#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
ACTN2	88	genome.wustl.edu	37	1	236908040	236908040	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr1:236908040G>A	ENST00000366578.4	+	12	1536	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R457H|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	457					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CACCAGGACCGCGTGGAGCAG	0.642																																						dbGAP											0													60.0	52.0	55.0					1																	236908040		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1370G>A	1.37:g.236908040G>A	ENSP00000355537:p.Arg457His		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.R457H	ENST00000366578.4	37	c.1370	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.828940	0.96996	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.55052	0.54;0.54	5.17	5.17	0.71159	.	0.045259	0.85682	D	0.000000	T	0.79545	0.4464	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.989;1.0;0.997	D	0.84430	0.0576	10	0.87932	D	0	.	19.0257	0.92931	0.0:0.0:1.0:0.0	.	242;457;227;457	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	H	457;457;226	ENSP00000443495:R457H;ENSP00000355537:R457H	ENSP00000355537:R457H	R	+	2	0	ACTN2	234974663	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	9.844000	0.99494	2.546000	0.85860	0.563000	0.77884	CGC	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.642	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	31	0.00	0	G	NM_001103		236908040	236908040	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	A
ALG12	79087	genome.wustl.edu	37	22	50304162	50304162	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr22:50304162A>T	ENST00000330817.6	-	4	662	c.389T>A	c.(388-390)tTc>tAc	p.F130Y		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	130					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CACCCAGCAGAACATGGTGGC	0.577																																						dbGAP											0													119.0	102.0	108.0					22																	50304162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.389T>A	22.37:g.50304162A>T	ENSP00000333813:p.Phe130Tyr		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.F130Y	ENST00000330817.6	37	c.389	CCDS14081.1	22	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513713	0.85389	.	.	ENSG00000182858	ENST00000330817	D	0.85629	-2.01	4.7	4.7	0.59300	.	0.098333	0.64402	D	0.000001	D	0.86247	0.5887	L	0.49513	1.565	0.58432	D	0.999995	B	0.30664	0.289	P	0.45712	0.491	T	0.82703	-0.0326	10	0.23891	T	0.37	-18.1565	14.2185	0.65809	1.0:0.0:0.0:0.0	.	130	Q9BV10	ALG12_HUMAN	Y	130	ENSP00000333813:F130Y	ENSP00000333813:F130Y	F	-	2	0	ALG12	48690166	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.125000	0.94402	1.773000	0.52216	0.456000	0.33151	TTC	ALG12	-	pfam_GPI_mannosylTrfase	ENSG00000182858		0.577	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2	28	0.00	0	A	NM_024105		50304162	50304162	-1	no_errors	ENST00000330817	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	T
COLQ	8292	genome.wustl.edu	37	3	15531117	15531117	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr3:15531117C>T	ENST00000383788.5	-	2	259	c.134G>A	c.(133-135)cGt>cAt	p.R45H	COLQ_ENST00000603808.1_Missense_Mutation_p.R45H|COLQ_ENST00000383787.2_Missense_Mutation_p.R45H|COLQ_ENST00000383786.5_Missense_Mutation_p.R45H|COLQ_ENST00000435459.2_Missense_Mutation_p.R35H|COLQ_ENST00000383781.4_Missense_Mutation_p.R35H|COLQ_ENST00000383785.2_Missense_Mutation_p.R45H	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	45					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GTGGCCACCACGCTTCTTCTG	0.597																																						dbGAP											0													89.0	70.0	76.0					3																	15531117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.134G>A	3.37:g.15531117C>T	ENSP00000373298:p.Arg45His		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.R45H	ENST00000383788.5	37	c.134	CCDS33709.1	3	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587036	0.46110	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D;D	0.91996	-2.73;-2.94;-2.89;-2.95;-2.85;-2.89	5.31	5.31	0.75309	.	0.051272	0.85682	D	0.000000	D	0.95017	0.8387	M	0.62723	1.935	0.40600	D	0.981571	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.994;0.997;0.987;0.994	D	0.95437	0.8522	10	0.66056	D	0.02	-10.218	14.4789	0.67567	0.0:1.0:0.0:0.0	.	45;45;45;35	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	H	45;35;35;45;45;35;45;45;22	ENSP00000373297:R45H;ENSP00000373291:R35H;ENSP00000402511:R35H;ENSP00000373295:R45H;ENSP00000373298:R45H;ENSP00000373296:R45H	ENSP00000373291:R35H	R	-	2	0	COLQ	15506121	0.981000	0.34729	0.944000	0.38274	0.989000	0.77384	2.682000	0.46934	2.491000	0.84063	0.561000	0.74099	CGT	COLQ	-	NULL	ENSG00000206561		0.597	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	78	0.00	0	C	NM_005677		15531117	15531117	-1	no_errors	ENST00000383788	ensembl	human	known	69_37n	missense	54	20.59	14	SNP	0.961	T
