#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AADACL4	343066	genome.wustl.edu	37	1	12726089	12726089	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12726089C>T	ENST00000376221.1	+	4	567	c.567C>T	c.(565-567)gtC>gtT	p.V189V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	189						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGTTGTGGTCTGTGGAGAAA	0.587																																																	0													66.0	69.0	68.0					1																	12726089		2203	4300	6503	SO:0001819	synonymous_variant	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.567C>T	1.37:g.12726089C>T				Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.V189	ENST00000376221.1	37	c.567	CCDS30590.1	1																																																																																			AADACL4	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase		0.587	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	HGNC	protein_coding	OTTHUMT00000005328.1	C	NM_001013630		12726089	+1	no_errors	ENST00000376221	ensembl	human	known	70_37	silent	SNP	0.037	T
ABCA1	19	genome.wustl.edu	37	9	107620810	107620810	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:107620810G>A	ENST00000374736.3	-	7	1107	c.713C>T	c.(712-714)cCa>cTa	p.P238L	ABCA1_ENST00000423487.2_Missense_Mutation_p.P238L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	238					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CACCAGGATTGGCTTCAGGAT	0.468																																																	0													161.0	161.0	161.0					9																	107620810		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.713C>T	9.37:g.107620810G>A	ENSP00000363868:p.Pro238Leu		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P238L	ENST00000374736.3	37	c.713	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837646	0.32513	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.94457	-2.29;-3.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	L	0.41961	1.31	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	D	0.85034	0.0919	10	0.05525	T	0.97	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	238	O95477	ABCA1_HUMAN	L	238	ENSP00000363868:P238L;ENSP00000416623:P238L	ENSP00000363868:P238L	P	-	2	0	ABCA1	106660631	1.000000	0.71417	0.974000	0.42286	0.026000	0.11368	6.005000	0.70716	2.941000	0.99782	0.655000	0.94253	CCA	ABCA1	-	NULL		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107620810	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	missense	SNP	0.993	A
ABCA12	26154	genome.wustl.edu	37	2	215876202	215876202	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:215876202C>G	ENST00000272895.7	-	17	2512	c.2293G>C	c.(2293-2295)Gag>Cag	p.E765Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.E447Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	765					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCAATTTGCTCTTTAGTTAAT	0.353																																					Ovarian(66;664 1488 5121 34295)												0													60.0	67.0	64.0					2																	215876202		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2293G>C	2.37:g.215876202C>G	ENSP00000272895:p.Glu765Gln		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E765Q	ENST00000272895.7	37	c.2293	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093662	0.20471	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85339	-1.97;-1.97	5.25	0.264	0.15607	.	0.585786	0.17202	N	0.183091	T	0.70544	0.3236	N	0.24115	0.695	0.80722	D	1	B;B	0.17667	0.023;0.019	B;B	0.17098	0.01;0.017	T	0.55335	-0.8157	10	0.33940	T	0.23	.	5.1873	0.15191	0.0:0.4208:0.2613:0.3178	.	765;447	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	765;447	ENSP00000272895:E765Q;ENSP00000374312:E447Q	ENSP00000272895:E765Q	E	-	1	0	ABCA12	215584447	0.998000	0.40836	0.997000	0.53966	0.590000	0.36582	0.245000	0.18142	0.048000	0.15891	-0.878000	0.02970	GAG	ABCA12	-	NULL		0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215876202	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	0.979	G
ABCA13	154664	genome.wustl.edu	37	7	48315169	48315169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:48315169C>A	ENST00000435803.1	+	17	5930	c.5906C>A	c.(5905-5907)tCa>tAa	p.S1969*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1969					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAGTTACATCAGGTGAAAAT	0.313																																																	0													38.0	36.0	37.0					7																	48315169		1813	4081	5894	SO:0001587	stop_gained	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5906C>A	7.37:g.48315169C>A	ENSP00000411096:p.Ser1969*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1969*	ENST00000435803.1	37	c.5906	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.833086	0.99475	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.32	0.344	0.16006	.	2.048190	0.02623	N	0.103397	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8724	0.29573	0.0:0.4405:0.0:0.5595	.	.	.	.	X	1969	.	.	S	+	2	0	ABCA13	48285715	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.463000	0.06696	0.062000	0.16340	0.585000	0.79938	TCA	ABCA13	-	NULL		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48315169	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ABCB11	8647	genome.wustl.edu	37	2	169825872	169825872	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:169825872C>G	ENST00000263817.6	-	16	2123	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	667	Interaction with HAX1. {ECO:0000250}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTTATGTCCTCTTCATTAAGA	0.368																																																	0													127.0	116.0	120.0					2																	169825872		1867	4091	5958	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1999G>C	2.37:g.169825872C>G	ENSP00000263817:p.Glu667Gln		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E667Q	ENST00000263817.6	37	c.1999	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713121	0.30413	.	.	ENSG00000073734	ENST00000263817	D	0.87256	-2.23	5.32	-2.04	0.07343	.	3.931360	0.00757	N	0.001116	T	0.81711	0.4880	L	0.29908	0.895	0.09310	N	1	B;B	0.20261	0.043;0.018	B;B	0.20955	0.032;0.021	T	0.66662	-0.5867	10	0.37606	T	0.19	.	12.0664	0.53590	0.0:0.2898:0.0:0.7102	.	109;667	B4DZQ8;O95342	.;ABCBB_HUMAN	Q	667	ENSP00000263817:E667Q	ENSP00000263817:E667Q	E	-	1	0	ABCB11	169534118	0.003000	0.15002	0.001000	0.08648	0.185000	0.23345	1.206000	0.32321	-0.255000	0.09486	0.585000	0.79938	GAG	ABCB11	-	NULL		0.368	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	C	NM_003742		169825872	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	missense	SNP	0.000	G
ABL1	25	genome.wustl.edu	37	9	133730462	133730462	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:133730462C>T	ENST00000318560.5	+	3	909	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	176	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ATTACAGGATCAACACTGCTT	0.572			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													85.0	78.0	80.0					9																	133730462		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.528C>T	9.37:g.133730462C>T			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.I195	ENST00000318560.5	37	c.585	CCDS35166.1	9																																																																																			ABL1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.572	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133730462	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	silent	SNP	1.000	T
ACCSL	390110	genome.wustl.edu	37	11	44069823	44069823	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:44069823C>T	ENST00000378832.1	+	1	293	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	79					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GCCGGATGATCAACCTCCTAC	0.582																																																	0													97.0	105.0	102.0					11																	44069823		2042	4203	6245	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.237C>T	11.37:g.44069823C>T				Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.I79	ENST00000378832.1	37	c.237	CCDS41636.1	11																																																																																			ACCSL	-	NULL		0.582	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	C	NM_001031854		44069823	+1	no_errors	ENST00000378832	ensembl	human	known	70_37	silent	SNP	0.001	T
ACMSD	130013	genome.wustl.edu	37	2	135628535	135628535	+	Splice_Site	SNP	G	G	A	rs267598886		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:135628535G>A	ENST00000356140.5	+	7	717	c.581G>A	c.(580-582)gGa>gAa	p.G194E	AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000392928.1_Splice_Site_p.G136E|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000283054.4_Splice_Site_p.G136E|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	194					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCTCTTTCAGGAATGCCAGCA	0.453																																																	0													132.0	111.0	118.0					2																	135628535		2203	4300	6503	SO:0001630	splice_region_variant	130013			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.581-1G>A	2.37:g.135628535G>A			Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	pfam_Amidohydro_2	p.G194E	ENST00000356140.5	37	c.581	CCDS2173.2	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895995	0.91962	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.89880	0.6843	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92706	0.6179	8	.	.	.	.	19.529	0.95219	0.0:0.0:1.0:0.0	.	136;194	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	E	194;136;136	.	.	G	+	2	0	ACMSD	135345005	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.777000	0.99008	2.604000	0.88044	0.585000	0.79938	GGA	ACMSD	-	pfam_Amidohydro_2		0.453	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACMSD	HGNC	protein_coding	OTTHUMT00000254627.1	G		Missense_Mutation	135628535	+1	no_errors	ENST00000356140	ensembl	human	known	70_37	missense	SNP	1.000	A
ACOX2	8309	genome.wustl.edu	37	3	58517055	58517055	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:58517055C>T	ENST00000302819.5	-	7	1033	c.742G>A	c.(742-744)Gat>Aat	p.D248N	ACOX2_ENST00000459701.2_Missense_Mutation_p.D248N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	248					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTGTTTGATCAAAGTCCATC	0.527																																																	0													156.0	129.0	138.0					3																	58517055		2203	4300	6503	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.742G>A	3.37:g.58517055C>T	ENSP00000307697:p.Asp248Asn		A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.D248N	ENST00000302819.5	37	c.742	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641196	0.29157	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.62364	0.03;0.03	5.06	2.22	0.28083	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.692994	0.14032	N	0.346073	T	0.33933	0.0880	N	0.04768	-0.165	0.27922	N	0.938212	B	0.11235	0.004	B	0.14578	0.011	T	0.23976	-1.0173	10	0.02654	T	1	-17.5576	10.0107	0.41984	0.0:0.6451:0.2815:0.0734	.	248	Q99424	ACOX2_HUMAN	N	248	ENSP00000418562:D248N;ENSP00000307697:D248N	ENSP00000307697:D248N	D	-	1	0	ACOX2	58492095	0.809000	0.29036	0.017000	0.16124	0.576000	0.36127	1.582000	0.36568	0.226000	0.20979	0.655000	0.94253	GAT	ACOX2	-	superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58517055	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	missense	SNP	0.965	T
ACSS3	79611	genome.wustl.edu	37	12	81568569	81568569	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:81568569G>A	ENST00000548058.1	+	8	2011	c.1101G>A	c.(1099-1101)ggG>ggA	p.G367G	ACSS3_ENST00000261206.3_Silent_p.G366G|ACSS3_ENST00000548324.1_Silent_p.G49G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	367						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATTGTAGGGGAAGCCTGTGG	0.388																																																	0													80.0	72.0	75.0					12																	81568569		2203	4300	6503	SO:0001819	synonymous_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1101G>A	12.37:g.81568569G>A			Q8NC66	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.G367	ENST00000548058.1	37	c.1101	CCDS9022.1	12																																																																																			ACSS3	-	pfam_AMP-dep_Synth/Lig		0.388	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	G	NM_024560		81568569	+1	no_errors	ENST00000548058	ensembl	human	known	70_37	silent	SNP	0.999	A
C1orf146	388649	genome.wustl.edu	37	1	92694325	92694325	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:92694325C>G	ENST00000370375.3	+	2	109				AL451010.1_ENST00000581900.1_RNA|C1orf146_ENST00000370373.2_Intron|ACTBP12_ENST00000594933.1_RNA	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGGTTGAAATCAAAGATATGT	0.433																																																	0																																										SO:0001627	intron_variant	100462767				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.-39-2614C>G	1.37:g.92694325C>G			Q5VVC4	RNA	SNP	-	NULL	ENST00000370375.3	37	NULL	CCDS30772.1	1																																																																																			ACTBP12	-	-		0.433	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBP12	HGNC	protein_coding	OTTHUMT00000028364.1	C	NM_001012425		92694325	-1	no_errors	ENST00000594933	ensembl	human	known	70_37	rna	SNP	0.993	G
ACTG1	71	genome.wustl.edu	37	17	79478443	79478443	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79478443C>T	ENST00000575842.1	-	3	999	c.573G>A	c.(571-573)aaG>aaA	p.K191K	ACTG1_ENST00000331925.2_Silent_p.K191K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.K191K|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Silent_p.K191K			P63261	ACTG_HUMAN	actin, gamma 1	191					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CAGTGAGGATCTTCATGAGGT	0.642																																																	0													51.0	53.0	52.0					17																	79478443		2203	4300	6503	SO:0001819	synonymous_variant	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.573G>A	17.37:g.79478443C>T			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.K191	ENST00000575842.1	37	c.573	CCDS11782.1	17																																																																																			ACTG1	-	pfam_Actin-like,smart_Actin-like		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79478443	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	silent	SNP	1.000	T
ACTG1	71	genome.wustl.edu	37	17	79479369	79479369	+	Silent	SNP	C	C	T	rs201579883		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79479369C>T	ENST00000575842.1	-	1	438	c.12G>A	c.(10-12)gaG>gaA	p.E4E	ACTG1_ENST00000331925.2_Silent_p.E4E|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.E4E|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Silent_p.E4E			P63261	ACTG_HUMAN	actin, gamma 1	4					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCGCGGCGATCTCTTCTTCCA	0.637																																																	0													79.0	86.0	83.0					17																	79479369		2203	4300	6503	SO:0001819	synonymous_variant	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.12G>A	17.37:g.79479369C>T			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E4	ENST00000575842.1	37	c.12	CCDS11782.1	17																																																																																			ACTG1	-	pfam_Actin-like		0.637	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79479369	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	silent	SNP	1.000	T
ACTG1	71	genome.wustl.edu	37	17	79479374	79479374	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79479374C>T	ENST00000575842.1	-	1	433	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	ACTG1_ENST00000331925.2_Missense_Mutation_p.E3K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.E3K|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.E3K			P63261	ACTG_HUMAN	actin, gamma 1	3					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCGATCTCTTCTTCCATTGCG	0.627																																																	0													76.0	83.0	81.0					17																	79479374		2203	4300	6503	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.7G>A	17.37:g.79479374C>T	ENSP00000458162:p.Glu3Lys		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E3K	ENST00000575842.1	37	c.7	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141801	0.37825	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94650	-3.48	3.85	2.88	0.33553	.	0.242632	0.32753	U	0.005684	D	0.94696	0.8289	M	0.91249	3.19	0.49389	D	0.999789	B	0.17268	0.021	B	0.22152	0.038	D	0.92767	0.6229	10	0.87932	D	0	.	10.1659	0.42879	0.0:0.899:0.0:0.101	.	3	P63261	ACTG_HUMAN	K	3	ENSP00000331514:E3K	ENSP00000331514:E3K	E	-	1	0	ACTG1	77093969	1.000000	0.71417	0.992000	0.48379	0.631000	0.37964	7.018000	0.76406	0.828000	0.34709	0.563000	0.77884	GAA	ACTG1	-	pfam_Actin-like		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79479374	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	T
