#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCA13	154664	genome.wustl.edu	37	7	48352730	48352730	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr7:48352730G>A	ENST00000435803.1	+	25	9607	c.9583G>A	c.(9583-9585)Gcc>Acc	p.A3195T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3195					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCCTCAGCGCCTTGCTTGC	0.433																																						dbGAP											0													67.0	65.0	66.0					7																	48352730		1880	4105	5985	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9583G>A	7.37:g.48352730G>A	ENSP00000411096:p.Ala3195Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A3195T	ENST00000435803.1	37	c.9583	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763325	0.15914	.	.	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	5.72	2.32	0.28847	.	1.363850	0.04935	N	0.457552	T	0.69931	0.3166	N	0.08118	0	0.09310	N	0.999999	B;B	0.18461	0.001;0.028	B;B	0.09377	0.001;0.004	T	0.56607	-0.7951	10	0.33940	T	0.23	.	3.9803	0.09492	0.0:0.1414:0.4595:0.3991	.	897;3195	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3195	ENSP00000411096:A3195T	ENSP00000411096:A3195T	A	+	1	0	ABCA13	48323276	0.799000	0.28903	0.089000	0.20774	0.025000	0.11179	1.449000	0.35123	0.195000	0.20347	-0.264000	0.10439	GCC	ABCA13	-	NULL	ENSG00000179869		0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	31	0.00	0	G	NM_152701		48352730	48352730	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	33	30.61	15	SNP	0.055	A
ABCA13	154664	genome.wustl.edu	37	7	48352730	48352730	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr7:48352730G>A	ENST00000435803.1	+	25	9607	c.9583G>A	c.(9583-9585)Gcc>Acc	p.A3195T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3195					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCCTCAGCGCCTTGCTTGC	0.433																																						dbGAP											0													67.0	65.0	66.0					7																	48352730		1880	4105	5985	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9583G>A	7.37:g.48352730G>A	ENSP00000411096:p.Ala3195Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A3195T	ENST00000435803.1	37	c.9583	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763325	0.15914	.	.	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	5.72	2.32	0.28847	.	1.363850	0.04935	N	0.457552	T	0.69931	0.3166	N	0.08118	0	0.09310	N	0.999999	B;B	0.18461	0.001;0.028	B;B	0.09377	0.001;0.004	T	0.56607	-0.7951	10	0.33940	T	0.23	.	3.9803	0.09492	0.0:0.1414:0.4595:0.3991	.	897;3195	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3195	ENSP00000411096:A3195T	ENSP00000411096:A3195T	A	+	1	0	ABCA13	48323276	0.799000	0.28903	0.089000	0.20774	0.025000	0.11179	1.449000	0.35123	0.195000	0.20347	-0.264000	0.10439	GCC	ABCA13	-	NULL	ENSG00000179869		0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	30	0.00	0	G	NM_152701		48352730	48352730	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	33	30.61	15	SNP	0.055	A
ACAD9	28976	genome.wustl.edu	37	3	128631355	128631355	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr3:128631355C>G	ENST00000308982.7	+	18	1852	c.1771C>G	c.(1771-1773)Cca>Gca	p.P591A	KIAA1257_ENST00000511438.1_Intron|ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	591						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCAGATGCTCCAGAAAACCT	0.502																																						dbGAP											0													83.0	72.0	75.0					3																	128631355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1771C>G	3.37:g.128631355C>G	ENSP00000312618:p.Pro591Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.P591A	ENST00000308982.7	37	c.1771	CCDS3053.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.795|7.795	0.712448|0.712448	0.15306|0.15306	.|.	.|.	ENSG00000177646|ENSG00000177646	ENST00000308982;ENST00000334167|ENST00000406840	T|.	0.79845|.	-1.31|.	5.62|5.62	3.5|3.5	0.40072|0.40072	.|.	0.165066|.	0.53938|.	D|.	0.000052|.	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	B|.	0.18741|.	0.03|.	B|.	0.15052|.	0.012|.	T|T	0.74993|0.74993	-0.3474|-0.3474	10|6	0.12103|0.87932	T|D	0.63|0	.|.	10.6192|10.6192	0.45470|0.45470	0.0:0.8149:0.0:0.1851|0.0:0.8149:0.0:0.1851	.|.	591|.	Q9H845|.	ACAD9_HUMAN|.	A|C	591;458|67	ENSP00000312618:P591A|.	ENSP00000312618:P591A|ENSP00000384784:S67C	P|S	+|+	1|2	0|0	ACAD9|ACAD9	130114045|130114045	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	3.288000|3.288000	0.51739|0.51739	1.364000|1.364000	0.46038|0.46038	0.591000|0.591000	0.81541|0.81541	CCA|TCC	ACAD9	-	NULL	ENSG00000177646		0.502	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	28	0.00	0	C	NM_014049		128631355	128631355	+1	no_errors	ENST00000308982	ensembl	human	known	69_37n	missense	22	47.62	20	SNP	1.000	G
ACAD9	28976	genome.wustl.edu	37	3	128631355	128631355	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr3:128631355C>G	ENST00000308982.7	+	18	1852	c.1771C>G	c.(1771-1773)Cca>Gca	p.P591A	KIAA1257_ENST00000511438.1_Intron|ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	591						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCAGATGCTCCAGAAAACCT	0.502																																						dbGAP											0													83.0	72.0	75.0					3																	128631355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1771C>G	3.37:g.128631355C>G	ENSP00000312618:p.Pro591Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.P591A	ENST00000308982.7	37	c.1771	CCDS3053.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.795|7.795	0.712448|0.712448	0.15306|0.15306	.|.	.|.	ENSG00000177646|ENSG00000177646	ENST00000308982;ENST00000334167|ENST00000406840	T|.	0.79845|.	-1.31|.	5.62|5.62	3.5|3.5	0.40072|0.40072	.|.	0.165066|.	0.53938|.	D|.	0.000052|.	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	B|.	0.18741|.	0.03|.	B|.	0.15052|.	0.012|.	T|T	0.74993|0.74993	-0.3474|-0.3474	10|6	0.12103|0.87932	T|D	0.63|0	.|.	10.6192|10.6192	0.45470|0.45470	0.0:0.8149:0.0:0.1851|0.0:0.8149:0.0:0.1851	.|.	591|.	Q9H845|.	ACAD9_HUMAN|.	A|C	591;458|67	ENSP00000312618:P591A|.	ENSP00000312618:P591A|ENSP00000384784:S67C	P|S	+|+	1|2	0|0	ACAD9|ACAD9	130114045|130114045	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	3.288000|3.288000	0.51739|0.51739	1.364000|1.364000	0.46038|0.46038	0.591000|0.591000	0.81541|0.81541	CCA|TCC	ACAD9	-	NULL	ENSG00000177646		0.502	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	59	0.00	0	C	NM_014049		128631355	128631355	+1	no_errors	ENST00000308982	ensembl	human	known	69_37n	missense	22	47.62	20	SNP	1.000	G
ACOT8	10005	genome.wustl.edu	37	20	44485923	44485923	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr20:44485923T>G	ENST00000217455.4	-	1	122	c.32A>C	c.(31-33)cAg>cCg	p.Q11P	ZSWIM3_ENST00000454862.2_5'Flank|ZSWIM3_ENST00000255152.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	11					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GCCACAGCCCTGCCCATCTTC	0.642																																						dbGAP											0													16.0	17.0	17.0					20																	44485923		2199	4296	6495	-	-	-	SO:0001583	missense	0			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.32A>C	20.37:g.44485923T>G	ENSP00000217455:p.Gln11Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15261|Q17RX4	Missense_Mutation	SNP	pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio	p.Q11P	ENST00000217455.4	37	c.32	CCDS13378.1	20	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864703	0.51482	.	.	ENSG00000101473	ENST00000217455;ENST00000426915;ENST00000372531	.	.	.	4.54	3.42	0.39159	.	0.814765	0.11596	N	0.548245	T	0.27697	0.0681	N	0.19112	0.55	0.23043	N	0.998387	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16748	-1.0392	9	0.30078	T	0.28	.	9.788	0.40688	0.0:0.0:0.1735:0.8265	.	11;11;11	E9PRD4;B4DLF4;O14734	.;.;ACOT8_HUMAN	P	11;9;11	.	ENSP00000217455:Q11P	Q	-	2	0	ACOT8	43919330	0.047000	0.20315	0.434000	0.26772	0.110000	0.19582	1.469000	0.35343	1.043000	0.40175	0.459000	0.35465	CAG	ACOT8	-	NULL	ENSG00000101473		0.642	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT8	HGNC	protein_coding	OTTHUMT00000080338.2	13	0.00	0	T	NM_183386		44485923	44485923	-1	no_errors	ENST00000217455	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.612	G
ACOT8	10005	genome.wustl.edu	37	20	44485923	44485923	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr20:44485923T>G	ENST00000217455.4	-	1	122	c.32A>C	c.(31-33)cAg>cCg	p.Q11P	ZSWIM3_ENST00000454862.2_5'Flank|ZSWIM3_ENST00000255152.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	11					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GCCACAGCCCTGCCCATCTTC	0.642																																						dbGAP											0													16.0	17.0	17.0					20																	44485923		2199	4296	6495	-	-	-	SO:0001583	missense	0			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.32A>C	20.37:g.44485923T>G	ENSP00000217455:p.Gln11Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15261|Q17RX4	Missense_Mutation	SNP	pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio	p.Q11P	ENST00000217455.4	37	c.32	CCDS13378.1	20	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864703	0.51482	.	.	ENSG00000101473	ENST00000217455;ENST00000426915;ENST00000372531	.	.	.	4.54	3.42	0.39159	.	0.814765	0.11596	N	0.548245	T	0.27697	0.0681	N	0.19112	0.55	0.23043	N	0.998387	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16748	-1.0392	9	0.30078	T	0.28	.	9.788	0.40688	0.0:0.0:0.1735:0.8265	.	11;11;11	E9PRD4;B4DLF4;O14734	.;.;ACOT8_HUMAN	P	11;9;11	.	ENSP00000217455:Q11P	Q	-	2	0	ACOT8	43919330	0.047000	0.20315	0.434000	0.26772	0.110000	0.19582	1.469000	0.35343	1.043000	0.40175	0.459000	0.35465	CAG	ACOT8	-	NULL	ENSG00000101473		0.642	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT8	HGNC	protein_coding	OTTHUMT00000080338.2	8	0.00	0	T	NM_183386		44485923	44485923	-1	no_errors	ENST00000217455	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.612	G