DSG3	1830	genome.wustl.edu	37	18	29055684	29055684	+	Missense_Mutation	SNP	G	G	T	rs148716637		TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr18:29055684G>T	ENST00000257189.4	+	16	2544	c.2461G>T	c.(2461-2463)Gca>Tca	p.A821S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	821					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGAAGGCGCAGATGCCAC	0.468																																						dbGAP											0													127.0	120.0	123.0					18																	29055684		2203	4300	6503	-	-	-	SO:0001583	missense	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2461G>T	18.37:g.29055684G>T	ENSP00000257189:p.Ala821Ser		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.A821S	ENST00000257189.4	37	c.2461	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	0.678	-0.799229	0.02841	.	.	ENSG00000134757	ENST00000257189	T	0.76186	-1.0	5.78	-11.6	0.00059	Cadherin, cytoplasmic domain (1);	1.763180	0.03299	N	0.188674	T	0.49457	0.1558	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.27262	0.078	T	0.41963	-0.9479	10	0.10636	T	0.68	.	12.4931	0.55912	0.5937:0.2664:0.1399:0.0	.	821	P32926	DSG3_HUMAN	S	821	ENSP00000257189:A821S	ENSP00000257189:A821S	A	+	1	0	DSG3	27309682	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.514000	0.02254	-3.158000	0.00228	-0.844000	0.03045	GCA	DSG3	-	pfam_Cadherin_cytoplasmic-dom,prints_Desmoglein	ENSG00000134757		0.468	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	91	0.00	0	G	NM_001944		29055684	29055684	+1	no_errors	ENST00000257189	ensembl	human	known	69_37n	missense	73	35.96	41	SNP	0.000	T
FBXO11	80204	genome.wustl.edu	37	2	48049368	48049368	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr2:48049368T>C	ENST00000403359.3	-	13	1763	c.1691A>G	c.(1690-1692)aAt>aGt	p.N564S	FBXO11_ENST00000316377.4_Missense_Mutation_p.N480S|FBXO11_ENST00000402508.1_Missense_Mutation_p.N480S|FBXO11_ENST00000434523.2_Missense_Mutation_p.M20V	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	564					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAAATGTCATTTCCTTCAAT	0.303			"""Mis, F, D"""		DLBCL																																	dbGAP		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											75.0	74.0	74.0					2																	48049368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1691A>G	2.37:g.48049368T>C	ENSP00000384823:p.Asn564Ser		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.N564S	ENST00000403359.3	37	c.1691	CCDS54357.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.459977|4.459977	0.84317|0.84317	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000434523|ENST00000402508;ENST00000403359;ENST00000316377	.|D;D;D	.|0.85484	.|-1.99;-1.99;-1.99	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89301|0.89301	0.6676|0.6676	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	B|B	0.20671|0.31435	0.047|0.323	B|B	0.13407|0.32980	0.009|0.156	D|D	0.89917|0.89917	0.4056|0.4056	8|10	0.87932|0.72032	D|D	0|0.01	-2.0025|-2.0025	15.4471|15.4471	0.75238|0.75238	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	20|564	B3KUR1|Q86XK2	.|FBX11_HUMAN	V|S	20|480;564;480	.|ENSP00000385398:N480S;ENSP00000384823:N564S;ENSP00000323822:N480S	ENSP00000397359:M20V|ENSP00000323822:N480S	M|N	-|-	1|2	0|0	FBXO11|FBXO11	47902872|47902872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.966000|7.966000	0.87956|0.87956	2.039000|2.039000	0.60335|0.60335	0.533000|0.533000	0.62120|0.62120	ATG|AAT	FBXO11	-	superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000138081		0.303	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	44	0.00	0	T	NM_012167, NM_018693, NM_025133		48049368	48049368	-1	no_errors	ENST00000403359	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152285536	152285536	+	Nonsense_Mutation	SNP	G	G	T	rs145119819		TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr1:152285536G>T	ENST00000368799.1	-	3	1861	c.1826C>A	c.