#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ARHGAP1	392	genome.wustl.edu	37	11	46702223	46702224	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr11:46702223_46702224insG	ENST00000311956.4	-	8	806_807	c.709_710insC	c.(709-711)ctgfs	p.L237fs		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	237					positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CTGGTTGGGCAGGGGGGGCCGT	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.710dupC	11.37:g.46702230_46702230dupG	ENSP00000310491:p.Leu237fs		D3DQQ6	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom	p.L237fs	ENST00000311956.4	37	c.710_709	CCDS7922.1	11																																																																																			ARHGAP1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000175220		0.639	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP1	HGNC	protein_coding	OTTHUMT00000390472.1	15	0.00	0	-	NM_004308		46702223	46702224	-1	no_errors	ENST00000311956	ensembl	human	known	69_37n	frame_shift_ins	17	19.05	4	INS	1.000:0.993	G
CCDC105	126402	genome.wustl.edu	37	19	15131381	15131381	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr19:15131381C>T	ENST00000292574.3	+	3	866	c.784C>T	c.(784-786)Cac>Tac	p.H262Y		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	262						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGCCAGACGCCACTCATGGGT	0.607																																						dbGAP											0													57.0	52.0	54.0					19																	15131381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.784C>T	19.37:g.15131381C>T	ENSP00000292574:p.His262Tyr		Q8N7T5|Q8NDL5	Missense_Mutation	SNP	pfam_Tektin	p.H262Y	ENST00000292574.3	37	c.784	CCDS12322.1	19	.	.	.	.	.	.	.	.	.	.	C	6.792	0.515163	0.12944	.	.	ENSG00000160994	ENST00000292574	T	0.02446	4.29	4.09	2.95	0.34219	.	0.386519	0.21032	N	0.081328	T	0.02455	0.0075	L	0.46157	1.445	0.23435	N	0.997682	P	0.36712	0.566	B	0.35312	0.2	T	0.29336	-1.0015	10	0.02654	T	1	-28.5621	8.5392	0.33382	0.2304:0.7696:0.0:0.0	.	262	Q8IYK2	CC105_HUMAN	Y	262	ENSP00000292574:H262Y	ENSP00000292574:H262Y	H	+	1	0	CCDC105	14992381	0.989000	0.36119	0.998000	0.56505	0.561000	0.35649	0.945000	0.29056	1.982000	0.57802	0.558000	0.71614	CAC	CCDC105	-	pfam_Tektin	ENSG00000160994		0.607	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	HGNC	protein_coding	OTTHUMT00000466293.1	109	0.00	0	C	NM_173482		15131381	15131381	+1	no_errors	ENST00000292574	ensembl	human	known	69_37n	missense	116	35.91	65	SNP	0.995	T
COL27A1	85301	genome.wustl.edu	37	9	117004482	117004482	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr9:117004482A>T	ENST00000356083.3	+	22	3242	c.2851A>T	c.(2851-2853)Atg>Ttg	p.M951L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	951	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGAGGGACCCATGGGGCCGCC	0.562																																						dbGAP											0													51.0	55.0	54.0					9																	117004482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2851A>T	9.37:g.117004482A>T	ENSP00000348385:p.Met951Leu		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.M951L	ENST00000356083.3	37	c.2851	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556021	0.27827	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93366	-3.21	5.91	3.42	0.39159	.	.	.	.	.	D	0.85864	0.5796	N	0.21448	0.665	0.23341	N	0.997872	B	0.11235	0.004	B	0.12156	0.007	T	0.72915	-0.4147	9	0.24483	T	0.36	.	6.2461	0.20818	0.6724:0.1675:0.0:0.1601	.	951	Q8IZC6	CORA1_HUMAN	L	951	ENSP00000348385:M951L	ENSP00000348385:M951L	M	+	1	0	COL27A1	116044303	0.998000	0.40836	0.994000	0.49952	0.977000	0.68977	1.859000	0.39418	1.040000	0.40099	0.533000	0.62120	ATG	COL27A1	-	NULL	ENSG00000196739		0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	42	0.00	0	A	NM_032888		117004482	117004482	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	66	38.89	42	SNP	0.985	T
CPN1	1369	genome.wustl.edu	37	10	101835672	101835672	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr10:101835672G>A	ENST00000370418.3	-	2	667	c.416C>T	c.(415-417)gCc>gTc	p.A139V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	139	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TCGTACCTGGGCAGCAGCCAC	0.557																																						dbGAP											0													78.0	70.0	72.0					10																	101835672		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.416C>T	10.37:g.101835672G>A	ENSP00000359446:p.Ala139Val		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.A139V	ENST00000370418.3	37	c.416	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	G	7.712	0.695435	0.15106	.	.	ENSG00000120054	ENST00000370418	T	0.03441	3.93	5.74	3.73	0.42828	Peptidase M14, carboxypeptidase A (2);	0.537613	0.23416	N	0.048406	T	0.04497	0.0123	L	0.35854	1.095	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.30327	-0.9982	10	0.56958	D	0.05	-10.1895	13.7147	0.62689	0.0:0.0:0.5797:0.4203	.	139	P15169	CBPN_HUMAN	V	139	ENSP00000359446:A139V	ENSP00000359446:A139V	A	-	2	0	CPN1	101825662	0.001000	0.12720	0.100000	0.21137	0.003000	0.03518	0.620000	0.24403	1.431000	0.47355	0.655000	0.94253	GCC	CPN1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000120054		0.557	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	146	0.00	0	G	NM_001308		101835672	101835672	-1	no_errors	ENST00000370418	ensembl	human	known	69_37n	missense	109	37.36	65	SNP	0.003	A