AVPR1B	553	genome.wustl.edu	37	1	206224520	206224520	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr1:206224520T>A	ENST00000367126.4	+	1	545	c.80T>A	c.(79-81)cTg>cAg	p.L27Q	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	27					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACACCCTGGCTGGGCCGGGAT	0.672																																						dbGAP											0													108.0	129.0	122.0					1																	206224520		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.80T>A	1.37:g.206224520T>A	ENSP00000356094:p.Leu27Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.L27Q	ENST00000367126.4	37	c.80	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	T	8.305	0.820858	0.16678	.	.	ENSG00000198049	ENST00000367126	T	0.41400	1.0	5.05	3.92	0.45320	.	0.354783	0.20258	N	0.095929	T	0.31327	0.0793	L	0.52905	1.665	0.26595	N	0.973122	P	0.42483	0.781	B	0.37387	0.248	T	0.17623	-1.0363	10	0.28530	T	0.3	-3.7317	4.4707	0.11712	0.1709:0.0911:0.0:0.738	.	27	P47901	V1BR_HUMAN	Q	27	ENSP00000356094:L27Q	ENSP00000356094:L27Q	L	+	2	0	AVPR1B	204391143	1.000000	0.71417	0.994000	0.49952	0.157000	0.22087	2.760000	0.47581	0.945000	0.37605	0.491000	0.48974	CTG	AVPR1B	-	prints_Vprs_rcpt_V1B	ENSG00000198049		0.672	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	160	0.00	0	T	NM_000707		206224520	206224520	+1	no_errors	ENST00000367126	ensembl	human	known	69_37n	missense	206	26.76	76	SNP	0.963	A
AVPR1B	553	genome.wustl.edu	37	1	206224520	206224520	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr1:206224520T>A	ENST00000367126.4	+	1	545	c.80T>A	c.(79-81)cTg>cAg	p.L27Q	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	27					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACACCCTGGCTGGGCCGGGAT	0.672																																						dbGAP											0													108.0	129.0	122.0					1																	206224520		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.80T>A	1.37:g.206224520T>A	ENSP00000356094:p.Leu27Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.L27Q	ENST00000367126.4	37	c.80	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	T	8.305	0.820858	0.16678	.	.	ENSG00000198049	ENST00000367126	T	0.41400	1.0	5.05	3.92	0.45320	.	0.354783	0.20258	N	0.095929	T	0.31327	0.0793	L	0.52905	1.665	0.26595	N	0.973122	P	0.42483	0.781	B	0.37387	0.248	T	0.17623	-1.0363	10	0.28530	T	0.3	-3.7317	4.4707	0.11712	0.1709:0.0911:0.0:0.738	.	27	P47901	V1BR_HUMAN	Q	27	ENSP00000356094:L27Q	ENSP00000356094:L27Q	L	+	2	0	AVPR1B	204391143	1.000000	0.71417	0.994000	0.49952	0.157000	0.22087	2.760000	0.47581	0.945000	0.37605	0.491000	0.48974	CTG	AVPR1B	-	prints_Vprs_rcpt_V1B	ENSG00000198049		0.672	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	203	0.00	0	T	NM_000707		206224520	206224520	+1	no_errors	ENST00000367126	ensembl	human	known	69_37n	missense	206	26.76	76	SNP	0.963	A
CDH1	999	genome.wustl.edu	37	16	68844191	68844191	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr16:68844191C>A	ENST00000261769.5	+	6	970	c.779C>A	c.(778-780)cCc>cAc	p.P260H	CDH1_ENST00000422392.2_Missense_Mutation_p.P260H|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	260	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.P260L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACAACAAGCCCGAATTCACC	0.453			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	5	Unknown(4)|Substitution - Missense(1)	breast(5)											136.0	130.0	132.0					16																	68844191		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.779C>A	16.37:g.68844191C>A	ENSP00000261769:p.Pro260His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P260H	ENST00000261769.5	37	c.779	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352300	0.61293	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	D;D	0.84873	-1.91;-1.91	5.22	4.28	0.50868	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.49305	D	0.000154	D	0.95535	0.8549	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96636	0.9470	10	0.87932	D	0	.	12.9608	0.58458	0.0:0.92:0.0:0.08	.	260;260	Q9UII8;P12830	.;CADH1_HUMAN	H	260	ENSP00000261769:P260H;ENSP00000414946:P260H	ENSP00000261769:P260H	P	+	2	0	CDH1	67401692	1.000000	0.71417	0.732000	0.30844	0.351000	0.29236	7.487000	0.81328	1.336000	0.45506	0.557000	0.71058	CCC	CDH1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	181	0.00	0	C	NM_004360		68844191	68844191	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	86	49.41	84	SNP	0.996	A
CDH1	999	genome.wustl.edu	37	16	68844191	68844191	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr16:68844191C>A	ENST00000261769.5	+	6	970	c.779C>A	c.(778-780)cCc>cAc	p.P260H	CDH1_ENST00000422392.2_Missense_Mutation_p.P260H|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	260	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.P260L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACAACAAGCCCGAATTCACC	0.453			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	5	Unknown(4)|Substitution - Missense(1)	breast(5)											136.0	130.0	132.0					16																	68844191		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.779C>A	16.37:g.68844191C>A	ENSP00000261769:p.Pro260His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P260H	ENST00000261769.5	37	c.779	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352300	0.61293	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	D;D	0.84873	-1.91;-1.91	5.22	4.28	0.50868	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.49305	D	0.000154	D	0.95535	0.8549	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96636	0.9470	10	0.87932	D	0	.	12.9608	0.58458	0.0:0.92:0.0:0.08	.	260;260	Q9UII8;P12830	.;CADH1_HUMAN	H	260	ENSP00000261769:P260H;ENSP00000414946:P260H	ENSP00000261769:P260H	P	+	2	0	CDH1	67401692	1.000000	0.71417	0.732000	0.30844	0.351000	0.29236	7.487000	0.81328	1.336000	0.45506	0.557000	0.71058	CCC	CDH1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	223	0.00	0	C	NM_004360		68844191	68844191	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	86	49.41	84	SNP	0.996	A
DYRK1A	1859	genome.wustl.edu	37	21	38884543	38884543	+	Silent	SNP	A	A	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr21:38884543A>G	ENST00000398960.2	+	11	2076	c.2001A>G	c.(1999-2001)acA>acG	p.T667T	DYRK1A_ENST00000339659.4_Silent_p.T658T|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Silent_p.T439T	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	667	Poly-Ser.|Ser/Thr-rich.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTTCCTCGACATCTTCCTCCT	0.498																																					Melanoma(114;464 1602 31203 43785 45765)	dbGAP											0													169.0	147.0	154.0					21																	38884543		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2001A>G	21.37:g.38884543A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T667	ENST00000398960.2	37	c.2001	CCDS42925.1	21																																																																																			DYRK1A	-	NULL	ENSG00000157540		0.498	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	235	0.42	1	A	NM_001396		38884543	38884543	+1	no_errors	ENST00000398960	ensembl	human	known	69_37n	silent	144	21.31	39	SNP	1.000	G
DYRK1A	1859	genome.wustl.edu	37	21	38884543	38884543	+	Silent	SNP	A	A	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr21:38884543A>G	ENST00000398960.2	+	11	2076	c.2001A>G	c.(1999-2001)acA>acG	p.T667T	DYRK1A_ENST00000339659.4_Silent_p.T658T|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Silent_p.T439T	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	667	Poly-Ser.|Ser/Thr-rich.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTTCCTCGACATCTTCCTCCT	0.498																																					Melanoma(114;464 1602 31203 43785 45765)	dbGAP											0													169.0	147.0	154.0					21																	38884543		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2001A>G	21.37:g.38884543A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T667	ENST00000398960.2	37	c.2001	CCDS42925.1	21																																																																																			DYRK1A	-	NULL	ENSG00000157540		0.498	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	156	0.00	0	A	NM_001396		38884543	38884543	+1	no_errors	ENST00000398960	ensembl	human	known	69_37n	silent	144	21.31	39	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134920392	134920392	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr3:134920392C>A	ENST00000398015.3	+	12	2577	c.2207C>A	c.(2206-2208)gCt>gAt	p.A736D	EPHB1_ENST00000493838.1_Missense_Mutation_p.A297D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	736	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGTACCTGGCTGAGATGAAT	0.527																																						dbGAP											0													230.0	230.0	230.0					3																	134920392		2201	4300	6501	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2207C>A	3.37:g.134920392C>A	ENSP00000381097:p.Ala736Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A736D	ENST00000398015.3	37	c.2207	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143521	0.77888	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62105	0.05;0.05	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.529823	0.20033	N	0.100669	T	0.68531	0.3011	M	0.81497	2.545	0.48632	D	0.999683	B	0.12630	0.006	B	0.15052	0.012	T	0.67348	-0.5693	10	0.87932	D	0	.	19.4023	0.94635	0.0:1.0:0.0:0.0	.	736	P54762	EPHB1_HUMAN	D	736;297	ENSP00000381097:A736D;ENSP00000419574:A297D	ENSP00000381097:A736D	A	+	2	0	EPHB1	136403082	1.000000	0.71417	0.949000	0.38748	0.976000	0.68499	7.756000	0.85195	2.755000	0.94549	0.563000	0.77884	GCT	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000154928		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	578	0.34	2	C	NM_004441		134920392	134920392	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	351	41.07	246	SNP	1.000	A