(1825-1827)tCg>tAg	p.S609*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	609	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGGCCCCGATGATTGTCC	0.572									Ichthyosis				T|||	1	0.000199681	0.0	0.0014	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													281.0	277.0	278.0					1																	152285536		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1826C>A	1.37:g.152285536G>T	ENSP00000357789:p.Ser609*		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S609*	ENST00000368799.1	37	c.1826	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.210045	0.95069	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.1422	0.36910	0.0:0.0:1.0:0.0	.	.	.	.	X	609	.	ENSP00000357789:S609X	S	-	2	0	FLG	150552160	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.238000	0.08977	1.573000	0.49748	0.603000	0.83216	TCG	FLG	-	pfam_Filaggrin	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	208	0.00	0	G	NM_002016		152285536	152285536	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	nonsense	181	14.55	31	SNP	0.002	T
HUWE1	10075	genome.wustl.edu	37	X	53561598	53561598	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chrX:53561598C>T	ENST00000342160.3	-	81	13167	c.12710G>A	c.(12709-12711)cGc>cAc	p.R4237H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4237H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4237	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGAAATGAGGCGCTTTGGAAT	0.453																																						dbGAP											0													128.0	106.0	114.0					X																	53561598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12710G>A	X.37:g.53561598C>T	ENSP00000340648:p.Arg4237His		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4237H	ENST00000342160.3	37	c.12710	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646719	0.47258	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.57752	0.38;0.38	5.36	5.36	0.76844	HECT (4);	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	L	0.28776	0.89	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.976;0.978	T	0.58847	-0.7564	10	0.33141	T	0.24	.	17.0821	0.86601	0.0:1.0:0.0:0.0	.	4237;4221	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	4237	ENSP00000340648:R4237H;ENSP00000262854:R4237H	ENSP00000262854:R4237H	R	-	2	0	HUWE1	53578323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.316000	0.79007	2.385000	0.81259	0.600000	0.82982	CGC	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	77	0.00	0	C	XM_497119		53561598	53561598	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	1.000	T
JTB	10899	genome.wustl.edu	37	1	153949711	153949712	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr1:153949711_153949712delCC	ENST00000271843.4	-	1	452_453	c.17_18delGG	c.(16-18)gggfs	p.G6fs	RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000471173.1_5'UTR|JTB_ENST00000356648.1_5'UTR|JTB_ENST00000368589.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	6					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCAGGCCTCCCGGCACCCGC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.17_18delGG	1.37:g.153949711_153949712delCC	ENSP00000271843:p.Gly6fs		O95442|Q6IB19|Q9P0Q4	Frame_Shift_Del	DEL	pfam_JTB	p.G6fs	ENST00000271843.4	37	c.18_17	CCDS1057.1	1																																																																																			JTB	-	NULL	ENSG00000143543		0.639	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JTB	HGNC	protein_coding	OTTHUMT00000088996.1	23	0.00	0	CC	NM_006694		153949711	153949712	-1	no_errors	ENST00000271843	ensembl	human	known	69_37n	frame_shift_del	13	35.00	7	DEL	0.997:0.986	-
LAG3	3902	genome.wustl.edu	37	12	6882468	6882468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr12:6882468C>T	ENST00000203629.2	+	2	502	c.169C>T	c.(169-171)Cga>Tga	p.R57*	LAG3_ENST00000441671.2_Nonsense_Mutation_p.R57*	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	57	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGCCTTCTGCGAAGAGCAGG	0.657																																						dbGAP											0													50.0	47.0	48.0					12																	6882468		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.169C>T	12.37:g.6882468C>T	ENSP00000203629:p.Arg57*		A8K7T9|Q7Z643	Nonsense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.R57*	ENST00000203629.2	37	c.169	CCDS8561.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.454442	0.97581	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	.	.	.	4.56	1.58	0.23477	.	0.197685	0.25052	N	0.033510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4771	3.5297	0.07771	0.1696:0.5689:0.1648:0.0967	.	.	.	.	X	57	.	ENSP00000203629:R57X	R	+	1	2	LAG3	6752729	0.499000	0.26083	0.062000	0.19696	0.896000	0.52359	0.930000	0.28858	0.349000	0.23975	-0.372000	0.07161	CGA	LAG3	-	smart_Ig_sub	ENSG00000089692		0.657	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAG3	HGNC	protein_coding	OTTHUMT00000402846.1	32	0.00	0	C			6882468	6882468	+1	no_errors	ENST00000203629	ensembl	human	known	69_37n	nonsense	17	29.17	7	SNP	0.003	T