ACTL7B	10880	genome.wustl.edu	37	9	111617580	111617580	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:111617580C>T	ENST00000374667.3	-	1	1659	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	211						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACGTCGCCCTCGGATATGGGC	0.662																																																	0													45.0	38.0	40.0					9																	111617580		2203	4298	6501	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.631G>A	9.37:g.111617580C>T	ENSP00000363799:p.Glu211Lys		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E211K	ENST00000374667.3	37	c.631	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691089	0.68271	.	.	ENSG00000148156	ENST00000374667	D	0.95035	-3.59	4.63	3.71	0.42584	.	0.185423	0.25866	N	0.027786	D	0.95843	0.8647	M	0.85462	2.755	0.45979	D	0.998798	D	0.59357	0.985	P	0.52309	0.695	D	0.95720	0.8765	10	0.87932	D	0	.	12.2948	0.54840	0.0:0.8277:0.1723:0.0	.	211	Q9Y614	ACL7B_HUMAN	K	211	ENSP00000363799:E211K	ENSP00000363799:E211K	E	-	1	0	ACTL7B	110657401	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	4.864000	0.62990	1.130000	0.42092	0.655000	0.94253	GAG	ACTL7B	-	pfam_Actin-like,smart_Actin-like		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617580	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	0.998	T
ACTN2	88	genome.wustl.edu	37	1	236883473	236883473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:236883473C>T	ENST00000366578.4	+	4	596	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q144*|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	144	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTTGCTATTCAGGATATTTC	0.333																																																	0													119.0	112.0	115.0					1																	236883473		2203	4300	6503	SO:0001587	stop_gained	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.430C>T	1.37:g.236883473C>T	ENSP00000355537:p.Gln144*		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q144*	ENST00000366578.4	37	c.430	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.870639	0.98534	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000355537:Q144X	Q	+	1	0	ACTN2	234950096	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.444000	0.80532	2.752000	0.94435	0.655000	0.94253	CAG	ACTN2	-	superfamily_CH-domain		0.333	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	C	NM_001103		236883473	+1	no_errors	ENST00000366578	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ADAM11	4185	genome.wustl.edu	37	17	42851877	42851877	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:42851877G>A	ENST00000200557.6	+	13	1264	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	ADAM11_ENST00000535346.1_Silent_p.A165A	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACATGGGGGCGATGGCCGTGA	0.637																																																	0													45.0	42.0	43.0					17																	42851877		2202	4300	6502	SO:0001819	synonymous_variant	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1095G>A	17.37:g.42851877G>A			Q14808|Q14809|Q14810	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A365	ENST00000200557.6	37	c.1095	CCDS11486.1	17																																																																																			ADAM11	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.637	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	HGNC	protein_coding	OTTHUMT00000444531.1	G	NM_002390		42851877	+1	no_errors	ENST00000200557	ensembl	human	known	70_37	silent	SNP	0.025	A
ADAM15	8751	genome.wustl.edu	37	1	155030771	155030771	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:155030771C>G	ENST00000356955.2	+	15	1872	c.1771C>G	c.(1771-1773)Ctg>Gtg	p.L591V	ADAM15_ENST00000368413.1_Missense_Mutation_p.L297V|ADAM15_ENST00000531455.1_Missense_Mutation_p.L601V|ADAM15_ENST00000359280.4_Missense_Mutation_p.L591V|ADAM15_ENST00000449910.2_Missense_Mutation_p.L591V|ADAM15_ENST00000360674.4_Missense_Mutation_p.L591V|ADAM15_ENST00000447332.3_Missense_Mutation_p.L575V|ADAM15_ENST00000271836.6_Missense_Mutation_p.L591V|ADAM15_ENST00000368410.2_Missense_Mutation_p.L297V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.L591V|ADAM15_ENST00000355956.2_Missense_Mutation_p.L591V	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	591	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCCAGCCTCTGCTGGGCTC	0.597																																																	0													40.0	41.0	40.0					1																	155030771		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1771C>G	1.37:g.155030771C>G	ENSP00000349436:p.Leu591Val		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L591V	ENST00000356955.2	37	c.1771	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	3.143	-0.175861	0.06421	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.37	3.52	0.40303	ADAM, cysteine-rich (2);	0.000000	0.35235	N	0.003342	T	0.13970	0.0338	L	0.39245	1.2	0.40467	D	0.980301	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;0.998;0.997;1.0;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.955;0.999;0.957;0.999;0.999;0.999;0.967;0.999;0.999	T	0.22977	-1.0201	10	0.09338	T	0.73	.	4.6714	0.12691	0.1736:0.6507:0.0:0.1756	.	601;608;575;591;591;591;591;591;591;591;588	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	V	591;591;591;591;591;591;297;591;297;601	ENSP00000349436:L591V;ENSP00000403843:L591V;ENSP00000352226:L591V;ENSP00000353892:L591V;ENSP00000357397:L591V;ENSP00000348227:L591V;ENSP00000357395:L297V;ENSP00000271836:L591V;ENSP00000357398:L297V;ENSP00000432927:L601V	ENSP00000271836:L591V	L	+	1	2	ADAM15	153297395	1.000000	0.71417	0.995000	0.50966	0.164000	0.22412	2.709000	0.47160	0.855000	0.35359	0.650000	0.86243	CTG	ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.597	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	C	NM_003815		155030771	+1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.997	G
ADAMTS12	81792	genome.wustl.edu	37	5	33576974	33576974	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:33576974G>C	ENST00000504830.1	-	19	3492	c.3157C>G	c.(3157-3159)Cct>Gct	p.P1053A	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P968A|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1053	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGTGGTAGGACTAGGGCTG	0.557										HNSCC(64;0.19)																																							0													126.0	123.0	124.0					5																	33576974		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3157C>G	5.37:g.33576974G>C	ENSP00000422554:p.Pro1053Ala		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1053A	ENST00000504830.1	37	c.3157	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	4.828	0.153906	0.09185	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.21;0.18	5.08	2.87	0.33458	.	0.724118	0.13961	N	0.350835	T	0.45736	0.1357	L	0.32530	0.975	0.09310	N	1	B;B	0.26147	0.143;0.043	B;B	0.30572	0.117;0.04	T	0.39643	-0.9604	10	0.48119	T	0.1	.	7.4406	0.27181	0.3489:0.0:0.6511:0.0	.	968;1053	P58397-3;P58397	.;ATS12_HUMAN	A	1053;968	ENSP00000422554:P1053A;ENSP00000344847:P968A	ENSP00000344847:P968A	P	-	1	0	ADAMTS12	33612731	0.308000	0.24509	0.020000	0.16555	0.118000	0.20060	0.741000	0.26202	0.478000	0.27488	-0.136000	0.14681	CCT	ADAMTS12	-	NULL		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33576974	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.001	C
ADAMTS18	170692	genome.wustl.edu	37	16	77397746	77397746	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:77397746C>G	ENST00000282849.5	-	6	1427	c.1009G>C	c.(1009-1011)Gac>Cac	p.D337H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D337H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGTTTATGTCACTTCCAATA	0.378																																																	1	Substitution - Missense(1)	lung(1)											99.0	88.0	92.0					16																	77397746		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1009G>C	16.37:g.77397746C>G	ENSP00000282849:p.Asp337His		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D337H	ENST00000282849.5	37	c.1009	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946340	0.73672	.	.	ENSG00000140873	ENST00000282849	D	0.87334	-2.24	5.22	5.22	0.72569	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	N	0.17764	0.52	0.58432	D	0.999998	D	0.55385	0.971	D	0.64595	0.927	D	0.83805	0.0238	10	0.17369	T	0.5	.	17.968	0.89105	0.0:1.0:0.0:0.0	.	337	Q8TE60	ATS18_HUMAN	H	337	ENSP00000282849:D337H	ENSP00000282849:D337H	D	-	1	0	ADAMTS18	75955247	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.569000	0.53827	2.708000	0.92522	0.650000	0.86243	GAC	ADAMTS18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.378	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	C			77397746	-1	no_errors	ENST00000282849	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS20	80070	genome.wustl.edu	37	12	43944892	43944892	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:43944892C>T	ENST00000389420.3	-	2	272	c.273G>A	c.(271-273)ctG>ctA	p.L91L	ADAMTS20_ENST00000553158.1_Silent_p.L91L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	91					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGTCAGGTTCAGCTGGAAGA	0.672																																																	0													60.0	62.0	61.0					12																	43944892		2203	4300	6503	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.273G>A	12.37:g.43944892C>T			A6NNC9|J3QT00	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L91	ENST00000389420.3	37	c.273	CCDS31778.2	12																																																																																			ADAMTS20	-	pfam_Peptidase_M12B_N		0.672	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43944892	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	silent	SNP	1.000	T
ADAMTS4	9507	genome.wustl.edu	37	1	161165346	161165346	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:161165346G>A	ENST00000367996.5	-	4	1598	c.1170C>T	c.(1168-1170)gtC>gtT	p.V390V	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	390	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CAGGGGCCATGACATGGCGAG	0.552																																																	0													184.0	156.0	165.0					1																	161165346		2203	4300	6503	SO:0001819	synonymous_variant	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1170C>T	1.37:g.161165346G>A			Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V390	ENST00000367996.5	37	c.1170	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.552	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	G	NM_005099		161165346	-1	no_errors	ENST00000367996	ensembl	human	known	70_37	silent	SNP	1.000	A
ADAMTS6	11174	genome.wustl.edu	37	5	64766649	64766649	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:64766649G>C	ENST00000536360.1	-	3	1231	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	140						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTACTACGTTGATCTTGCAAA	0.353																																																	0													88.0	85.0	86.0					5																	64766649		2203	4300	6503	SO:0001583	missense	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.418C>G	5.37:g.64766649G>C	ENSP00000440995:p.Gln140Glu		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q140E	ENST00000536360.1	37	c.418		5	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960779	0.34565	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.04809	3.55;3.55;3.55	5.78	5.78	0.91487	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	L	0.46670	1.46	0.80722	D	1	P	0.38223	0.623	B	0.42882	0.401	T	0.40905	-0.9538	10	0.11794	T	0.64	.	16.6056	0.84827	0.0:0.1299:0.8701:0.0	.	140	Q9UKP5	ATS6_HUMAN	E	140	ENSP00000370443:Q140E;ENSP00000423551:Q140E;ENSP00000440995:Q140E	ENSP00000261306:Q140E	Q	-	1	0	ADAMTS6	64802405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.084000	0.76866	2.894000	0.99253	0.591000	0.81541	CAA	ADAMTS6	-	pfam_Peptidase_M12B_N		0.353	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		G	NM_197941		64766649	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAMTSL1	92949	genome.wustl.edu	37	9	18639370	18639370	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:18639370G>T	ENST00000380548.4	+	7	1134	c.795G>T	c.(793-795)ctG>ctT	p.L265L	ADAMTSL1_ENST00000380566.4_Silent_p.L265L|ADAMTSL1_ENST00000276935.6_Silent_p.L265L|ADAMTSL1_ENST00000327883.7_Silent_p.L265L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	265						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGATACTGAGAATGGCTG	0.423																																																	0													65.0	67.0	66.0					9																	18639370		2203	4299	6502	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.795G>T	9.37:g.18639370G>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L265	ENST00000380548.4	37	c.795	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_ADAM_spacer1		0.423	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18639370	+1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	1.000	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150524268	150524268	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:150524268C>T	ENST00000271643.4	+	3	152				ADAMTSL4_ENST00000483335.1_3'UTR|ADAMTSL4_ENST00000369039.5_Intron|AL356356.1_ENST00000538795.1_3'UTR|ADAMTSL4_ENST00000369038.2_5'Flank|RP11-54A4.2_ENST00000442435.2_RNA|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Intron	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			cccacctactcaggaggctga	0.522																																																	0																																										SO:0001627	intron_variant	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-84-413C>T	1.37:g.150524268C>T			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	RNA	SNP	-	NULL	ENST00000271643.4	37	NULL	CCDS955.1	1																																																																																			ADAMTSL4	-	-		0.522	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding		C	NM_019032		150524268	+1	no_errors	ENST00000483335	ensembl	human	known	70_37	rna	SNP	0.022	T
ADAR	103	genome.wustl.edu	37	1	154561847	154561847	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:154561847G>A	ENST00000368474.4	-	9	2959	c.2760C>T	c.(2758-2760)atC>atT	p.I920I	ADAR_ENST00000368471.3_Silent_p.I625I|ADAR_ENST00000292205.5_Silent_p.I963I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	920	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCGCTCACCTGATGAAGCCTC	0.567																																																	0													83.0	73.0	76.0					1																	154561847		2203	4300	6503	SO:0001819	synonymous_variant	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2760C>T	1.37:g.154561847G>A			B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.I963	ENST00000368474.4	37	c.2889	CCDS1071.1	1																																																																																			ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.567	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	G	NM_001111		154561847	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	silent	SNP	1.000	A
ADCY3	109	genome.wustl.edu	37	2	25065203	25065203	+	Silent	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:25065203C>A	ENST00000260600.5	-	3	1727	c.876G>T	c.(874-876)ctG>ctT	p.L292L	ADCY3_ENST00000405392.1_5'Flank	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	292					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATGTCTTTCAGCATCTCGT	0.587																																																	0													212.0	168.0	183.0					2																	25065203		2203	4300	6503	SO:0001819	synonymous_variant	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.876G>T	2.37:g.25065203C>A			B3KT86|Q53T54|Q9UDB1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L292	ENST00000260600.5	37	c.876	CCDS1715.1	2																																																																																			ADCY3	-	smart_A/G_cyclase		0.587	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	C			25065203	-1	no_errors	ENST00000260600	ensembl	human	known	70_37	silent	SNP	0.997	A
ADH5	128	genome.wustl.edu	37	4	99993741	99993741	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:99993741C>T	ENST00000296412.8	-	8	1133	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L		NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		CAGAATGCATCAGTTCAAAGG	0.338																																																	0													70.0	68.0	68.0					4																	99993741		1843	4073	5916	SO:0001819	synonymous_variant	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.1083G>A	4.37:g.99993741C>T				Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3	p.L361	ENST00000296412.8	37	c.1083	CCDS47111.1	4																																																																																			ADH5	-	superfamily_GroES-like,tigrfam_ADH_3		0.338	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH5	HGNC	protein_coding	OTTHUMT00000364224.1	C	NM_000671		99993741	-1	no_errors	ENST00000296412	ensembl	human	known	70_37	silent	SNP	0.955	T