GALNT10	55568	genome.wustl.edu	37	5	153760044	153760044	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr5:153760044C>G	ENST00000297107.6	+	6	928	c.791C>G	c.(790-792)cCg>cGg	p.P264R	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.P202R|GALNT10_ENST00000425427.2_Missense_Mutation_p.P264R	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	264					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ATTGTGTGCCCGATGATTGAT	0.532																																						dbGAP											0													221.0	189.0	200.0					5																	153760044		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.791C>G	5.37:g.153760044C>G	ENSP00000297107:p.Pro264Arg		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P264R	ENST00000297107.6	37	c.791	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481779	0.84747	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.60797	0.16;0.16;0.16	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93464	0.6813	10	0.87932	D	0	.	19.2	0.93708	0.0:1.0:0.0:0.0	.	202;264;264	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	R	264;264;202	ENSP00000415210:P264R;ENSP00000297107:P264R;ENSP00000366889:P202R	ENSP00000297107:P264R	P	+	2	0	GALNT10	153740237	1.000000	0.71417	0.962000	0.40283	0.725000	0.41563	7.642000	0.83385	2.535000	0.85469	0.462000	0.41574	CCG	GALNT10	-	pfam_Glyco_trans_2	ENSG00000164574		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	74	0.00	0	C	NM_198321		153760044	153760044	+1	no_errors	ENST00000297107	ensembl	human	known	69_37n	missense	87	35.56	48	SNP	1.000	G
GPR143	4935	genome.wustl.edu	37	X	9716674	9716674	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chrX:9716674C>T	ENST00000467482.1	-	4	634	c.488G>A	c.(487-489)gGc>gAc	p.G163D	GPR143_ENST00000380929.2_Missense_Mutation_p.G183D			P51810	GP143_HUMAN	G protein-coupled receptor 143	163					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GGTGGCCAGGCCCCACGCCAT	0.637																																						dbGAP											0			GRCh37	CM034735	GPR143	M							61.0	44.0	50.0					X																	9716674		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.488G>A	X.37:g.9716674C>T	ENSP00000417161:p.Gly163Asp		Q6NTI7	Missense_Mutation	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.G183D	ENST00000467482.1	37	c.548	CCDS14134.2	X	.	.	.	.	.	.	.	.	.	.	c	25.8	4.673389	0.88445	.	.	ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126	D;D;D	0.99519	-6.07;-6.07;-6.07	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	M	0.76574	2.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98619	1.0666	10	0.87932	D	0	-16.4782	15.4836	0.75548	0.0:1.0:0.0:0.0	.	163	P51810	GP143_HUMAN	D	163;183;79	ENSP00000417161:G163D;ENSP00000370316:G183D;ENSP00000406138:G79D	ENSP00000370316:G183D	G	-	2	0	GPR143	9676674	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.035000	0.70940	1.982000	0.57802	0.509000	0.49947	GGC	GPR143	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	ENSG00000101850		0.637	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	93	0.00	0	C	NM_000273		9716674	9716674	-1	no_errors	ENST00000380929	ensembl	human	known	69_37n	missense	70	39.13	45	SNP	1.000	T
HRH2	3274	genome.wustl.edu	37	5	175110783	175110783	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr5:175110783G>A	ENST00000231683.2	+	1	2320	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	HRH2_ENST00000377291.2_Missense_Mutation_p.G183R	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	183					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TGAAGTGTACGGGCTGGTGGA	0.547																																						dbGAP											0													85.0	73.0	77.0					5																	175110783		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.547G>A	5.37:g.175110783G>A	ENSP00000231683:p.Gly183Arg		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.G183R	ENST00000231683.2	37	c.547	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989461	0.74589	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.37411	1.2;1.2	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.060921	0.64402	D	0.000003	T	0.57007	0.2024	L	0.52823	1.66	0.47308	D	0.999387	D;D	0.89917	1.0;0.981	D;P	0.77557	0.99;0.846	T	0.55108	-0.8192	10	0.51188	T	0.08	.	18.2999	0.90160	0.0:0.0:1.0:0.0	.	183;183	P25021;Q7Z5R9	HRH2_HUMAN;.	R	183	ENSP00000366506:G183R;ENSP00000231683:G183R	ENSP00000231683:G183R	G	+	1	0	HRH2	175043389	1.000000	0.71417	0.297000	0.24988	0.855000	0.48748	6.603000	0.74145	2.579000	0.87056	0.462000	0.41574	GGG	HRH2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000113749		0.547	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	220	0.45	1	G			175110783	175110783	+1	no_errors	ENST00000377291	ensembl	human	known	69_37n	missense	115	38.62	73	SNP	0.990	A