MACF1	23499	genome.wustl.edu	37	1	39775287	39775287	+	Silent	SNP	G	G	A			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr1:39775287G>A	ENST00000372915.3	+	23	2937	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	MACF1_ENST00000317713.7_Silent_p.L950L|MACF1_ENST00000564288.1_Silent_p.L945L|MACF1_ENST00000361689.2_Silent_p.L950L|MACF1_ENST00000539005.1_Silent_p.L950L|MACF1_ENST00000567887.1_Silent_p.L982L|MACF1_ENST00000545844.1_Silent_p.L950L|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	950					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCATCAGCTGCATGTTAACA	0.403																																						dbGAP											0													148.0	137.0	141.0					1																	39775287		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2850G>A	1.37:g.39775287G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain	p.A1061T	ENST00000372915.3	37	c.3181		1	.	.	.	.	.	.	.	.	.	.	G	3.817	-0.038581	0.07497	.	.	ENSG00000127603	ENST00000372900;ENST00000372925	.	.	.	5.68	-2.65	0.06095	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29640	-1.0005	5	0.27785	T	0.31	.	2.7192	0.05196	0.2883:0.1104:0.4038:0.1976	.	.	.	.	T	1061;84	.	ENSP00000361991:A1061T	A	+	1	0	MACF1	39547874	0.005000	0.15991	0.978000	0.43139	0.927000	0.56198	-1.036000	0.03560	-0.421000	0.07416	-1.709000	0.00716	GCA	MACF1	-	NULL	ENSG00000127603		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	65	0.00	0	G	NM_033044		39775287	39775287	+1	no_errors	ENST00000496804	ensembl	human	known	69_37n	missense	38	43.28	29	SNP	0.645	A
KMT2C	58508	genome.wustl.edu	37	7	152012425	152012425	+	Splice_Site	SNP	T	T	G			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr7:152012425T>G	ENST00000262189.6	-	4	608		c.e4-2		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						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)										AGCTGTTCACTAGTAAAAATG	0.348																																						dbGAP											0													71.0	69.0	69.0					7																	152012425		2203	4300	6503	-	-	-	SO:0001630	splice_region_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.390-2A>C	7.37:g.152012425T>G			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	-	e4-2	ENST00000262189.6	37	c.390-2	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210249	0.79240	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9299	0.79651	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151643358	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.811000	0.75221	2.162000	0.67917	0.460000	0.39030	.	MLL3	-	-	ENSG00000055609		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	55	0.00	0	T		Intron	152012425	152012425	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	splice_site	52	26.76	19	SNP	1.000	G
NETO1	81832	genome.wustl.edu	37	18	70526127	70526127	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr18:70526127T>C	ENST00000327305.6	-	4	1060	c.403A>G	c.(403-405)Att>Gtt	p.I135V	NETO1_ENST00000583169.1_Missense_Mutation_p.I135V|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.I134V|NETO1_ENST00000397929.1_Missense_Mutation_p.I134V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	135	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAAAATTTAATCCATAGAAAT	0.353																																						dbGAP											0													65.0	69.0	68.0					18																	70526127		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.403A>G	18.37:g.70526127T>C	ENSP00000313088:p.Ile135Val		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.I135V	ENST00000327305.6	37	c.403	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595018	0.66219	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.31510	1.49;1.49;1.7	4.88	3.72	0.42706	CUB (5);	0.000000	0.64402	D	0.000019	T	0.25568	0.0622	N	0.17278	0.47	0.58432	D	0.999999	B;B;P	0.44946	0.001;0.001;0.846	B;B;P	0.47786	0.003;0.005;0.557	T	0.04400	-1.0954	10	0.72032	D	0.01	-1.792	10.5291	0.44967	0.0:0.077:0.0:0.923	.	134;134;135	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	V	135;134;134	ENSP00000313088:I135V;ENSP00000299430:I134V;ENSP00000381024:I134V	ENSP00000299430:I134V	I	-	1	0	NETO1	68677107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.943000	0.87716	0.814000	0.34374	0.533000	0.62120	ATT	NETO1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000166342		0.353	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	58	0.00	0	T	NM_138999		70526127	70526127	-1	no_errors	ENST00000327305	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	1.000	C
