#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
ANXA11	311	genome.wustl.edu	37	10	81923292	81923292	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr10:81923292G>C	ENST00000438331.1	-	11	1509	c.1027C>G	c.(1027-1029)Cag>Gag	p.Q343E	ANXA11_ENST00000372231.3_Missense_Mutation_p.Q343E|ANXA11_ENST00000265447.4_Missense_Mutation_p.Q343E|ANXA11_ENST00000360615.4_Missense_Mutation_p.Q343E|ANXA11_ENST00000535999.1_Missense_Mutation_p.Q343E|ANXA11_ENST00000537102.1_Missense_Mutation_p.Q310E|ANXA11_ENST00000422982.3_Missense_Mutation_p.Q343E	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	343					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			AAAAGTACCTGAGAGAGAGAG	0.532																																						dbGAP											0													41.0	44.0	43.0					10																	81923292		2202	4298	6500	-	-	-	SO:0001583	missense	0			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1027C>G	10.37:g.81923292G>C	ENSP00000398610:p.Gln343Glu		B4DVE7	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.Q343E	ENST00000438331.1	37	c.1027	CCDS7364.1	10	.	.	.	.	.	.	.	.	.	.	.	28.9	4.956170	0.92726	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56;3.56;3.56	5.31	5.31	0.75309	.	0.110907	0.64402	D	0.000006	T	0.15392	0.0371	M	0.66506	2.035	0.80722	D	1	P;D;D	0.60575	0.942;0.988;0.988	B;P;P	0.54590	0.439;0.756;0.756	T	0.00053	-1.2185	10	0.66056	D	0.02	.	16.8458	0.85980	0.0:0.0:1.0:0.0	.	443;343;343	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	E	343;343;343;343;343;343;343;250;310	ENSP00000361305:Q343E;ENSP00000404412:Q343E;ENSP00000398610:Q343E;ENSP00000353827:Q343E;ENSP00000265447:Q343E;ENSP00000441748:Q343E;ENSP00000441400:Q310E	ENSP00000265447:Q343E	Q	-	1	0	ANXA11	81913272	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.347000	0.79356	2.665000	0.90641	0.655000	0.94253	CAG	ANXA11	-	superfamily_Annexin	ENSG00000122359		0.532	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	163	0.00	0	G	NM_145869		81923292	81923292	-1	no_errors	ENST00000265447	ensembl	human	known	69_37n	missense	147	21.39	40	SNP	1.000	C
AP4M1	9179	genome.wustl.edu	37	7	99702544	99702547	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	CTTC	CTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr7:99702544_99702547delCTTC	ENST00000359593.4	+	8	812_815	c.654_657delCTTC	c.(652-657)agcttcfs	p.SF218fs	AP4M1_ENST00000422582.1_Frame_Shift_Del_p.SF90fs|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Frame_Shift_Del_p.SF225fs|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000421755.1_Frame_Shift_Del_p.SF218fs	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	218	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCTCAAGAGCTTCCTTCCTAGCG	0.534																																					Pancreas(174;1182 2812 29595 49511)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.654_657delCTTC	7.37:g.99702548_99702551delCTTC	ENSP00000352603:p.Ser218fs		D6W5U1|Q8WV65|Q9UHK9	Frame_Shift_Del	DEL	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.P221fs	ENST00000359593.4	37	c.654_657	CCDS5685.1	7																																																																																			AP4M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000221838		0.534	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP4M1	HGNC	protein_coding	OTTHUMT00000336772.4	214	0.00	0	CTTC	NM_004722		99702544	99702547	+1	no_errors	ENST00000359593	ensembl	human	known	69_37n	frame_shift_del	175	15.79	33	DEL	1.000:1.000:1.000:1.000	-
APOA1	335	genome.wustl.edu	37	11	116706641	116706641	+	Silent	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr11:116706641C>T	ENST00000236850.4	-	4	1052	c.687G>A	c.(685-687)gaG>gaA	p.E229E	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375329.2_Silent_p.E207E|APOA1_ENST00000375323.1_Silent_p.E229E|APOA1_ENST00000375320.1_Silent_p.E229E|APOA1_ENST00000359492.2_Silent_p.E229E	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	229	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTTGGCCTTCTCGCTGAGCG	0.657																																						dbGAP											0													38.0	40.0	40.0					11																	116706641		2198	4287	6485	-	-	-	SO:0001819	synonymous_variant	0			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.687G>A	11.37:g.116706641C>T			A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Silent	SNP	pfam_ApoA1_A4_E	p.E229	ENST00000236850.4	37	c.687	CCDS8378.1	11																																																																																			APOA1	-	pfam_ApoA1_A4_E	ENSG00000118137		0.657	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1	HGNC	protein_coding	OTTHUMT00000106281.2	28	0.00	0	C	NM_000039		116706641	116706641	-1	no_errors	ENST00000236850	ensembl	human	known	69_37n	silent	23	17.86	5	SNP	1.000	T
ATPAF1	64756	genome.wustl.edu	37	1	47130954	47130954	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr1:47130954C>T	ENST00000371937.4	-	2	453	c.349G>A	c.(349-351)Gat>Aat	p.D117N	ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000329231.4_Missense_Mutation_p.D140N|ATPAF1_ENST00000576409.1_Missense_Mutation_p.D140N|ATPAF1_ENST00000532925.1_Missense_Mutation_p.D29N|EFCAB14_ENST00000544071.1_Silent_p.V401V|ATPAF1_ENST00000574428.1_Missense_Mutation_p.D117N	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	117					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TTGATAAAATCACCTTGCCTG	0.502																																					Melanoma(138;107 1777 21672 30337 52312)	dbGAP											0													105.0	109.0	107.0					1																	47130954		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.349G>A	1.37:g.47130954C>T	ENSP00000361005:p.Asp117Asn		B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	pfam_ATP11	p.D140N	ENST00000371937.4	37	c.418		1	.	.	.	.	.	.	.	.	.	.	C	32	5.105429	0.94245	.	.	ENSG00000123472	ENST00000371937;ENST00000526821;ENST00000329231;ENST00000532925	T	0.45668	0.89	5.89	5.89	0.94794	.	0.051413	0.85682	D	0.000000	T	0.54886	0.1886	L	0.36672	1.1	0.80722	D	1	P;D;D	0.64830	0.801;0.994;0.984	P;D;P	0.66716	0.516;0.946;0.834	T	0.51301	-0.8723	10	0.51188	T	0.08	-17.3629	17.1676	0.86821	0.0:1.0:0.0:0.0	.	29;117;117	B7Z7I6;A8MRA7;Q5TC12	.;.;ATPF1_HUMAN	N	117;31;117;29	ENSP00000361005:D117N	ENSP00000330685:D117N	D	-	1	0	ATPAF1	46903541	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.331000	0.59273	2.788000	0.95919	0.585000	0.79938	GAT	ATPAF1	-	pfam_ATP11	ENSG00000123472		0.502	ATPAF1-201	KNOWN	basic	protein_coding	ATPAF1	HGNC	protein_coding		186	0.00	0	C	NM_022745		47130954	47130954	-1	no_errors	ENST00000576409	ensembl	human	known	69_37n	missense	154	10.47	18	SNP	1.000	T
BEND2	139105	genome.wustl.edu	37	X	18195777	18195777	+	Silent	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chrX:18195777G>A	ENST00000380033.4	-	10	1674	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	BEND2_ENST00000380030.3_Silent_p.F423F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	514	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCCTTGGAGAACAAAATAC	0.423																																						dbGAP											0													266.0	251.0	256.0					X																	18195777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1542C>T	X.37:g.18195777G>A			E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	pfam_BEN_domain	p.F514	ENST00000380033.4	37	c.1542	CCDS14184.1	X																																																																																			BEND2	-	pfam_BEN_domain	ENSG00000177324		0.423	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	486	0.20	1	G	NM_153346		18195777	18195777	-1	no_errors	ENST00000380033	ensembl	human	known	69_37n	silent	385	22.22	110	SNP	0.998	A
C4A	720	genome.wustl.edu	37	6	31962113	31962113	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr6:31962113G>C	ENST00000428956.2	+	20	2628	c.2544G>C	c.(2542-2544)caG>caC	p.Q848H	C4A_ENST00000498271.1_Missense_Mutation_p.Q848H	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	848					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GCTTTGAGCAGCTGGAGCTGC	0.617																																						dbGAP											0													11.0	20.0	18.0					6																	31962113		746	2314	3060	-	-	-	SO:0001583	missense	0			L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.2544G>C	6.37:g.31962113G>C	ENSP00000396688:p.Gln848His		A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.Q848H	ENST00000428956.2	37	c.2544	CCDS47404.1	6	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808487	0.31961	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.30448	1.53;1.53	3.04	2.15	0.27550	Alpha-2-macroglobulin (1);	0.139322	0.49305	D	0.000158	T	0.44767	0.1309	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.992	T	0.47799	-0.9089	10	0.87932	D	0	.	6.1232	0.20164	0.1522:0.0:0.8478:0.0	.	848;848	A6H8M8;P0C0L4	.;CO4A_HUMAN	H	848	ENSP00000396688:Q848H;ENSP00000420212:Q848H	ENSP00000396688:Q848H	Q	+	3	2	C4A	32070092	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	2.829000	0.48128	0.616000	0.30141	0.121000	0.15741	CAG	C4A	-	pfam_Macroglobln_a2	ENSG00000244731		0.617	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4A	HGNC	protein_coding	OTTHUMT00000076364.3	104	0.00	0	G	NM_007293		31962113	31962113	+1	no_errors	ENST00000428956	ensembl	human	known	69_37n	missense	123	12.77	18	SNP	1.000	C