ADK	132	genome.wustl.edu	37	10	76429981	76429981	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:76429981G>A	ENST00000286621.2	+	10	968	c.918G>A	c.(916-918)caG>caA	p.Q306Q	ADK_ENST00000372734.3_Silent_p.Q289Q|ADK_ENST00000541550.1_Silent_p.Q271Q|ADK_ENST00000539909.1_Silent_p.Q249Q	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	306					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	ATCAAGACCAGAAAGAAATTA	0.363																																																	0													119.0	111.0	113.0					10																	76429981		2203	4300	6503	SO:0001819	synonymous_variant	132			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.918G>A	10.37:g.76429981G>A			B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Silent	SNP	pfam_PfkB,prints_Adenokinase	p.Q306	ENST00000286621.2	37	c.918	CCDS7343.1	10																																																																																			ADK	-	pfam_PfkB		0.363	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADK	HGNC	protein_coding	OTTHUMT00000048763.1	G	NM_001123, NM_006721		76429981	+1	no_errors	ENST00000286621	ensembl	human	known	70_37	silent	SNP	1.000	A
AFAP1	60312	genome.wustl.edu	37	4	7873716	7873716	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:7873716C>T	ENST00000360265.4	-	1	324	c.90G>A	c.(88-90)gtG>gtA	p.V30V	AFAP1_ENST00000420658.1_Silent_p.V30V|AFAP1_ENST00000382543.3_Silent_p.V30V|AFAP1_ENST00000358461.2_Silent_p.V30V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGTTGGTTATCACTGCCTTTT	0.408																																																	0													282.0	248.0	259.0					4																	7873716		2203	4300	6503	SO:0001819	synonymous_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.90G>A	4.37:g.7873716C>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V30	ENST00000360265.4	37	c.90	CCDS3397.1	4																																																																																			AFAP1	-	NULL		0.408	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	C	NM_021638		7873716	-1	no_errors	ENST00000420658	ensembl	human	known	70_37	silent	SNP	0.001	T
AFF3	3899	genome.wustl.edu	37	2	100210165	100210165	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:100210165C>T	ENST00000409236.2	-	13	2070	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	AFF3_ENST00000356421.2_Missense_Mutation_p.R678Q|AFF3_ENST00000317233.4_Missense_Mutation_p.R653Q|AFF3_ENST00000409579.1_Missense_Mutation_p.R678Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	653					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTTAGCCCCCGCGTGCGGCG	0.632																																																	0													61.0	66.0	64.0					2																	100210165		2203	4299	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1958G>A	2.37:g.100210165C>T	ENSP00000387207:p.Arg653Gln		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R678Q	ENST00000409236.2	37	c.2033	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074938	0.76415	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.17	5.17	0.71159	.	0.086860	0.45867	D	0.000326	T	0.81192	0.4771	M	0.72353	2.195	0.35907	D	0.830827	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.934	D	0.83467	0.0057	10	0.35671	T	0.21	.	18.6597	0.91468	0.0:1.0:0.0:0.0	.	806;653;678	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Q	653;678;678;653;653;806;678	ENSP00000317421:R653Q;ENSP00000348793:R678Q;ENSP00000386834:R678Q;ENSP00000387207:R653Q	ENSP00000317421:R653Q	R	-	2	0	AFF3	99576597	0.286000	0.24305	0.977000	0.42913	0.753000	0.42808	3.017000	0.49615	2.426000	0.82243	0.561000	0.74099	CGG	AFF3	-	pfam_TF_AF4/FMR2		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100210165	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	0.990	T
AGL	178	genome.wustl.edu	37	1	100340197	100340197	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:100340197C>G	ENST00000294724.4	+	8	1436				AGL_ENST00000361302.3_Intron|AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361915.3_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000370161.2_Intron|AGL_ENST00000361522.4_Intron|AGL_ENST00000370163.3_Intron	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTTATAATCTCTTTGTAGATA	0.318																																																	0													27.0	26.0	26.0					1																	100340197		2202	4297	6499	SO:0001627	intron_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.959-46C>G	1.37:g.100340197C>G			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	RNA	SNP	-	NULL	ENST00000294724.4	37	NULL	CCDS759.1	1																																																																																			AGL	-	-		0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	C	NM_000028		100340197	+1	no_errors	ENST00000477753	ensembl	human	known	70_37	rna	SNP	0.001	G
AGPAT3	56894	genome.wustl.edu	37	21	45374797	45374797	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:45374797C>G	ENST00000398058.1	+	0	552				AGPAT3_ENST00000291572.8_Intron|AGPAT3_ENST00000327505.2_Intron|AGPAT3_ENST00000546158.1_5'UTR|AGPAT3_ENST00000398063.2_Intron|AGPAT3_ENST00000398061.1_Intron			Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3						CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGTAGACTTTCTAGCCCAGAG	0.597																																					Pancreas(60;623 1650 5574 52796)												0																																										SO:0001623	5_prime_UTR_variant	56894			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398058.1:c.-375C>G	21.37:g.45374797C>G			D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	RNA	SNP	-	NULL	ENST00000398058.1	37	NULL	CCDS13703.1	21																																																																																			AGPAT3	-	-		0.597	AGPAT3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGPAT3	HGNC	protein_coding	OTTHUMT00000195723.1	C	NM_020132		45374797	+1	no_errors	ENST00000497909	ensembl	human	known	70_37	rna	SNP	0.001	G
AGTPBP1	23287	genome.wustl.edu	37	9	88307683	88307683	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:88307683C>T	ENST00000357081.3	-	3	222	c.78G>A	c.(76-78)gaG>gaA	p.E26E	AGTPBP1_ENST00000376080.1_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000376083.3_Silent_p.E26E|AGTPBP1_ENST00000376109.3_Silent_p.E78E|AGTPBP1_ENST00000376081.4_Silent_p.E26E			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	26					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CATTGATCTTCTCCAGTTGAG	0.388																																																	0													126.0	110.0	115.0					9																	88307683		2203	4300	6503	SO:0001819	synonymous_variant	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.78G>A	9.37:g.88307683C>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.E78	ENST00000357081.3	37	c.234		9																																																																																			AGTPBP1	-	NULL		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	C	NM_015239		88307683	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	silent	SNP	1.000	T
AHNAK	79026	genome.wustl.edu	37	11	62284969	62284969	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:62284969C>T	ENST00000378024.4	-	5	17194	c.16920G>A	c.(16918-16920)ctG>ctA	p.L5640L	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5640	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGACACACTCAGCCCAGGAG	0.502																																																	0													83.0	94.0	90.0					11																	62284969		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16920G>A	11.37:g.62284969C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L5640	ENST00000378024.4	37	c.16920	CCDS31584.1	11																																																																																			AHNAK	-	NULL		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62284969	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	silent	SNP	0.181	T
AHNAK	79026	genome.wustl.edu	37	11	62297007	62297007	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:62297007C>G	ENST00000378024.4	-	5	5156	c.4882G>C	c.(4882-4884)Gat>Cat	p.D1628H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1628					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTCAATATCAATATCACCA	0.458																																																	0													101.0	109.0	106.0					11																	62297007		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4882G>C	11.37:g.62297007C>G	ENSP00000367263:p.Asp1628His		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1628H	ENST00000378024.4	37	c.4882	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	N	7.272	0.607327	0.14002	.	.	ENSG00000124942	ENST00000378024	T	0.01998	4.51	3.91	2.99	0.34606	.	.	.	.	.	T	0.10937	0.0267	M	0.92219	3.285	0.29182	N	0.876411	D	0.56287	0.975	P	0.53062	0.717	T	0.04053	-1.0981	9	0.72032	D	0.01	.	9.246	0.37527	0.0:0.8155:0.0:0.1845	.	1628	Q09666	AHNK_HUMAN	H	1628	ENSP00000367263:D1628H	ENSP00000367263:D1628H	D	-	1	0	AHNAK	62053583	0.819000	0.29175	0.768000	0.31515	0.008000	0.06430	1.369000	0.34227	0.776000	0.33473	-1.051000	0.02340	GAT	AHNAK	-	NULL		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62297007	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.949	G
AIMP2	7965	genome.wustl.edu	37	7	6054795	6054795	+	Missense_Mutation	SNP	C	C	G	rs368275022		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:6054795C>G	ENST00000223029.3	+	2	273	c.154C>G	c.(154-156)Ctg>Gtg	p.L52V	AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_5'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	52					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAACCTGTCTCTGCAAGCTCT	0.418																																																	0													181.0	180.0	180.0					7																	6054795		2203	4300	6503	SO:0001583	missense	7965			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.154C>G	7.37:g.6054795C>G	ENSP00000223029:p.Leu52Val		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.L52V	ENST00000223029.3	37	c.154	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765024	0.15914	.	.	ENSG00000106305	ENST00000223029	T	0.32272	1.46	5.26	3.44	0.39384	.	0.125660	0.53938	D	0.000046	T	0.22627	0.0546	L	0.48362	1.52	0.80722	D	1	B	0.23185	0.081	B	0.24848	0.056	T	0.05550	-1.0878	10	0.16896	T	0.51	-15.8531	6.0119	0.19580	0.1519:0.6903:0.0:0.1578	.	52	Q13155	AIMP2_HUMAN	V	52	ENSP00000223029:L52V	ENSP00000223029:L52V	L	+	1	2	AIMP2	6021321	0.996000	0.38824	0.789000	0.31954	0.909000	0.53808	3.182000	0.50910	0.593000	0.29745	-0.142000	0.14014	CTG	AIMP2	-	NULL		0.418	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	C	NM_006303		6054795	+1	no_errors	ENST00000223029	ensembl	human	known	70_37	missense	SNP	0.976	G
AK9	221264	genome.wustl.edu	37	6	109940391	109940391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:109940391C>A	ENST00000424296.2	-	13	1379	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	AK9_ENST00000368948.2_Nonsense_Mutation_p.E435*|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	435					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ACTAATGTTTCACGGGCTTTA	0.403																																																	0													209.0	157.0	173.0					6																	109940391		692	1591	2283	SO:0001587	stop_gained	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1303G>T	6.37:g.109940391C>A	ENSP00000410186:p.Glu435*		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E435*	ENST00000424296.2	37	c.1303	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.251495	0.97412	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	.	.	.	4.93	3.13	0.36017	.	0.371785	0.27917	N	0.017326	.	.	.	.	.	.	0.48452	D	0.999659	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2232	6.2893	0.21051	0.0:0.7127:0.1889:0.0985	.	.	.	.	X	435	.	.	E	-	1	0	AKD1	110047084	0.819000	0.29175	0.847000	0.33407	0.439000	0.31926	1.292000	0.33342	1.421000	0.47157	0.650000	0.86243	GAA	AKD1	-	NULL		0.403	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109940391	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	nonsense	SNP	0.558	A
AKR1B1	231	genome.wustl.edu	37	7	134133207	134133207	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:134133207G>C	ENST00000285930.4	-	6	670	c.591C>G	c.(589-591)atC>atG	p.I197M	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	197					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GGCAGTACTGGATTAACTTCT	0.552																																																	0													109.0	104.0	105.0					7																	134133207		2203	4300	6503	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.591C>G	7.37:g.134133207G>C	ENSP00000285930:p.Ile197Met		B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.I197M	ENST00000285930.4	37	c.591	CCDS5831.1	7	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353537	0.61293	.	.	ENSG00000085662	ENST00000285930	T	0.26067	1.76	5.03	0.749	0.18381	NADP-dependent oxidoreductase domain (3);	0.190605	0.56097	D	0.000037	T	0.36413	0.0966	M	0.64676	1.99	0.53005	D	0.999962	P	0.48640	0.913	D	0.64595	0.927	T	0.20874	-1.0262	10	0.62326	D	0.03	.	1.6476	0.02765	0.2336:0.2543:0.3823:0.1298	.	197	P15121	ALDR_HUMAN	M	197	ENSP00000285930:I197M	ENSP00000285930:I197M	I	-	3	3	AKR1B1	133783747	0.991000	0.36638	0.741000	0.31004	0.952000	0.60782	0.608000	0.24223	0.218000	0.20820	0.561000	0.74099	ATC	AKR1B1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.552	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B1	HGNC	protein_coding	OTTHUMT00000339448.2	G	NM_001628		134133207	-1	no_errors	ENST00000285930	ensembl	human	known	70_37	missense	SNP	0.987	C
AKR1C1	1645	genome.wustl.edu	37	10	5014915	5014915	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:5014915G>C	ENST00000380872.4	+	7	1012	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.E274Q	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	274					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.E274K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GAGCTACAATGAGCAGCGCAT	0.582																																					Colon(130;2054 2316 13360 15380)												1	Substitution - Missense(1)	breast(1)											58.0	52.0	54.0					10																	5014915		2202	4298	6500	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.820G>C	10.37:g.5014915G>C	ENSP00000370254:p.Glu274Gln		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E274Q	ENST00000380872.4	37	c.820	CCDS7061.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.460|6.460	0.452941|0.452941	0.12283|0.12283	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000434459;ENST00000380872|ENST00000442997	T;T|.	0.51574|.	0.7;0.7|.	1.98|1.98	0.0689|0.0689	0.14371|0.14371	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);|.	0.447919|.	0.20468|.	N|.	0.091750|.	T|T	0.22936|0.22936	0.0554|0.0554	L|L	0.31065|0.31065	0.9|0.9	0.19945|0.19945	N|N	0.999944|0.999944	B|.	0.26120|.	0.142|.	B|.	0.28465|.	0.09|.	T|T	0.24584|0.24584	-1.0156|-1.0156	10|5	0.49607|.	T|.	0.09|.	.|.	3.0759|3.0759	0.06246|0.06246	0.2807:0.2377:0.4815:0.0|0.2807:0.2377:0.4815:0.0	.|.	274|.	Q04828|.	AK1C1_HUMAN|.	Q|I	274|240	ENSP00000412248:E274Q;ENSP00000370254:E274Q|.	ENSP00000370254:E274Q|.	E|M	+|+	1|3	0|0	AKR1C1|AKR1C1	5004915|5004915	0.113000|0.113000	0.22115|0.22115	0.145000|0.145000	0.22337|0.22337	0.541000|0.541000	0.35023|0.35023	1.990000|1.990000	0.40717|0.40717	0.010000|0.010000	0.14839|0.14839	0.313000|0.313000	0.20887|0.20887	GAG|ATG	AKR1C1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.582	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C1	HGNC	protein_coding	OTTHUMT00000046523.2	G	NM_001353		5014915	+1	no_errors	ENST00000380872	ensembl	human	known	70_37	missense	SNP	0.331	C
AKR1CL1	340811	genome.wustl.edu	37	10	5203902	5203902	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:5203902G>A	ENST00000334314.3	-	3	371	c.295C>T	c.(295-297)Cac>Tac	p.H99Y	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	99						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGGGCCGGGTGAACCAATTCT	0.388																																					Ovarian(129;1623 1737 25446 28757 47467)												0													56.0	56.0	56.0					10																	5203902		2203	4300	6503	SO:0001583	missense	340811					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.295C>T	10.37:g.5203902G>A	ENSP00000334626:p.His99Tyr		A6NF66|Q6ZN81	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.H99Y	ENST00000334314.3	37	c.295		10	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035459	0.19590	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.24151	1.87;1.87	2.99	0.882	0.19172	.	0.144057	0.29861	U	0.011005	T	0.27967	0.0689	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14476	-1.0471	7	0.87932	D	0	.	7.9824	0.30192	0.0:0.0:0.5751:0.4249	.	.	.	.	Y	99	ENSP00000417935:H99Y;ENSP00000334626:H99Y	ENSP00000334626:H99Y	H	-	1	0	AKR1CL1	5193902	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.122000	0.31295	0.062000	0.16340	0.313000	0.20887	CAC	AKR1CL1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.388	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		G	NR_027916		5203902	-1	no_errors	ENST00000334314	ensembl	human	known	70_37	missense	SNP	0.035	A