EPHB1	2047	genome.wustl.edu	37	3	134920392	134920392	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr3:134920392C>A	ENST00000398015.3	+	12	2577	c.2207C>A	c.(2206-2208)gCt>gAt	p.A736D	EPHB1_ENST00000493838.1_Missense_Mutation_p.A297D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	736	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGTACCTGGCTGAGATGAAT	0.527																																						dbGAP											0													230.0	230.0	230.0					3																	134920392		2201	4300	6501	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2207C>A	3.37:g.134920392C>A	ENSP00000381097:p.Ala736Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A736D	ENST00000398015.3	37	c.2207	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143521	0.77888	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62105	0.05;0.05	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.529823	0.20033	N	0.100669	T	0.68531	0.3011	M	0.81497	2.545	0.48632	D	0.999683	B	0.12630	0.006	B	0.15052	0.012	T	0.67348	-0.5693	10	0.87932	D	0	.	19.4023	0.94635	0.0:1.0:0.0:0.0	.	736	P54762	EPHB1_HUMAN	D	736;297	ENSP00000381097:A736D;ENSP00000419574:A297D	ENSP00000381097:A736D	A	+	2	0	EPHB1	136403082	1.000000	0.71417	0.949000	0.38748	0.976000	0.68499	7.756000	0.85195	2.755000	0.94549	0.563000	0.77884	GCT	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000154928		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	472	0.00	0	C	NM_004441		134920392	134920392	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	351	41.07	246	SNP	1.000	A
AMER1	139285	genome.wustl.edu	37	X	63412049	63412049	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chrX:63412049G>A	ENST00000330258.3	-	2	1390	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	AMER1_ENST00000374869.3_Missense_Mutation_p.A373V|AMER1_ENST00000403336.1_Missense_Mutation_p.A373V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	373	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ATCTGGCAAGGCCATCTCCTC	0.532																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											151.0	139.0	143.0					X																	63412049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1118C>T	X.37:g.63412049G>A	ENSP00000329117:p.Ala373Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.A373V	ENST00000330258.3	37	c.1118	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193881	0.78902	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.28255	1.62;1.62;1.62	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.79011	2.435	0.49299	D	0.999776	D	0.89917	1.0	D	0.91635	0.999	T	0.62277	-0.6888	10	0.87932	D	0	-11.5555	16.762	0.85514	0.0:0.0:1.0:0.0	.	373	Q5JTC6	F123B_HUMAN	V	373	ENSP00000364003:A373V;ENSP00000329117:A373V;ENSP00000384722:A373V	ENSP00000329117:A373V	A	-	2	0	FAM123B	63328774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.618000	0.88619	0.600000	0.82982	GCC	FAM123B	-	pfam_Uncharacterised_FAM123	ENSG00000184675		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	545	0.18	1	G	NM_152424		63412049	63412049	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	87	57.28	118	SNP	1.000	A
AMER1	139285	genome.wustl.edu	37	X	63412049	63412049	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chrX:63412049G>A	ENST00000330258.3	-	2	1390	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	AMER1_ENST00000374869.3_Missense_Mutation_p.A373V|AMER1_ENST00000403336.1_Missense_Mutation_p.A373V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	373	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ATCTGGCAAGGCCATCTCCTC	0.532																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											151.0	139.0	143.0					X																	63412049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1118C>T	X.37:g.63412049G>A	ENSP00000329117:p.Ala373Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.A373V	ENST00000330258.3	37	c.1118	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193881	0.78902	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.28255	1.62;1.62;1.62	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.79011	2.435	0.49299	D	0.999776	D	0.89917	1.0	D	0.91635	0.999	T	0.62277	-0.6888	10	0.87932	D	0	-11.5555	16.762	0.85514	0.0:0.0:1.0:0.0	.	373	Q5JTC6	F123B_HUMAN	V	373	ENSP00000364003:A373V;ENSP00000329117:A373V;ENSP00000384722:A373V	ENSP00000329117:A373V	A	-	2	0	FAM123B	63328774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.618000	0.88619	0.600000	0.82982	GCC	FAM123B	-	pfam_Uncharacterised_FAM123	ENSG00000184675		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	385	0.00	0	G	NM_152424		63412049	63412049	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	87	57.28	118	SNP	1.000	A
SPATA31D1	389763	genome.wustl.edu	37	9	84610101	84610102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr9:84610101_84610102insC	ENST00000344803.2	+	4	4763_4764	c.4716_4717insC	c.(4717-4719)cccfs	p.P1573fs		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1573					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGGAAAATTTCCCCCCACAAA	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4722dupC	9.37:g.84610107_84610107dupC	ENSP00000341988:p.Pro1573fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.T1574fs	ENST00000344803.2	37	c.4716_4717	CCDS47986.1	9																																																																																			FAM75D1	-	NULL	ENSG00000214929		0.421	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	28	0.00	0	-	NM_001001670		84610101	84610102	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.000:0.014	C
SPATA31D1	389763	genome.wustl.edu	37	9	84610101	84610102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr9:84610101_84610102insC	ENST00000344803.2	+	4	4763_4764	c.4716_4717insC	c.(4717-4719)cccfs	p.P1573fs		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1573					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGGAAAATTTCCCCCCACAAA	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4722dupC	9.37:g.84610107_84610107dupC	ENSP00000341988:p.Pro1573fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.T1574fs	ENST00000344803.2	37	c.4716_4717	CCDS47986.1	9																																																																																			FAM75D1	-	NULL	ENSG00000214929		0.421	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	22	0.00	0	-	NM_001001670		84610101	84610102	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.000:0.014	C
FAM87B	400728	genome.wustl.edu	37	1	754182	754182	+	lincRNA	SNP	A	A	G	rs3131969	byFrequency	TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr1:754182A>G	ENST00000326734.1	+	0	912				RP11-206L10.10_ENST00000435300.1_RNA	NR_103536.1				family with sequence similarity 87, member B																		tccGGACTCCATTCGCCTCCA	0.582													.|||	3398	0.678514	0.3525	0.7565	5008	,	,		16315	0.7331		0.8718	False		,,,				2504	0.8088					dbGAP											0																																										-	-	-			0			AK097327		1p36.33	2013-02-01			ENSG00000177757	ENSG00000177757		"""Long non-coding RNAs"""	32236	non-coding RNA	RNA, long non-coding							Standard	NR_103536		Approved	FLJ40008		Q8N852	OTTHUMG00000002471		1.37:g.754182A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000326734.1	37	NULL		1																																																																																			FAM87B	-	-	ENSG00000177757		0.582	FAM87B-001	KNOWN	basic	lincRNA	FAM87B	HGNC	lincRNA	OTTHUMT00000007025.1	24	0.00	0	A			754182	754182	+1	no_errors	ENST00000326734	ensembl	human	known	69_37n	rna	0	100.00	7	SNP	0.003	G
FAM87B	400728	genome.wustl.edu	37	1	754192	754192	+	lincRNA	SNP	A	A	G	rs3131968	byFrequency	TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr1:754192A>G	ENST00000326734.1	+	0	922				RP11-206L10.10_ENST00000435300.1_RNA	NR_103536.1				family with sequence similarity 87, member B																		ATTCGCCTCCACTCTCAGGTT	0.567													.|||	3398	0.678514	0.3525	0.7565	5008	,	,		16981	0.7331		0.8718	False		,,,				2504	0.8088					dbGAP											0																																										-	-	-			0			AK097327		1p36.33	2013-02-01			ENSG00000177757	ENSG00000177757		"""Long non-coding RNAs"""	32236	non-coding RNA	RNA, long non-coding							Standard	NR_103536		Approved	FLJ40008		Q8N852	OTTHUMG00000002471		1.37:g.754192A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000326734.1	37	NULL		1																																																																																			FAM87B	-	-	ENSG00000177757		0.567	FAM87B-001	KNOWN	basic	lincRNA	FAM87B	HGNC	lincRNA	OTTHUMT00000007025.1	29	0.00	0	A			754192	754192	+1	no_errors	ENST00000326734	ensembl	human	known	69_37n	rna	0	100.00	8	SNP	0.002	G
GPR39	2863	genome.wustl.edu	37	2	133175212	133175212	+	Silent	SNP	C	C	T	rs574340257		TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr2:133175212C>T	ENST00000329321.3	+	1	1066	c.597C>T	c.(595-597)caC>caT	p.H199H		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	199					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGCCACCACGAGCAGCCCG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17325	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													70.0	67.0	68.0					2																	133175212		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.597C>T	2.37:g.133175212C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.H199	ENST00000329321.3	37	c.597	CCDS2170.1	2																																																																																			GPR39	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183840		0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	50	0.00	0	C			133175212	133175212	+1	no_errors	ENST00000329321	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.223	T
GSDMC	56169	genome.wustl.edu	37	8	130777949	130777949	+	Silent	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr8:130777949G>A	ENST00000276708.4	-	4	1376	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	165						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGTATTGTTGATCAGTTCAA	0.453																																						dbGAP											0													114.0	105.0	108.0					8																	130777949		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.495C>T	8.37:g.130777949G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKF3|Q6P494	Silent	SNP	pfam_Gasdermin	p.I165	ENST00000276708.4	37	c.495	CCDS6360.1	8																																																																																			GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.453	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	104	0.95	1	G			130777949	130777949	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	silent	177	29.64	75	SNP	0.001	A