MROH6	642475	genome.wustl.edu	37	8	144652216	144652216	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr8:144652216C>T	ENST00000398882.3	-	7	1319	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	MROH6_ENST00000533679.1_5'Flank|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000524906.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	355	Leu-rich.																AGGTGGTGGTCGGCATGTGCC	0.637																																						dbGAP											0													35.0	45.0	41.0					8																	144652216		2062	4190	6252	-	-	-	SO:0001583	missense	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1063G>A	8.37:g.144652216C>T	ENSP00000381857:p.Asp355Asn		A8MWB1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D355N	ENST00000398882.3	37	c.1063	CCDS47928.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.0|21.0	4.079134|4.079134	0.76528|0.76528	.|.	.|.	ENSG00000204839|ENSG00000204839	ENST00000398882|ENST00000529971	T|T	0.41400|0.31247	1.0|1.5	5.23|5.23	5.23|5.23	0.72850|0.72850	Armadillo-type fold (1);|.	0.246767|.	0.28409|.	N|.	0.015446|.	T|T	0.45115|0.45115	0.1326|0.1326	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.76494	1.0|0.999	D|P	0.87578|0.55222	0.998|0.771	T|T	0.43734|0.43734	-0.9373|-0.9373	10|9	0.16420|0.87932	T|D	0.52|0	-64.1596|-64.1596	16.2983|16.2983	0.82786|0.82786	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	355|367	A6NGR9|E9PPP7	CH073_HUMAN|.	N|Q	355|367	ENSP00000381857:D355N|ENSP00000436959:R367Q	ENSP00000381857:D355N|ENSP00000436959:R367Q	D|R	-|-	1|2	0|0	C8orf73|C8orf73	144723359|144723359	0.947000|0.947000	0.32204|0.32204	0.960000|0.960000	0.40013|0.40013	0.884000|0.884000	0.51177|0.51177	1.884000|1.884000	0.39668|0.39668	2.441000|2.441000	0.82636|0.82636	0.550000|0.550000	0.68814|0.68814	GAC|CGA	C8orf73	-	superfamily_ARM-type_fold	ENSG00000204839		0.637	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf73	HGNC	protein_coding	OTTHUMT00000382330.3	44	0.00	0	C	NM_001100878		144652216	144652216	-1	no_errors	ENST00000398882	ensembl	human	known	69_37n	missense	29	32.56	14	SNP	0.988	T
CDH1	999	genome.wustl.edu	37	16	68855935	68855936	+	Frame_Shift_Ins	INS	-	-	CTGC	rs1801025		TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr16:68855935_68855936insCTGC	ENST00000261769.5	+	12	1934_1935	c.1743_1744insCTGC	c.(1744-1746)ctgfs	p.-582fs	CDH1_ENST00000422392.2_Frame_Shift_Ins_p.-521fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGGGACACTTCTGCTGATCCT	0.455			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1744_1747dupCTGC	16.37:g.68855936_68855939dupCTGC	ENSP00000261769:p.Leu582fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L582fs	ENST00000261769.5	37	c.1743_1744	CCDS10869.1	16																																																																																			CDH1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.455	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	200	0.00	0	-	NM_004360		68855935	68855936	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	156	24.64	51	INS	0.393:0.403	CTGC
CEACAM3	1084	genome.wustl.edu	37	19	42301853	42301853	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr19:42301853G>A	ENST00000357396.3	+	2	638	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.E133K|CEACAM3_ENST00000221999.4_Missense_Mutation_p.E133K	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	133	Ig-like V-type.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TGTGAATGAAGAAGCAACTGG	0.458																																						dbGAP											0													250.0	256.0	254.0					19																	42301853		2203	4300	6503	-	-	-	SO:0001583	missense	0			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.397G>A	19.37:g.42301853G>A	ENSP00000349971:p.Glu133Lys		G5E978|Q3KPH9	Missense_Mutation	SNP	pfam_Ig_V-set	p.E133K	ENST00000357396.3	37	c.397	CCDS12586.2	19	.	.	.	.	.	.	.	.	.	.	G	5.082	0.200780	0.09652	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.66099	-0.19;-0.19;-0.19	2.91	-5.83	0.02325	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64832	0.2634	M	0.74389	2.26	0.09310	N	1	D;D	0.89917	1.0;0.965	D;D	0.74023	0.982;0.971	T	0.54997	-0.8209	9	0.02654	T	1	.	3.3469	0.07139	0.1534:0.4571:0.2722:0.1173	.	133;133	G5E978;P40198	.;CEAM3_HUMAN	K	133	ENSP00000349971:E133K;ENSP00000221999:E133K;ENSP00000341725:E133K	ENSP00000221999:E133K	E	+	1	0	CEACAM3	46993693	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-3.398000	0.00171	-0.414000	0.06135	GAA	CEACAM3	-	pfam_Ig_V-set	ENSG00000170956		0.458	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM3	HGNC	protein_coding	OTTHUMT00000316509.2	545	0.37	2	G	NM_001815		42301853	42301853	+1	no_errors	ENST00000357396	ensembl	human	known	69_37n	missense	341	21.43	93	SNP	0.000	A
CES3	23491	genome.wustl.edu	37	16	67006796	67006796	+	Silent	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr16:67006796C>T	ENST00000303334.4	+	13	1631	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	CES3_ENST00000543856.1_Silent_p.F159F|CES3_ENST00000394037.1_Silent_p.F517F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	520						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGCCCCAATTCAACCAGGCGG	0.607																																						dbGAP											0													94.0	99.0	97.0					16																	67006796		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1560C>T	16.37:g.67006796C>T			B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.F520	ENST00000303334.4	37	c.1560	CCDS10826.1	16																																																																																			CES3	-	pfam_CarbesteraseB	ENSG00000172828		0.607	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	147	0.00	0	C	NM_024922		67006796	67006796	+1	no_errors	ENST00000303334	ensembl	human	known	69_37n	silent	100	23.48	31	SNP	0.000	T
CLIP2	7461	genome.wustl.edu	37	7	73790952	73790952	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr7:73790952G>C	ENST00000395060.1	+	9	2221	c.2221G>C	c.(2221-2223)Gag>Cag	p.E741Q	CLIP2_ENST00000361545.5_Missense_Mutation_p.E706Q|CLIP2_ENST00000223398.6_Missense_Mutation_p.E741Q			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	741						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACTGGACGTGGAGTACCGGGG	0.652																																						dbGAP											0													30.0	39.0	36.0					7																	73790952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2221G>C	7.37:g.73790952G>C	ENSP00000378500:p.Glu741Gln		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.E741Q	ENST00000395060.1	37	c.2221	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096728	0.56075	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.60040	0.26;0.22;0.26	4.9	4.9	0.64082	.	0.257564	0.40302	N	0.001122	T	0.63177	0.2489	L	0.29908	0.895	0.54753	D	0.999988	D;P;P	0.76494	0.999;0.912;0.857	D;P;B	0.64144	0.922;0.603;0.399	T	0.61118	-0.7127	10	0.31617	T	0.26	-25.4327	16.6849	0.85302	0.0:0.0:1.0:0.0	.	706;706;741	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	Q	741;741;706;741	ENSP00000223398:E741Q;ENSP00000355151:E706Q;ENSP00000378500:E741Q	ENSP00000223398:E741Q	E	+	1	0	CLIP2	73428888	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.351000	0.79395	2.276000	0.75962	0.449000	0.29647	GAG	CLIP2	-	NULL	ENSG00000106665		0.652	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	58	0.00	0	G	NM_003388		73790952	73790952	+1	no_errors	ENST00000223398	ensembl	human	known	69_37n	missense	50	28.57	20	SNP	0.998	C
CNTLN	54875	genome.wustl.edu	37	9	17466866	17466866	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr9:17466866G>C	ENST00000380647.3	+	23	3916	c.3832G>C	c.(3832-3834)Gaa>Caa	p.E1278Q	CNTLN_ENST00000262360.5_Missense_Mutation_p.E1278Q|CNTLN_ENST00000425824.1_Missense_Mutation_p.E1278Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1278					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGAAAAAGTAGAAGAGTTCAC	0.398																																						dbGAP											0													128.0	118.0	121.0					9																	17466866		1886	4107	5993	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3832G>C	9.37:g.17466866G>C	ENSP00000370021:p.Glu1278Gln		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1278Q	ENST00000380647.3	37	c.3832	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716514	0.68844	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.21031	2.03;2.03;2.29	5.51	4.61	0.57282	.	.	.	.	.	T	0.45677	0.1354	M	0.74258	2.255	0.35658	D	0.81227	D;D;D	0.89917	1.0;0.992;0.992	D;P;P	0.87578	0.998;0.878;0.878	T	0.57934	-0.7725	9	0.38643	T	0.18	.	14.1575	0.65426	0.0721:0.0:0.9279:0.0	.	1278;1278;1278	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	Q	1278	ENSP00000370021:E1278Q;ENSP00000392798:E1278Q;ENSP00000262360:E1278Q	ENSP00000262360:E1278Q	E	+	1	0	CNTLN	17456866	1.000000	0.71417	0.895000	0.35142	0.935000	0.57460	4.312000	0.59154	1.318000	0.45170	0.585000	0.79938	GAA	CNTLN	-	NULL	ENSG00000044459		0.398	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	168	0.59	1	G	NM_017738		17466866	17466866	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	142	33.64	72	SNP	0.988	C