AKR1D1	6718	genome.wustl.edu	37	7	137790151	137790151	+	Silent	SNP	C	C	G	rs545816543		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:137790151C>G	ENST00000242375.3	+	5	597	c.555C>G	c.(553-555)ctC>ctG	p.L185L	AKR1D1_ENST00000432161.1_Silent_p.L185L|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	185					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	AGCCAGGACTCAAACACAAGC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		14344	0.0		0.0	False		,,,				2504	0.001																0													114.0	117.0	116.0					7																	137790151		2203	4300	6503	SO:0001819	synonymous_variant	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.555C>G	7.37:g.137790151C>G			A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L185	ENST00000242375.3	37	c.555	CCDS5846.1	7																																																																																			AKR1D1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.537	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	C	NM_005989		137790151	+1	no_errors	ENST00000242375	ensembl	human	known	70_37	silent	SNP	0.998	G
ALDH1A2	8854	genome.wustl.edu	37	15	58287282	58287282	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:58287282G>T	ENST00000249750.4	-	5	1316	c.549C>A	c.(547-549)atC>atA	p.I183I	ALDH1A2_ENST00000559517.1_Silent_p.I87I|ALDH1A2_ENST00000537372.1_Silent_p.I162I|ALDH1A2_ENST00000558231.1_Silent_p.I154I|ALDH1A2_ENST00000347587.3_Silent_p.I183I	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	183					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCACTGGGATGATCTGTCCAC	0.403																																																	0													162.0	153.0	156.0					15																	58287282		2192	4292	6484	SO:0001819	synonymous_variant	8854			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.549C>A	15.37:g.58287282G>T			B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I183	ENST00000249750.4	37	c.549	CCDS10163.1	15																																																																																			ALDH1A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.403	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	G			58287282	-1	no_errors	ENST00000249750	ensembl	human	known	70_37	silent	SNP	1.000	T
ALS2CL	259173	genome.wustl.edu	37	3	46713023	46713023	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:46713023G>A	ENST00000318962.4	-	25	2819	c.2736C>T	c.(2734-2736)ccC>ccT	p.P912P	ALS2CL_ENST00000415953.1_Silent_p.P912P|ALS2CL_ENST00000383742.3_Silent_p.P259P	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	912	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGTGTGGTTGGGGTCCATCA	0.612																																																	0													99.0	88.0	92.0					3																	46713023		2203	4300	6503	SO:0001819	synonymous_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2736C>T	3.37:g.46713023G>A			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.P912	ENST00000318962.4	37	c.2736	CCDS2743.1	3																																																																																			ALS2CL	-	pfam_VPS9,pfscan_VPS9		0.612	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	G	NM_147129		46713023	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	silent	SNP	0.003	A
ANGPT4	51378	genome.wustl.edu	37	20	855045	855045	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:855045G>T	ENST00000381922.3	-	8	1335	c.1233C>A	c.(1231-1233)gtC>gtA	p.V411V	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	411	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CGCTGTACCCGACCACAGAAA	0.607																																					Pancreas(181;481 2077 3259 31286 49856)												0													65.0	59.0	61.0					20																	855045		2203	4300	6503	SO:0001819	synonymous_variant	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1233C>A	20.37:g.855045G>T			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.V411	ENST00000381922.3	37	c.1233	CCDS13009.1	20																																																																																			ANGPT4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	G	NM_015985		855045	-1	no_errors	ENST00000381922	ensembl	human	known	70_37	silent	SNP	0.000	T
ANK2	287	genome.wustl.edu	37	4	114254283	114254283	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:114254283G>C	ENST00000357077.4	+	29	3351	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	ANK2_ENST00000394537.3_Missense_Mutation_p.E1100Q|ANK2_ENST00000264366.6_Missense_Mutation_p.E1067Q|ANK2_ENST00000509550.1_Missense_Mutation_p.E276Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E1091Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1100	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTGCGCAGTGAGAATGGGGA	0.478																																																	0													178.0	165.0	169.0					4																	114254283		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3298G>C	4.37:g.114254283G>C	ENSP00000349588:p.Glu1100Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E1100Q	ENST00000357077.4	37	c.3298	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.813797|3.813797	0.70912|0.70912	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.38887|.	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11|.	5.33|5.33	5.33|5.33	0.75918|0.75918	ZU5 (3);|.	0.000000|.	0.51477|.	D|.	0.000081|.	T|.	0.60209|.	0.2251|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P;P|.	0.52577|.	0.943;0.954;0.851;0.931;0.938;0.708;0.908|.	B;P;B;P;D;B;D|.	0.64144|.	0.411;0.713;0.291;0.747;0.91;0.331;0.922|.	T|.	0.53989|.	-0.8360|.	10|.	0.87932|.	D|.	0|.	.|.	19.3667|19.3667	0.94466|0.94466	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	276;1067;112;1100;1100;1091;1091|.	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;ANK2_HUMAN;.;.;.;.;.|.	Q|S	1079;1013;1091;146;1115;1100;1100;1067;1091;276|112	ENSP00000423799:E1079Q;ENSP00000421011:E1013Q;ENSP00000421067:E1091Q;ENSP00000424722:E1115Q;ENSP00000378044:E1100Q;ENSP00000349588:E1100Q;ENSP00000264366:E1067Q;ENSP00000426944:E276Q|.	ENSP00000264366:E1067Q|.	E|X	+|+	1|2	0|2	ANK2|ANK2	114473732|114473732	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	7.890000|7.890000	0.87313|0.87313	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GAG|TGA	ANK2	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114254283	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114274497	114274497	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:114274497G>A	ENST00000357077.4	+	38	4776	c.4723G>A	c.(4723-4725)Gaa>Aaa	p.E1575K	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1542K|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1575					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAAGAGATGAAAGCAGTGT	0.443																																																	0													77.0	82.0	80.0					4																	114274497		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4723G>A	4.37:g.114274497G>A	ENSP00000349588:p.Glu1575Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E1575K	ENST00000357077.4	37	c.4723	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	1.176	-0.639493	0.03557	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.66280	0.11;-0.03;-0.2;-0.19	5.35	5.35	0.76521	.	0.101878	0.42682	D	0.000663	T	0.44414	0.1292	N	0.15975	0.35	0.58432	D	0.999997	B;B	0.10296	0.001;0.003	B;B	0.15052	0.004;0.012	T	0.32929	-0.9888	10	0.23891	T	0.37	.	13.3813	0.60768	0.0752:0.0:0.9248:0.0	.	1542;1575	Q01484;Q01484-4	ANK2_HUMAN;.	K	1488;1590;1575;1542	ENSP00000421011:E1488K;ENSP00000424722:E1590K;ENSP00000349588:E1575K;ENSP00000264366:E1542K	ENSP00000264366:E1542K	E	+	1	0	ANK2	114493946	0.022000	0.18835	0.044000	0.18714	0.218000	0.24690	1.402000	0.34600	2.500000	0.84329	0.650000	0.86243	GAA	ANK2	-	NULL		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114274497	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.418	A
ANKRD12	23253	genome.wustl.edu	37	18	9255252	9255252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:9255252G>T	ENST00000262126.4	+	9	2227	c.1987G>T	c.(1987-1989)Gaa>Taa	p.E663*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E640*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E640*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	663						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						gagggaaaaagaaaagcataa	0.299																																																	0													42.0	47.0	45.0					18																	9255252		2192	4281	6473	SO:0001587	stop_gained	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1987G>T	18.37:g.9255252G>T	ENSP00000262126:p.Glu663*		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E663*	ENST00000262126.4	37	c.1987	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.724038	0.97792	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	.	.	.	5.06	5.06	0.68205	.	0.119181	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.1496	18.7884	0.91964	0.0:0.0:1.0:0.0	.	.	.	.	X	640;663;370	.	ENSP00000262126:E663X	E	+	1	0	ANKRD12	9245252	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.311000	0.96282	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255252	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ANKRD12	23253	genome.wustl.edu	37	18	9255426	9255426	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:9255426G>C	ENST00000262126.4	+	9	2401	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E698Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E698Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	721						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTAACATTAGAAAAAAAATC	0.289																																																	0													28.0	30.0	29.0					18																	9255426		2143	4226	6369	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2161G>C	18.37:g.9255426G>C	ENSP00000262126:p.Glu721Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E721Q	ENST00000262126.4	37	c.2161	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253554	0.39797	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.92397	-3.03;-3.03	5.06	5.06	0.68205	.	0.331509	0.30528	N	0.009436	D	0.94640	0.8272	L	0.57536	1.79	0.36889	D	0.889782	D;D;P	0.76494	0.999;0.996;0.935	D;P;P	0.65443	0.935;0.892;0.575	D	0.94400	0.7622	10	0.29301	T	0.29	-14.4551	18.7884	0.91964	0.0:0.0:1.0:0.0	.	348;698;721	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	698;721;428;16	ENSP00000372932:E698Q;ENSP00000262126:E721Q	ENSP00000262126:E721Q	E	+	1	0	ANKRD12	9245426	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	5.303000	0.65738	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255426	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKRD12	23253	genome.wustl.edu	37	18	9256059	9256059	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:9256059G>C	ENST00000262126.4	+	9	3034	c.2794G>C	c.(2794-2796)Gag>Cag	p.E932Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E909Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E909Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	932						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCACTTGATGGAGAAAAAAAA	0.328																																																	0													33.0	34.0	33.0					18																	9256059		2190	4282	6472	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2794G>C	18.37:g.9256059G>C	ENSP00000262126:p.Glu932Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E932Q	ENST00000262126.4	37	c.2794	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	12.91	2.077994	0.36662	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.35605	1.3;1.3	5.18	5.18	0.71444	.	0.229913	0.43919	D	0.000505	T	0.32376	0.0827	L	0.27053	0.805	0.29137	N	0.879254	P;P	0.39216	0.664;0.534	B;B	0.41036	0.346;0.188	T	0.13469	-1.0508	10	0.31617	T	0.26	-20.3727	18.6869	0.91568	0.0:0.0:1.0:0.0	.	909;932	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	Q	909;932	ENSP00000372932:E909Q;ENSP00000262126:E932Q	ENSP00000262126:E932Q	E	+	1	0	ANKRD12	9246059	1.000000	0.71417	0.980000	0.43619	0.983000	0.72400	6.334000	0.72944	2.408000	0.81797	0.557000	0.71058	GAG	ANKRD12	-	NULL		0.328	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9256059	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	0.618	C
ANKRD19P	138649	genome.wustl.edu	37	9	95571763	95571763	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:95571763C>T	ENST00000473204.1	+	0	94							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TGAGCTACATCGCGGGTTTGG	0.627																																																	0																																												138649			BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95571763C>T			A8K853|Q17RD3	RNA	SNP	-	NULL	ENST00000473204.1	37	NULL		9																																																																																			ANKRD19P	-	-		0.627	ANKRD19P-004	KNOWN	basic	processed_transcript	ANKRD19P	HGNC	pseudogene	OTTHUMT00000053116.3	C	NR_026868		95571763	+1	no_errors	ENST00000473204	ensembl	human	known	70_37	rna	SNP	0.987	T
ANKRD20A11P	391267	genome.wustl.edu	37	21	15282846	15282846	+	IGR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:15282846G>C								CYP4F29P (62161 upstream) : ANKRD20A11P (33243 downstream)																							AAATAGATGGGAGCAAGTGTC	0.308																																																	0																																										SO:0001628	intergenic_variant	391267																															21.37:g.15282846G>C				RNA	SNP	-	NULL		37	NULL		21																																																																																			ANKRD20A11P	-	-	0	0.308					ANKRD20A11P	HGNC			G			15282846	-1	no_errors	ENST00000442192	ensembl	human	known	70_37	rna	SNP	0.001	C
ANKRD20A5P	440482	genome.wustl.edu	37	18	14183964	14183964	+	RNA	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:14183964C>G	ENST00000581935.1	+	0	653							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TGCCGTTATTCTGCTGGAACA	0.448																																																	0													75.0	76.0	76.0					18																	14183964		2198	4288	6486			440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183964C>G			Q4G1B6	RNA	SNP	-	NULL	ENST00000581935.1	37	NULL		18																																																																																			ANKRD20A5P	-	-		0.448	ANKRD20A5P-002	KNOWN	basic	processed_transcript	ANKRD20A5P	HGNC	pseudogene	OTTHUMT00000442833.1	C			14183964	+1	no_errors	ENST00000581181	ensembl	human	known	70_37	rna	SNP	0.971	G
ANKRD20A5P	440482	genome.wustl.edu	37	18	14225685	14225685	+	IGR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:14225685G>C								RNU6-316P (34880 upstream) : RP11-757O6.1 (18938 downstream)																							CGTAAGACAAGAGATACTCTC	0.348																																																	0																																										SO:0001628	intergenic_variant	440482																															18.37:g.14225685G>C				RNA	SNP	-	NULL		37	NULL		18																																																																																			ANKRD20A5P	-	-	0	0.348					ANKRD20A5P	HGNC			G			14225685	+1	no_errors	ENST00000577614	ensembl	human	known	70_37	rna	SNP	0.252	C
ANKRD20A8P	729171	genome.wustl.edu	37	2	95522897	95522897	+	RNA	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:95522897G>A	ENST00000432432.2	-	0	130					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TGCGGCTCCCGAAGCCGAATA	0.627																																																	0																																												729171					2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522897G>A			A6NC18	RNA	SNP	-	NULL	ENST00000432432.2	37	NULL		2																																																																																			ANKRD20A8P	-	-		0.627	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	HGNC	pseudogene	OTTHUMT00000451404.1	G			95522897	-1	no_errors	ENST00000432432	ensembl	human	known	70_37	rna	SNP	0.044	A