NOS3	4846	genome.wustl.edu	37	7	150698507	150698507	+	Silent	SNP	C	C	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr7:150698507C>T	ENST00000484524.1	+	10	1422	c.1422C>T	c.(1420-1422)cgC>cgT	p.R474R	NOS3_ENST00000297494.3_Silent_p.R474R|NOS3_ENST00000461406.1_Silent_p.R268R|NOS3_ENST00000467517.1_Silent_p.R474R	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCTTCCGCTACCAGGTGC	0.597																																						dbGAP											0													50.0	49.0	50.0					7																	150698507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1422C>T	7.37:g.150698507C>T			Q495E5	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R474	ENST00000484524.1	37	c.1422	CCDS55182.1	7																																																																																			NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000164867		0.597	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	38	0.00	0	C	NM_000603		150698507	150698507	+1	no_errors	ENST00000297494	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	1.000	T
NSD1	64324	genome.wustl.edu	37	5	176637903	176637903	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr5:176637903G>T	ENST00000439151.2	+	5	2548	c.2503G>T	c.(2503-2505)Ggt>Tgt	p.G835C	NSD1_ENST00000347982.4_Missense_Mutation_p.G566C|NSD1_ENST00000361032.4_Missense_Mutation_p.G732C|NSD1_ENST00000354179.4_Missense_Mutation_p.G566C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	835					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAAGTGGATGGTCTAAAACT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													87.0	87.0	87.0					5																	176637903		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2503G>T	5.37:g.176637903G>T	ENSP00000395929:p.Gly835Cys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.G835C	ENST00000439151.2	37	c.2503	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972962	0.53614	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95342	-3.59;-3.59;-3.59;-3.68	5.44	4.56	0.56223	.	0.098628	0.44688	D	0.000426	D	0.94348	0.8183	L	0.27053	0.805	0.36320	D	0.858183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.971;0.983;0.962	D	0.94376	0.7600	9	.	.	.	.	14.804	0.69938	0.0739:0.0:0.9261:0.0	.	566;732;835	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	566;835;566;732	ENSP00000346111:G566C;ENSP00000395929:G835C;ENSP00000343209:G566C;ENSP00000354310:G732C	.	G	+	1	0	NSD1	176570509	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.878000	0.56130	2.703000	0.92315	0.655000	0.94253	GGT	NSD1	-	NULL	ENSG00000165671		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	62	0.00	0	G	NM_172349		176637903	176637903	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	0.993	T
NUMA1	4926	genome.wustl.edu	37	11	71726685	71726685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr11:71726685G>A	ENST00000393695.3	-	15	2195	c.1864C>T	c.(1864-1866)Cag>Tag	p.Q622*	NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q622*|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGAAGTTGCTGCTGCAGAATC	0.612			T	RARA	APL																																	dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													41.0	40.0	40.0					11																	71726685		2200	4293	6493	-	-	-	SO:0001587	stop_gained	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1864C>T	11.37:g.71726685G>A	ENSP00000377298:p.Gln622*			Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q622*	ENST00000393695.3	37	c.1864	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.655514	0.97739	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	.	.	.	6.07	5.15	0.70609	.	0.379952	0.23847	N	0.043998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.7063	0.57061	0.0:0.126:0.743:0.131	.	.	.	.	X	622;622;185;622;622	.	ENSP00000351851:Q622X	Q	-	1	0	NUMA1	71404333	0.855000	0.29742	0.998000	0.56505	0.350000	0.29205	1.043000	0.30316	1.561000	0.49584	0.655000	0.94253	CAG	NUMA1	-	NULL	ENSG00000137497		0.612	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	46	0.00	0	G			71726685	71726685	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	nonsense	33	19.51	8	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	47	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	1.000	G