CNTNAP5	129684	genome.wustl.edu	37	2	125281897	125281897	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr2:125281897G>A	ENST00000431078.1	+	9	1706	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	448	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTGAATGATGGCCTGTGGCA	0.552																																						dbGAP											0													75.0	79.0	78.0					2																	125281897		2074	4216	6290	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1342G>A	2.37:g.125281897G>A	ENSP00000399013:p.Gly448Ser		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G448S	ENST00000431078.1	37	c.1342	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.294930	0.95546	.	.	ENSG00000155052	ENST00000431078	D	0.84146	-1.81	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000084	D	0.94364	0.8188	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94800	0.7970	10	0.87932	D	0	.	19.354	0.94404	0.0:0.0:1.0:0.0	.	448	Q8WYK1	CNTP5_HUMAN	S	448	ENSP00000399013:G448S	ENSP00000399013:G448S	G	+	1	0	CNTNAP5	124998367	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.542000	0.90647	2.820000	0.97059	0.650000	0.86243	GGC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	124	0.00	0	G			125281897	125281897	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	120	18.24	27	SNP	1.000	A
COL2A1	1280	genome.wustl.edu	37	12	48381467	48381467	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr12:48381467C>T	ENST00000380518.3	-	19	1312	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	COL2A1_ENST00000337299.6_Missense_Mutation_p.R314H|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	383	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCAGGACCACGGGCACCAGT	0.607																																						dbGAP											0													50.0	44.0	46.0					12																	48381467		2203	4300	6503	-	-	-	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1148G>A	12.37:g.48381467C>T	ENSP00000369889:p.Arg383His		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R383H	ENST00000380518.3	37	c.1148	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187784	0.78789	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94280	-3.39;-3.39	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.95733	0.8612	M	0.62209	1.925	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79784	0.988;0.993	D	0.95979	0.8976	10	0.72032	D	0.01	.	16.0882	0.81073	0.0:1.0:0.0:0.0	.	314;383	P02458-1;P02458	.;CO2A1_HUMAN	H	383;314;314	ENSP00000369889:R383H;ENSP00000338213:R314H	ENSP00000338213:R314H	R	-	2	0	COL2A1	46667734	0.967000	0.33354	0.977000	0.42913	1.000000	0.99986	2.562000	0.45914	2.529000	0.85273	0.655000	0.94253	CGT	COL2A1	-	NULL	ENSG00000139219		0.607	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	86	0.00	0	C	NM_001844		48381467	48381467	-1	no_errors	ENST00000380518	ensembl	human	known	69_37n	missense	98	16.95	20	SNP	1.000	T
CROCCP2	84809	genome.wustl.edu	37	1	16950889	16950889	+	lincRNA	SNP	G	G	A	rs12045375	byFrequency	TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr1:16950889G>A	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TTGCCCCAGCGTCTCCACCTG	0.697													.|||	1177	0.235024	0.0174	0.2738	5008	,	,		56460	0.4712		0.2495	False		,,,				2504	0.2434					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950889G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.697	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	28	0.00	0	G	NR_026752.1		16950889	16950889	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	0.470	A
CUL4B	8450	genome.wustl.edu	37	X	119691821	119691821	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chrX:119691821C>A	ENST00000404115.3	-	4	1085	c.684G>T	c.(682-684)caG>caT	p.Q228H	CUL4B_ENST00000336592.6_Missense_Mutation_p.Q215H|CUL4B_ENST00000371322.5_Missense_Mutation_p.Q210H	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	228					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGTACTATTCTGAATAGCTT	0.328																																						dbGAP											0													169.0	142.0	151.0					X																	119691821		2203	4299	6502	-	-	-	SO:0001583	missense	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.684G>T	X.37:g.119691821C>A	ENSP00000384109:p.Gln228His		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.Q228H	ENST00000404115.3	37	c.684	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824619	0.32237	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.54	3.76	0.43208	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.111769	0.64402	D	0.000006	T	0.60353	0.2262	N	0.25031	0.7	0.80722	D	1	B;B	0.22414	0.069;0.056	B;B	0.20955	0.032;0.019	T	0.51474	-0.8701	9	.	.	.	-8.0403	7.6086	0.28115	0.0:0.7386:0.0:0.2614	.	228;210	Q13620;Q13620-1	CUL4B_HUMAN;.	H	210;215;228;32	ENSP00000360373:Q210H;ENSP00000338919:Q215H;ENSP00000384109:Q228H;ENSP00000360374:Q32H	.	Q	-	3	2	CUL4B	119575849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.745000	0.38278	1.091000	0.41335	0.589000	0.80489	CAG	CUL4B	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000158290		0.328	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	638	0.31	2	C	NM_003588		119691821	119691821	-1	no_errors	ENST00000404115	ensembl	human	known	69_37n	missense	506	21.91	142	SNP	1.000	A
EXOSC10	5394	genome.wustl.edu	37	1	11147520	11147520	+	Silent	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr1:11147520G>A	ENST00000376936.4	-	9	1123	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	EXOSC10_ENST00000304457.7_Silent_p.D358D|EXOSC10_ENST00000544779.1_Silent_p.D358D	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	358					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CGATGGCTGGGTCTGTGAGGC	0.433																																					Colon(179;105 1987 14326 27364 29542)	dbGAP											0													174.0	178.0	177.0					1																	11147520		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1074C>T	1.37:g.11147520G>A			B1AKQ0|B1AKQ1|Q15158	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.D358	ENST00000376936.4	37	c.1074	CCDS30584.1	1																																																																																			EXOSC10	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000171824		0.433	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	232	0.43	1	G	NM_001001998		11147520	11147520	-1	no_errors	ENST00000376936	ensembl	human	known	69_37n	silent	163	24.42	53	SNP	1.000	A
ERO1LB	56605	genome.wustl.edu	37	1	236385305	236385305	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr1:236385305T>A	ENST00000354619.5	-	14	1329	c.1128A>T	c.(1126-1128)gaA>gaT	p.E376D		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	376					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	GTAATCGGAATTCCTCCTAGC	0.328																																						dbGAP											0													84.0	82.0	83.0					1																	236385305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1128A>T	1.37:g.236385305T>A	ENSP00000346635:p.Glu376Asp		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1	p.E376D	ENST00000354619.5	37	c.1128	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.506197	0.44558	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.47177	0.85;0.85	5.79	0.982	0.19762	.	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	N	0.16266	0.395	0.80722	D	1	B	0.21753	0.06	B	0.32928	0.155	T	0.04203	-1.0969	10	0.20046	T	0.44	-21.6933	9.2957	0.37813	0.0:0.2709:0.0:0.7291	.	376	Q86YB8	ERO1B_HUMAN	D	376;101	ENSP00000346635:E376D;ENSP00000264181:E101D	ENSP00000264181:E101D	E	-	3	2	ERO1LB	234451928	0.985000	0.35326	1.000000	0.80357	0.996000	0.88848	0.133000	0.15912	0.128000	0.18479	0.528000	0.53228	GAA	ERO1LB	-	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1	ENSG00000086619		0.328	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	304	0.65	2	T	NM_019891		236385305	236385305	-1	no_errors	ENST00000354619	ensembl	human	known	69_37n	missense	306	21.28	83	SNP	1.000	A
FLNC	2318	genome.wustl.edu	37	7	128490064	128490064	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr7:128490064C>A	ENST00000325888.8	+	31	5495	c.5234C>A	c.(5233-5235)tCt>tAt	p.S1745Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Intron	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1745	Hinge 1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGAGCCCTCTGAAGTGCCA	0.711																																						dbGAP											0													13.0	19.0	17.0					7																	128490064		2078	4189	6267	-	-	-	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5234C>A	7.37:g.128490064C>A	ENSP00000327145:p.Ser1745Tyr		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S1745Y	ENST00000325888.8	37	c.5234	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460744	0.26248	.	.	ENSG00000128591	ENST00000325888	D	0.85484	-1.99	5.09	3.16	0.36331	.	0.707074	0.13347	N	0.394704	T	0.71341	0.3328	N	0.08118	0	0.09310	N	0.999996	B	0.06786	0.001	B	0.01281	0.0	T	0.61662	-0.7017	10	0.45353	T	0.12	.	11.7552	0.51872	0.0:0.4785:0.5215:0.0	.	1745	Q14315	FLNC_HUMAN	Y	1745	ENSP00000327145:S1745Y	ENSP00000327145:S1745Y	S	+	2	0	FLNC	128277300	0.246000	0.23909	0.014000	0.15608	0.985000	0.73830	1.521000	0.35910	1.075000	0.40932	0.655000	0.94253	TCT	FLNC	-	NULL	ENSG00000128591		0.711	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	23	0.00	0	C			128490064	128490064	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	missense	19	25.93	7	SNP	0.025	A