MAGEL2	54551	genome.wustl.edu	37	15	23890165	23890165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr15:23890165G>A	ENST00000532292.1	-	1	1010	c.916C>T	c.(916-918)Cag>Tag	p.Q306*		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	189	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTTGGGCCCTGCCAGTCATGA	0.632																																						dbGAP											0													41.0	50.0	47.0					15																	23890165		2124	4268	6392	-	-	-	SO:0001587	stop_gained	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.916C>T	15.37:g.23890165G>A	ENSP00000433433:p.Gln306*			Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q306*	ENST00000532292.1	37	c.916		15																																																																																			MAGEL2	-	NULL	ENSG00000254585		0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	52	0.00	0	G	NM_019066		23890165	23890165	-1	no_errors	ENST00000532292	ensembl	human	known	69_37n	nonsense	24	35.90	14	SNP	0.780	A
KMT2C	58508	genome.wustl.edu	37	7	151877053	151877054	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr7:151877053_151877054insG	ENST00000262189.6	-	37	7525_7526	c.7307_7308insC	c.(7306-7308)ccafs	p.P2436fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.P2436fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2436	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATAGGGAGGTGGGGGTCTGGT	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7308dupC	7.37:g.151877058_151877058dupG	ENSP00000262189:p.Pro2436fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P2437fs	ENST00000262189.6	37	c.7308_7307	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.545	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	74	0.00	0	-			151877053	151877054	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	244	33.88	125	INS	0.334:1.000	G
MYEF2	50804	genome.wustl.edu	37	15	48441260	48441260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr15:48441260C>T	ENST00000324324.7	-	16	1887	c.1608G>A	c.(1606-1608)tgG>tgA	p.W536*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.W512*	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	536	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTAGTTTCTGCCAAGTCAAGT	0.279																																						dbGAP											0													163.0	171.0	169.0					15																	48441260		2198	4296	6494	-	-	-	SO:0001587	stop_gained	0			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1608G>A	15.37:g.48441260C>T	ENSP00000316950:p.Trp536*		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.W536*	ENST00000324324.7	37	c.1608	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.843739	0.98522	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	.	.	.	4.53	4.53	0.55603	.	0.112497	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3486	18.1345	0.89614	0.0:1.0:0.0:0.0	.	.	.	.	X	536;512;124	.	ENSP00000267836:W512X	W	-	3	0	MYEF2	46228552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.461000	0.83175	0.591000	0.81541	TGG	MYEF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000104177		0.279	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	223	0.00	0	C	NM_016132		48441260	48441260	-1	no_errors	ENST00000324324	ensembl	human	known	69_37n	nonsense	362	34.89	194	SNP	1.000	T
MYO7A	4647	genome.wustl.edu	37	11	76910861	76910861	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr11:76910861C>A	ENST00000409709.3	+	35	5122	c.4850C>A	c.(4849-4851)cCc>cAc	p.P1617H	MYO7A_ENST00000409619.2_Missense_Mutation_p.P1568H|MYO7A_ENST00000458637.2_Missense_Mutation_p.P1579H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1617	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AACCCCAACCCCGGTGAGTGG	0.547																																						dbGAP											0													31.0	33.0	32.0					11																	76910861		1917	4117	6034	-	-	-	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4850C>A	11.37:g.76910861C>A	ENSP00000386331:p.Pro1617His		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.P1617H	ENST00000409709.3	37	c.4850	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968073	0.74131	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.06	5.06	0.68205	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.74647	2.275	0.80722	D	1	P;D;P	0.71674	0.485;0.998;0.485	B;D;B	0.69654	0.323;0.965;0.313	T	0.56757	-0.7926	10	0.48119	T	0.1	.	