GSDMC	56169	genome.wustl.edu	37	8	130777949	130777949	+	Silent	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr8:130777949G>A	ENST00000276708.4	-	4	1376	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	165						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGTATTGTTGATCAGTTCAA	0.453																																						dbGAP											0													114.0	105.0	108.0					8																	130777949		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.495C>T	8.37:g.130777949G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKF3|Q6P494	Silent	SNP	pfam_Gasdermin	p.I165	ENST00000276708.4	37	c.495	CCDS6360.1	8																																																																																			GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.453	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	142	0.00	0	G			130777949	130777949	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	silent	177	29.64	75	SNP	0.001	A
KIAA0430	9665	genome.wustl.edu	37	16	15692757	15692757	+	Silent	SNP	T	T	C	rs200228717		TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr16:15692757T>C	ENST00000396368.3	-	26	5144	c.4938A>G	c.(4936-4938)caA>caG	p.Q1646Q	KIAA0430_ENST00000548025.1_Silent_p.Q1643Q|KIAA0430_ENST00000602337.1_Silent_p.Q1643Q|KIAA0430_ENST00000344181.3_Silent_p.Q1334Q|KIAA0430_ENST00000551742.1_Silent_p.Q1646Q|KIAA0430_ENST00000540441.2_Silent_p.Q1481Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1646					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GATCAGCAGATTGGAGGATAA	0.572													.|||	1	0.000199681	0.0	0.0	5008	,	,		14196	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													66.0	73.0	71.0					16																	15692757		1998	4171	6169	-	-	-	SO:0001819	synonymous_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4938A>G	16.37:g.15692757T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.Q1646	ENST00000396368.3	37	c.4938	CCDS10562.2	16																																																																																			KIAA0430	-	NULL	ENSG00000166783		0.572	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	25	0.00	0	T	NM_014647		15692757	15692757	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	silent	33	56.58	43	SNP	0.191	C
HS3ST4	9951	genome.wustl.edu	37	16	26147359	26147359	+	Silent	SNP	T	T	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr16:26147359T>C	ENST00000331351.5	+	2	1553	c.1161T>C	c.(1159-1161)taT>taC	p.Y387Y	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	387					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGCATTTCTATTTCAACAAAA	0.512																																						dbGAP											0													58.0	56.0	57.0					16																	26147359		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1161T>C	16.37:g.26147359T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom	p.Y387	ENST00000331351.5	37	c.1161	CCDS53995.1	16																																																																																			HS3ST4	-	pfam_Sulfotransferase_dom	ENSG00000182601		0.512	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	197	0.51	1	T	NM_006040		26147359	26147359	+1	no_errors	ENST00000331351	ensembl	human	known	69_37n	silent	109	43.30	84	SNP	0.999	C
HS3ST4	9951	genome.wustl.edu	37	16	26147359	26147359	+	Silent	SNP	T	T	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr16:26147359T>C	ENST00000331351.5	+	2	1553	c.1161T>C	c.(1159-1161)taT>taC	p.Y387Y	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	387					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGCATTTCTATTTCAACAAAA	0.512																																						dbGAP											0													58.0	56.0	57.0					16																	26147359		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1161T>C	16.37:g.26147359T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom	p.Y387	ENST00000331351.5	37	c.1161	CCDS53995.1	16																																																																																			HS3ST4	-	pfam_Sulfotransferase_dom	ENSG00000182601		0.512	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	155	0.00	0	T	NM_006040		26147359	26147359	+1	no_errors	ENST00000331351	ensembl	human	known	69_37n	silent	109	43.30	84	SNP	0.999	C
KIF21B	23046	genome.wustl.edu	37	1	200969636	200969636	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr1:200969636C>T	ENST00000422435.2	-	11	1883	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T	KIF21B_ENST00000360529.5_Missense_Mutation_p.A523T|KIF21B_ENST00000332129.2_Missense_Mutation_p.A523T|KIF21B_ENST00000461742.2_Missense_Mutation_p.A523T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	523					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGGCCGGGGCGGCTGGAGAA	0.652																																						dbGAP											0													40.0	49.0	46.0					1																	200969636		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1567G>A	1.37:g.200969636C>T	ENSP00000411831:p.Ala523Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.A523T	ENST00000422435.2	37	c.1567	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	2.837	-0.241305	0.05906	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.70869	-0.17;-0.48;-0.52;-0.21	5.17	0.91	0.19337	.	0.386638	0.25363	N	0.031215	T	0.40645	0.1125	N	0.10874	0.06	0.09310	N	1	B;B;B;B	0.22003	0.003;0.001;0.063;0.001	B;B;B;B	0.14023	0.001;0.001;0.01;0.002	T	0.12319	-1.0552	10	0.14656	T	0.56	.	3.1898	0.06613	0.1092:0.5134:0.1489:0.2285	.	523;523;523;523	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	523	ENSP00000328494:A523T;ENSP00000353724:A523T;ENSP00000433808:A523T;ENSP00000411831:A523T	ENSP00000328494:A523T	A	-	1	0	KIF21B	199236259	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	-0.132000	0.10467	0.197000	0.20387	-0.426000	0.05927	GCC	KIF21B	-	NULL	ENSG00000116852		0.652	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	25	0.00	0	C	XM_371332		200969636	200969636	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	35	38.98	23	SNP	0.000	T
KIF21B	23046	genome.wustl.edu	37	1	200969636	200969636	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr1:200969636C>T	ENST00000422435.2	-	11	1883	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T	KIF21B_ENST00000360529.5_Missense_Mutation_p.A523T|KIF21B_ENST00000332129.2_Missense_Mutation_p.A523T|KIF21B_ENST00000461742.2_Missense_Mutation_p.A523T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	523					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGGCCGGGGCGGCTGGAGAA	0.652																																						dbGAP											0													40.0	49.0	46.0					1																	200969636		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1567G>A	1.37:g.200969636C>T	ENSP00000411831:p.Ala523Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.A523T	ENST00000422435.2	37	c.1567	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	2.837	-0.241305	0.05906	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.70869	-0.17;-0.48;-0.52;-0.21	5.17	0.91	0.19337	.	0.386638	0.25363	N	0.031215	T	0.40645	0.1125	N	0.10874	0.06	0.09310	N	1	B;B;B;B	0.22003	0.003;0.001;0.063;0.001	B;B;B;B	0.14023	0.001;0.001;0.01;0.002	T	0.12319	-1.0552	10	0.14656	T	0.56	.	3.1898	0.06613	0.1092:0.5134:0.1489:0.2285	.	523;523;523;523	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	523	ENSP00000328494:A523T;ENSP00000353724:A523T;ENSP00000433808:A523T;ENSP00000411831:A523T	ENSP00000328494:A523T	A	-	1	0	KIF21B	199236259	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	-0.132000	0.10467	0.197000	0.20387	-0.426000	0.05927	GCC	KIF21B	-	NULL	ENSG00000116852		0.652	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	47	0.00	0	C	XM_371332		200969636	200969636	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	35	38.98	23	SNP	0.000	T
KRTAP10-5	386680	genome.wustl.edu	37	21	46000198	46000198	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr21:46000198C>G	ENST00000400372.1	-	1	283	c.258G>C	c.(256-258)caG>caC	p.Q86H	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	86	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						cgcagcaggcctgctggcagg	0.667																																						dbGAP											0													53.0	56.0	55.0					21																	46000198		2200	4297	6497	-	-	-	SO:0001583	missense	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.258G>C	21.37:g.46000198C>G	ENSP00000383223:p.Gln86His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.Q86H	ENST00000400372.1	37	c.258	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	c	2.432	-0.330558	0.05314	.	.	ENSG00000241123	ENST00000400372	T	0.00737	5.76	3.5	-4.66	0.03329	.	.	.	.	.	T	0.01489	0.0048	M	0.91196	3.185	0.09310	N	1	B	0.25850	0.136	B	0.27262	0.078	T	0.38845	-0.9642	9	0.72032	D	0.01	.	1.8832	0.03232	0.1284:0.2064:0.381:0.2842	.	86	P60370	KR105_HUMAN	H	86	ENSP00000383223:Q86H	ENSP00000383223:Q86H	Q	-	3	2	KRTAP10-5	44824626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.138000	0.03216	-0.727000	0.04888	-0.519000	0.04390	CAG	KRTAP10-5	-	NULL	ENSG00000241123		0.667	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	373	0.00	0	C			46000198	46000198	-1	no_errors	ENST00000400372	ensembl	human	known	69_37n	missense	147	38.08	91	SNP	0.000	G