FAM131B	9715	genome.wustl.edu	37	7	143057212	143057212	+	5'UTR	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr7:143057212C>T	ENST00000409408.1	-	0	1683				FAM131B_ENST00000409578.1_Missense_Mutation_p.G20D|FAM131B_ENST00000409222.3_5'UTR|FAM131B_ENST00000443739.2_Missense_Mutation_p.G20D|FAM131B_ENST00000409346.1_5'UTR			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B											breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					ATCCTTCAGGCCCTTCCAATC	0.622																																						dbGAP											0													103.0	84.0	91.0					7																	143057212		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.-26G>A	7.37:g.143057212C>T			A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NULL	p.G20D	ENST00000409408.1	37	c.59	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	C	18.82	3.706040	0.68615	.	.	ENSG00000159784	ENST00000443739;ENST00000409578	T;T	0.27890	2.26;1.64	4.73	4.73	0.59995	.	.	.	.	.	T	0.49830	0.1580	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35351	-0.9792	8	0.19147	T	0.46	.	16.2884	0.82736	0.0:1.0:0.0:0.0	.	20	Q86XD5-2	.	D	20	ENSP00000410603:G20D;ENSP00000386568:G20D	ENSP00000386568:G20D	G	-	2	0	FAM131B	142767334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.927000	0.63440	2.338000	0.79540	0.655000	0.94253	GGC	FAM131B	-	NULL	ENSG00000159784		0.622	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	HGNC	protein_coding	OTTHUMT00000328057.1	218	0.46	1	C	NM_014690		143057212	143057212	-1	no_errors	ENST00000443739	ensembl	human	known	69_37n	missense	145	27.14	54	SNP	1.000	T
GDF3	9573	genome.wustl.edu	37	12	7843251	7843251	+	Silent	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr12:7843251C>T	ENST00000329913.3	-	2	365	c.318G>A	c.(316-318)caG>caA	p.Q106Q		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	106					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAGGAGCTTCTGCAGGCAGG	0.443																																						dbGAP											0													56.0	64.0	62.0					12																	7843251		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.318G>A	12.37:g.7843251C>T			Q8NEJ4	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.Q106	ENST00000329913.3	37	c.318	CCDS8581.1	12																																																																																			GDF3	-	pfam_TGF-b_N	ENSG00000184344		0.443	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	HGNC	protein_coding	OTTHUMT00000399717.1	50	0.00	0	C			7843251	7843251	-1	no_errors	ENST00000329913	ensembl	human	known	69_37n	silent	35	34.55	19	SNP	0.963	T
GPR97	222487	genome.wustl.edu	37	16	57713121	57713121	+	Silent	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr16:57713121C>T	ENST00000333493.4	+	5	686	c.525C>T	c.(523-525)ggC>ggT	p.G175G	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Silent_p.G55G|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	175					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATGGCAGCGGCGTGTTGAACA	0.637																																						dbGAP											0													108.0	100.0	102.0					16																	57713121		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.525C>T	16.37:g.57713121C>T			Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.G175	ENST00000333493.4	37	c.525	CCDS10786.1	16																																																																																			GPR97	-	NULL	ENSG00000182885		0.637	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	175	0.57	1	C	NM_170776		57713121	57713121	+1	no_errors	ENST00000333493	ensembl	human	known	69_37n	silent	95	35.10	53	SNP	0.000	T
GRK4	2868	genome.wustl.edu	37	4	3040213	3040213	+	Silent	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr4:3040213C>T	ENST00000398052.4	+	15	1999	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Intron|GRK4_ENST00000345167.6_Silent_p.G520G|GRK4_ENST00000504933.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	552					G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAACAGAGGCTTCTTCTATA	0.373																																						dbGAP											0													101.0	109.0	106.0					4																	3040213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1656C>T	4.37:g.3040213C>T			O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.G552	ENST00000398052.4	37	c.1656	CCDS33946.1	4																																																																																			GRK4	-	NULL	ENSG00000125388		0.373	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	194	0.00	0	C	NM_005307		3040213	3040213	+1	no_errors	ENST00000398052	ensembl	human	known	69_37n	silent	205	12.39	29	SNP	1.000	T
GTF2IRD2	84163	genome.wustl.edu	37	7	74212296	74212296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr7:74212296G>A	ENST00000405086.2	-	16	1744	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	GTF2IRD2_ENST00000451013.2_Nonsense_Mutation_p.Q66*	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ggggatttctgggttggactt	0.483																																					NSCLC(40;560 1096 7501 40315 49546)	dbGAP											0													40.0	4.0	18.0					7																	74212296		1780	2898	4678	-	-	-	SO:0001587	stop_gained	0			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1555C>T	7.37:g.74212296G>A	ENSP00000385491:p.Gln519*		A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Nonsense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.Q519*	ENST00000405086.2	37	c.1555	CCDS5576.1	7	.	.	.	.	.	.	.	.	.	.	g	9.562	1.118699	0.20877	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	.	.	.	1.74	-0.299	0.12808	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-2.8752	2.7444	0.05263	0.0:0.4294:0.3413:0.2293	.	.	.	.	X	519;66	.	ENSP00000385491:Q519X	Q	-	1	0	GTF2IRD2	73850232	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	-0.080000	0.12685	-0.580000	0.04137	CAG	GTF2IRD2	-	NULL	ENSG00000196275		0.483	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	HGNC	protein_coding	OTTHUMT00000252712.3	145	0.00	0	G	NM_173537		74212296	74212296	-1	no_errors	ENST00000405086	ensembl	human	known	69_37n	nonsense	121	18.79	28	SNP	0.000	A
H2BFWT	158983	genome.wustl.edu	37	X	103268309	103268309	+	5'Flank	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chrX:103268309C>T	ENST00000217926.5	-	0	0				H2BFM_ENST00000243297.5_Missense_Mutation_p.A14V	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific							membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AACCTACCTGCGTTGAAGGTG	0.612																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120		X.37:g.103268309C>T	Exception_encountered		B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A14V	ENST00000217926.5	37	c.41	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	13.23	2.173701	0.38413	.	.	ENSG00000101812	ENST00000243297	T	0.23147	1.92	2.18	-2.32	0.06745	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33033	-0.9884	6	0.87932	D	0	.	3.5931	0.07995	0.0:0.2469:0.4887:0.2644	.	.	.	.	V	14	ENSP00000243297:A14V	ENSP00000243297:A14V	A	+	2	0	H2BFM	103154965	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.489000	0.06490	-0.607000	0.05738	-0.328000	0.08392	GCG	H2BFM	-	NULL	ENSG00000101812		0.612	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFM	HGNC	protein_coding	OTTHUMT00000057756.2	34	0.00	0	C	NM_001002916		103268309	103268309	+1	no_errors	ENST00000243297	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	0.000	T
INPP5D	3635	genome.wustl.edu	37	2	234094557	234094557	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr2:234094557G>A	ENST00000359570.5	+	23	2308	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	INPP5D_ENST00000455936.2_Missense_Mutation_p.E534K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E534K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	782					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.E782K(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GAAGTTTGGTGAGACTCTTCC	0.488																																					NSCLC(82;1215 1426 16163 20348 41018)	dbGAP											1	Substitution - Missense(1)	lung(1)											84.0	92.0	89.0					2																	234094557		1954	4134	6088	-	-	-	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2308G>A	2.37:g.234094557G>A	ENSP00000352575:p.Glu770Lys		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,prints_SH2,pfscan_SH2	p.E770K	ENST00000359570.5	37	c.2308		2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885691	0.33255	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96334	-3.88;-3.94;-3.94;-3.98;-3.98;-3.98	5.34	5.34	0.76211	.	0.488741	0.24109	N	0.041471	D	0.93145	0.7817	.	.	.	0.39212	D	0.963342	P;P	0.40144	0.646;0.704	B;B	0.32928	0.155;0.109	D	0.93309	0.6683	9	0.33141	T	0.24	.	17.3124	0.87213	0.0:0.0:1.0:0.0	.	781;782	Q92835-2;Q92835	.;SHIP1_HUMAN	K	770;534;534;403;403;403	ENSP00000352575:E770K;ENSP00000407916:E534K;ENSP00000404610:E534K;ENSP00000400151:E403K;ENSP00000397421:E403K;ENSP00000405338:E403K	ENSP00000352575:E770K	E	+	1	0	INPP5D	233759296	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	4.748000	0.62148	2.510000	0.84645	0.650000	0.86243	GAG	INPP5D	-	NULL	ENSG00000168918		0.488	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		524	0.19	1	G	NM_001017915		234094557	234094557	+1	no_errors	ENST00000359570	ensembl	human	known	69_37n	missense	443	22.74	131	SNP	0.991	A
KIF5A	3798	genome.wustl.edu	37	12	57944160	57944160	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr12:57944160G>A	ENST00000455537.2	+	1	380	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	KIF5A_ENST00000286452.5_Missense_Mutation_p.G36R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	36	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CATTTTCCAAGGGGACGACAG	0.602																																						dbGAP											0													79.0	70.0	73.0					12																	57944160		2203	4300	6503	-	-	-	SO:0001583	missense	0			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.106G>A	12.37:g.57944160G>A	ENSP00000408979:p.Gly36Arg		A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G36R	ENST00000455537.2	37	c.106	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133136	0.56828	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.73469	-0.75;-0.75	3.86	2.97	0.34412	Kinesin, motor domain (3);	0.110119	0.64402	N	0.000011	T	0.64182	0.2575	L	0.39633	1.23	0.23198	N	0.998138	B;B	0.25169	0.003;0.119	B;B	0.26864	0.002;0.074	T	0.56842	-0.7912	10	0.40728	T	0.16	.	10.9538	0.47345	0.0962:0.0:0.9038:0.0	.	36;36	B7Z2M7;Q12840	.;KIF5A_HUMAN	R	36	ENSP00000408979:G36R;ENSP00000286452:G36R	ENSP00000286452:G36R	G	+	1	0	KIF5A	56230427	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.083000	0.76859	1.220000	0.43490	0.645000	0.84053	GGG	KIF5A	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000155980		0.602	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	79	0.00	0	G	NM_004984		57944160	57944160	+1	no_errors	ENST00000455537	ensembl	human	known	69_37n	missense	62	31.11	28	SNP	1.000	A