18.6255	0.91336	0.0:1.0:0.0:0.0	.	1568;1579;1617	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	H	1617;1579;1568;790;1616;1586;1493;760;232	ENSP00000386331:P1617H;ENSP00000392185:P1579H;ENSP00000386635:P1568H;ENSP00000417017:P760H	ENSP00000345075:P1493H	P	+	2	0	MYO7A	76588509	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.193000	0.77780	2.638000	0.89438	0.561000	0.74099	CCC	MYO7A	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000137474		0.547	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	27	0.00	0	C	NM_000260		76910861	76910861	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	missense	22	37.84	14	SNP	1.000	A
NOS1AP	9722	genome.wustl.edu	37	1	162337159	162337159	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr1:162337159G>A	ENST00000361897.5	+	10	1825	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	NOS1AP_ENST00000493151.1_Missense_Mutation_p.E180K|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E470K	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	475					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CGAGAGCGAGGAGCGCGACTC	0.657																																						dbGAP											0													22.0	20.0	21.0					1																	162337159		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1423G>A	1.37:g.162337159G>A	ENSP00000355133:p.Glu475Lys		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.E475K	ENST00000361897.5	37	c.1423	CCDS1237.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.859768	0.97036	.	.	ENSG00000198929	ENST00000530878;ENST00000361897;ENST00000493151	T;T	0.79653	-1.29;-1.29	4.82	4.82	0.62117	.	0.253973	0.44688	D	0.000423	T	0.68220	0.2977	N	0.19112	0.55	.	.	.	P;P;P	0.50156	0.932;0.888;0.608	P;B;B	0.47827	0.558;0.355;0.156	T	0.76476	-0.2945	9	0.72032	D	0.01	.	16.8171	0.85736	0.0:0.0:1.0:0.0	.	180;470;475	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	K	470;475;180	ENSP00000431586:E470K;ENSP00000355133:E475K	ENSP00000355133:E475K	E	+	1	0	NOS1AP	160603783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.826000	0.92034	2.337000	0.79520	0.655000	0.94253	GAG	NOS1AP	-	NULL	ENSG00000198929		0.657	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	21	0.00	0	G	NM_014697		162337159	162337159	+1	no_errors	ENST00000361897	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	A
NYAP1	222950	genome.wustl.edu	37	7	100087051	100087052	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr7:100087051_100087052insG	ENST00000300179.2	+	4	1866_1867	c.1707_1708insG	c.(1708-1710)gggfs	p.G570fs	NYAP1_ENST00000423930.1_Frame_Shift_Ins_p.G570fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.G513fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	570					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCCTCAAGGCTGGGGGGGTGCT	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1714dupG	7.37:g.100087058_100087058dupG	ENSP00000300179:p.Gly570fs		Q6U9Y3|Q8N1V0	Frame_Shift_Ins	INS	NULL	p.V571fs	ENST00000300179.2	37	c.1707_1708	CCDS5696.1	7																																																																																			NYAP1	-	NULL	ENSG00000166924		0.644	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	10	0.00	0	-	NM_173564		100087051	100087052	+1	no_errors	ENST00000423930	ensembl	human	known	69_37n	frame_shift_ins	2	60.00	3	INS	0.997:1.000	G
PCDH10	57575	genome.wustl.edu	37	4	134071967	134071968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr4:134071967_134071968insC	ENST00000264360.5	+	1	1498_1499	c.672_673insC	c.(673-675)cccfs	p.P225fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.679dupC	4.37:g.134071974_134071974dupC	ENSP00000264360:p.Pro225fs		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q226fs	ENST00000264360.5	37	c.672_673	CCDS34063.1	4																																																																																			PCDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.668	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	27	0.00	0	-	NM_032961		134071967	134071968	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	frame_shift_ins	19	20.83	5	INS	0.999:1.000	C