PLA2G1B	5319	genome.wustl.edu	37	12	120760099	120760099	+	Missense_Mutation	SNP	G	G	T	rs149400012	byFrequency	TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr12:120760099G>T	ENST00000308366.4	-	4	379	c.344C>A	c.(343-345)gCc>gAc	p.A115D	PLA2G1B_ENST00000549767.1_Missense_Mutation_p.A86D|PLA2G1B_ENST00000423423.3_3'UTR	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	115					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	GCAAATGAAGGCCTCACACTC	0.473																																					NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	dbGAP											0													223.0	197.0	206.0					12																	120760099		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.344C>A	12.37:g.120760099G>T	ENSP00000312286:p.Ala115Asp		B2R4H5|Q3KPI1	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.A115D	ENST00000308366.4	37	c.344	CCDS9195.1	12	.	.	.	.	.	.	.	.	.	.	G	6.099	0.386535	0.11524	.	.	ENSG00000170890	ENST00000308366;ENST00000549767	T;T	0.27402	1.67;1.67	5.51	0.0691	0.14372	Phospholipase A2 (3);	0.361870	0.31461	N	0.007607	T	0.17577	0.0422	L	0.45137	1.4	0.09310	N	1	B	0.21753	0.06	B	0.19666	0.026	T	0.20706	-1.0267	10	0.15499	T	0.54	-8.6297	2.399	0.04397	0.1236:0.2138:0.339:0.3236	.	115	P04054	PA21B_HUMAN	D	115;86	ENSP00000312286:A115D;ENSP00000447233:A86D	ENSP00000312286:A115D	A	-	2	0	PLA2G1B	119244482	0.006000	0.16342	0.061000	0.19648	0.304000	0.27724	0.133000	0.15912	-0.286000	0.09076	-0.302000	0.09304	GCC	PLA2G1B	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	ENSG00000170890		0.473	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G1B	HGNC	protein_coding	OTTHUMT00000403626.1	108	0.00	0	G			120760099	120760099	-1	no_errors	ENST00000308366	ensembl	human	known	69_37n	missense	61	38.38	38	SNP	0.017	T
PLCE1	51196	genome.wustl.edu	37	10	96018782	96018782	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr10:96018782G>A	ENST00000371380.3	+	12	3924	c.3689G>A	c.(3688-3690)cGc>cAc	p.R1230H	PLCE1_ENST00000260766.3_Missense_Mutation_p.R1230H|PLCE1_ENST00000371375.1_Missense_Mutation_p.R922H|PLCE1_ENST00000371385.3_Missense_Mutation_p.R922H			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1230				SR -> QA (in Ref. 8; AAF22005). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTCAGGAGCCGCAAGGACCTG	0.468																																						dbGAP											0													126.0	121.0	122.0					10																	96018782		1963	4152	6115	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3689G>A	10.37:g.96018782G>A	ENSP00000360431:p.Arg1230His		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R1230H	ENST00000371380.3	37	c.3689	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.563168	0.96527	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.62723	1.935	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.76586	-0.2905	10	0.87932	D	0	.	19.9785	0.97317	0.0:0.0:1.0:0.0	.	1214;922;1230	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	H	1230;1230;922;922	ENSP00000260766:R1230H;ENSP00000360431:R1230H;ENSP00000360438:R922H;ENSP00000360426:R922H	ENSP00000260766:R1230H	R	+	2	0	PLCE1	96008772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.827000	0.99397	2.729000	0.93468	0.555000	0.69702	CGC	PLCE1	-	NULL	ENSG00000138193		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	89	0.00	0	G	NM_016341		96018782	96018782	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	75	19.15	18	SNP	1.000	A
PTGDR	5729	genome.wustl.edu	37	14	52735144	52735144	+	Silent	SNP	C	C	T	rs534619539		TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr14:52735144C>T	ENST00000306051.2	+	1	714	c.612C>T	c.(610-612)tcC>tcT	p.S204S	PTGDR_ENST00000553372.1_Silent_p.S204S	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	204					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCTCTACTCCAGCCTCATGG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17963	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													88.0	73.0	78.0					14																	52735144		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.612C>T	14.37:g.52735144C>T			G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.S204	ENST00000306051.2	37	c.612	CCDS9707.1	14																																																																																			PTGDR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000168229		0.657	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	46	0.00	0	C	NM_000953		52735144	52735144	+1	no_errors	ENST00000306051	ensembl	human	known	69_37n	silent	18	45.45	15	SNP	1.000	T
