.2	-	2	621	c.482G>A	c.(481-483)cGc>cAc	p.R161H	SMAD9_ENST00000350148.5_Missense_Mutation_p.R161H|SMAD9_ENST00000379826.4_Missense_Mutation_p.R161H			O15198	SMAD9_HUMAN	SMAD family member 9	161					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGAGGCGCTGCGGAACTTGGC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19155	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													131.0	113.0	119.0					13																	37446983		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.482G>A	13.37:g.37446983C>T	ENSP00000382216:p.Arg161His		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R161H	ENST00000399275.2	37	c.482	CCDS45032.1	13	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.78	3.696639	0.68386	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94280	-3.39;-3.36;-3.39	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91026	0.7177	L	0.46614	1.455	0.80722	D	1	B;B	0.13594	0.002;0.008	B;B	0.15870	0.005;0.014	D	0.86602	0.1867	10	0.33141	T	0.24	.	18.4945	0.90860	0.0:1.0:0.0:0.0	.	161;161	O15198-2;O15198	.;SMAD9_HUMAN	H	161	ENSP00000382216:R161H;ENSP00000239885:R161H;ENSP00000369154:R161H	ENSP00000239885:R161H	R	-	2	0	SMAD9	36344983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	2.670000	0.90874	0.563000	0.77884	CGC	SMAD9	-	NULL	ENSG00000120693		0.577	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	362	0.28	1	C	NM_005905		37446983	37446983	-1	no_errors	ENST00000379826	ensembl	human	known	69_37n	missense	254	25.36	87	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66475053	66475053	+	Silent	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr11:66475053G>C	ENST00000533211.1	-	13	1918	c.1587C>G	c.(1585-1587)ctC>ctG	p.L529L	SPTBN2_ENST00000309996.2_Silent_p.L529L|SPTBN2_ENST00000529997.1_Silent_p.L529L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	529					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCTCCAGGTTGAGGAGGAGCC	0.627																																						dbGAP											0													26.0	27.0	27.0					11																	66475053		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1587C>G	11.37:g.66475053G>C			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.L529	ENST00000533211.1	37	c.1587	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu	ENSG00000173898		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	17	0.00	0	G	NM_006946		66475053	66475053	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.873	C
SPTBN2	6712	genome.wustl.edu	37	11	66475053	66475053	+	Silent	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr11:66475053G>C	ENST00000533211.1	-	13	1918	c.1587C>G	c.(1585-1587)ctC>ctG	p.L529L	SPTBN2_ENST00000309996.2_Silent_p.L529L|SPTBN2_ENST00000529997.1_Silent_p.L529L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	529					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCTCCAGGTTGAGGAGGAGCC	0.627																																						dbGAP											0													26.0	27.0	27.0					11																	66475053		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1587C>G	11.37:g.66475053G>C			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.L529	ENST00000533211.1	37	c.1587	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu	ENSG00000173898		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	16	0.00	0	G	NM_006946		66475053	66475053	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.873	C