KRTAP10-5	386680	genome.wustl.edu	37	21	46000198	46000198	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr21:46000198C>G	ENST00000400372.1	-	1	283	c.258G>C	c.(256-258)caG>caC	p.Q86H	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	86	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						cgcagcaggcctgctggcagg	0.667																																						dbGAP											0													53.0	56.0	55.0					21																	46000198		2200	4297	6497	-	-	-	SO:0001583	missense	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.258G>C	21.37:g.46000198C>G	ENSP00000383223:p.Gln86His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.Q86H	ENST00000400372.1	37	c.258	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	c	2.432	-0.330558	0.05314	.	.	ENSG00000241123	ENST00000400372	T	0.00737	5.76	3.5	-4.66	0.03329	.	.	.	.	.	T	0.01489	0.0048	M	0.91196	3.185	0.09310	N	1	B	0.25850	0.136	B	0.27262	0.078	T	0.38845	-0.9642	9	0.72032	D	0.01	.	1.8832	0.03232	0.1284:0.2064:0.381:0.2842	.	86	P60370	KR105_HUMAN	H	86	ENSP00000383223:Q86H	ENSP00000383223:Q86H	Q	-	3	2	KRTAP10-5	44824626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.138000	0.03216	-0.727000	0.04888	-0.519000	0.04390	CAG	KRTAP10-5	-	NULL	ENSG00000241123		0.667	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	333	0.00	0	C			46000198	46000198	-1	no_errors	ENST00000400372	ensembl	human	known	69_37n	missense	147	38.08	91	SNP	0.000	G
KRTAP5-1	387264	genome.wustl.edu	37	11	1606146	1606147	+	In_Frame_Ins	INS	-	-	GCC	rs138363822|rs199501537	byFrequency	TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr11:1606146_1606147insGCC	ENST00000382171.2	-	1	366_367	c.333_334insGGC	c.(331-336)tcttgt>tctGGCtgt	p.111_112SC>SGC	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	111	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATCCCCCACAAGAGCCACAGC	0.663																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.333_334insGGC	11.37:g.1606146_1606147insGCC	ENSP00000371606:p.Ser111_Cys112insGly	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	NULL	p.111in_frame_insG	ENST00000382171.2	37	c.334_333	CCDS31330.1	11																																																																																			KRTAP5-1	-	NULL	ENSG00000205869		0.663	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	HGNC	protein_coding	OTTHUMT00000127922.1	16	0.00	0	-	NM_001005922		1606146	1606147	-1	no_errors	ENST00000382171	ensembl	human	known	69_37n	in_frame_ins	23	34.29	12	INS	0.458:0.354	GCC
LCE2B	26239	genome.wustl.edu	37	1	152659368	152659368	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr1:152659368C>A	ENST00000368780.3	+	2	103	c.49C>A	c.(49-51)Cct>Act	p.P17T	LCE2B_ENST00000417924.2_Missense_Mutation_p.P17T	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	17	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCAAGTGTCCTCCCAAGTG	0.507																																						dbGAP											0													112.0	113.0	112.0					1																	152659368		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.49C>A	1.37:g.152659368C>A	ENSP00000357769:p.Pro17Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA80	Missense_Mutation	SNP	NULL	p.P17T	ENST00000368780.3	37	c.49	CCDS1020.1	1	.	.	.	.	.	.	.	.	.	.	C	7.606	0.673791	0.14841	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03717	3.83;3.83	2.56	2.56	0.30785	.	.	.	.	.	T	0.02929	0.0087	N	0.17082	0.46	0.23555	N	0.997429	D	0.69078	0.997	D	0.68483	0.958	T	0.48007	-0.9072	9	0.87932	D	0	.	8.6001	0.33740	0.0:1.0:0.0:0.0	.	17	O14633	LCE2B_HUMAN	T	17	ENSP00000414043:P17T;ENSP00000357769:P17T	ENSP00000357769:P17T	P	+	1	0	LCE2B	150925992	0.000000	0.05858	0.959000	0.39883	0.816000	0.46133	-1.903000	0.01594	1.423000	0.47198	0.313000	0.20887	CCT	LCE2B	-	NULL	ENSG00000159455		0.507	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2B	HGNC	protein_coding	OTTHUMT00000034524.1	395	0.25	1	C	NM_014357		152659368	152659368	+1	no_errors	ENST00000368780	ensembl	human	known	69_37n	missense	444	51.20	468	SNP	0.996	A
LCE2B	26239	genome.wustl.edu	37	1	152659368	152659368	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr1:152659368C>A	ENST00000368780.3	+	2	103	c.49C>A	c.(49-51)Cct>Act	p.P17T	LCE2B_ENST00000417924.2_Missense_Mutation_p.P17T	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	17	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCAAGTGTCCTCCCAAGTG	0.507																																						dbGAP											0													112.0	113.0	112.0					1																	152659368		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.49C>A	1.37:g.152659368C>A	ENSP00000357769:p.Pro17Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA80	Missense_Mutation	SNP	NULL	p.P17T	ENST00000368780.3	37	c.49	CCDS1020.1	1	.	.	.	.	.	.	.	.	.	.	C	7.606	0.673791	0.14841	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03717	3.83;3.83	2.56	2.56	0.30785	.	.	.	.	.	T	0.02929	0.0087	N	0.17082	0.46	0.23555	N	0.997429	D	0.69078	0.997	D	0.68483	0.958	T	0.48007	-0.9072	9	0.87932	D	0	.	8.6001	0.33740	0.0:1.0:0.0:0.0	.	17	O14633	LCE2B_HUMAN	T	17	ENSP00000414043:P17T;ENSP00000357769:P17T	ENSP00000357769:P17T	P	+	1	0	LCE2B	150925992	0.000000	0.05858	0.959000	0.39883	0.816000	0.46133	-1.903000	0.01594	1.423000	0.47198	0.313000	0.20887	CCT	LCE2B	-	NULL	ENSG00000159455		0.507	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2B	HGNC	protein_coding	OTTHUMT00000034524.1	394	0.00	0	C	NM_014357		152659368	152659368	+1	no_errors	ENST00000368780	ensembl	human	known	69_37n	missense	444	51.20	468	SNP	0.996	A
MALAT1	378938	genome.wustl.edu	37	11	65270001	65270004	+	lincRNA	DEL	TGTT	TGTT	-			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr11:65270001_65270004delTGTT	ENST00000534336.1	+	0	4769_4772					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TAAACTTATCTGTTTGTAAATTGT	0.294																																						dbGAP											0																																										-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270001_65270004delTGTT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.294	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	77	0.00	0	TGTT	NR_002819		65270001	65270004	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	50	33.33	25	DEL	0.002:0.001:0.204:0.198	-
MALAT1	378938	genome.wustl.edu	37	11	65270001	65270004	+	lincRNA	DEL	TGTT	TGTT	-			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr11:65270001_65270004delTGTT	ENST00000534336.1	+	0	4769_4772					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TAAACTTATCTGTTTGTAAATTGT	0.294																																						dbGAP											0																																										-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270001_65270004delTGTT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.294	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	64	0.00	0	TGTT	NR_002819		65270001	65270004	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	50	33.33	25	DEL	0.002:0.001:0.204:0.198	-
MMRN1	22915	genome.wustl.edu	37	4	90816310	90816310	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr4:90816310C>T	ENST00000394980.1	+	2	507	c.188C>T	c.(187-189)gCg>gTg	p.A63V	MMRN1_ENST00000264790.2_Missense_Mutation_p.A63V|MMRN1_ENST00000394981.1_Missense_Mutation_p.A63V			Q13201	MMRN1_HUMAN	multimerin 1	63					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTCATGTCGGCGGAGATAGCT	0.473																																						dbGAP											0													65.0	68.0	67.0					4																	90816310		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.188C>T	4.37:g.90816310C>T	ENSP00000378431:p.Ala63Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.A63V	ENST00000394980.1	37	c.188	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590642	0.46214	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.73363	0.03;0.03;-0.74	4.67	4.67	0.58626	.	0.619346	0.14270	N	0.330194	T	0.65698	0.2716	L	0.51422	1.61	0.09310	N	1	P;P	0.46706	0.883;0.84	B;B	0.34180	0.177;0.129	T	0.63296	-0.6669	10	0.45353	T	0.12	.	13.8019	0.63206	0.0:1.0:0.0:0.0	.	63;63	Q13201-2;Q13201	.;MMRN1_HUMAN	V	63	ENSP00000378431:A63V;ENSP00000264790:A63V;ENSP00000378432:A63V	ENSP00000264790:A63V	A	+	2	0	MMRN1	91035333	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.202000	0.17295	2.530000	0.85305	0.563000	0.77884	GCG	MMRN1	-	NULL	ENSG00000138722		0.473	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	170	0.00	0	C	NM_007351		90816310	90816310	+1	no_errors	ENST00000264790	ensembl	human	known	69_37n	missense	78	39.06	50	SNP	0.093	T
MMRN1	22915	genome.wustl.edu	37	4	90816310	90816310	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr4:90816310C>T	ENST00000394980.1	+	2	507	c.188C>T	c.(187-189)gCg>gTg	p.A63V	MMRN1_ENST00000264790.2_Missense_Mutation_p.A63V|MMRN1_ENST00000394981.1_Missense_Mutation_p.A63V			Q13201	MMRN1_HUMAN	multimerin 1	63					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTCATGTCGGCGGAGATAGCT	0.473																																						dbGAP											0													65.0	68.0	67.0					4																	90816310		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.188C>T	4.37:g.90816310C>T	ENSP00000378431:p.Ala63Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.A63V	ENST00000394980.1	37	c.188	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590642	0.46214	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.73363	0.03;0.03;-0.74	4.67	4.67	0.58626	.	0.619346	0.14270	N	0.330194	T	0.65698	0.2716	L	0.51422	1.61	0.09310	N	1	P;P	0.46706	0.883;0.84	B;B	0.34180	0.177;0.129	T	0.63296	-0.6669	10	0.45353	T	0.12	.	13.8019	0.63206	0.0:1.0:0.0:0.0	.	63;63	Q13201-2;Q13201	.;MMRN1_HUMAN	V	63	ENSP00000378431:A63V;ENSP00000264790:A63V;ENSP00000378432:A63V	ENSP00000264790:A63V	A	+	2	0	MMRN1	91035333	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.202000	0.17295	2.530000	0.85305	0.563000	0.77884	GCG	MMRN1	-	NULL	ENSG00000138722		0.473	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	119	0.00	0	C	NM_007351		90816310	90816310	+1	no_errors	ENST00000264790	ensembl	human	known	69_37n	missense	78	39.06	50	SNP	0.093	T
NLRX1	79671	genome.wustl.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1884)atggggfs	p.MG627fs	NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.MG627fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1887dupG	11.37:g.119050617_119050617dupG	ENSP00000387334:p.Met627fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Ins	INS	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L630fs	ENST00000409109.1	37	c.1880_1881	CCDS8416.1	11																																																																																			NLRX1	-	NULL	ENSG00000160703		0.624	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	74	0.00	0	-	NM_170722		119050610	119050611	+1	no_errors	ENST00000292199	ensembl	human	known	69_37n	frame_shift_ins	34	12.82	5	INS	1.000:1.000	G