R3HDML	140902	genome.wustl.edu	37	20	42965927	42965927	+	Silent	SNP	C	C	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr20:42965927C>T	ENST00000217043.2	+	1	302	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	44						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TATGCGGCTCCTGAGTGGCCT	0.617																																						dbGAP											0													49.0	48.0	48.0					20																	42965927		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.130C>T	20.37:g.42965927C>T				Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.L44	ENST00000217043.2	37	c.130	CCDS13329.1	20																																																																																			R3HDML	-	NULL	ENSG00000101074		0.617	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	R3HDML	HGNC	protein_coding	OTTHUMT00000079344.1	22	0.00	0	C	NM_178491		42965927	42965927	+1	no_errors	ENST00000217043	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.000	T
SCN3A	6328	genome.wustl.edu	37	2	165947251	165947251	+	Silent	SNP	C	C	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr2:165947251C>T	ENST00000360093.3	-	28	5903	c.5412G>A	c.(5410-5412)gcG>gcA	p.A1804A	SCN3A_ENST00000283254.7_Silent_p.A1804A|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Silent_p.A287A|SCN3A_ENST00000409101.3_Silent_p.A1755A|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1804					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAACTGGGTCGCATCGGGAT	0.458																																						dbGAP											0													113.0	116.0	115.0					2																	165947251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5412G>A	2.37:g.165947251C>T			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.A1804	ENST00000360093.3	37	c.5412		2																																																																																			SCN3A	-	NULL	ENSG00000153253		0.458	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		136	0.00	0	C	NM_006922		165947251	165947251	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	silent	86	25.22	29	SNP	0.046	T
SRP68	6730	genome.wustl.edu	37	17	74041393	74041393	+	Silent	SNP	A	A	T			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr17:74041393A>T	ENST00000307877.2	-	12	1535	c.1374T>A	c.(1372-1374)acT>acA	p.T458T	SRP68_ENST00000539137.1_Silent_p.T420T|SRP68_ENST00000355113.5_Silent_p.T357T|SRP68_ENST00000602720.1_Silent_p.T119T|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	458					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGAACACCAGAGTCTTGAGGC	0.493																																						dbGAP											0													97.0	87.0	90.0					17																	74041393		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1374T>A	17.37:g.74041393A>T			B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	NULL	p.T458	ENST00000307877.2	37	c.1374	CCDS11738.1	17																																																																																			SRP68	-	NULL	ENSG00000167881		0.493	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	66	0.00	0	A	NM_014230		74041393	74041393	-1	no_errors	ENST00000307877	ensembl	human	known	69_37n	silent	52	29.33	22	SNP	0.106	T
UBA1	7317	genome.wustl.edu	37	X	47073947	47073947	+	Silent	SNP	A	A	G			TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chrX:47073947A>G	ENST00000335972.6	+	25	3135	c.2952A>G	c.(2950-2952)aaA>aaG	p.K984K	UBA1_ENST00000377351.4_Silent_p.K984K|UBA1_ENST00000377269.3_Silent_p.K432K	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	984					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAGCACAAATTAGAGATCA	0.582																																						dbGAP											0													124.0	73.0	90.0					X																	47073947		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2952A>G	X.37:g.47073947A>G			Q5JRR8|Q96E13	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.K984	ENST00000335972.6	37	c.2952	CCDS14275.1	X																																																																																			UBA1	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.582	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	86	0.00	0	A	NM_003334		47073947	47073947	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	silent	40	28.57	16	SNP	1.000	G
ZNF595	152687	genome.wustl.edu	37	4	86041	86042	+	3'UTR	DEL	AA	AA	-	rs386670358|rs17857099		TCGA-D8-A27P-01A-11D-A16D-09	TCGA-D8-A27P-10A-01D-A16D-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94011b46-74e3-41c1-a3f6-6db1821d1778	8278fd29-aaf7-4be5-a235-84073f745cad	g.chr4:86041_86042delAA	ENST00000339368.6	+	0	850_851							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CAATCCACTGAATGAACATAAG	0.401																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*848AA>-	4.37:g.86041_86042delAA				RNA	DEL	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.401	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	8	0.00	0	AA	NM_182524		86041	86042	+1	no_errors	ENST00000339368	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.005:0.000	-