TM7SF3	51768	genome.wustl.edu	37	12	27133509	27133509	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr12:27133509G>C	ENST00000343028.4	-	8	1251	c.1026C>G	c.(1024-1026)atC>atG	p.I342M	TM7SF3_ENST00000542667.1_Intron|RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	342						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CATCATACTTGATAGGTGTCA	0.348																																						dbGAP											0													82.0	81.0	81.0					12																	27133509		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1026C>G	12.37:g.27133509G>C	ENSP00000342322:p.Ile342Met		B3KMZ3|Q9NUS4	Nonsense_Mutation	SNP	NULL	p.S123*	ENST00000343028.4	37	c.368	CCDS8710.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.864245|1.864245	0.32977|0.32977	.|.	.|.	ENSG00000064115|ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000537406;ENST00000543655;ENST00000535819|ENST00000545303	T;T;T|.	0.47177|.	1.46;0.85;0.85|.	5.09|5.09	-5.68|-5.68	0.02436|0.02436	.|.	0.492503|.	0.21792|.	N|.	0.069052|.	T|.	0.25531|.	0.0621|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.33694|.	0.421|.	B|.	0.28465|.	0.09|.	T|.	0.31392|.	-0.9945|.	10|.	0.45353|.	T|.	0.12|.	-0.0244|-0.0244	5.0735|5.0735	0.14618|0.14618	0.3059:0.4763:0.1313:0.0865|0.3059:0.4763:0.1313:0.0865	.|.	342|.	Q9NS93|.	TM7S3_HUMAN|.	M|X	342;56;11;133;133|123	ENSP00000342322:I342M;ENSP00000441924:I133M;ENSP00000445156:I133M|.	ENSP00000342322:I342M|.	I|S	-|-	3|2	3|0	TM7SF3|TM7SF3	27024776|27024776	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.450000|0.450000	0.32258|0.32258	-0.005000|-0.005000	0.12855|0.12855	-0.987000|-0.987000	0.03494|0.03494	-1.054000|-1.054000	0.02325|0.02325	ATC|TCA	TM7SF3	-	NULL	ENSG00000064115		0.348	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	189	0.53	1	G	NM_016551		27133509	27133509	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000545303	ensembl	human	putative	69_37n	nonsense	131	24.71	43	SNP	0.000	C
TM7SF3	51768	genome.wustl.edu	37	12	27133509	27133509	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr12:27133509G>C	ENST00000343028.4	-	8	1251	c.1026C>G	c.(1024-1026)atC>atG	p.I342M	TM7SF3_ENST00000542667.1_Intron|RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	342						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CATCATACTTGATAGGTGTCA	0.348																																						dbGAP											0													82.0	81.0	81.0					12																	27133509		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1026C>G	12.37:g.27133509G>C	ENSP00000342322:p.Ile342Met		B3KMZ3|Q9NUS4	Nonsense_Mutation	SNP	NULL	p.S123*	ENST00000343028.4	37	c.368	CCDS8710.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.864245|1.864245	0.32977|0.32977	.|.	.|.	ENSG00000064115|ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000537406;ENST00000543655;ENST00000535819|ENST00000545303	T;T;T|.	0.47177|.	1.46;0.85;0.85|.	5.09|5.09	-5.68|-5.68	0.02436|0.02436	.|.	0.492503|.	0.21792|.	N|.	0.069052|.	T|.	0.25531|.	0.0621|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.33694|.	0.421|.	B|.	0.28465|.	0.09|.	T|.	0.31392|.	-0.9945|.	10|.	0.45353|.	T|.	0.12|.	-0.0244|-0.0244	5.0735|5.0735	0.14618|0.14618	0.3059:0.4763:0.1313:0.0865|0.3059:0.4763:0.1313:0.0865	.|.	342|.	Q9NS93|.	TM7S3_HUMAN|.	M|X	342;56;11;133;133|123	ENSP00000342322:I342M;ENSP00000441924:I133M;ENSP00000445156:I133M|.	ENSP00000342322:I342M|.	I|S	-|-	3|2	3|0	TM7SF3|TM7SF3	27024776|27024776	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.450000|0.450000	0.32258|0.32258	-0.005000|-0.005000	0.12855|0.12855	-0.987000|-0.987000	0.03494|0.03494	-1.054000|-1.054000	0.02325|0.02325	ATC|TCA	TM7SF3	-	NULL	ENSG00000064115		0.348	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	210	0.00	0	G	NM_016551		27133509	27133509	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000545303	ensembl	human	putative	69_37n	nonsense	131	24.71	43	SNP	0.000	C
TTC7B	145567	genome.wustl.edu	37	14	91252558	91252558	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr14:91252558C>T	ENST00000328459.6	-	2	357	c.236G>A	c.(235-237)cGc>cAc	p.R79H	TTC7B_ENST00000357056.2_Missense_Mutation_p.R79H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	79								p.R79H(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CAGATGCTTGCGGACCTCAGT	0.642																																						dbGAP											1	Substitution - Missense(1)	lung(1)											45.0	46.0	46.0					14																	91252558		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.236G>A	14.37:g.91252558C>T	ENSP00000336127:p.Arg79His		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R79H	ENST00000328459.6	37	c.236	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491245	0.84962	.	