PCDHA11	56138	genome.wustl.edu	37	5	140248828	140248828	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr5:140248828G>A	ENST00000398640.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.642																																						dbGAP											0													58.0	69.0	66.0					5																	140248828		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.140G>A	5.37:g.140248828G>A	ENSP00000381636:p.Arg47His		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R47H	ENST00000398640.2	37	c.140	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985516	0.74589	.	.	ENSG00000249158	ENST00000398640	T	0.27256	1.68	5.59	5.59	0.84812	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.37210	0.0995	L	0.55213	1.73	0.30173	N	0.801147	P;D	0.54207	0.609;0.965	B;P	0.49853	0.185;0.624	T	0.30297	-0.9983	9	0.59425	D	0.04	.	16.584	0.84723	0.0:0.13:0.87:0.0	.	47;47	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	47	ENSP00000381636:R47H	ENSP00000381636:R47H	R	+	2	0	PCDHA11	140229012	0.016000	0.18221	1.000000	0.80357	0.993000	0.82548	2.196000	0.42686	2.628000	0.89032	0.655000	0.94253	CGC	PCDHA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.642	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	20	0.00	0	G	NM_018902		140248828	140248828	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	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>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		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.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	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	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	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	80	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	104	37.72	63	SNP	1.000	T
PLCB4	5332	genome.wustl.edu	37	20	9401989	9401989	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr20:9401989G>A	ENST00000378493.1	+	23	2179	c.2164G>A	c.(2164-2166)Gta>Ata	p.V722I	PLCB4_ENST00000414679.2_Missense_Mutation_p.V734I|PLCB4_ENST00000378473.3_Missense_Mutation_p.V734I|PLCB4_ENST00000378501.2_Missense_Mutation_p.V722I|PLCB4_ENST00000278655.4_Missense_Mutation_p.V722I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.V722I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	722	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGCACCTACGTAGAGGTGGA	0.418																																						dbGAP											0													110.0	101.0	104.0					20																	9401989		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2164G>A	20.37:g.9401989G>A	ENSP00000367754:p.Val722Ile		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V722I	ENST00000378493.1	37	c.2164	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013254	0.93346	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.68	5.68	0.88126	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.959;0.998	D;D;P;D	0.87578	0.998;0.968;0.893;0.915	T	0.63409	-0.6644	10	0.62326	D	0.03	.	19.7896	0.96452	0.0:0.0:1.0:0.0	.	734;569;722;722	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	722;734;722;722;722;570	ENSP00000334105:V722I;ENSP00000367734:V734I;ENSP00000278655:V722I;ENSP00000367754:V722I;ENSP00000367762:V722I;ENSP00000390616:V570I	ENSP00000278655:V722I	V	+	1	0	PLCB4	9349989	1.000000	0.71417	0.870000	0.34147	0.893000	0.52053	9.869000	0.99810	2.694000	0.91930	0.467000	0.42956	GTA	PLCB4	-	pirsf_PLC-beta,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000101333		0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	52	0.00	0	G			9401989	9401989	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	99	34.87	53	SNP	1.000	A
PPP1R13B	23368	genome.wustl.edu	37	14	104224078	104224078	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr14:104224078G>T	ENST00000202556.9	-	5	647	c.365C>A	c.(364-366)cCa>cAa	p.P122Q		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	122					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TTCAACACGTGGATTCCCAAC	0.403																																						dbGAP											0													122.0	110.0	114.0					14																	104224078		1885	4112	5997	-	-	-	SO:0001583	missense	0			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.365C>A	14.37:g.104224078G>T	ENSP00000202556:p.Pro122Gln		B2RMX5|O94870	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P122Q	ENST00000202556.9	37	c.365	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087979	0.55968	.	.	ENSG00000088808	ENST00000202556;ENST00000555734	T;T	0.31247	1.5;1.5	5.74	4.82	0.62117	.	0.151778	0.64402	N	0.000012	T	0.36991	0.0987	L	0.55481	1.735	0.80722	D	1	P	0.42483	0.781	P	0.44561	0.453	T	0.15838	-1.0423	10	0.48119	T	0.1	.	15.8801	0.79197	0.0:0.0:0.8635:0.1365	.	122	Q96KQ4	ASPP1_HUMAN	Q	122;119	ENSP00000202556:P122Q;ENSP00000452376:P119Q	ENSP00000202556:P122Q	P	-	2	0	PPP1R13B	103293831	1.000000	0.71417	0.677000	0.29947	0.998000	0.95712	4.942000	0.63547	1.357000	0.45904	0.655000	0.94253	CCA	PPP1R13B	-	NULL	ENSG00000088808		0.403	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	135	0.00	0	G	NM_015316		104224078	104224078	-1	no_errors	ENST00000202556	ensembl	human	known	69_37n	missense	159	32.05	75	SNP	0.997	T