KIFC1	3833	genome.wustl.edu	37	6	33371820	33371820	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr6:33371820G>C	ENST00000428849.2	+	6	1120	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	224					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GAGCACGCAGGAGGGCTTGGT	0.557																																						dbGAP											0													89.0	90.0	89.0					6																	33371820		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.670G>C	6.37:g.33371820G>C	ENSP00000393963:p.Glu224Gln		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E224Q	ENST00000428849.2	37	c.670	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571221	0.45798	.	.	ENSG00000237649	ENST00000428849	D	0.82081	-1.57	5.17	3.33	0.38152	.	0.529047	0.21904	N	0.067407	D	0.82788	0.5113	M	0.63843	1.955	0.43857	D	0.996456	D;D	0.76494	0.999;0.999	D;D	0.64410	0.925;0.925	T	0.82991	-0.0182	10	0.52906	T	0.07	-1.648	7.4314	0.27131	0.0917:0.1686:0.7397:0.0	.	216;224	B4E063;Q9BW19	.;KIFC1_HUMAN	Q	224	ENSP00000393963:E224Q	ENSP00000393963:E224Q	E	+	1	0	KIFC1	33479798	0.998000	0.40836	1.000000	0.80357	0.205000	0.24178	1.420000	0.34804	1.396000	0.46663	0.563000	0.77884	GAG	KIFC1	-	NULL	ENSG00000237649		0.557	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	205	0.97	2	G	NM_002263		33371820	33371820	+1	no_errors	ENST00000428849	ensembl	human	known	69_37n	missense	128	25.15	43	SNP	1.000	C
KRT72	140807	genome.wustl.edu	37	12	52981502	52981502	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr12:52981502C>T	ENST00000537672.2	-	7	1233	c.1223G>A	c.(1222-1224)cGt>cAt	p.R408H	KRT72_ENST00000398066.3_Missense_Mutation_p.R220H|KRT72_ENST00000354310.4_Missense_Mutation_p.R366H|KRT72_ENST00000293745.2_Missense_Mutation_p.R408H	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	408	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CTGGTACTCACGCAGCATCCG	0.662																																						dbGAP											0													112.0	102.0	105.0					12																	52981502		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1223G>A	12.37:g.52981502C>T	ENSP00000441160:p.Arg408His		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R408H	ENST00000537672.2	37	c.1223	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321236	0.60634	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	4.92	4.01	0.46588	Filament (1);	0.000000	0.52532	D	0.000068	D	0.89588	0.6758	M	0.81802	2.56	0.36315	D	0.857877	B;B	0.29481	0.245;0.245	B;B	0.37387	0.248;0.159	D	0.90839	0.4722	10	0.72032	D	0.01	.	9.2375	0.37475	0.148:0.7685:0.0:0.0835	.	366;408	B4DEI8;Q14CN4	.;K2C72_HUMAN	H	408;408;366;220	ENSP00000441160:R408H;ENSP00000293745:R408H;ENSP00000346269:R366H;ENSP00000446151:R220H	ENSP00000293745:R408H	R	-	2	0	KRT72	51267769	0.059000	0.20769	0.451000	0.26982	0.893000	0.52053	1.036000	0.30228	1.337000	0.45525	0.650000	0.86243	CGT	KRT72	-	pfam_F	ENSG00000170486		0.662	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	178	0.00	0	C	NM_080747		52981502	52981502	-1	no_errors	ENST00000293745	ensembl	human	known	69_37n	missense	171	18.96	40	SNP	0.995	T
LRIT2	340745	genome.wustl.edu	37	10	85984684	85984684	+	Silent	SNP	C	C	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr10:85984684C>A	ENST00000372113.4	-	2	302	c.297G>T	c.(295-297)ctG>ctT	p.L99L	LRIT2_ENST00000538192.1_Silent_p.L99L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	99						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCAGGTGTTCCAGGGCTCCTA	0.527																																						dbGAP											0													139.0	128.0	132.0					10																	85984684		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.297G>T	10.37:g.85984684C>A			B7ZME6	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L99	ENST00000372113.4	37	c.297	CCDS31234.1	10																																																																																			LRIT2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000204033		0.527	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	179	0.56	1	C	XM_291697		85984684	85984684	-1	no_errors	ENST00000538192	ensembl	human	known	69_37n	silent	125	27.84	49	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152384078	152384078	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr2:152384078C>T	ENST00000172853.10	-	119	16801	c.16654G>A	c.(16654-16656)Gaa>Aaa	p.E5552K	NEB_ENST00000604864.1_Missense_Mutation_p.E7253K|NEB_ENST00000603639.1_Missense_Mutation_p.E7253K|NEB_ENST00000427231.2_Missense_Mutation_p.E7253K|NEB_ENST00000397345.3_Missense_Mutation_p.E7253K|NEB_ENST00000409198.1_Missense_Mutation_p.E5552K			P20929	NEBU_HUMAN	nebulin	5552					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTTGGCTTCGTACTGTTTC	0.488																																						dbGAP											0													80.0	80.0	80.0					2																	152384078		1899	4126	6025	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16654G>A	2.37:g.152384078C>T	ENSP00000172853:p.Glu5552Lys		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.E7253K	ENST00000172853.10	37	c.21757		2	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671163	0.67814	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	6.17	6.17	0.99709	.	0.153237	0.56097	D	0.000025	T	0.55369	0.1916	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.80764	0.971;0.994;0.967	T	0.42582	-0.9443	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5552;7253;1983	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	K	5552;7253;7253;1601;1983;5552	ENSP00000386259:E5552K;ENSP00000380505:E7253K;ENSP00000416578:E7253K;ENSP00000410961:E1983K;ENSP00000172853:E5552K	ENSP00000172853:E5552K	E	-	1	0	NEB	152092324	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	5.836000	0.69375	2.941000	0.99782	0.655000	0.94253	GAA	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.488	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		241	0.00	0	C	NM_004543		152384078	152384078	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	186	22.18	53	SNP	1.000	T
METTL5	29081	genome.wustl.edu	37	2	170676119	170676119	+	Silent	SNP	T	T	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr2:170676119T>C	ENST00000260953.5	-	4	757	c.441A>G	c.(439-441)gaA>gaG	p.E147E	METTL5_ENST00000410097.1_Silent_p.E147E|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000392640.2_Silent_p.E147E|METTL5_ENST00000409340.1_Silent_p.E48E|METTL5_ENST00000409965.1_Silent_p.E147E|METTL5_ENST00000409837.1_Silent_p.E147E	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	147							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTCTTGCCATTTCCAAAGCAG	0.343																																						dbGAP											0													140.0	133.0	136.0					2																	170676119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.441A>G	2.37:g.170676119T>C			D3DPC9|Q9NVX1	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA	p.N74D	ENST00000260953.5	37	c.220	CCDS33320.1	2	.	.	.	.	.	.	.	.	.	.	T	14.74	2.624728	0.46840	.	.	ENSG00000138382	ENST00000442181	.	.	.	5.59	3.13	0.36017	.	.	.	.	.	T	0.53061	0.1773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46693	-0.9173	4	.	.	.	-29.1111	5.2621	0.15580	0.0:0.2081:0.1441:0.6478	.	.	.	.	R	58	.	.	K	-	2	0	METTL5	170384365	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.179000	0.16840	0.910000	0.36722	0.460000	0.39030	AAA	METTL5	-	NULL	ENSG00000138382		0.343	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METTL5	HGNC	protein_coding	OTTHUMT00000333957.1	410	0.00	0	T	NM_014168		170676119	170676119	-1	no_start_codon	ENST00000537825	ensembl	human	known	69_37n	missense	293	24.62	96	SNP	0.998	C
NF1	4763	genome.wustl.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	GRCh37	CD000973|CD972354	NF1	D																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3737_3740delTGTT	17.37:g.29562657_29562660delTGTT	ENSP00000351015:p.Leu1246fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.F1247fs	ENST00000358273.4	37	c.3737_3740	CCDS42292.1	17																																																																																			NF1	-	superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP	ENSG00000196712		0.412	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	381	0.00	0	TGTT	NM_000267		29562657	29562660	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	frame_shift_del	238	25.62	83	DEL	1.000:0.780:1.000:1.000	-