ANKRD26	22852	genome.wustl.edu	37	10	27302020	27302020	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:27302020C>T	ENST00000376087.4	-	32	4909	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1139K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1598K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1581					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTGTTGACCTCTGCTAGCCTC	0.408																																																	0													87.0	86.0	86.0					10																	27302020		1908	4121	6029	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4744G>A	10.37:g.27302020C>T	ENSP00000365255:p.Glu1582Lys		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E1598K	ENST00000376087.4	37	c.4792	CCDS41499.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632375|4.632375	0.87660|0.87660	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985|ENST00000445828	T;T;T|.	0.36340|.	1.26;1.26;1.26|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|.	.|.	.|.	.|.	T|T	0.58337|0.58337	0.2115|0.2115	M|M	0.71036|0.71036	2.16|2.16	0.09310|0.09310	N|N	0.999996|0.999996	D;D;D|.	0.76494|.	0.982;0.986;0.999|.	P;P;D|.	0.77004|.	0.767;0.85;0.989|.	T|T	0.52230|0.52230	-0.8603|-0.8603	9|5	0.66056|.	D|.	0.02|.	.|.	12.8801|12.8801	0.58012|0.58012	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1582;1581;1598|.	Q9UPS8-3;Q9UPS8;A1L497|.	.;ANR26_HUMAN;.|.	K|K	1139;1582;1598|69	ENSP00000365238:E1139K;ENSP00000365255:E1582K;ENSP00000405112:E1598K|.	ENSP00000365238:E1139K|.	E|R	-|-	1|2	0|0	ANKRD26|ANKRD26	27342026|27342026	1.000000|1.000000	0.71417|0.71417	0.018000|0.018000	0.16275|0.16275	0.798000|0.798000	0.45092|0.45092	3.533000|3.533000	0.53561|0.53561	2.102000|2.102000	0.63906|0.63906	0.313000|0.313000	0.20887|0.20887	GAG|AGA	ANKRD26	-	pfam_DUF3496		0.408	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27302020	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	missense	SNP	0.170	T
ANKRD28	23243	genome.wustl.edu	37	3	15712019	15712019	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:15712019C>T	ENST00000399451.2	-	28	3287	c.2920G>A	c.(2920-2922)Gat>Aat	p.D974N	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D1007N	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	974						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCCAGGCAATCAGCCACATCC	0.408																																																	0													109.0	106.0	107.0					3																	15712019		1957	4153	6110	SO:0001583	missense	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2920G>A	3.37:g.15712019C>T	ENSP00000382379:p.Asp974Asn		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1007N	ENST00000399451.2	37	c.3019	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736341	0.89482	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.28895	2.36;1.59;2.36	5.65	5.65	0.86999	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	L	0.31526	0.94	0.80722	D	1	B;B	0.32324	0.141;0.364	B;B	0.39465	0.046;0.3	T	0.10683	-1.0619	10	0.56958	D	0.05	.	19.7241	0.96154	0.0:1.0:0.0:0.0	.	54;974	B4DS25;O15084	.;ANR28_HUMAN	N	974;1007;974	ENSP00000382379:D974N;ENSP00000373287:D1007N;ENSP00000397341:D974N	ENSP00000373287:D1007N	D	-	1	0	ANKRD28	15687023	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.818000	0.86416	2.668000	0.90789	0.655000	0.94253	GAT	ANKRD28	-	pfscan_Ankyrin_rpt-contain_dom		0.408	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	C	NM_015199		15712019	-1	no_errors	ENST00000383777	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKRD36BP2	645784	genome.wustl.edu	37	2	89102238	89102238	+	RNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:89102238G>C	ENST00000393525.3	+	0	2712									ankyrin repeat domain 36B pseudogene 2																		AGGTAGCTGTGAGACAGCTTT	0.308																																																	0																																												645784					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89102238G>C				RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-		0.308	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	G			89102238	+1	no_errors	ENST00000393525	ensembl	human	known	70_37	rna	SNP	0.095	C
ANKRD36BP2	645784	genome.wustl.edu	37	2	89102373	89102373	+	RNA	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:89102373G>A	ENST00000393525.3	+	0	2847									ankyrin repeat domain 36B pseudogene 2																		TAGACCAGATGAGAAGTCAAG	0.383																																																	0																																												645784					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89102373G>A				RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-		0.383	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	G			89102373	+1	no_errors	ENST00000393525	ensembl	human	known	70_37	rna	SNP	0.000	A
ANKRD62	342850	genome.wustl.edu	37	18	12094118	12094118	+	Silent	SNP	C	C	T	rs558742310		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:12094118C>T	ENST00000587848.2	+	1	267	c.102C>T	c.(100-102)gtC>gtT	p.V34V	ANKRD62_ENST00000314074.8_Silent_p.V20V			A6NC57	ANR62_HUMAN	ankyrin repeat domain 62	34										breast(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGTACCGAGTCCGGCAGAAGG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		11971	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	342850			BX648696	CCDS67439.1	18p11.21	2014-01-21			ENSG00000181626	ENSG00000181626		"""Ankyrin repeat domain containing"""	35241	protein-coding gene	gene with protein product							Standard	XM_003959949		Approved	DKFZp779B1634	uc031rhk.1	A6NC57	OTTHUMG00000180673	ENST00000587848.2:c.102C>T	18.37:g.12094118C>T				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V20	ENST00000587848.2	37	c.60		18																																																																																			ANKRD62	-	NULL		0.562	ANKRD62-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ANKRD62	HGNC	protein_coding	OTTHUMT00000452521.2	C	XM_001715728		12094118	+1	no_errors	ENST00000314074	ensembl	human	known	70_37	silent	SNP	0.000	T
ANO4	121601	genome.wustl.edu	37	12	101365090	101365090	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:101365090C>G	ENST00000392977.3	+	6	673	c.463C>G	c.(463-465)Cta>Gta	p.L155V	ANO4_ENST00000538618.1_Missense_Mutation_p.L321V|ANO4_ENST00000392979.3_Missense_Mutation_p.L120V|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	155					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCAGTCCTCTCTAATAAATAG	0.378										HNSCC(74;0.22)																																							0													126.0	120.0	122.0					12																	101365090		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.463C>G	12.37:g.101365090C>G	ENSP00000376703:p.Leu155Val		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.L155V	ENST00000392977.3	37	c.463		12	.	.	.	.	.	.	.	.	.	.	C	8.059	0.767686	0.15983	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.66815	-0.23;-0.23;-0.23	5.41	1.01	0.19927	.	0.220594	0.28796	N	0.014109	T	0.34395	0.0896	N	0.05441	-0.05	0.80722	D	1	B;B	0.16603	0.009;0.018	B;B	0.20955	0.007;0.032	T	0.27739	-1.0065	10	0.02654	T	1	.	4.9514	0.14015	0.1087:0.3505:0.4172:0.1236	.	155;120	Q32M45;Q32M45-2	ANO4_HUMAN;.	V	321;120;155	ENSP00000443751:L321V;ENSP00000376705:L120V;ENSP00000376703:L155V	ENSP00000376703:L155V	L	+	1	2	ANO4	99889221	0.743000	0.28239	1.000000	0.80357	0.996000	0.88848	-0.023000	0.12456	0.552000	0.29026	0.563000	0.77884	CTA	ANO4	-	NULL		0.378	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	C	NM_178826		101365090	+1	no_errors	ENST00000392977	ensembl	human	known	70_37	missense	SNP	0.924	G
ANXA11	311	genome.wustl.edu	37	10	81923864	81923864	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:81923864G>C	ENST00000438331.1	-	10	1376	c.894C>G	c.(892-894)atC>atG	p.I298M	ANXA11_ENST00000372231.3_Missense_Mutation_p.I298M|ANXA11_ENST00000537102.1_Missense_Mutation_p.I265M|ANXA11_ENST00000265447.4_Missense_Mutation_p.I298M|ANXA11_ENST00000535999.1_Missense_Mutation_p.I298M|ANXA11_ENST00000422982.3_Missense_Mutation_p.I298M|ANXA11_ENST00000360615.4_Missense_Mutation_p.I298M	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	298					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)			GGGAAGCGAGGATCTCAATCA	0.577																																																	0													157.0	132.0	140.0					10																	81923864		2203	4300	6503	SO:0001583	missense	311			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.894C>G	10.37:g.81923864G>C	ENSP00000398610:p.Ile298Met		B4DVE7	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.I298M	ENST00000438331.1	37	c.894	CCDS7364.1	10	.	.	.	.	.	.	.	.	.	.	.	18.22	3.576868	0.65878	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.47	5.47	0.80525	Annexin repeat, conserved site (1);	0.048394	0.85682	D	0.000000	T	0.45756	0.1358	M	0.93283	3.4	0.53005	D	0.999968	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.996	T	0.54682	-0.8257	10	0.87932	D	0	.	10.6211	0.45481	0.0876:0.0:0.9124:0.0	.	398;298;298	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	M	298;298;298;298;298;298;298;205;265	ENSP00000361305:I298M;ENSP00000404412:I298M;ENSP00000398610:I298M;ENSP00000353827:I298M;ENSP00000265447:I298M;ENSP00000441748:I298M;ENSP00000441400:I265M	ENSP00000265447:I298M	I	-	3	3	ANXA11	81913844	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.366000	0.44204	2.746000	0.94184	0.561000	0.74099	ATC	ANXA11	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	G	NM_145869		81923864	-1	no_errors	ENST00000265447	ensembl	human	known	70_37	missense	SNP	1.000	C
ANXA11	311	genome.wustl.edu	37	10	81926598	81926598	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:81926598G>A	ENST00000438331.1	-	8	1227				ANXA11_ENST00000372231.3_Intron|ANXA11_ENST00000537102.1_Intron|ANXA11_ENST00000265447.4_Intron|ANXA11_ENST00000535999.1_Intron|ANXA11_ENST00000422982.3_Intron|ANXA11_ENST00000360615.4_Intron	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11						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)			GGGCTGTGCTGAGCCCAGGAC	0.637																																																	0																																										SO:0001627	intron_variant	311			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.744+47C>T	10.37:g.81926598G>A			B4DVE7	RNA	SNP	-	NULL	ENST00000438331.1	37	NULL	CCDS7364.1	10																																																																																			ANXA11	-	-		0.637	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	G	NM_145869		81926598	-1	no_errors	ENST00000481805	ensembl	human	known	70_37	rna	SNP	0.003	A
AOC3	8639	genome.wustl.edu	37	17	41004143	41004143	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:41004143C>G	ENST00000308423.2	+	1	943	c.783C>G	c.(781-783)atC>atG	p.I261M	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	261					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCTGGACTATCCAGAAGGTGT	0.597																																					NSCLC(3;192 220 10664 11501 16477)												0													28.0	24.0	25.0					17																	41004143		2201	4295	6496	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.783C>G	17.37:g.41004143C>G	ENSP00000312326:p.Ile261Met		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.I261M	ENST00000308423.2	37	c.783	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277007	0.40294	.	.	ENSG00000131471	ENST00000308423	T	0.18338	2.22	4.82	1.29	0.21616	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.344001	0.27749	N	0.018019	T	0.27205	0.0667	M	0.63843	1.955	0.80722	D	1	D	0.56035	0.974	P	0.61658	0.892	T	0.03473	-1.1033	10	0.48119	T	0.1	.	4.1244	0.10121	0.0:0.2895:0.3477:0.3628	.	261	Q16853	AOC3_HUMAN	M	261	ENSP00000312326:I261M	ENSP00000312326:I261M	I	+	3	3	AOC3	38257669	0.010000	0.17322	0.998000	0.56505	0.890000	0.51754	-0.014000	0.12656	1.026000	0.39733	0.491000	0.48974	ATC	AOC3	-	pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg		0.597	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	C	NM_003734		41004143	+1	no_errors	ENST00000308423	ensembl	human	known	70_37	missense	SNP	0.950	G
AP1B1P1	23782	genome.wustl.edu	37	22	32528330	32528330	+	RNA	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:32528330C>G	ENST00000432373.1	+	0	405					NR_040114.1				adaptor-related protein complex 1, beta 1 subunit pseudogene 1																		TGGCAGCGCTCTCAGAAATCG	0.607																																																	0																																												23782					22q12.3	2010-09-29	2010-09-29	2010-09-29	ENSG00000234479	ENSG00000234479			297	pseudogene	pseudogene			"""adaptin, beta 1-like 1"""	ADTB1L1		10591208	Standard	NR_040114		Approved	dJ127L4.2	uc021woc.1		OTTHUMG00000030158		22.37:g.32528330C>G				RNA	SNP	-	NULL	ENST00000432373.1	37	NULL		22																																																																																			AP1B1P1	-	-		0.607	AP1B1P1-002	KNOWN	basic	processed_transcript	AP1B1P1	HGNC	pseudogene	OTTHUMT00000315707.1	C	NG_002625		32528330	+1	no_errors	ENST00000432373	ensembl	human	known	70_37	rna	SNP	1.000	G
AP1S2	8905	genome.wustl.edu	37	X	15870500	15870500	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:15870500C>G	ENST00000329235.2	-	2	391	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	AP1S2_ENST00000545766.1_Missense_Mutation_p.E92Q|AP1S2_ENST00000380291.1_Missense_Mutation_p.E50Q|AP1S2_ENST00000421527.2_Missense_Mutation_p.E92Q	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	50					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					TCTCGCCACTCAAGGAAGCTG	0.358																																																	0													87.0	71.0	77.0					X																	15870500		2203	4300	6503	SO:0001583	missense	8905			AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"""mental retardation, X-linked 59"", ""mental retardation, X-linked, syndromic 5"", ""Pettigrew X-linked mental retardation syndrome"""	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.148G>C	X.37:g.15870500C>G	ENSP00000328789:p.Glu50Gln		B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	p.E92Q	ENST00000329235.2	37	c.274	CCDS14173.1	X	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.5|21.5|21.5	4.165009|4.165009|4.165009	0.78339|0.78339|0.78339	.|.|.	.|.|.	ENSG00000182287|ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000450644|ENST00000452376	.|.|.	.|.|.	.|.|.	5.93|5.93|5.93	5.07|5.07|5.07	0.68467|0.68467|0.68467	Longin-like (1);AP complex, mu/sigma subunit (1);|.|.	0.057628|.|.	0.64402|.|.	D|.|.	0.000003|.|.	T|T|.	0.78799|0.78799|.	0.4340|0.4340|.	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;B;P|.|.	0.35628|.|.	0.319;0.131;0.441;0.339;0.339;0.513|.|.	B;B;B;B;B;B|.|.	0.42030|.|.	0.136;0.269;0.197;0.322;0.322;0.373|.|.	T|T|.	0.81376|0.81376|.	-0.0961|-0.0961|.	9|6|.	0.72032|0.87932|.	D|D|.	0.01|0|.	-16.5932|-16.5932|-16.5932	14.1877|14.1877|14.1877	0.65617|0.65617|0.65617	0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731	.|.|.	50;92;92;50;50;47|.|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.|.	.;.;.;.;AP1S2_HUMAN;.|.|.	Q|F|S	50;50;92;92;47|42|46	.|.|.	ENSP00000328789:E50Q|ENSP00000389474:L42F|.	E|L|X	-|-|-	1|3|2	0|2|2	AP1S2|AP1S2|AP1S2	15780421|15780421|15780421	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	1.258000|1.258000|1.258000	0.44101|0.44101|0.44101	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	GAG|TTG|TGA	AP1S2	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom		0.358	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S2	HGNC	protein_coding	OTTHUMT00000055893.1	C	NM_003916		15870500	-1	no_errors	ENST00000421527	ensembl	human	known	70_37	missense	SNP	1.000	G
AP3M1	26985	genome.wustl.edu	37	10	75896476	75896476	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:75896476C>T	ENST00000355264.4	-	3	670	c.359G>A	c.(358-360)gGa>gAa	p.G120E	AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000372745.1_Missense_Mutation_p.G120E	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	120					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CAGTGGAAATCCATTGTCTAA	0.358																																																	0													134.0	127.0	129.0					10																	75896476		2202	4300	6502	SO:0001583	missense	26985			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.359G>A	10.37:g.75896476C>T	ENSP00000347408:p.Gly120Glu		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.G120E	ENST00000355264.4	37	c.359	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.317780	0.95682	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	D;D	0.92048	-2.96;-2.96	5.74	5.74	0.90152	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98683	1.0693	10	0.87932	D	0	.	19.9185	0.97074	0.0:1.0:0.0:0.0	.	120	Q9Y2T2	AP3M1_HUMAN	E	120	ENSP00000347408:G120E;ENSP00000361831:G120E	ENSP00000347408:G120E	G	-	2	0	AP3M1	75566482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.711000	0.92665	0.561000	0.74099	GGA	AP3M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	C			75896476	-1	no_errors	ENST00000355264	ensembl	human	known	70_37	missense	SNP	1.000	T