.	ENSG00000165914	ENST00000357056;ENST00000328459	T;T	0.39056	1.79;1.1	5.56	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.35508	0.0934	L	0.53249	1.67	0.49798	D	0.999823	P	0.42337	0.776	B	0.34590	0.186	T	0.28299	-1.0048	10	0.59425	D	0.04	-10.7187	11.4956	0.50406	0.0:0.8558:0.0:0.1442	.	79	Q86TV6	TTC7B_HUMAN	H	79	ENSP00000349564:R79H;ENSP00000336127:R79H	ENSP00000336127:R79H	R	-	2	0	TTC7B	90322311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.570000	0.53834	1.335000	0.45486	0.655000	0.94253	CGC	TTC7B	-	NULL	ENSG00000165914		0.642	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	8	0.00	0	C			91252558	91252558	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	T
TTC7B	145567	genome.wustl.edu	37	14	91252558	91252558	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr14:91252558C>T	ENST00000328459.6	-	2	357	c.236G>A	c.(235-237)cGc>cAc	p.R79H	TTC7B_ENST00000357056.2_Missense_Mutation_p.R79H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	79								p.R79H(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CAGATGCTTGCGGACCTCAGT	0.642																																						dbGAP											1	Substitution - Missense(1)	lung(1)											45.0	46.0	46.0					14																	91252558		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.236G>A	14.37:g.91252558C>T	ENSP00000336127:p.Arg79His		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R79H	ENST00000328459.6	37	c.236	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491245	0.84962	.	.	ENSG00000165914	ENST00000357056;ENST00000328459	T;T	0.39056	1.79;1.1	5.56	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.35508	0.0934	L	0.53249	1.67	0.49798	D	0.999823	P	0.42337	0.776	B	0.34590	0.186	T	0.28299	-1.0048	10	0.59425	D	0.04	-10.7187	11.4956	0.50406	0.0:0.8558:0.0:0.1442	.	79	Q86TV6	TTC7B_HUMAN	H	79	ENSP00000349564:R79H;ENSP00000336127:R79H	ENSP00000336127:R79H	R	-	2	0	TTC7B	90322311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.570000	0.53834	1.335000	0.45486	0.655000	0.94253	CGC	TTC7B	-	NULL	ENSG00000165914		0.642	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	27	0.00	0	C			91252558	91252558	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	T
USH1G	124590	genome.wustl.edu	37	17	72916760	72916760	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr17:72916760G>C	ENST00000319642.1	-	2	353	c.171C>G	c.(169-171)gaC>gaG	p.D57E		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	57					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ACTTGTCCGGGTCACCCCTGC	0.622																																						dbGAP											0													48.0	45.0	46.0					17																	72916760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.171C>G	17.37:g.72916760G>C	ENSP00000320076:p.Asp57Glu		Q8N251	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D57E	ENST00000319642.1	37	c.171	CCDS32725.1	17	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123977	0.37533	.	.	ENSG00000182040	ENST00000319642	T	0.40225	1.04	3.8	0.692	0.18050	Ankyrin repeat-containing domain (4);	0.107194	0.64402	D	0.000007	T	0.39545	0.1082	L	0.35487	1.065	0.49798	D	0.999827	D	0.59357	0.985	P	0.60541	0.876	T	0.21075	-1.0256	10	0.20519	T	0.43	-31.8261	5.5746	0.17216	0.6254:0.0:0.3746:0.0	.	57	Q495M9	USH1G_HUMAN	E	57	ENSP00000320076:D57E	ENSP00000320076:D57E	D	-	3	2	USH1G	70428355	1.000000	0.71417	0.999000	0.59377	0.530000	0.34684	1.496000	0.35638	0.390000	0.25115	0.313000	0.20887	GAC	USH1G	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000182040		0.622	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	43	0.00	0	G	NM_173477		72916760	72916760	-1	no_errors	ENST00000319642	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	1.000	C