PRKAG2	51422	genome.wustl.edu	37	7	151257608	151257609	+	Splice_Site	DEL	AC	AC	-			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr7:151257608_151257609delAC	ENST00000287878.4	-	15	2183		c.e15+1		PRKAG2_ENST00000492843.1_Splice_Site|PRKAG2_ENST00000418337.2_Splice_Site|PRKAG2_ENST00000433631.2_Splice_Site|PRKAG2_ENST00000392801.2_Splice_Site	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit						ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CCAGCATTTTACCTGCTGGTGT	0.495																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1678+1GT>-	7.37:g.151257608_151257609delAC			Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Splice_Site	DEL	-	e15+1	ENST00000287878.4	37	c.1678+1_1678+1	CCDS5928.1	7																																																																																			PRKAG2	-	-	ENSG00000106617		0.495	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	123	0.00	0	AC	NM_016203	Intron	151257608	151257609	-1	no_errors	ENST00000287878	ensembl	human	known	69_37n	splice_site_del	182	62.01	302	DEL	0.999:1.000	-
RCOR1	23186	genome.wustl.edu	37	14	103167650	103167650	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr14:103167650G>T	ENST00000570597.1	+	4	472	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W	RCOR1_ENST00000262241.6_Missense_Mutation_p.G161W			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	158	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AGAAAAGCATGGGTACAACAT	0.333																																						dbGAP											0													158.0	148.0	151.0					14																	103167650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.472G>T	14.37:g.103167650G>T	ENSP00000459789:p.Gly158Trp		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom	p.G161W	ENST00000570597.1	37	c.481		14	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586345	0.86851	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.39	5.39	0.77823	ELM2 domain (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86783	0.1980	9	0.87932	D	0	-22.3958	19.1463	0.93471	0.0:0.0:1.0:0.0	.	158	Q9UKL0	RCOR1_HUMAN	W	158	.	ENSP00000262241:G158W	G	+	1	0	RCOR1	102237403	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.835000	0.99442	2.527000	0.85204	0.655000	0.94253	GGG	RCOR1	-	pfscan_ELM2_dom	ENSG00000089902		0.333	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding		324	0.00	0	G	NM_015156		103167650	103167650	+1	no_errors	ENST00000262241	ensembl	human	known	69_37n	missense	542	33.25	270	SNP	1.000	T
SETD1B	23067	genome.wustl.edu	37	12	122242657	122242658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr12:122242657_122242658insC	ENST00000604567.1	+	2	82_83	c.14_15insC	c.(13-18)caccccfs	p.HP5fs	RHOF_ENST00000545544.1_5'Flank|RP11-347I19.8_ENST00000609067.1_lincRNA|SETD1B_ENST00000542440.1_Frame_Shift_Ins_p.HP5fs|SETD1B_ENST00000267197.5_Frame_Shift_Ins_p.HP5fs			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						GAGAACAGTCACCCCCCCCACC	0.629																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)								9,1819		1,7,906						1.9	1.0			42	13,3745		3,7,1869	no	frameshift	SETD1B	NM_015048.1		4,14,2775	A1A1,A1R,RR		0.3459,0.4923,0.3938				22,5564				-	-	-	SO:0001589	frameshift_variant	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.22dupC	12.37:g.122242665_122242665dupC	ENSP00000474253:p.His5fs		F6MFW1	Frame_Shift_Ins	INS	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H8fs	ENST00000604567.1	37	c.14_15		12																																																																																			SETD1B	-	NULL	ENSG00000139718		0.629	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	19	0.00	0	-	XM_037523		122242657	122242658	+1	no_errors	ENST00000267197	ensembl	human	known	69_37n	frame_shift_ins	35	12.50	5	INS	1.000:1.000	C
SGCZ	137868	genome.wustl.edu	37	8	14412415	14412415	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr8:14412415delT	ENST00000382080.1	-	2	775	c.60delA	c.(58-60)atafs	p.I20fs	SGCZ_ENST00000421524.2_Frame_Shift_Del_p.I7fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	7					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GGGTTGCTAGTATGTATTGTT	0.348																																						dbGAP											0													216.0	205.0	209.0					8																	14412415		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.60delA	8.37:g.14412415delT	ENSP00000371512:p.Ile20fs		Q6REU0	Frame_Shift_Del	DEL	pfam_Sarcoglycan	p.L21fs	ENST00000382080.1	37	c.60	CCDS5992.2	8																																																																																			SGCZ	-	NULL	ENSG00000185053		0.348	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	277	0.00	0	T	NM_139167		14412415	14412415	-1	no_errors	ENST00000382080	ensembl	human	known	69_37n	frame_shift_del	591	32.51	289	DEL	0.953	-