NLRC4	58484	genome.wustl.edu	37	2	32476071	32476071	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr2:32476071G>A	ENST00000404025.2	-	5	1350	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	NLRC4_ENST00000360906.5_Missense_Mutation_p.R288W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R288W			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	288	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCAAACTGCCGTATGTGCCTC	0.547																																						dbGAP											0													121.0	101.0	108.0					2																	32476071		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.862C>T	2.37:g.32476071G>A	ENSP00000385090:p.Arg288Trp		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.R288W	ENST00000404025.2	37	c.862	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.321991	0.23994	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.79749	-1.3;-1.3;-1.3	3.26	-3.35	0.04928	.	0.000000	0.50627	D	0.000112	D	0.83991	0.5374	L	0.59436	1.845	0.35776	D	0.821296	D	0.89917	1.0	D	0.73380	0.98	D	0.84484	0.0607	9	0.56958	D	0.05	-14.3726	12.079	0.53659	0.0:0.0:0.5844:0.4156	.	288	Q9NPP4	NLRC4_HUMAN	W	288	ENSP00000354159:R288W;ENSP00000385428:R288W;ENSP00000385090:R288W	ENSP00000354159:R288W	R	-	1	2	NLRC4	32329575	0.815000	0.29118	0.891000	0.34965	0.032000	0.12392	0.030000	0.13688	-0.745000	0.04772	-0.607000	0.04081	CGG	NLRC4	-	NULL	ENSG00000091106		0.547	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	133	0.75	1	G	NM_021209		32476071	32476071	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	missense	98	19.67	24	SNP	0.614	A
PAGE1	8712	genome.wustl.edu	37	X	49459371	49459371	+	Start_Codon_SNP	SNP	C	C	G			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chrX:49459371C>G	ENST00000376150.3	-	2	135	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	1					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					TTAGAAAACCCATATTTCACA	0.368																																						dbGAP											0													69.0	58.0	62.0					X																	49459371		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.3G>C	X.37:g.49459371C>G	ENSP00000365320:p.Met1Ile		Q6FGM3|Q9BSS7	Missense_Mutation	SNP	pfam_GAGE	p.M1I	ENST00000376150.3	37	c.3	CCDS14327.1	X	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528829	0.27387	.	.	ENSG00000068985	ENST00000376150	T	0.13089	2.62	1.63	-0.438	0.12268	.	.	.	.	.	T	0.08492	0.0211	.	.	.	0.19945	N	0.999948	B	0.24618	0.107	B	0.21708	0.036	T	0.34453	-0.9828	8	0.62326	D	0.03	.	2.5895	0.04838	0.0:0.4598:0.3139:0.2263	.	1	O75459	GAGB1_HUMAN	I	1	ENSP00000365320:M1I	ENSP00000365320:M1I	M	-	3	0	PAGE1	49346082	0.930000	0.31532	0.006000	0.13384	0.049000	0.14656	0.603000	0.24149	-0.232000	0.09811	0.436000	0.28706	ATG	PAGE1	-	pfam_GAGE	ENSG00000068985		0.368	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE1	HGNC	protein_coding	OTTHUMT00000081210.1	191	0.00	0	C		Missense_Mutation	49459371	49459371	-1	no_errors	ENST00000376150	ensembl	human	known	69_37n	missense	138	23.20	42	SNP	0.006	G
P2RY10	27334	genome.wustl.edu	37	X	78216027	78216027	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chrX:78216027C>T	ENST00000171757.2	+	4	290	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	P2RY10_ENST00000544091.1_Missense_Mutation_p.L4F|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CATGGCTAACCTTGACAAATA	0.343																																						dbGAP											0													109.0	87.0	94.0					X																	78216027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.10C>T	X.37:g.78216027C>T	ENSP00000171757:p.Leu4Phe		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.L4F	ENST00000171757.2	37	c.10	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070800	0.01918	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.67171	-0.25;-0.25	4.84	2.16	0.27623	.	0.269718	0.19599	N	0.110432	T	0.47414	0.1444	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29882	-0.9997	10	0.34782	T	0.22	.	8.8469	0.35174	0.0:0.7436:0.0:0.2564	.	4	O00398	P2Y10_HUMAN	F	4	ENSP00000443138:L4F;ENSP00000171757:L4F	ENSP00000171757:L4F	L	+	1	0	P2RY10	78102683	0.020000	0.18652	0.058000	0.19502	0.008000	0.06430	0.162000	0.16501	0.144000	0.18951	-0.757000	0.03467	CTT	P2RY10	-	NULL	ENSG00000078589		0.343	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	248	0.40	1	C			78216027	78216027	+1	no_errors	ENST00000171757	ensembl	human	known	69_37n	missense	194	21.77	54	SNP	0.122	T
PIK3CA	5290	genome.wustl.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.Q546K(89)|p.Q546E(12)		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)	AATCACTGAGCAGGAGAAAGA	0.358		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"""	101	Substitution - Missense(101)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)											61.0	61.0	61.0					3																	178936094		1814	4072	5886	-	-	-	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.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys		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.Q546K	ENST00000263967.3	37	c.1636	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	163	0.61	1	C			178936094	178936094	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	147	25.00	49	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	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	223	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	129	30.27	56	SNP	1.000	G
POLR1B	84172	genome.wustl.edu	37	2	113308539	113308539	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr2:113308539G>A	ENST00000263331.5	+	5	1302	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	POLR1B_ENST00000541869.1_Missense_Mutation_p.R279Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.R30Q|POLR1B_ENST00000409894.3_Missense_Mutation_p.R241Q|POLR1B_ENST00000417433.2_Missense_Mutation_p.R185Q	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	241					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTATTTACCGAAAAGAACTG	0.378																																					Ovarian(16;256 576 9537 23969 41147)	dbGAP											0													228.0	214.0	218.0					2																	113308539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.722G>A	2.37:g.113308539G>A	ENSP00000263331:p.Arg241Gln		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.R279Q	ENST00000263331.5	37	c.836	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233817	0.58886	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.02	2.8	0.32819	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.222954	0.47852	N	0.000220	T	0.59321	0.2185	L	0.28649	0.875	0.49687	D	0.999818	B;B;B;B	0.19583	0.01;0.037;0.003;0.001	B;B;B;B	0.15484	0.01;0.007;0.013;0.01	T	0.48969	-0.8987	10	0.19590	T	0.45	-14.94	4.7208	0.12917	0.422:0.0:0.578:0.0	.	279;241;185;241	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	Q	241;279;241;30;185	ENSP00000263331:R241Q;ENSP00000444136:R279Q;ENSP00000387143:R241Q;ENSP00000437914:R30Q;ENSP00000405358:R185Q	ENSP00000263331:R241Q	R	+	2	0	POLR1B	113025010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.282000	0.51693	1.247000	0.43917	0.650000	0.86243	CGA	POLR1B	-	pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2	ENSG00000125630		0.378	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	451	0.00	0	G	NM_019014		113308539	113308539	+1	no_errors	ENST00000541869	ensembl	human	known	69_37n	missense	383	20.17	97	SNP	1.000	A
POLR2G	5436	genome.wustl.edu	37	11	62533187	62533187	+	Silent	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr11:62533187G>A	ENST00000301788.7	+	6	567	c.462G>A	c.(460-462)aaG>aaA	p.K154K		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	154					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						GTGTGGACAAGAATGACATTG	0.443																																						dbGAP											0													147.0	137.0	140.0					11																	62533187		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.462G>A	11.37:g.62533187G>A			B2R5C0|P52433|Q2M1Z4	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_RNA_pol_Rpb7_N,pfam_RNA_pol_III_Rbc25,superfamily_NA-bd_OB-fold-like,superfamily_RNA_pol_Rpb7_N,smart_RNA-binding_domain_S1	p.K154	ENST00000301788.7	37	c.462	CCDS31585.1	11																																																																																			POLR2G	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1	ENSG00000168002		0.443	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2G	HGNC	protein_coding	OTTHUMT00000395344.1	319	0.00	0	G	NM_002696		62533187	62533187	+1	no_errors	ENST00000301788	ensembl	human	known	69_37n	silent	275	25.00	92	SNP	1.000	A
PPP3CB	5532	genome.wustl.edu	37	10	75231327	75231327	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr10:75231327C>T	ENST00000360663.5	-	5	679	c.568G>A	c.(568-570)Gct>Act	p.A190T	PPP3CB_ENST00000394822.2_Missense_Mutation_p.A208T|PPP3CB_ENST00000394828.2_Missense_Mutation_p.A190T|PPP3CB_ENST00000394829.2_Missense_Mutation_p.A190T|PPP3CB_ENST00000342558.3_Missense_Mutation_p.A190T|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000545874.1_Missense_Mutation_p.A104T			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	190	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTATCAAAAGCTTCCATACAA	0.353																																						dbGAP											0													106.0	107.0	106.0					10																	75231327		2203	4300	6503	-	-	-	SO:0001583	missense	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.568G>A	10.37:g.75231327C>T	ENSP00000353881:p.Ala190Thr		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.A190T	ENST00000360663.5	37	c.568	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012159	0.54468	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43	5.56	5.56	0.83823	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.16903	0.455	0.80722	D	1	B;B;B;P;B	0.42203	0.057;0.017;0.046;0.773;0.08	B;B;B;P;B	0.44732	0.06;0.009;0.016;0.459;0.056	T	0.34775	-0.9815	10	0.44086	T	0.13	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	208;104;190;190;190	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	T	190;190;190;190;104;208	ENSP00000353881:A190T;ENSP00000378306:A190T;ENSP00000378305:A190T;ENSP00000343147:A190T;ENSP00000439876:A104T;ENSP00000378299:A208T	ENSP00000343147:A190T	A	-	1	0	PPP3CB	74901333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.036000	0.57304	2.777000	0.95525	0.655000	0.94253	GCT	PPP3CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000107758		0.353	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	176	0.00	0	C	NM_021132		75231327	75231327	-1	no_errors	ENST00000394829	ensembl	human	known	69_37n	missense	149	22.28	43	SNP	1.000	T