USH1G	124590	genome.wustl.edu	37	17	72916760	72916760	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr17:72916760G>C	ENST00000319642.1	-	2	353	c.171C>G	c.(169-171)gaC>gaG	p.D57E		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	57					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ACTTGTCCGGGTCACCCCTGC	0.622																																						dbGAP											0													48.0	45.0	46.0					17																	72916760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.171C>G	17.37:g.72916760G>C	ENSP00000320076:p.Asp57Glu		Q8N251	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D57E	ENST00000319642.1	37	c.171	CCDS32725.1	17	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123977	0.37533	.	.	ENSG00000182040	ENST00000319642	T	0.40225	1.04	3.8	0.692	0.18050	Ankyrin repeat-containing domain (4);	0.107194	0.64402	D	0.000007	T	0.39545	0.1082	L	0.35487	1.065	0.49798	D	0.999827	D	0.59357	0.985	P	0.60541	0.876	T	0.21075	-1.0256	10	0.20519	T	0.43	-31.8261	5.5746	0.17216	0.6254:0.0:0.3746:0.0	.	57	Q495M9	USH1G_HUMAN	E	57	ENSP00000320076:D57E	ENSP00000320076:D57E	D	-	3	2	USH1G	70428355	1.000000	0.71417	0.999000	0.59377	0.530000	0.34684	1.496000	0.35638	0.390000	0.25115	0.313000	0.20887	GAC	USH1G	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000182040		0.622	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	38	0.00	0	G	NM_173477		72916760	72916760	-1	no_errors	ENST00000319642	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	1.000	C
ZNF208	7757	genome.wustl.edu	37	19	22156855	22156855	+	Silent	SNP	G	G	A	rs200969060	byFrequency	TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr19:22156855G>A	ENST00000397126.4	-	4	1129	c.981C>T	c.(979-981)acC>acT	p.T327T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGTAATAAGGGTTGAGACCT	0.398													g|||	404	0.0806709	0.0756	0.0836	5008	,	,		15360	0.0764		0.0666	False		,,,				2504	0.1043					dbGAP											0													65.0	67.0	66.0					19																	22156855		1945	3921	5866	-	-	-	SO:0001819	synonymous_variant	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.981C>T	19.37:g.22156855G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T327	ENST00000397126.4	37	c.981	CCDS54240.1	19																																																																																			ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	8	0.00	0	G	NM_007153		22156855	22156855	-1	no_errors	ENST00000397126	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	0.000	A
ZNF37BP	100129482	genome.wustl.edu	37	10	43015456	43015456	+	RNA	SNP	G	G	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	13373e41-3f2b-4d8a-b67b-b83aaa87c293	g.chr10:43015456G>T	ENST00000452075.3	-	0	2138					NR_026777.1				zinc finger protein 37B, pseudogene																		CTTCTCAGATGTTCTGTGAAA	0.388																																						dbGAP											0																																										-	-	-			0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015456G>T				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.388	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	89	0.00	0	G	NR_026777		43015456	43015456	-1	no_errors	ENST00000452075	ensembl	human	known	69_37n	rna	52	28.77	21	SNP	0.994	T
ZNF37BP	100129482	genome.wustl.edu	37	10	43015456	43015456	+	RNA	SNP	G	G	T			TCGA-E2-A1BC-01A-11D-A14G-09	TCGA-E2-A1BC-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5947a9db-7d13-44ff-86ad-eb5e6c8dcec5	6a4cd52f-2247-4caf-9b37-e90b02fd4d8b	g.chr10:43015456G>T	ENST00000452075.3	-	0	2138					NR_026777.1				zinc finger protein 37B, pseudogene																		CTTCTCAGATGTTCTGTGAAA	0.388																																						dbGAP											0																																										-	-	-			0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015456G>T				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.388	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	77	0.00	0	G	NR_026777		43015456	43015456	-1	no_errors	ENST00000452075	ensembl	human	known	69_37n	rna	52	28.77	21	SNP	0.994	T