NT5DC1	221294	genome.wustl.edu	37	6	116544201	116544201	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr6:116544201G>A	ENST00000319550.4	+	8	791	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	237							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TTTTAGGAATGATTTTACAGA	0.343																																					Colon(128;1440 1664 38087 41475 42869)	dbGAP											0													115.0	116.0	116.0					6																	116544201		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.709G>A	6.37:g.116544201G>A	ENSP00000326858:p.Asp237Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	p.D237N	ENST00000319550.4	37	c.709	CCDS5104.1	6	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668958	0.67814	.	.	ENSG00000178425	ENST00000319550	T	0.24908	1.83	4.93	4.05	0.47172	HAD-like domain (2);	0.102956	0.64402	D	0.000004	T	0.12902	0.0313	L	0.43923	1.385	0.54753	D	0.999982	P;B;P	0.41848	0.763;0.245;0.528	P;B;B	0.45946	0.498;0.364;0.314	T	0.05257	-1.0896	10	0.28530	T	0.3	-8.271	7.5001	0.27513	0.0836:0.0:0.7499:0.1666	.	187;237;237	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	N	237	ENSP00000326858:D237N	ENSP00000326858:D237N	D	+	1	0	NT5DC1	116650894	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	4.767000	0.62286	1.068000	0.40764	0.561000	0.74099	GAT	NT5DC1	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	ENSG00000178425		0.343	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC1	HGNC	protein_coding	OTTHUMT00000041931.3	70	0.00	0	G	NM_152729		116544201	116544201	+1	no_errors	ENST00000319550	ensembl	human	known	69_37n	missense	70	43.55	54	SNP	1.000	A
NT5DC1	221294	genome.wustl.edu	37	6	116544201	116544201	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr6:116544201G>A	ENST00000319550.4	+	8	791	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	237							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TTTTAGGAATGATTTTACAGA	0.343																																					Colon(128;1440 1664 38087 41475 42869)	dbGAP											0													115.0	116.0	116.0					6																	116544201		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.709G>A	6.37:g.116544201G>A	ENSP00000326858:p.Asp237Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	p.D237N	ENST00000319550.4	37	c.709	CCDS5104.1	6	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668958	0.67814	.	.	ENSG00000178425	ENST00000319550	T	0.24908	1.83	4.93	4.05	0.47172	HAD-like domain (2);	0.102956	0.64402	D	0.000004	T	0.12902	0.0313	L	0.43923	1.385	0.54753	D	0.999982	P;B;P	0.41848	0.763;0.245;0.528	P;B;B	0.45946	0.498;0.364;0.314	T	0.05257	-1.0896	10	0.28530	T	0.3	-8.271	7.5001	0.27513	0.0836:0.0:0.7499:0.1666	.	187;237;237	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	N	237	ENSP00000326858:D237N	ENSP00000326858:D237N	D	+	1	0	NT5DC1	116650894	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	4.767000	0.62286	1.068000	0.40764	0.561000	0.74099	GAT	NT5DC1	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	ENSG00000178425		0.343	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC1	HGNC	protein_coding	OTTHUMT00000041931.3	115	0.00	0	G	NM_152729		116544201	116544201	+1	no_errors	ENST00000319550	ensembl	human	known	69_37n	missense	70	43.55	54	SNP	1.000	A
PCDHB6	56130	genome.wustl.edu	37	5	140530408	140530408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr5:140530408delC	ENST00000231136.1	+	1	570	c.570delC	c.(568-570)ttcfs	p.F190fs	PCDHB6_ENST00000543635.1_Frame_Shift_Del_p.F54fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGAAGTTCCCGGAGCTGG	0.612																																						dbGAP											0													96.0	100.0	99.0					5																	140530408		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.570delC	5.37:g.140530408delC	ENSP00000231136:p.Phe190fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R9	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P191fs	ENST00000231136.1	37	c.570	CCDS4248.1	5																																																																																			PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	225	0.00	0	C	NM_018939		140530408	140530408	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	frame_shift_del	225	24.75	75	DEL	0.025	-
PCDHB6	56130	genome.wustl.edu	37	5	140530408	140530408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr5:140530408delC	ENST00000231136.1	+	1	570	c.570delC	c.(568-570)ttcfs	p.F190fs	PCDHB6_ENST00000543635.1_Frame_Shift_Del_p.F54fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGAAGTTCCCGGAGCTGG	0.612																																						dbGAP											0													96.0	100.0	99.0					5																	140530408		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.570delC	5.37:g.140530408delC	ENSP00000231136:p.Phe190fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R9	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P191fs	ENST00000231136.1	37	c.570	CCDS4248.1	5																																																																																			PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	116	0.00	0	C	NM_018939		140530408	140530408	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	frame_shift_del	225	24.75	75	DEL	0.025	-
PHF12	57649	genome.wustl.edu	37	17	27238154	27238154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr17:27238154G>A	ENST00000332830.4	-	10	3001	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	PHF12_ENST00000577226.1_Nonsense_Mutation_p.R731*|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAAATGCTCGAAGTGAGTTG	0.498																																						dbGAP											0													184.0	141.0	156.0					17																	27238154		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2191C>T	17.37:g.27238154G>A	ENSP00000329933:p.Arg731*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.R731*	ENST00000332830.4	37	c.2191	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	G	44	11.261258	0.99538	.	.	ENSG00000109118	ENST00000332830;ENST00000378879	.	.	.	5.89	4.87	0.63330	.	0.270733	0.30920	N	0.008617	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7126	13.6019	0.62024	0.0:0.0:0.7789:0.2211	.	.	.	.	X	731	.	ENSP00000329933:R731X	R	-	1	2	PHF12	24262280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.653000	0.54446	2.793000	0.96121	0.655000	0.94253	CGA	PHF12	-	NULL	ENSG00000109118		0.498	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	35	0.00	0	G	NM_020889		27238154	27238154	-1	no_errors	ENST00000332830	ensembl	human	known	69_37n	nonsense	10	70.59	24	SNP	1.000	A
PHF12	57649	genome.wustl.edu	37	17	27238154	27238154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr17:27238154G>A	ENST00000332830.4	-	10	3001	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	PHF12_ENST00000577226.1_Nonsense_Mutation_p.R731*|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAAATGCTCGAAGTGAGTTG	0.498																																						dbGAP											0													184.0	141.0	156.0					17																	27238154		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2191C>T	17.37:g.27238154G>A	ENSP00000329933:p.Arg731*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.R731*	ENST00000332830.4	37	c.2191	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	G	44	11.261258	0.99538	.	.	ENSG00000109118	ENST00000332830;ENST00000378879	.	.	.	5.89	4.87	0.63330	.	0.270733	0.30920	N	0.008617	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7126	13.6019	0.62024	0.0:0.0:0.7789:0.2211	.	.	.	.	X	731	.	ENSP00000329933:R731X	R	-	1	2	PHF12	24262280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.653000	0.54446	2.793000	0.96121	0.655000	0.94253	CGA	PHF12	-	NULL	ENSG00000109118		0.498	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	44	0.00	0	G	NM_020889		27238154	27238154	-1	no_errors	ENST00000332830	ensembl	human	known	69_37n	nonsense	10	70.59	24	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	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	Somatic		WXS	Illumina GAIIx	Phase_IV	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	242	0.41	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	120	37.82	73	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	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	Somatic		WXS	Illumina GAIIx	Phase_IV	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	158	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	120	37.82	73	SNP	1.000	G
POGZ	23126	genome.wustl.edu	37	1	151377585	151377585	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr1:151377585A>G	ENST00000271715.2	-	19	4240	c.3926T>C	c.(3925-3927)cTa>cCa	p.L1309P	POGZ_ENST00000361398.3_Missense_Mutation_p.L1256P|POGZ_ENST00000540984.1_Missense_Mutation_p.L671P|POGZ_ENST00000491586.1_Missense_Mutation_p.L1265P|POGZ_ENST00000531094.1_Missense_Mutation_p.L1247P|POGZ_ENST00000392723.1_Missense_Mutation_p.L1256P|POGZ_ENST00000368863.2_Missense_Mutation_p.L1214P|POGZ_ENST00000409503.1_Missense_Mutation_p.L1300P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1309	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATGACACCTAGCACTTCACC	0.512																																						dbGAP											0													122.0	119.0	120.0					1																	151377585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3926T>C	1.37:g.151377585A>G	ENSP00000271715:p.Leu1309Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.L1309P	ENST00000271715.2	37	c.3926	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374693	0.61735	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.27256	5.65;5.67;5.65;5.62;5.66;5.65;1.68;5.14	5.99	5.99	0.97316	.	0.000000	0.52532	D	0.000064	T	0.32882	0.0844	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.997;0.997	D;D;D;D;D;D	0.83275	0.916;0.942;0.996;0.996;0.994;0.942	T	0.14227	-1.0480	10	0.87932	D	0	-11.7192	15.3183	0.74099	1.0:0.0:0.0:0.0	.	1247;1300;1214;1265;1256;1309	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	P	1256;1309;1256;1214;1300;1247;671;1265	ENSP00000376484:L1256P;ENSP00000271715:L1309P;ENSP00000354467:L1256P;ENSP00000357856:L1214P;ENSP00000386836:L1300P;ENSP00000431259:L1247P;ENSP00000443547:L671P;ENSP00000418408:L1265P	ENSP00000271715:L1309P	L	-	2	0	POGZ	149644209	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.944000	0.87722	2.291000	0.77112	0.533000	0.62120	CTA	POGZ	-	NULL	ENSG00000143442		0.512	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	386	0.00	0	A	NM_207171		151377585	151377585	-1	no_errors	ENST00000271715	ensembl	human	known	69_37n	missense	312	26.87	115	SNP	1.000	G