AP4S1	11154	genome.wustl.edu	37	14	31549837	31549837	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:31549837C>G	ENST00000542754.2	+	5	699				AP4S1_ENST00000554345.1_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000334725.4_Missense_Mutation_p.S118C|AP4S1_ENST00000216366.4_Missense_Mutation_p.S118C|AP4S1_ENST00000313566.6_Intron	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit							coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		CAAATGCACTCTGGTCCTTAT	0.418																																					Pancreas(128;620 2365 4508 44145)												0													118.0	102.0	108.0					14																	31549837		2203	4300	6503	SO:0001627	intron_variant	11154			AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.306+47C>G	14.37:g.31549837C>G			G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.S118C	ENST00000542754.2	37	c.353	CCDS45093.1	14	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434512	0.43224	.	.	ENSG00000100478	ENST00000216366;ENST00000334725	.	.	.	5.0	-3.64	0.04515	.	2.800460	0.01333	N	0.011307	T	0.30479	0.0766	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.001	T	0.40831	-0.9542	9	0.59425	D	0.04	.	9.1623	0.37030	0.3141:0.2112:0.4747:0.0	.	118;118	Q86U36;Q9Y587-2	.;.	C	118	.	ENSP00000216366:S118C	S	+	2	0	AP4S1	30619588	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.268000	0.08607	-0.325000	0.08577	-0.955000	0.02649	TCT	AP4S1	-	pirsf_AP_complex_ssu		0.418	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AP4S1	HGNC	protein_coding	OTTHUMT00000409723.1	C			31549837	+1	no_errors	ENST00000216366	ensembl	human	known	70_37	missense	SNP	0.000	G
AP5B1	91056	genome.wustl.edu	37	11	65546592	65546592	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:65546592G>A	ENST00000532090.2	-	2	1582	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	458					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						AAGGCCCGGGGGCCCCCATCC	0.667																																																	0													8.0	11.0	10.0					11																	65546592		1879	4075	5954	SO:0001583	missense	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1372C>T	11.37:g.65546592G>A	ENSP00000454303:p.Pro458Ser		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.P458S	ENST00000532090.2	37	c.1372	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	G	NM_138368		65546592	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	missense	SNP	0.949	A
AP5B1	91056	genome.wustl.edu	37	11	65546749	65546749	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:65546749G>C	ENST00000532090.2	-	2	1425	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	405	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGTCATGCAGGAGACTGGGCA	0.642																																																	0													19.0	24.0	22.0					11																	65546749		2081	4203	6284	SO:0001819	synonymous_variant	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1215C>G	11.37:g.65546749G>C			A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	NULL	p.L405	ENST00000532090.2	37	c.1215	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.642	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	G	NM_138368		65546749	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	silent	SNP	0.948	C
APC	324	genome.wustl.edu	37	5	112178870	112178870	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:112178870G>A	ENST00000457016.1	+	16	7959	c.7579G>A	c.(7579-7581)Gat>Aat	p.D2527N	APC_ENST00000508376.2_Missense_Mutation_p.D2527N|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D2527N			P25054	APC_HUMAN	adenomatous polyposis coli	2527	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGCGCCATGATATTGCACG	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											96.0	86.0	90.0					5																	112178870		2202	4299	6501	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7579G>A	5.37:g.112178870G>A	ENSP00000413133:p.Asp2527Asn		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D2527N	ENST00000457016.1	37	c.7579	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335513	0.81801	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83250	-1.7;-1.7;-1.7	6.07	6.07	0.98685	Adenomatous polyposis coli protein basic domain (1);	0.090542	0.85682	D	0.000000	D	0.89483	0.6728	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.86957	0.2089	9	.	.	.	-22.7673	20.6439	0.99570	0.0:0.0:1.0:0.0	.	2529;2527	Q4LE70;P25054	.;APC_HUMAN	N	2527	ENSP00000413133:D2527N;ENSP00000257430:D2527N;ENSP00000427089:D2527N	.	D	+	1	0	APC	112206769	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.116000	0.77119	2.884000	0.98904	0.655000	0.94253	GAT	APC	-	pfam_APC_basic_dom		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112178870	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21230143	21230143	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:21230143C>G	ENST00000233242.1	-	26	9724	c.9597G>C	c.(9595-9597)caG>caC	p.Q3199H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3199	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTGATGCTCTGACTGATAA	0.318																																																	0													56.0	56.0	56.0					2																	21230143		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9597G>C	2.37:g.21230143C>G	ENSP00000233242:p.Gln3199His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q3199H	ENST00000233242.1	37	c.9597	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	4.615	0.114286	0.08831	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37915	1.17	5.07	-0.551	0.11822	.	1.249790	0.05545	N	0.566543	T	0.24812	0.0602	L	0.29908	0.895	0.09310	N	0.999992	B	0.14805	0.011	B	0.19148	0.024	T	0.31251	-0.9950	10	0.54805	T	0.06	.	2.8914	0.05677	0.1697:0.3289:0.3734:0.128	.	3199	P04114	APOB_HUMAN	H	3199	ENSP00000233242:Q3199H	ENSP00000233242:Q3199H	Q	-	3	2	APOB	21083648	0.001000	0.12720	0.008000	0.14137	0.045000	0.14185	-0.268000	0.08607	-0.010000	0.14271	0.563000	0.77884	CAG	APOB	-	NULL		0.318	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21230143	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.002	G
APOB	338	genome.wustl.edu	37	2	21252549	21252549	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:21252549C>T	ENST00000233242.1	-	12	1706	c.1579G>A	c.(1579-1581)Gcc>Acc	p.A527T	APOB_ENST00000399256.4_Missense_Mutation_p.A527T	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	527	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGATGGCAGCTTTCTGG	0.423																																																	0													203.0	186.0	191.0					2																	21252549		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1579G>A	2.37:g.21252549C>T	ENSP00000233242:p.Ala527Thr		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A527T	ENST00000233242.1	37	c.1579	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.585445	0.96578	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	D;D	0.81499	-1.5;-1.5	5.18	5.18	0.71444	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.64402	D	0.000012	D	0.90133	0.6917	M	0.78637	2.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91124	0.4932	10	0.87932	D	0	.	19.0735	0.93150	0.0:1.0:0.0:0.0	.	527	P04114	APOB_HUMAN	T	527	ENSP00000233242:A527T;ENSP00000382200:A527T	ENSP00000233242:A527T	A	-	1	0	APOB	21106054	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.398000	0.66308	2.581000	0.87130	0.561000	0.74099	GCC	APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21252549	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	T
APOB	338	genome.wustl.edu	37	2	21256185	21256185	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:21256185C>T	ENST00000233242.1	-	9	1237	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	APOB_ENST00000399256.4_Silent_p.L370L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	370	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACCTCAATCAGCTGTGGCA	0.428																																																	0													90.0	84.0	86.0					2																	21256185		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1110G>A	2.37:g.21256185C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L370	ENST00000233242.1	37	c.1110	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21256185	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	1.000	T
AQP10	89872	genome.wustl.edu	37	1	154296280	154296280	+	Silent	SNP	C	C	T	rs144627448		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:154296280C>T	ENST00000324978.3	+	5	745	c.705C>T	c.(703-705)ttC>ttT	p.F235F	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Silent_p.F235F|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	235					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGAAGTCTTCAGGTGGGAGA	0.597																																																	0													33.0	33.0	33.0					1																	154296280		2203	4300	6503	SO:0001819	synonymous_variant	89872			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.705C>T	1.37:g.154296280C>T			Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.F235	ENST00000324978.3	37	c.705	CCDS1065.1	1																																																																																			AQP10	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.597	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	C	NM_080429		154296280	+1	no_errors	ENST00000324978	ensembl	human	known	70_37	silent	SNP	1.000	T
ARAP3	64411	genome.wustl.edu	37	5	141059987	141059987	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:141059987C>T	ENST00000239440.4	-	2	132	c.67G>A	c.(67-69)Gac>Aac	p.D23N	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	23	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGAACGTGTCTGCATACTGC	0.677																																																	0													43.0	41.0	42.0					5																	141059987		2203	4299	6502	SO:0001583	missense	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.67G>A	5.37:g.141059987C>T	ENSP00000239440:p.Asp23Asn		B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.D23N	ENST00000239440.4	37	c.67	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614759	0.87359	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;D	0.86769	-2.17;-2.17	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.92364	0.7577	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90995	0.4838	10	0.29301	T	0.29	.	13.7861	0.63110	0.0:1.0:0.0:0.0	.	23	Q8WWN8	ARAP3_HUMAN	N	23	ENSP00000239440:D23N;ENSP00000421148:D23N	ENSP00000239440:D23N	D	-	1	0	ARAP3	141040171	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.318000	0.59190	2.272000	0.75746	0.462000	0.41574	GAC	ARAP3	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.677	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	C	NM_022481		141059987	-1	no_errors	ENST00000239440	ensembl	human	known	70_37	missense	SNP	1.000	T
ARFGEF1	10565	genome.wustl.edu	37	8	68165807	68165807	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:68165807G>A	ENST00000262215.3	-	18	2966	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	ARFGEF1_ENST00000520381.1_Silent_p.I313I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	859					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TACTGTCATTGATACCTCTAT	0.289																																																	0													156.0	138.0	144.0					8																	68165807		2201	4298	6499	SO:0001819	synonymous_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2577C>T	8.37:g.68165807G>A			Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.I859	ENST00000262215.3	37	c.2577	CCDS6199.1	8																																																																																			ARFGEF1	-	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7		0.289	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	G	NM_006421		68165807	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	silent	SNP	1.000	A
ARHGAP6	395	genome.wustl.edu	37	X	11206923	11206923	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:11206923G>C	ENST00000337414.4	-	4	1874	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	ARHGAP6_ENST00000534860.1_Silent_p.L159L|ARHGAP6_ENST00000380732.3_Silent_p.L366L|ARHGAP6_ENST00000380718.1_Silent_p.L334L|ARHGAP6_ENST00000413512.3_Silent_p.L143L|ARHGAP6_ENST00000303025.6_Silent_p.L131L|ARHGAP6_ENST00000380736.1_Silent_p.L131L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	334					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTTGAGCTGAGAGATGAGT	0.507																																																	0													164.0	124.0	138.0					X																	11206923		2203	4300	6503	SO:0001819	synonymous_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1002C>G	X.37:g.11206923G>C			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L334	ENST00000337414.4	37	c.1002	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL		0.507	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11206923	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	silent	SNP	1.000	C
ARHGEF11	9826	genome.wustl.edu	37	1	156909391	156909391	+	Missense_Mutation	SNP	C	C	T	rs568941052		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:156909391C>T	ENST00000361409.2	-	36	4667	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E1349K|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E725K	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1309					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGCATCTTCAGCCAGATTC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		22000	0.0		0.0	False		,,,				2504	0.001																0													79.0	84.0	83.0					1																	156909391		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3925G>A	1.37:g.156909391C>T	ENSP00000354644:p.Glu1309Lys		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E1349K	ENST00000361409.2	37	c.4045	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966528	0.34659	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.69561	-0.4;-0.41;-0.33	4.55	3.63	0.41609	.	0.682311	0.12832	N	0.435560	T	0.45776	0.1359	L	0.32530	0.975	0.09310	N	1	P;P;P	0.47350	0.894;0.732;0.825	P;B;P	0.46718	0.525;0.254;0.461	T	0.29579	-1.0007	10	0.51188	T	0.08	-0.6458	11.1517	0.48462	0.0:0.6386:0.3614:0.0	.	725;1309;1349	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	K	1349;1309;725	ENSP00000357177:E1349K;ENSP00000354644:E1309K;ENSP00000313470:E725K	ENSP00000313470:E725K	E	-	1	0	ARHGEF11	155176015	0.885000	0.30320	0.067000	0.19924	0.650000	0.38633	3.753000	0.55180	1.095000	0.41419	-0.304000	0.09214	GAA	ARHGEF11	-	NULL		0.498	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156909391	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	0.121	T
ARID5A	10865	genome.wustl.edu	37	2	97217455	97217455	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:97217455C>T	ENST00000357485.3	+	7	1268	c.1190C>T	c.(1189-1191)tCt>tTt	p.S397F	ARID5A_ENST00000454558.2_Missense_Mutation_p.S329F	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	397					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AACCGCCCTTCTGCGTTCCAT	0.612																																																	0													39.0	35.0	36.0					2																	97217455		2203	4300	6503	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1190C>T	2.37:g.97217455C>T	ENSP00000350078:p.Ser397Phe		Q6NX37	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S397F	ENST00000357485.3	37	c.1190	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856635	0.51376	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.70164	-0.46	5.22	5.22	0.72569	.	0.000000	0.48286	D	0.000182	T	0.79713	0.4493	M	0.67953	2.075	0.33989	D	0.648927	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.991;0.96;0.996	D	0.85076	0.0943	10	0.54805	T	0.06	-17.7332	14.6192	0.68572	0.0:1.0:0.0:0.0	.	397;329;397	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	F	397;397;329	ENSP00000350078:S397F	ENSP00000350078:S397F	S	+	2	0	ARID5A	96581182	0.912000	0.30974	0.996000	0.52242	0.536000	0.34869	3.108000	0.50337	2.588000	0.87417	0.655000	0.94253	TCT	ARID5A	-	NULL		0.612	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2	C	NM_212481		97217455	+1	no_errors	ENST00000357485	ensembl	human	known	70_37	missense	SNP	0.951	T
ARHGEF4	50649	genome.wustl.edu	37	2	131673433	131673433	+	5'Flank	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:131673433G>C	ENST00000326016.5	+	0	0				ARHGEF4_ENST00000392953.3_5'Flank|ARHGEF4_ENST00000428230.2_5'Flank|ARHGEF4_ENST00000525839.1_5'Flank|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.Q308H	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4						apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTGTGGAGCAGAAAGGTCTTC	0.642																																																	0																																										SO:0001631	upstream_gene_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657		2.37:g.131673433G>C	Exception_encountered		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	NULL	p.Q308H	ENST00000326016.5	37	c.924	CCDS2165.1	2	.	.	.	.	.	.	.	.	.	.	G	8.320	0.824062	0.16678	.	.	ENSG00000136002	ENST00000409359	T	0.62364	0.03	4.68	1.75	0.24633	.	.	.	.	.	T	0.42562	0.1208	.	.	.	0.58432	D	0.999999	P	0.39157	0.662	B	0.35510	0.204	T	0.12785	-1.0534	7	.	.	.	.	3.1504	0.06485	0.0988:0.1751:0.5454:0.1808	.	308	E7EV07	.	H	308	ENSP00000386794:Q308H	.	Q	+	3	2	ARHGEF4	131389903	0.997000	0.39634	0.422000	0.26621	0.034000	0.12701	0.477000	0.22196	0.041000	0.15688	-0.512000	0.04463	CAG	ARHGEF4	-	NULL		0.642	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	G			131673433	+1	no_errors	ENST00000409359	ensembl	human	putative	70_37	missense	SNP	0.914	C