RORC	6097	genome.wustl.edu	37	1	151787136	151787136	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr1:151787136C>T	ENST00000318247.6	-	6	954	c.847G>A	c.(847-849)Gag>Aag	p.E283K	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Missense_Mutation_p.E262K|RORC_ENST00000392697.3_Missense_Mutation_p.E337K	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	283	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCATGTCTCCCTGTAGGAC	0.627																																						dbGAP											0													39.0	36.0	37.0					1																	151787136		2203	4300	6503	-	-	-	SO:0001583	missense	0			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.847G>A	1.37:g.151787136C>T	ENSP00000327025:p.Glu283Lys		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.E337K	ENST00000318247.6	37	c.1009	CCDS1004.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768177	0.69878	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.95069	-3.6;-3.6;-3.6	5.57	4.61	0.57282	Nuclear hormone receptor, ligand-binding (2);	0.169857	0.36703	U	0.002442	D	0.92097	0.7495	M	0.78049	2.395	0.80722	D	1	B;B;B;P	0.44627	0.054;0.109;0.046;0.839	B;B;B;B	0.40677	0.012;0.069;0.023;0.337	D	0.92589	0.6081	10	0.51188	T	0.08	.	13.635	0.62217	0.0:0.8435:0.1565:0.0	.	283;337;283;262	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	K	262;337;283	ENSP00000349164:E262K;ENSP00000376461:E337K;ENSP00000327025:E283K	ENSP00000327025:E283K	E	-	1	0	RORC	150053760	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	5.950000	0.70265	2.620000	0.88729	0.563000	0.77884	GAG	RORC	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ROR_rcpt	ENSG00000143365		0.627	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	92	0.00	0	C			151787136	151787136	-1	no_errors	ENST00000392697	ensembl	human	known	69_37n	missense	112	18.84	26	SNP	1.000	T
PRRX1	5396	genome.wustl.edu	37	1	170688909	170688909	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr1:170688909G>A	ENST00000239461.6	+	2	597	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	PRRX1_ENST00000367760.3_Missense_Mutation_p.R95Q|PRRX1_ENST00000497230.2_Missense_Mutation_p.R95Q	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	95					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAAGCAGCGAAGGAATAGG	0.458																																						dbGAP											0													80.0	73.0	75.0					1																	170688909		2203	4300	6503	-	-	-	SO:0001583	missense	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.284G>A	1.37:g.170688909G>A	ENSP00000239461:p.Arg95Gln		B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.R95Q	ENST00000239461.6	37	c.284	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.593356	0.96602	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	H	0.94734	3.575	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.76575	0.988;0.947	D	0.99755	1.1019	10	0.87932	D	0	.	17.5667	0.87922	0.0:0.0:1.0:0.0	.	95;95	P54821;P54821-2	PRRX1_HUMAN;.	Q	48;95;95;95	ENSP00000451943:R48Q;ENSP00000356734:R95Q;ENSP00000239461:R95Q;ENSP00000450762:R95Q	ENSP00000239461:R95Q	R	+	2	0	PRRX1	168955533	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	2.463000	0.83235	0.655000	0.94253	CGA	PRRX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000116132		0.458	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	143	0.69	1	G	NM_006902		170688909	170688909	+1	no_errors	ENST00000239461	ensembl	human	known	69_37n	missense	163	15.54	30	SNP	1.000	A
SCN5A	6331	genome.wustl.edu	37	3	38593036	38593036	+	Silent	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr3:38593036C>T	ENST00000333535.4	-	28	4976	c.4827G>A	c.(4825-4827)tcG>tcA	p.S1609S	SCN5A_ENST00000451551.2_Silent_p.S1555S|SCN5A_ENST00000413689.1_Silent_p.S1609S|SCN5A_ENST00000423572.2_Silent_p.S1608S|SCN5A_ENST00000455624.2_Silent_p.S1576S|SCN5A_ENST00000425664.1_Silent_p.S1591S|SCN5A_ENST00000450102.2_Silent_p.S1555S|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Silent_p.S1591S|SCN5A_ENST00000443581.1_Silent_p.S1608S|SCN5A_ENST00000449557.2_Silent_p.S1555S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1609			S -> W (in LQT3). {ECO:0000269|PubMed:16922724}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGATGATGTCCGAGAGCACAG	0.612																																						dbGAP											0													59.0	63.0	62.0					3																	38593036		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4827G>A	3.37:g.38593036C>T			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.S1609	ENST00000333535.4	37	c.4827	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	112	0.00	0	C	NM_198056		38593036	38593036	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	silent	58	33.33	29	SNP	0.210	T
SEC31A	22872	genome.wustl.edu	37	4	83763540	83763541	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr4:83763540_83763541insT	ENST00000395310.2	-	22	2902_2903	c.2720_2721insA	c.(2719-2721)tacfs	p.Y907fs	SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.Y938fs|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000500777.2_Intron|SEC31A_ENST00000432794.1_Frame_Shift_Ins_p.Y907fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.Y907fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.Y907fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.Y671fs|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.Y907fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.Y868fs|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.Y868fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.Y868fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.Y902fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	907	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGGTGTTAGGGTAAGCGTTTGA	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2721dupA	4.37:g.83763541_83763541dupT	ENSP00000378721:p.Tyr907fs		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y907fs	ENST00000395310.2	37	c.2721_2720	CCDS3596.1	4																																																																																			SEC31A	-	NULL	ENSG00000138674		0.545	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	174	0.00	0	-	NM_016211		83763540	83763541	-1	no_errors	ENST00000432794	ensembl	human	known	69_37n	frame_shift_ins	106	14.52	18	INS	1.000:1.000	T
SOCS6	9306	genome.wustl.edu	37	18	67992128	67992128	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr18:67992128G>T	ENST00000397942.3	+	2	540	c.224G>T	c.(223-225)gGt>gTt	p.G75V	SOCS6_ENST00000582322.1_Missense_Mutation_p.G75V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	75					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AGCCTGATGGGTACGCTAAAA	0.498																																					Melanoma(84;1024 1361 24382 36583 42651)	dbGAP											0													92.0	95.0	94.0					18																	67992128		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.224G>T	18.37:g.67992128G>T	ENSP00000381034:p.Gly75Val		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.G75V	ENST00000397942.3	37	c.224	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408998	0.25378	.	.	ENSG00000170677	ENST00000397942	T	0.49720	0.77	5.49	5.49	0.81192	.	0.128614	0.51477	D	0.000082	T	0.65101	0.2659	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66732	-0.5849	10	0.87932	D	0	-14.916	19.4094	0.94662	0.0:0.0:1.0:0.0	.	75	O14544	SOCS6_HUMAN	V	75	ENSP00000381034:G75V	ENSP00000381034:G75V	G	+	2	0	SOCS6	66143108	1.000000	0.71417	0.965000	0.40720	0.016000	0.09150	9.793000	0.99091	2.583000	0.87209	0.561000	0.74099	GGT	SOCS6	-	NULL	ENSG00000170677		0.498	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	175	0.00	0	G			67992128	67992128	+1	no_errors	ENST00000397942	ensembl	human	known	69_37n	missense	123	23.12	37	SNP	1.000	T
SPRTN	83932	genome.wustl.edu	37	1	231474051	231474051	+	5'UTR	SNP	C	C	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr1:231474051C>A	ENST00000295050.7	+	0	258				SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_5'Flank|EXOC8_ENST00000366645.1_5'Flank|SPRTN_ENST00000008440.9_5'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain						cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										TCCTGGTCCTCGGCTAGGCGG	0.637																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.-79C>A	1.37:g.231474051C>A			B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	RNA	SNP	-	NULL	ENST00000295050.7	37	NULL	CCDS1594.1	1																																																																																			SPRTN	-	-	ENSG00000010072		0.637	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	HGNC	protein_coding	OTTHUMT00000092858.1	30	0.00	0	C	NM_032018		231474051	231474051	+1	no_errors	ENST00000492437	ensembl	human	known	69_37n	rna	30	36.17	17	SNP	0.000	A