POGZ	23126	genome.wustl.edu	37	1	151377585	151377585	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr1:151377585A>G	ENST00000271715.2	-	19	4240	c.3926T>C	c.(3925-3927)cTa>cCa	p.L1309P	POGZ_ENST00000361398.3_Missense_Mutation_p.L1256P|POGZ_ENST00000540984.1_Missense_Mutation_p.L671P|POGZ_ENST00000491586.1_Missense_Mutation_p.L1265P|POGZ_ENST00000531094.1_Missense_Mutation_p.L1247P|POGZ_ENST00000392723.1_Missense_Mutation_p.L1256P|POGZ_ENST00000368863.2_Missense_Mutation_p.L1214P|POGZ_ENST00000409503.1_Missense_Mutation_p.L1300P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1309	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATGACACCTAGCACTTCACC	0.512																																						dbGAP											0													122.0	119.0	120.0					1																	151377585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3926T>C	1.37:g.151377585A>G	ENSP00000271715:p.Leu1309Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.L1309P	ENST00000271715.2	37	c.3926	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374693	0.61735	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.27256	5.65;5.67;5.65;5.62;5.66;5.65;1.68;5.14	5.99	5.99	0.97316	.	0.000000	0.52532	D	0.000064	T	0.32882	0.0844	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.997;0.997	D;D;D;D;D;D	0.83275	0.916;0.942;0.996;0.996;0.994;0.942	T	0.14227	-1.0480	10	0.87932	D	0	-11.7192	15.3183	0.74099	1.0:0.0:0.0:0.0	.	1247;1300;1214;1265;1256;1309	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	P	1256;1309;1256;1214;1300;1247;671;1265	ENSP00000376484:L1256P;ENSP00000271715:L1309P;ENSP00000354467:L1256P;ENSP00000357856:L1214P;ENSP00000386836:L1300P;ENSP00000431259:L1247P;ENSP00000443547:L671P;ENSP00000418408:L1265P	ENSP00000271715:L1309P	L	-	2	0	POGZ	149644209	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.944000	0.87722	2.291000	0.77112	0.533000	0.62120	CTA	POGZ	-	NULL	ENSG00000143442		0.512	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	329	0.00	0	A	NM_207171		151377585	151377585	-1	no_errors	ENST00000271715	ensembl	human	known	69_37n	missense	312	26.87	115	SNP	1.000	G
POTEF	728378	genome.wustl.edu	37	2	130831831	130831831	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr2:130831831G>A	ENST00000409914.2	-	17	3613	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	POTEF_ENST00000357462.5_Missense_Mutation_p.R1072C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1072	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCATTTGCGGTGGACAATG	0.502																																						dbGAP											0													38.0	37.0	38.0					2																	130831831		2185	4268	6453	-	-	-	SO:0001583	missense	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.3214C>T	2.37:g.130831831G>A	ENSP00000386786:p.Arg1072Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1072C	ENST00000409914.2	37	c.3214	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	16.01	3.002159	0.54254	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.95238	-3.65;-3.65	.	.	.	.	.	.	.	.	D	0.94198	0.8138	M	0.93241	3.395	0.80722	D	1	B	0.28208	0.203	B	0.26693	0.072	D	0.90345	0.4362	8	0.72032	D	0.01	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	1072	A5A3E0	POTEF_HUMAN	C	1072	ENSP00000350052:R1072C;ENSP00000386786:R1072C	ENSP00000350052:R1072C	R	-	1	0	POTEF	130548301	1.000000	0.71417	0.427000	0.26684	0.430000	0.31655	6.566000	0.73978	0.119000	0.18210	0.121000	0.15741	CGC	POTEF	-	pfam_Actin-like,smart_Actin-like	ENSG00000196604		0.502	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	187	0.00	0	G	NM_001099771		130831831	130831831	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	missense	82	52.33	90	SNP	1.000	A
POTEF	728378	genome.wustl.edu	37	2	130831831	130831831	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr2:130831831G>A	ENST00000409914.2	-	17	3613	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	POTEF_ENST00000357462.5_Missense_Mutation_p.R1072C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1072	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCATTTGCGGTGGACAATG	0.502																																						dbGAP											0													38.0	37.0	38.0					2																	130831831		2185	4268	6453	-	-	-	SO:0001583	missense	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.3214C>T	2.37:g.130831831G>A	ENSP00000386786:p.Arg1072Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1072C	ENST00000409914.2	37	c.3214	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	16.01	3.002159	0.54254	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.95238	-3.65;-3.65	.	.	.	.	.	.	.	.	D	0.94198	0.8138	M	0.93241	3.395	0.80722	D	1	B	0.28208	0.203	B	0.26693	0.072	D	0.90345	0.4362	8	0.72032	D	0.01	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	1072	A5A3E0	POTEF_HUMAN	C	1072	ENSP00000350052:R1072C;ENSP00000386786:R1072C	ENSP00000350052:R1072C	R	-	1	0	POTEF	130548301	1.000000	0.71417	0.427000	0.26684	0.430000	0.31655	6.566000	0.73978	0.119000	0.18210	0.121000	0.15741	CGC	POTEF	-	pfam_Actin-like,smart_Actin-like	ENSG00000196604		0.502	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	134	0.00	0	G	NM_001099771		130831831	130831831	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	missense	82	52.33	90	SNP	1.000	A
RGS7	6000	genome.wustl.edu	37	1	240975222	240975222	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr1:240975222A>C	ENST00000407727.1	-	13	1077	c.1078T>G	c.(1078-1080)Tta>Gta	p.L360V	RGS7_ENST00000366562.4_Missense_Mutation_p.L360V|RGS7_ENST00000366564.1_Missense_Mutation_p.L360V|RGS7_ENST00000331110.7_Missense_Mutation_p.L334V|RGS7_ENST00000366565.1_Missense_Mutation_p.L360V|RGS7_ENST00000401882.1_Missense_Mutation_p.L307V|RGS7_ENST00000446183.2_Missense_Mutation_p.L276V|RGS7_ENST00000348120.2_Missense_Mutation_p.L307V|RGS7_ENST00000366563.1_Missense_Mutation_p.L360V			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	360	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L360V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTACCTTAAATTTTCCGAG	0.388																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											66.0	71.0	69.0					1																	240975222		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1078T>G	1.37:g.240975222A>C	ENSP00000384428:p.Leu360Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L360V	ENST00000407727.1	37	c.1078		1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.830904	0.71258	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.8	5.8	0.92144	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.58836	0.2150	M	0.73598	2.24	0.53688	D	0.999971	P;B;P;D;P;D;P	0.63880	0.88;0.37;0.455;0.983;0.625;0.993;0.707	P;P;B;P;B;P;P	0.60949	0.881;0.448;0.413;0.88;0.413;0.88;0.672	T	0.63897	-0.6533	10	0.87932	D	0	.	9.7587	0.40519	0.9239:0.0:0.0761:0.0	.	276;334;307;360;360;360;360	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	V	334;360;360;360;191;307;276;360;360;307	ENSP00000331485:L334V;ENSP00000355523:L360V;ENSP00000355522:L360V;ENSP00000355521:L360V;ENSP00000404399:L191V;ENSP00000341242:L307V;ENSP00000390138:L276V;ENSP00000355520:L360V;ENSP00000384428:L360V;ENSP00000385508:L307V	ENSP00000331485:L334V	L	-	1	2	RGS7	239041845	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.635000	0.54309	2.226000	0.72624	0.459000	0.35465	TTA	RGS7	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000182901		0.388	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		193	0.52	1	A	NM_002924		240975222	240975222	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	missense	222	27.45	84	SNP	0.999	C
RGS7	6000	genome.wustl.edu	37	1	240975222	240975222	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr1:240975222A>C	ENST00000407727.1	-	13	1077	c.1078T>G	c.(1078-1080)Tta>Gta	p.L360V	RGS7_ENST00000366562.4_Missense_Mutation_p.L360V|RGS7_ENST00000366564.1_Missense_Mutation_p.L360V|RGS7_ENST00000331110.7_Missense_Mutation_p.L334V|RGS7_ENST00000366565.1_Missense_Mutation_p.L360V|RGS7_ENST00000401882.1_Missense_Mutation_p.L307V|RGS7_ENST00000446183.2_Missense_Mutation_p.L276V|RGS7_ENST00000348120.2_Missense_Mutation_p.L307V|RGS7_ENST00000366563.1_Missense_Mutation_p.L360V			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	360	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L360V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTACCTTAAATTTTCCGAG	0.388																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											66.0	71.0	69.0					1																	240975222		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1078T>G	1.37:g.240975222A>C	ENSP00000384428:p.Leu360Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L360V	ENST00000407727.1	37	c.1078		1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.830904	0.71258	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.8	5.8	0.92144	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.58836	0.2150	M	0.73598	2.24	0.53688	D	0.999971	P;B;P;D;P;D;P	0.63880	0.88;0.37;0.455;0.983;0.625;0.993;0.707	P;P;B;P;B;P;P	0.60949	0.881;0.448;0.413;0.88;0.413;0.88;0.672	T	0.63897	-0.6533	10	0.87932	D	0	.	9.7587	0.40519	0.9239:0.0:0.0761:0.0	.	276;334;307;360;360;360;360	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	V	334;360;360;360;191;307;276;360;360;307	ENSP00000331485:L334V;ENSP00000355523:L360V;ENSP00000355522:L360V;ENSP00000355521:L360V;ENSP00000404399:L191V;ENSP00000341242:L307V;ENSP00000390138:L276V;ENSP00000355520:L360V;ENSP00000384428:L360V;ENSP00000385508:L307V	ENSP00000331485:L334V	L	-	1	2	RGS7	239041845	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.635000	0.54309	2.226000	0.72624	0.459000	0.35465	TTA	RGS7	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000182901		0.388	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		120	0.00	0	A	NM_002924		240975222	240975222	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	missense	222	27.45	84	SNP	0.999	C