ARMC10	83787	genome.wustl.edu	37	7	102716269	102716269	+	Nonsense_Mutation	SNP	C	C	A	rs149036313		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:102716269C>A	ENST00000323716.3	+	2	577	c.185C>A	c.(184-186)tCg>tAg	p.S62*	ARMC10_ENST00000425331.1_Intron|FBXL13_ENST00000393772.2_5'Flank|FBXL13_ENST00000379305.3_5'Flank|FBXL13_ENST00000313221.4_5'Flank|FBXL13_ENST00000455112.2_5'Flank|ARMC10_ENST00000428183.2_Nonsense_Mutation_p.S62*|ARMC10_ENST00000441711.2_Intron|FBXL13_ENST00000456695.1_5'Flank|ARMC10_ENST00000541300.1_Intron|FBXL13_ENST00000379308.3_5'Flank|FBXL13_ENST00000379306.3_5'Flank|ARMC10_ENST00000454559.1_Intron|FBXL13_ENST00000471074.1_5'Flank	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	62					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCGGGCGCTCGGCCCGGCCT	0.602																																																	0													61.0	56.0	58.0					7																	102716269		2203	4300	6503	SO:0001587	stop_gained	83787			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.185C>A	7.37:g.102716269C>A	ENSP00000319412:p.Ser62*		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S62*	ENST00000323716.3	37	c.185	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.075768	0.97262	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000434153	.	.	.	2.15	-0.318	0.12728	.	2.156950	0.02628	U	0.103958	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	2.3638	0.04314	0.0:0.3909:0.3134:0.2956	.	.	.	.	X	62	.	ENSP00000319412:S62X	S	+	2	0	ARMC10	102503505	0.000000	0.05858	0.001000	0.08648	0.326000	0.28443	-2.799000	0.00762	-0.076000	0.12775	0.591000	0.81541	TCG	ARMC10	-	NULL		0.602	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	C	NM_031905		102716269	+1	no_errors	ENST00000323716	ensembl	human	known	70_37	nonsense	SNP	0.001	A
ARMC3	219681	genome.wustl.edu	37	10	23270566	23270566	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:23270566A>T	ENST00000298032.5	+	10	1196	c.1112A>T	c.(1111-1113)gAg>gTg	p.E371V	ARMC3_ENST00000409049.3_Missense_Mutation_p.E371V|ARMC3_ENST00000376528.4_Missense_Mutation_p.E108V|ARMC3_ENST00000409983.3_Missense_Mutation_p.E371V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	371						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACAATGAAGAGGTACGGGAA	0.433																																																	0													96.0	83.0	87.0					10																	23270566		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1112A>T	10.37:g.23270566A>T	ENSP00000298032:p.Glu371Val		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E371V	ENST00000298032.5	37	c.1112	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585504	0.66105	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.66995	-0.24;-0.24;1.23;2.19	5.25	5.25	0.73442	Armadillo-like helical (1);Armadillo-type fold (1);	0.302801	0.35936	N	0.002886	T	0.81202	0.4773	M	0.77486	2.375	0.53688	D	0.999979	B;D	0.76494	0.199;0.999	B;D	0.70227	0.124;0.968	T	0.82999	-0.0178	10	0.52906	T	0.07	-27.2007	15.1784	0.72934	1.0:0.0:0.0:0.0	.	371;371	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	371;371;307;371;108	ENSP00000298032:E371V;ENSP00000386943:E371V;ENSP00000387288:E371V;ENSP00000365711:E108V	ENSP00000298032:E371V	E	+	2	0	ARMC3	23310572	1.000000	0.71417	0.030000	0.17652	0.433000	0.31745	5.243000	0.65395	1.981000	0.57761	0.459000	0.35465	GAG	ARMC3	-	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.433	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	A	NM_173081		23270566	+1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.908	T
ARMC3	219681	genome.wustl.edu	37	10	23326324	23326324	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:23326324G>C	ENST00000298032.5	+	19	2619	c.2535G>C	c.(2533-2535)gaG>gaC	p.E845D	ARMC3_ENST00000376528.4_Missense_Mutation_p.E582D|ARMC3_ENST00000409983.3_Missense_Mutation_p.E838D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	845						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGCTCCTGAGATGTACGTGA	0.512																																																	0													105.0	96.0	99.0					10																	23326324		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2535G>C	10.37:g.23326324G>C	ENSP00000298032:p.Glu845Asp		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E845D	ENST00000298032.5	37	c.2535	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628909	0.28978	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.39229	1.09;1.1;2.33	5.68	-11.4	0.00090	.	1.111380	0.06865	N	0.799770	T	0.19967	0.0480	L	0.28192	0.835	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.11329	0.006;0.006	T	0.12426	-1.0548	10	0.37606	T	0.19	-17.021	3.3865	0.07273	0.413:0.3282:0.1746:0.0843	.	838;845	Q5W041-4;Q5W041	.;ARMC3_HUMAN	D	845;838;582	ENSP00000298032:E845D;ENSP00000386943:E838D;ENSP00000365711:E582D	ENSP00000298032:E845D	E	+	3	2	ARMC3	23366330	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.121000	0.03270	-2.540000	0.00486	-0.211000	0.12701	GAG	ARMC3	-	NULL		0.512	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	G	NM_173081		23326324	+1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.000	C
ARRDC1	92714	genome.wustl.edu	37	9	140508299	140508299	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:140508299C>T	ENST00000371421.4	+	4	499				ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1							cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GGCACTGCTTCATCCCAGCGT	0.637																																																	0																																										SO:0001627	intron_variant	92714			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.435+78C>T	9.37:g.140508299C>T				RNA	SNP	-	NULL	ENST00000371421.4	37	NULL	CCDS7049.1	9																																																																																			ARRDC1	-	-		0.637	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC1	HGNC	protein_coding	OTTHUMT00000055358.1	C	NM_152285		140508299	+1	no_errors	ENST00000466367	ensembl	human	known	70_37	rna	SNP	0.000	T
ARSA	410	genome.wustl.edu	37	22	51066038	51066038	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:51066038C>G	ENST00000547307.1	-	1	569	c.164G>C	c.(163-165)gGa>gCa	p.G55A	ARSA_ENST00000453344.2_Intron|ARSA_ENST00000395619.3_Missense_Mutation_p.G57A|ARSA_ENST00000216124.5_Missense_Mutation_p.G57A|ARSA_ENST00000547805.1_Missense_Mutation_p.G55A|ARSA_ENST00000356098.5_Missense_Mutation_p.G57A|ARSA_ENST00000395621.3_Missense_Mutation_p.G57A			P15289	ARSA_HUMAN	arylsulfatase A	55					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCGCAGCCCTCCCGCCGCCAG	0.642																																																	0													15.0	16.0	15.0					22																	51066038		2187	4268	6455	SO:0001583	missense	410			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.164G>C	22.37:g.51066038C>G	ENSP00000448440:p.Gly55Ala		B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G57A	ENST00000547307.1	37	c.170		22	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622950	0.14193	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000395619	D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.3	2.03	0.26663	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.525167	0.22008	N	0.065911	D	0.87581	0.6213	N	0.16233	0.39	0.09310	N	1	B;B	0.18741	0.03;0.003	B;B	0.10450	0.005;0.003	T	0.77797	-0.2453	10	0.40728	T	0.16	.	4.5814	0.12260	0.0:0.5897:0.1837:0.2266	.	55;55	B4DVI5;P15289	.;ARSA_HUMAN	A	57;57;55;55;57;57	ENSP00000348406:G57A;ENSP00000216124:G57A;ENSP00000448440:G55A;ENSP00000448932:G55A;ENSP00000378983:G57A;ENSP00000378981:G57A	ENSP00000216124:G57A	G	-	2	0	ARSA	49412904	0.000000	0.05858	0.122000	0.21767	0.365000	0.29674	-0.038000	0.12144	1.216000	0.43427	0.511000	0.50034	GGA	ARSA	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.642	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	ARSA	HGNC	protein_coding		C	NM_000487		51066038	-1	no_errors	ENST00000216124	ensembl	human	known	70_37	missense	SNP	0.001	G
ASB15	142685	genome.wustl.edu	37	7	123276930	123276930	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:123276930C>G	ENST00000451558.1	+	14	2183	c.1662C>G	c.(1660-1662)ctC>ctG	p.L554L	ASB15_ENST00000275699.3_Silent_p.L554L|ASB15_ENST00000451215.1_Silent_p.L554L|ASB15_ENST00000540573.1_Silent_p.L554L|ASB15_ENST00000434204.1_Silent_p.L554L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	554	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TCCAGAAACTCTGCCAGCCAG	0.373																																																	0													59.0	69.0	66.0					7																	123276930		2203	4299	6502	SO:0001819	synonymous_variant	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1662C>G	7.37:g.123276930C>G			Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L554	ENST00000451558.1	37	c.1662	CCDS34742.1	7																																																																																			ASB15	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.373	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	C			123276930	+1	no_errors	ENST00000275699	ensembl	human	known	70_37	silent	SNP	0.993	G
ASCC1	51008	genome.wustl.edu	37	10	73921387	73921387	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:73921387G>A	ENST00000342444.4	-	7	720	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	ASCC1_ENST00000394919.1_Missense_Mutation_p.H179Y|ASCC1_ENST00000317168.6_Missense_Mutation_p.H179Y|ASCC1_ENST00000394915.3_Missense_Mutation_p.H207Y|ASCC1_ENST00000317126.4_Missense_Mutation_p.H179Y|ASCC1_ENST00000545550.1_Missense_Mutation_p.H201Y	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						ATAGTTAGATGAAGCTTTTTA	0.403																																																	0													148.0	144.0	146.0					10																	73921387		2203	4300	6503	SO:0001583	missense	51008			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.619C>T	10.37:g.73921387G>A	ENSP00000339404:p.His207Tyr		Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1	p.H207Y	ENST00000342444.4	37	c.619	CCDS55713.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.024599|5.024599	0.93518|0.93518	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000530431;ENST00000531048|ENST00000486689	D;D;D;D;D;D;D|.	0.96073|.	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.09|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Protein kinase A anchor protein, nuclear localisation signal domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85822|0.85822	0.5786|0.5786	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	D|D	0.88532|0.88532	0.3103|0.3103	10|5	0.87932|.	D|.	0|.	-15.7921|-15.7921	18.3732|18.3732	0.90420|0.90420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201;207;94|.	F5H874;Q8N9N2;B3KU20|.	.;ASCC1_HUMAN;.|.	Y|L	179;207;179;179;94;179;201;207;94;113|110	ENSP00000378377:H179Y;ENSP00000339404:H207Y;ENSP00000320810:H179Y;ENSP00000320461:H179Y;ENSP00000442121:H201Y;ENSP00000378373:H207Y;ENSP00000436098:H113Y|.	ENSP00000320461:H179Y|.	H|S	-|-	1|2	0|0	ASCC1|ASCC1	73591393|73591393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.333000|8.333000	0.90026|0.90026	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	CAT|TCA	ASCC1	-	pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT		0.403	ASCC1-004	KNOWN	basic|CCDS	protein_coding	ASCC1	HGNC	protein_coding	OTTHUMT00000048573.2	G	NM_015947		73921387	-1	no_errors	ENST00000342444	ensembl	human	known	70_37	missense	SNP	1.000	A
ASH1L	55870	genome.wustl.edu	37	1	155451652	155451652	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:155451652C>G	ENST00000368346.3	-	3	1648	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Missense_Mutation_p.D337H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	337					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCTGAATCTTTGCTTAGC	0.408																																																	0													191.0	192.0	192.0					1																	155451652		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1009G>C	1.37:g.155451652C>G	ENSP00000357330:p.Asp337His		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.D337H	ENST00000368346.3	37	c.1009		1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679247	0.29783	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90133	-2.62;-2.62	4.88	4.88	0.63580	.	0.271361	0.32134	N	0.006521	T	0.75451	0.3851	N	0.14661	0.345	0.80722	D	1	P;P	0.39883	0.567;0.693	B;B	0.37304	0.125;0.246	T	0.81883	-0.0728	10	0.87932	D	0	.	10.8616	0.46829	0.0:0.9119:0.0:0.0881	.	337;337	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	337	ENSP00000357330:D337H;ENSP00000376204:D337H	ENSP00000357330:D337H	D	-	1	0	ASH1L	153718276	0.987000	0.35691	1.000000	0.80357	0.824000	0.46624	3.059000	0.49947	2.697000	0.92050	0.563000	0.77884	GAT	ASH1L	-	NULL		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489		155451652	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	G
ASIC2	40	genome.wustl.edu	37	17	31618955	31618955	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:31618955G>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Missense_Mutation_p.S60L|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCGGCTCAGCGATGGCCGCCC	0.801																																																	0													6.0	8.0	8.0					17																	31618955		2083	4030	6113	SO:0001627	intron_variant	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179870C>T	17.37:g.31618955G>A			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S60L	ENST00000359872.6	37	c.179	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308676	0.23821	.	.	ENSG00000108684	ENST00000225823	T	0.60920	0.15	4.44	2.37	0.29283	.	0.664334	0.13289	N	0.399168	T	0.33731	0.0873	N	0.08118	0	0.21527	N	0.999654	B	0.20261	0.043	B	0.08055	0.003	T	0.22661	-1.0210	10	0.62326	D	0.03	-5.9582	6.7026	0.23232	0.0981:0.0:0.7248:0.1771	.	60	E9PBX2	.	L	60	ENSP00000225823:S60L	ENSP00000225823:S60L	S	-	2	0	ACCN1	28643068	0.767000	0.28508	0.606000	0.28943	0.836000	0.47400	1.803000	0.38863	0.523000	0.28482	0.241000	0.17934	TCG	ASIC2	-	NULL		0.801	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	G	NM_183377, NM_001094		31618955	-1	no_errors	ENST00000225823	ensembl	human	known	70_37	missense	SNP	0.194	A
ASPN	54829	genome.wustl.edu	37	9	95219688	95219688	+	Missense_Mutation	SNP	G	G	C	rs560931002		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:95219688G>C	ENST00000375544.3	-	8	1268	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	ASPN_ENST00000375543.1_3'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	342					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACTGTATAAAGATTTCTTCAT	0.373																																																	0													114.0	111.0	112.0					9																	95219688		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.1025C>G	9.37:g.95219688G>C	ENSP00000364694:p.Ser342Cys		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.S342C	ENST00000375544.3	37	c.1025		9	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545130	0.65198	.	.	ENSG00000106819	ENST00000375544	T	0.05139	3.49	4.99	4.99	0.66335	.	0.251714	0.41001	D	0.000963	T	0.15392	0.0371	L	0.47716	1.5	0.80722	D	1	P	0.43857	0.819	P	0.51866	0.682	T	0.00345	-1.1801	10	0.72032	D	0.01	.	18.7192	0.91687	0.0:0.0:1.0:0.0	.	342	Q9BXN1	ASPN_HUMAN	C	342	ENSP00000364694:S342C	ENSP00000364694:S342C	S	-	2	0	ASPN	94259509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.924000	0.63418	2.490000	0.84030	0.549000	0.68633	TCT	ASPN	-	pirsf_SLRP_I_decor/aspor/byglycan		0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1	G	NM_017680		95219688	-1	no_errors	ENST00000375544	ensembl	human	known	70_37	missense	SNP	1.000	C
ATF4	468	genome.wustl.edu	37	22	39917549	39917549	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:39917549C>G	ENST00000337304.2	+	1	981	c.99C>G	c.(97-99)ctC>ctG	p.L33L	ATF4_ENST00000396680.1_Silent_p.L33L|ATF4_ENST00000404241.2_Silent_p.L33L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	33					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GCCTAGGTCTCTTAGATGATT	0.567																																																	0													64.0	63.0	63.0					22																	39917549		2203	4300	6503	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.99C>G	22.37:g.39917549C>G			Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L33	ENST00000337304.2	37	c.99	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.567	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917549	+1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	G