TRPM2	7226	genome.wustl.edu	37	21	45826592	45826592	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr21:45826592G>C	ENST00000397928.1	+	19	3351	c.2906G>C	c.(2905-2907)gGg>gCg	p.G969A	TRPM2_ENST00000397932.2_Missense_Mutation_p.G969A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G949A|TRPM2_ENST00000300482.5_Missense_Mutation_p.G969A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	969					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGTTCCGAGGGGCCGTCTAC	0.652																																						dbGAP											0													55.0	49.0	51.0					21																	45826592		2179	4286	6465	-	-	-	SO:0001583	missense	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2906G>C	21.37:g.45826592G>C	ENSP00000381023:p.Gly969Ala		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.G969A	ENST00000397928.1	37	c.2906	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	g	27.2	4.807254	0.90623	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	3.98	3.98	0.46160	Ion transport (1);	0.066180	0.64402	D	0.000012	T	0.81721	0.4882	M	0.81682	2.555	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.71870	0.975;0.964;0.975	D	0.85038	0.0921	10	0.59425	D	0.04	-39.7241	16.4997	0.84254	0.0:0.0:1.0:0.0	.	969;755;969	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	A	969;969;949;969	ENSP00000300482:G969A;ENSP00000381023:G969A;ENSP00000300481:G949A;ENSP00000381026:G969A	ENSP00000300481:G949A	G	+	2	0	TRPM2	44651020	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	7.577000	0.82486	1.934000	0.56057	0.536000	0.68110	GGG	TRPM2	-	pfam_Ion_trans_dom	ENSG00000142185		0.652	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	104	0.00	0	G	NM_003307		45826592	45826592	+1	no_errors	ENST00000300482	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	1.000	C
USP47	55031	genome.wustl.edu	37	11	11977640	11977640	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr11:11977640G>A	ENST00000399455.2	+	29	4166	c.4046G>A	c.(4045-4047)cGt>cAt	p.R1349H	USP47_ENST00000339865.5_Missense_Mutation_p.R1261H|USP47_ENST00000539466.1_Missense_Mutation_p.R131H|USP47_ENST00000527733.1_Missense_Mutation_p.R1329H|USP47_ENST00000305481.6_3'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1349					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ACTGGACATCGTGTAACATAC	0.368																																						dbGAP											0													111.0	106.0	108.0					11																	11977640		1844	4092	5936	-	-	-	SO:0001583	missense	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.4046G>A	11.37:g.11977640G>A	ENSP00000382382:p.Arg1349His		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R1349H	ENST00000399455.2	37	c.4046		11	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232685	0.39498	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000539466;ENST00000399455	T;T;T	0.04406	3.64;3.64;3.63	5.25	4.32	0.51571	.	0.052709	0.85682	D	0.000000	T	0.06096	0.0158	L	0.44542	1.39	0.58432	D	0.999997	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.19063	-1.0317	10	0.56958	D	0.05	.	13.2778	0.60198	0.0774:0.0:0.9225:0.0	.	1329;1261	E9PM46;Q96K76-2	.;.	H	1261;1329;131;1349	ENSP00000339957:R1261H;ENSP00000433146:R1329H;ENSP00000382382:R1349H	ENSP00000339957:R1261H	R	+	2	0	USP47	11934216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.603000	0.88011	0.655000	0.94253	CGT	USP47	-	NULL	ENSG00000170242		0.368	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	171	0.00	0	G	NM_017944		11977640	11977640	+1	no_errors	ENST00000399455	ensembl	human	known	69_37n	missense	154	22.22	44	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100479736	100479736	+	Silent	SNP	T	T	C			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr8:100479736T>C	ENST00000358544.2	+	24	3651	c.3540T>C	c.(3538-3540)ggT>ggC	p.G1180G	VPS13B_ENST00000395996.1_Silent_p.G1180G|VPS13B_ENST00000357162.2_Silent_p.G1180G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1180					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACCTATGGGTTGCACCTCCA	0.448																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													247.0	221.0	230.0					8																	100479736		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3540T>C	8.37:g.100479736T>C			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.G1180	ENST00000358544.2	37	c.3540	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.448	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	308	0.32	1	T	NM_184042		100479736	100479736	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	silent	230	22.74	68	SNP	1.000	C
XPO1	7514	genome.wustl.edu	37	2	61719472	61719472	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr2:61719472C>T	ENST00000401558.2	-	15	2438	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	XPO1_ENST00000404992.2_Missense_Mutation_p.E571K|XPO1_ENST00000406957.1_Missense_Mutation_p.E571K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	571	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.E571K(5)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGCATGAATTCGAACAGCTTG	0.313			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|prostate(1)|endometrium(1)											66.0	63.0	64.0					2																	61719472		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1711G>A	2.37:g.61719472C>T	ENSP00000384863:p.Glu571Lys		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E571K	ENST00000401558.2	37	c.1711	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.629400	0.96671	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66099	-0.19;-0.19;-0.19	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88632	0.3170	10	0.66056	D	0.02	-19.4383	20.0572	0.97657	0.0:1.0:0.0:0.0	.	218;571	B3KWD0;O14980	.;XPO1_HUMAN	K	571	ENSP00000384863:E571K;ENSP00000385942:E571K;ENSP00000385559:E571K	ENSP00000384863:E571K	E	-	1	0	XPO1	61572976	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.722000	0.84778	2.826000	0.97356	0.655000	0.94253	GAA	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.313	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	147	0.00	0	C	NM_003400		61719472	61719472	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	121	21.43	33	SNP	1.000	T
ZCCHC16	340595	genome.wustl.edu	37	X	111698859	111698859	+	Silent	SNP	G	G	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chrX:111698859G>A	ENST00000340433.2	+	1	1133	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCGAGCTCCGGCAACGACAA	0.468													A|||	2	0.000529801	0.0	0.0	3775	,	,		14649	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													37.0	36.0	36.0					X																	111698859		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.903G>A	X.37:g.111698859G>A			B2RPG1	Silent	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.P301	ENST00000340433.2	37	c.903	CCDS35369.1	X																																																																																			ZCCHC16	-	superfamily_Znf_CCHC	ENSG00000187823		0.468	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	79	0.00	0	G	NM_001004308		111698859	111698859	+1	no_errors	ENST00000340433	ensembl	human	known	69_37n	silent	72	19.10	17	SNP	0.795	A
ZFP64	55734	genome.wustl.edu	37	20	50701381	50701381	+	Silent	SNP	C	C	T			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr20:50701381C>T	ENST00000361387.2	-	9	1713	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	ZFP64_ENST00000371523.4_Silent_p.K332K|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTTCTCCGTCTTGGCCTCGT	0.637																																						dbGAP											0													54.0	47.0	49.0					20																	50701381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1653G>A	20.37:g.50701381C>T			Q9NTS7|Q9NVH4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K551	ENST00000361387.2	37	c.1653	CCDS13439.1	20																																																																																			ZFP64	-	pfscan_Znf_C2H2	ENSG00000020256		0.637	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079743.2	77	0.00	0	C	NM_018197		50701381	50701381	-1	no_errors	ENST00000361387	ensembl	human	known	69_37n	silent	57	18.57	13	SNP	0.148	T
ZNF257	113835	genome.wustl.edu	37	19	22271888	22271888	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18F-01A-11D-A12B-09	TCGA-BH-A18F-11A-22D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d414b3fe-b768-4a98-b285-5284bffa66f9	8404ab78-054d-4cd1-b92e-951f3047ff45	g.chr19:22271888C>A	ENST00000594947.1	+	4	1480	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCTTCATACCTTATTCGACA	0.393																																						dbGAP											0													47.0	52.0	50.0					19																	22271888		2124	4254	6378	-	-	-	SO:0001583	missense	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1336C>A	19.37:g.22271888C>A	ENSP00000470209:p.Leu446Ile		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L446I	ENST00000594947.1	37	c.1336	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548939	0.27652	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66733	0.2819	M	0.87456	2.885	0.09310	N	1	D	0.64830	0.994	D	0.77557	0.99	T	0.52525	-0.8564	8	0.72032	D	0.01	.	5.1902	0.15205	0.0:0.7751:0.0:0.2248	.	446	Q9Y2Q1	ZN257_HUMAN	I	446;418	.	ENSP00000380312:L418I	L	+	1	0	ZNF257	22063728	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.280000	0.08468	0.518000	0.28383	0.313000	0.20887	CTT	ZNF257	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197134		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	132	0.00	0	C			22271888	22271888	+1	no_errors	ENST00000435820	ensembl	human	known	69_37n	missense	119	14.39	20	SNP	0.018	A