SESTD1	91404	genome.wustl.edu	37	2	180047811	180047811	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr2:180047811G>A	ENST00000428443.3	-	3	476	c.160C>T	c.(160-162)Cca>Tca	p.P54S	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	54	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.P54S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTCACCTTGGAATGCTGAGT	0.363																																						dbGAP											1	Substitution - Missense(1)	skin(1)											105.0	105.0	105.0					2																	180047811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.160C>T	2.37:g.180047811G>A	ENSP00000415332:p.Pro54Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.P54S	ENST00000428443.3	37	c.160	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818841	0.90873	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.63580	-0.05;-0.05;-0.05	5.35	5.35	0.76521	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.78285	2.405	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.80320	-0.1432	9	.	.	.	.	19.4431	0.94831	0.0:0.0:1.0:0.0	.	54	Q86VW0	SESD1_HUMAN	S	54	ENSP00000415332:P54S;ENSP00000416164:P54S;ENSP00000410286:P54S	.	P	-	1	0	SESTD1	179756056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.159000	0.94728	2.660000	0.90430	0.655000	0.94253	CCA	SESTD1	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000187231		0.363	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	84	0.00	0	G	NM_178123		180047811	180047811	-1	no_errors	ENST00000428443	ensembl	human	known	69_37n	missense	60	51.56	66	SNP	1.000	A
VILL	50853	genome.wustl.edu	37	3	38039827	38039827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr3:38039827delA	ENST00000283713.6	+	9	1180	c.914delA	c.(913-915)gagfs	p.E305fs	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Frame_Shift_Del_p.E305fs			O15195	VILL_HUMAN	villin-like	305					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCCTCCAGGAGAGAAAGGCT	0.627																																						dbGAP											0													84.0	83.0	83.0					3																	38039827		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.914delA	3.37:g.38039827delA	ENSP00000283713:p.Glu305fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Del	DEL	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.E305fs	ENST00000283713.6	37	c.914	CCDS2670.2	3																																																																																			VILL	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000136059		0.627	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	35	0.00	0	A	NM_015873		38039827	38039827	+1	no_errors	ENST00000283713	ensembl	human	known	69_37n	frame_shift_del	8	20.00	2	DEL	1.000	-
WDFY3	23001	genome.wustl.edu	37	4	85708711	85708711	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr4:85708711T>G	ENST00000295888.4	-	23	4232	c.3825A>C	c.(3823-3825)ttA>ttC	p.L1275F	WDFY3_ENST00000322366.6_Missense_Mutation_p.L1275F	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1275					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAAGAAGGTAAAACTTCTT	0.418																																						dbGAP											0													75.0	73.0	73.0					4																	85708711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3825A>C	4.37:g.85708711T>G	ENSP00000295888:p.Leu1275Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1275F	ENST00000295888.4	37	c.3825	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228559	0.39399	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.74002	-0.8;-0.8	5.94	-3.92	0.04155	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	L	0.53671	1.685	0.80722	D	1	B	0.22983	0.078	B	0.23419	0.046	T	0.49890	-0.8891	10	0.40728	T	0.16	.	15.1869	0.73009	0.0:0.6015:0.0:0.3985	.	1275	Q8IZQ1	WDFY3_HUMAN	F	1275	ENSP00000318466:L1275F;ENSP00000295888:L1275F	ENSP00000295888:L1275F	L	-	3	2	WDFY3	85927735	0.967000	0.33354	0.913000	0.36048	0.897000	0.52465	0.130000	0.15850	-0.966000	0.03587	-1.509000	0.00949	TTA	WDFY3	-	superfamily_ConA-like_lec_gl	ENSG00000163625		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	129	0.77	1	T	NM_014991		85708711	85708711	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	missense	43	50.00	43	SNP	0.969	G
WDFY3	23001	genome.wustl.edu	37	4	85708711	85708711	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr4:85708711T>G	ENST00000295888.4	-	23	4232	c.3825A>C	c.(3823-3825)ttA>ttC	p.L1275F	WDFY3_ENST00000322366.6_Missense_Mutation_p.L1275F	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1275					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAAGAAGGTAAAACTTCTT	0.418																																						dbGAP											0													75.0	73.0	73.0					4																	85708711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3825A>C	4.37:g.85708711T>G	ENSP00000295888:p.Leu1275Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1275F	ENST00000295888.4	37	c.3825	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228559	0.39399	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.74002	-0.8;-0.8	5.94	-3.92	0.04155	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	L	0.53671	1.685	0.80722	D	1	B	0.22983	0.078	B	0.23419	0.046	T	0.49890	-0.8891	10	0.40728	T	0.16	.	15.1869	0.73009	0.0:0.6015:0.0:0.3985	.	1275	Q8IZQ1	WDFY3_HUMAN	F	1275	ENSP00000318466:L1275F;ENSP00000295888:L1275F	ENSP00000295888:L1275F	L	-	3	2	WDFY3	85927735	0.967000	0.33354	0.913000	0.36048	0.897000	0.52465	0.130000	0.15850	-0.966000	0.03587	-1.509000	0.00949	TTA	WDFY3	-	superfamily_ConA-like_lec_gl	ENSG00000163625		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	81	0.00	0	T	NM_014991		85708711	85708711	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	missense	43	50.00	43	SNP	0.969	G
ZNF841	284371	genome.wustl.edu	37	19	52570087	52570087	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	931205be-0a3e-4a3a-a77b-0583f104173f	g.chr19:52570087A>C	ENST00000426391.2	-	5	1251	c.700T>G	c.(700-702)Tgt>Ggt	p.C234G	ZNF841_ENST00000359973.2_Missense_Mutation_p.C234G|ZNF841_ENST00000594295.1_Missense_Mutation_p.C350G|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.C350G			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GACTTGCCACATTCATTACAT	0.398																																						dbGAP											0													96.0	83.0	87.0					19																	52570087		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.700T>G	19.37:g.52570087A>C	ENSP00000415453:p.Cys234Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C350G	ENST00000426391.2	37	c.1048		19	.	.	.	.	.	.	.	.	.	.	A	14.71	2.618033	0.46736	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	D;D;D	0.99974	-10.2;-10.2;-10.2	2.11	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99977	0.9993	H	0.97732	4.065	0.33033	D	0.530398	D;D;P	0.89917	0.993;1.0;0.932	D;D;D	0.87578	0.992;0.998;0.971	D	0.91649	0.5333	9	0.87932	D	0	.	8.9356	0.35697	1.0:0.0:0.0:0.0	.	350;234;234	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	G	350;234;234	ENSP00000374185:C350G;ENSP00000415453:C234G;ENSP00000353060:C234G	ENSP00000353060:C234G	C	-	1	0	ZNF841	57261899	1.000000	0.71417	0.544000	0.28141	0.636000	0.38137	5.819000	0.69243	0.962000	0.38057	0.260000	0.18958	TGT	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197608		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	85	0.00	0	A	XM_209155		52570087	52570087	-1	no_errors	ENST00000389534	ensembl	human	known	69_37n	missense	75	27.88	29	SNP	0.992	C
ZNF841	284371	genome.wustl.edu	37	19	52570087	52570087	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BA-01A-11W-A071-09	TCGA-BH-A0BA-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	897874e6-cf93-4b4b-8b66-8914d13036aa	eb7e283b-158b-4b73-8460-4d89aad28b76	g.chr19:52570087A>C	ENST00000426391.2	-	5	1251	c.700T>G	c.(700-702)Tgt>Ggt	p.C234G	ZNF841_ENST00000359973.2_Missense_Mutation_p.C234G|ZNF841_ENST00000594295.1_Missense_Mutation_p.C350G|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.C350G			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GACTTGCCACATTCATTACAT	0.398																																						dbGAP											0													96.0	83.0	87.0					19																	52570087		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.700T>G	19.37:g.52570087A>C	ENSP00000415453:p.Cys234Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C350G	ENST00000426391.2	37	c.1048		19	.	.	.	.	.	.	.	.	.	.	A	14.71	2.618033	0.46736	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	D;D;D	0.99974	-10.2;-10.2;-10.2	2.11	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99977	0.9993	H	0.97732	4.065	0.33033	D	0.530398	D;D;P	0.89917	0.993;1.0;0.932	D;D;D	0.87578	0.992;0.998;0.971	D	0.91649	0.5333	9	0.87932	D	0	.	8.9356	0.35697	1.0:0.0:0.0:0.0	.	350;234;234	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	G	350;234;234	ENSP00000374185:C350G;ENSP00000415453:C234G;ENSP00000353060:C234G	ENSP00000353060:C234G	C	-	1	0	ZNF841	57261899	1.000000	0.71417	0.544000	0.28141	0.636000	0.38137	5.819000	0.69243	0.962000	0.38057	0.260000	0.18958	TGT	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197608		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	74	0.00	0	A	XM_209155		52570087	52570087	-1	no_errors	ENST00000389534	ensembl	human	known	69_37n	missense	75	27.88	29	SNP	0.992	C