SMYD3	64754	genome.wustl.edu	37	1	245912935	245912935	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr1:245912935C>T	ENST00000388985.4	-	12	1216	c.1217G>A	c.(1216-1218)aGa>aAa	p.R406K	SMYD3_ENST00000541742.1_Missense_Mutation_p.R347K|SMYD3_ENST00000490107.1_Missense_Mutation_p.R347K|SMYD3_ENST00000366517.1_5'UTR			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	406					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GCTGTGTTCTCTGCCATGTGT	0.458																																						dbGAP											0													135.0	111.0	119.0					1																	245912935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.1217G>A	1.37:g.245912935C>T	ENSP00000373637:p.Arg406Lys		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.R406K	ENST00000388985.4	37	c.1217	CCDS53486.1	1	.	.	.	.	.	.	.	.	.	.	C	7.625	0.677612	0.14841	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985	T;T;T	0.20069	2.1;2.1;2.1	5.41	5.41	0.78517	.	0.477693	0.22071	N	0.065021	T	0.09992	0.0245	N	0.11064	0.09	0.35260	D	0.779465	B	0.21452	0.056	B	0.15870	0.014	T	0.08269	-1.0730	10	0.02654	T	1	-0.1132	13.1562	0.59518	0.0:0.7903:0.2097:0.0	.	406	Q9H7B4	SMYD3_HUMAN	K	347;347;236;406	ENSP00000444184:R347K;ENSP00000419184:R347K;ENSP00000373637:R406K	ENSP00000373637:R406K	R	-	2	0	SMYD3	243979558	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	2.533000	0.45667	2.538000	0.85594	0.563000	0.77884	AGA	SMYD3	-	NULL	ENSG00000185420		0.458	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD3	HGNC	protein_coding		90	0.00	0	C	NM_022743		245912935	245912935	-1	no_errors	ENST00000388985	ensembl	human	known	69_37n	missense	463	15.05	82	SNP	1.000	T
TPP1	1200	genome.wustl.edu	37	11	6638532	6638532	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr11:6638532C>T	ENST00000533371.1	-	0	577				RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_Splice_Site_p.V170M|TPP1_ENST00000534644.1_5'UTR			P49638	TTPA_HUMAN	tripeptidyl peptidase I						embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TAGGTGTTACCAAAGTCCACA	0.557																																						dbGAP											0													68.0	69.0	69.0					11																	6638532		2201	4296	6497	-	-	-			0			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404		11.37:g.6638532C>T			Q71V64	Missense_Mutation	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.V170M	ENST00000533371.1	37	c.508		11	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689563	0.68271	.	.	ENSG00000166340	ENST00000299427	T	0.74526	-0.85	4.86	4.86	0.63082	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.127443	0.51477	D	0.000086	D	0.88872	0.6555	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91383	0.5129	10	0.87932	D	0	-20.979	16.7313	0.85435	0.0:1.0:0.0:0.0	.	170	O14773	TPP1_HUMAN	M	170	ENSP00000299427:V170M	ENSP00000299427:V170M	V	-	1	0	TPP1	6595108	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.192000	0.58378	2.513000	0.84729	0.557000	0.71058	GTG	TPP1	-	pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	ENSG00000166340		0.557	TPP1-003	NOVEL	basic	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000384527.1	63	0.00	0	C			6638532	6638532	-1	no_errors	ENST00000299427	ensembl	human	known	69_37n	missense	76	40.16	51	SNP	1.000	T
UBAP1L	390595	genome.wustl.edu	37	15	65392012	65392013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr15:65392012_65392013insC	ENST00000559089.1	-	4	959_960	c.739_740insG	c.(739-741)gcafs	p.A247fs	UBAP1L_ENST00000502113.2_Frame_Shift_Ins_p.A247fs			F5GYI3	UBA1L_HUMAN	ubiquitin associated protein 1-like	247	Pro-rich.									breast(1)|endometrium(1)|kidney(1)	3						AGGTTGGGGTGCCCCCCCAAGA	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS53948.1	15q22.31	2011-08-15			ENSG00000246922	ENSG00000246922			40028	protein-coding gene	gene with protein product							Standard	NM_001163692		Approved		uc010uit.2	F5GYI3		ENST00000559089.1:c.740dupG	15.37:g.65392019_65392019dupC	ENSP00000454012:p.Ala247fs			Frame_Shift_Ins	INS	superfamily_UBA-like	p.A247fs	ENST00000559089.1	37	c.740_739	CCDS53948.1	15																																																																																			UBAP1L	-	superfamily_UBA-like	ENSG00000246922		0.589	UBAP1L-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAP1L	HGNC	protein_coding	OTTHUMT00000418469.1	14	0.00	0	-	NM_001163692		65392012	65392013	-1	no_errors	ENST00000502113	ensembl	human	known	69_37n	frame_shift_ins	17	19.05	4	INS	0.006:0.000	C
XIRP2	129446	genome.wustl.edu	37	2	168115850	168115850	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr2:168115850A>T	ENST00000409728.1	+	11	2982	c.2893A>T	c.(2893-2895)Agg>Tgg	p.R965W	XIRP2_ENST00000409756.2_Missense_Mutation_p.R932W|XIRP2_ENST00000409605.1_Missense_Mutation_p.R710W|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.R965W|XIRP2_ENST00000409043.1_Missense_Mutation_p.R932W|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAAGAAACAGGTGCTACAG	0.413																																						dbGAP											0													51.0	48.0	49.0					2																	168115850		1944	4146	6090	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2893A>T	2.37:g.168115850A>T	ENSP00000386619:p.Arg965Trp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R965W	ENST00000409728.1	37	c.2893	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931552	0.73442	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	D;D;D;D;D	0.85171	-1.86;-1.85;-1.86;-1.85;-1.95	5.48	4.3	0.51218	.	.	.	.	.	D	0.90817	0.7116	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89814	0.3984	8	0.87932	D	0	.	6.769	0.23583	0.6332:0.2927:0.0742:0.0	.	932;965	A4UGR9-4;A4UGR9-6	.;.	W	932;965;932;965;710	ENSP00000386454:R932W;ENSP00000386619:R965W;ENSP00000386724:R932W;ENSP00000415541:R965W;ENSP00000386981:R710W	ENSP00000386454:R932W	R	+	1	2	XIRP2	167824096	0.990000	0.36364	0.991000	0.47740	0.968000	0.65278	1.120000	0.31271	0.881000	0.35993	0.528000	0.53228	AGG	XIRP2	-	NULL	ENSG00000163092		0.413	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	38	0.00	0	A	NM_152381		168115850	168115850	+1	no_errors	ENST00000420519	ensembl	human	known	69_37n	missense	44	46.34	38	SNP	0.989	T
ZNF70	7621	genome.wustl.edu	37	22	24086804	24086804	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr22:24086804T>C	ENST00000341976.3	-	2	984	c.524A>G	c.(523-525)aAg>aGg	p.K175R		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GCTGAAGGCCTTCCCGCACTC	0.632																																						dbGAP											0													83.0	71.0	75.0					22																	24086804		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.524A>G	22.37:g.24086804T>C	ENSP00000339314:p.Lys175Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K175R	ENST00000341976.3	37	c.524	CCDS13812.1	22	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998874	0.54147	.	.	ENSG00000187792	ENST00000341976	T	0.07688	3.17	3.49	2.45	0.29901	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11239	0.0274	M	0.68593	2.085	0.28793	N	0.899226	B	0.24963	0.115	B	0.28232	0.087	T	0.11518	-1.0584	9	0.62326	D	0.03	-25.9049	7.1243	0.25463	0.0:0.1138:0.0:0.8862	.	175	Q9UC06	ZNF70_HUMAN	R	175	ENSP00000339314:K175R	ENSP00000339314:K175R	K	-	2	0	ZNF70	22416804	1.000000	0.71417	0.974000	0.42286	0.466000	0.32739	5.661000	0.68025	0.722000	0.32252	0.456000	0.33151	AAG	ZNF70	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187792		0.632	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	318	0.00	0	T	NM_021916		24086804	24086804	-1	no_errors	ENST00000341976	ensembl	human	known	69_37n	missense	332	33.60	168	SNP	1.000	C
ZMAT5	55954	genome.wustl.edu	37	22	30136653	30136653	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EM-01A-11W-A050-09	TCGA-A2-A0EM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0e01c6b8-9edd-4965-b247-ee7e68124f48	475ab163-650e-4139-b373-13cebd7a3f7d	g.chr22:30136653C>A	ENST00000344318.3	-	4	373	c.257G>T	c.(256-258)aGc>aTc	p.S86I	ZMAT5_ENST00000397781.3_Missense_Mutation_p.S86I	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	86					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CACCTGGATGCTCAGCTCCTG	0.622																																						dbGAP											0													100.0	67.0	78.0					22																	30136653		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.257G>T	22.37:g.30136653C>A	ENSP00000344241:p.Ser86Ile		A8K9F6	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_U1-C,smart_Znf_CCCH	p.S86I	ENST00000344318.3	37	c.257	CCDS13868.1	22	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941659	0.34283	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	4.88	3.81	0.43845	.	0.476275	0.26696	N	0.022979	T	0.39358	0.1075	L	0.44542	1.39	0.30899	N	0.729535	B	0.28128	0.201	B	0.24541	0.054	T	0.49041	-0.8980	9	0.48119	T	0.1	-14.5398	13.5493	0.61723	0.0:0.8299:0.1701:0.0	.	86	Q9UDW3	ZMAT5_HUMAN	I	86	.	ENSP00000344241:S86I	S	-	2	0	ZMAT5	28466653	0.863000	0.29885	0.994000	0.49952	0.963000	0.63663	1.548000	0.36201	2.527000	0.85204	0.655000	0.94253	AGC	ZMAT5	-	NULL	ENSG00000100319		0.622	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT5	HGNC	protein_coding	OTTHUMT00000322114.1	92	0.00	0	C	NM_019103		30136653	30136653	-1	no_errors	ENST00000344318	ensembl	human	known	69_37n	missense	93	16.96	19	SNP	0.617	A