ATF7IP	55729	genome.wustl.edu	37	12	14578098	14578098	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:14578098G>C	ENST00000540793.1	+	1	1404	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	ATF7IP_ENST00000544627.1_Missense_Mutation_p.D425H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D417H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D417H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D417H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	417	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGTTATTGAAGATAACAAAAG	0.333																																																	0													55.0	57.0	56.0					12																	14578098		2203	4299	6502	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1249G>C	12.37:g.14578098G>C	ENSP00000444589:p.Asp417His		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D417H	ENST00000540793.1	37	c.1249	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212279	0.22289	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.29397	1.95;1.94;1.95;1.95;1.57;1.95	4.83	0.908	0.19326	.	0.844758	0.10376	N	0.682211	T	0.42063	0.1186	L	0.40543	1.245	0.09310	N	1	D;D;P;P;P;P;P	0.63880	0.993;0.971;0.899;0.899;0.899;0.828;0.828	D;P;P;P;P;P;P	0.64776	0.929;0.661;0.661;0.661;0.661;0.464;0.464	T	0.32348	-0.9910	10	0.87932	D	0	-0.4818	9.7059	0.40216	0.276:0.0:0.724:0.0	.	425;417;425;417;417;417;28	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	H	417;417;417;425;417;417	ENSP00000261168:D417H;ENSP00000443179:D417H;ENSP00000445955:D417H;ENSP00000440440:D425H;ENSP00000379575:D417H;ENSP00000444589:D417H	ENSP00000261168:D417H	D	+	1	0	ATF7IP	14469365	0.997000	0.39634	0.000000	0.03702	0.049000	0.14656	3.128000	0.50492	0.055000	0.16094	0.591000	0.81541	GAT	ATF7IP	-	NULL		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	G	NM_018179		14578098	+1	no_errors	ENST00000261168	ensembl	human	known	70_37	missense	SNP	0.040	C
ATG10	83734	genome.wustl.edu	37	5	81549226	81549226	+	Silent	SNP	T	T	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:81549226T>C	ENST00000282185.3	+	7	939	c.645T>C	c.(643-645)gaT>gaC	p.D215D	ATG10_ENST00000458350.3_Silent_p.D215D|ATG10_ENST00000514253.2_Intron	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	215					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CGTCTCAGGATGAACGAAATG	0.418																																																	0													146.0	128.0	134.0					5																	81549226		2203	4300	6503	SO:0001819	synonymous_variant	83734			AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.645T>C	5.37:g.81549226T>C			B2RE09|Q6PIX1|Q9H842	Silent	SNP	pfam_Autophagy-rel_prot_3	p.D215	ENST00000282185.3	37	c.645	CCDS4057.1	5																																																																																			ATG10	-	NULL		0.418	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG10	HGNC	protein_coding	OTTHUMT00000239252.2	T	NM_001131028		81549226	+1	no_errors	ENST00000282185	ensembl	human	known	70_37	silent	SNP	0.000	C
ATG2B	55102	genome.wustl.edu	37	14	96792229	96792229	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:96792229C>G	ENST00000359933.4	-	15	3087	c.2194G>C	c.(2194-2196)Gat>Cat	p.D732H	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	732					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTATGTGAATCATCTAGAAAC	0.353																																																	0													85.0	77.0	79.0					14																	96792229		1930	4119	6049	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2194G>C	14.37:g.96792229C>G	ENSP00000353010:p.Asp732His		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.D732H	ENST00000359933.4	37	c.2194	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619513	0.87460	.	.	ENSG00000066739	ENST00000359933	T	0.11277	2.79	5.6	5.6	0.85130	.	0.000000	0.37219	U	0.002183	T	0.33731	0.0873	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01330	-1.1383	10	0.72032	D	0.01	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	732	Q96BY7	ATG2B_HUMAN	H	732	ENSP00000353010:D732H	ENSP00000353010:D732H	D	-	1	0	ATG2B	95861982	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.270000	0.78493	2.652000	0.90054	0.563000	0.77884	GAT	ATG2B	-	NULL		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96792229	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	G
ATG4C	84938	genome.wustl.edu	37	1	63282267	63282267	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:63282267C>T	ENST00000317868.4	+	4	389	c.182C>T	c.(181-183)gCa>gTa	p.A61V	ATG4C_ENST00000371120.3_Missense_Mutation_p.A61V	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	61					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ACGTTACCTGCAGAGTCGGGA	0.338																																																	0													66.0	67.0	66.0					1																	63282267		2203	4300	6503	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.182C>T	1.37:g.63282267C>T	ENSP00000322159:p.Ala61Val		A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	pfam_Peptidase_C54	p.A61V	ENST00000317868.4	37	c.182	CCDS623.1	1	.	.	.	.	.	.	.	.	.	.	C	4.312	0.057228	0.08339	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	.	.	.	5.31	1.86	0.25419	.	0.701562	0.14820	N	0.296532	T	0.04634	0.0126	N	0.03115	-0.41	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.38929	-0.9638	9	0.29301	T	0.29	-13.0393	5.0071	0.14293	0.1639:0.6168:0.0:0.2192	.	61	Q96DT6	ATG4C_HUMAN	V	61	.	ENSP00000322159:A61V	A	+	2	0	ATG4C	63054855	0.542000	0.26426	0.941000	0.38009	0.094000	0.18550	1.005000	0.29834	0.708000	0.31955	0.655000	0.94253	GCA	ATG4C	-	NULL		0.338	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4C	HGNC	protein_coding	OTTHUMT00000025332.2	C	NM_032852		63282267	+1	no_errors	ENST00000317868	ensembl	human	known	70_37	missense	SNP	0.010	T
ATG7	10533	genome.wustl.edu	37	3	11596302	11596302	+	Silent	SNP	T	T	C	rs8154	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:11596302T>C	ENST00000354449.3	+	19	2122	c.2097T>C	c.(2095-2097)gaT>gaC	p.D699D	ATG7_ENST00000354956.5_Silent_p.D672D|ATG7_ENST00000446450.2_Silent_p.D619D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	699					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.D699D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ACATGAGCGATGATGAGACCA	0.637													C|||	1275	0.254593	0.3419	0.2277	5008	,	,		17980	0.1389		0.3201	False		,,,				2504	0.2076																1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						C	,,	1417,2989	685.6+/-404.6	218,981,1004	89.0	79.0	82.0		2016,1857,2097	1.4	0.9	3	dbSNP_100	82	2776,5824	678.6+/-403.5	459,1858,1983	no	coding-synonymous,coding-synonymous,coding-synonymous	ATG7	NM_001136031.2,NM_001144912.1,NM_006395.2	,,	677,2839,2987	CC,CT,TT		32.2791,32.1607,32.239	,,	672/677,619/624,699/704	11596302	4193,8813	2203	4300	6503	SO:0001819	synonymous_variant	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2097T>C	3.37:g.11596302T>C			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7	p.D699	ENST00000354449.3	37	c.2097	CCDS2605.1	3																																																																																			ATG7	-	tigrfam_E1-like_Apg7		0.637	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	T	NM_006395		11596302	+1	no_errors	ENST00000354449	ensembl	human	known	70_37	silent	SNP	1.000	C
ATMIN	23300	genome.wustl.edu	37	16	81075907	81075907	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:81075907G>C	ENST00000299575.4	+	3	508	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ATMIN_ENST00000566488.1_Missense_Mutation_p.E6Q|ATMIN_ENST00000539819.1_Intron|ATMIN_ENST00000564241.1_Missense_Mutation_p.E6Q	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	162					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGCATGCTGAGAAGAAGCA	0.443																																																	0													164.0	144.0	151.0					16																	81075907		2202	4300	6502	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.484G>C	16.37:g.81075907G>C	ENSP00000299575:p.Glu162Gln		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.E162Q	ENST00000299575.4	37	c.484	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.435764	0.96168	.	.	ENSG00000166454	ENST00000299575	T	0.03272	3.99	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00026	-1.2311	10	0.72032	D	0.01	-19.2225	20.054	0.97641	0.0:0.0:1.0:0.0	.	162	O43313	ATMIN_HUMAN	Q	162	ENSP00000299575:E162Q	ENSP00000299575:E162Q	E	+	1	0	ATMIN	79633408	1.000000	0.71417	0.987000	0.45799	0.895000	0.52256	9.751000	0.98889	2.808000	0.96608	0.655000	0.94253	GAG	ATMIN	-	NULL		0.443	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	G	NM_015251		81075907	+1	no_errors	ENST00000299575	ensembl	human	known	70_37	missense	SNP	1.000	C
ATN1	1822	genome.wustl.edu	37	12	7048166	7048166	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:7048166G>C	ENST00000356654.4	+	7	3277	c.3040G>C	c.(3040-3042)Gac>Cac	p.D1014H	ATN1_ENST00000396684.2_Missense_Mutation_p.D1014H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1014					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTGCGGCCTGACATGTCCTA	0.672																																																	0													46.0	51.0	49.0					12																	7048166		2201	4298	6499	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3040G>C	12.37:g.7048166G>C	ENSP00000349076:p.Asp1014His		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.D1014H	ENST00000356654.4	37	c.3040	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225212	0.58668	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.43688	0.94;0.94;0.94	4.82	4.82	0.62117	.	0.218305	0.22808	U	0.055397	T	0.47451	0.1446	N	0.11427	0.14	0.50632	D	0.999889	D	0.71674	0.998	D	0.73708	0.981	T	0.58233	-0.7672	10	0.66056	D	0.02	.	18.5267	0.90975	0.0:0.0:1.0:0.0	.	1014	P54259	ATN1_HUMAN	H	1014;1014;1014;599	ENSP00000349076:D1014H;ENSP00000379915:D1014H;ENSP00000441744:D1014H	ENSP00000229279:D599H	D	+	1	0	ATN1	6918427	1.000000	0.71417	0.999000	0.59377	0.196000	0.23810	9.596000	0.98267	2.684000	0.91462	0.650000	0.86243	GAC	ATN1	-	pfam_Atrophin-like,prints_Atrophin-1		0.672	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	G	NM_001940		7048166	+1	no_errors	ENST00000356654	ensembl	human	known	70_37	missense	SNP	1.000	C
ATP2A3	489	genome.wustl.edu	37	17	3840822	3840822	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:3840822C>G	ENST00000352011.3	-	15	2263	c.2209G>C	c.(2209-2211)Gat>Cat	p.D737H	ATP2A3_ENST00000397043.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000309890.7_Missense_Mutation_p.D737H|ATP2A3_ENST00000397041.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000397035.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000359983.3_Missense_Mutation_p.D737H|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	737					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AAGTTGTCATCTGACAGCACC	0.592																																					GBM(32;29 774 15719 37967)												0													100.0	75.0	83.0					17																	3840822		2203	4299	6502	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2209G>C	17.37:g.3840822C>G	ENSP00000301387:p.Asp737His		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.D737H	ENST00000352011.3	37	c.2209	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079499	0.76528	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49;-5.49	4.17	4.17	0.49024	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.997;0.994;0.997;0.997;0.997	D	0.97395	0.9992	10	0.87932	D	0	.	16.7406	0.85458	0.0:1.0:0.0:0.0	.	737;737;737;737;737;737	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	H	737	ENSP00000380236:D737H;ENSP00000301387:D737H;ENSP00000353072:D737H;ENSP00000380234:D737H;ENSP00000312577:D737H;ENSP00000380229:D737H	ENSP00000312577:D737H	D	-	1	0	ATP2A3	3787571	1.000000	0.71417	0.983000	0.44433	0.716000	0.41182	7.651000	0.83577	2.607000	0.88179	0.563000	0.77884	GAT	ATP2A3	-	pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.592	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3840822	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP5F1	515	genome.wustl.edu	37	1	111998857	111998857	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:111998857G>A	ENST00000369722.3	+	4	979	c.373G>A	c.(373-375)Gat>Aat	p.D125N	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.D64N	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	125					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGACTTTGCTGATAAACTCAA	0.358																																																	0													107.0	109.0	108.0					1																	111998857		2203	4300	6503	SO:0001583	missense	515			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.373G>A	1.37:g.111998857G>A	ENSP00000358737:p.Asp125Asn		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.D125N	ENST00000369722.3	37	c.373	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959864	0.92791	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.35789	1.29;1.29	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70450	-0.4868	10	0.87932	D	0	.	19.0595	0.93081	0.0:0.0:1.0:0.0	.	125;125	Q08ET0;P24539	.;AT5F1_HUMAN	N	125;64	ENSP00000358737:D125N;ENSP00000420366:D64N	ENSP00000358737:D125N	D	+	1	0	ATP5F1	111800380	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.077000	0.94016	2.670000	0.90874	0.655000	0.94253	GAT	ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt		0.358	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	G	NM_001688		111998857	+1	no_errors	ENST00000369722	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP8A1	10396	genome.wustl.edu	37	4	42457436	42457436	+	Splice_Site	SNP	T	T	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:42457436T>A	ENST00000381668.5	-	29	2926	c.2695A>T	c.(2695-2697)Atg>Ttg	p.M899L	ATP8A1_ENST00000264449.10_Splice_Site_p.M884L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	899					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTGTAAACATCTAAAGCGCA	0.368																																																	0													147.0	140.0	142.0					4																	42457436		2203	4299	6502	SO:0001630	splice_region_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2695-1A>T	4.37:g.42457436T>A			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.M899L	ENST00000381668.5	37	c.2695	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665380	0.29604	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.69806	-0.43;-0.43	5.22	5.22	0.72569	.	0.057415	0.64402	D	0.000001	T	0.31827	0.0809	N	0.00422	-1.515	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.39482	-0.9612	10	0.10636	T	0.68	.	15.3999	0.74830	0.0:0.0:0.0:1.0	.	884;899;891	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	L	899;884	ENSP00000371084:M899L;ENSP00000264449:M884L	ENSP00000264449:M884L	M	-	1	0	ATP8A1	42152193	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.091000	0.57700	2.085000	0.62840	0.528000	0.53228	ATG	ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transl		0.368	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	T	NM_006095	Missense_Mutation	42457436	-1	no_errors	ENST00000381668	ensembl	human	known	70_37	missense	SNP	1.000	A
AZU1	566	genome.wustl.edu	37	19	829604	829604	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:829604G>C	ENST00000233997.2	+	3	279	c.258G>C	c.(256-258)ctG>ctC	p.L86L		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTATGACCTGAGGCGGCGGG	0.632																																																	0													72.0	70.0	70.0					19																	829604		2203	4300	6503	SO:0001819	synonymous_variant	566			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.258G>C	19.37:g.829604G>C			P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L86	ENST00000233997.2	37	c.258	CCDS12044.1	19																																																																																			AZU1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.632	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZU1	HGNC	protein_coding	OTTHUMT00000457472.2	G	NM_001700		829604	+1	no_errors	ENST00000233997	ensembl	human	known	70_37	silent	SNP	0.992	C
B3GALNT1	8706	genome.wustl.edu	37	3	160803991	160803991	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:160803991G>T	ENST00000392781.2	-	8	1299	c.552C>A	c.(550-552)ttC>ttA	p.F184L	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.F184L|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.F184L|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.F184L|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.F184L|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.F184L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	184					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CAGTATTGATGAAAACATCAG	0.358																																																	0													48.0	47.0	47.0					3																	160803991		2203	4300	6503	SO:0001583	missense	8706			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.552C>A	3.37:g.160803991G>T	ENSP00000376532:p.Phe184Leu		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.F184L	ENST00000392781.2	37	c.552	CCDS3193.1	3	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095837	0.36952	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.94	0.587	0.17439	.	0.077728	0.56097	D	0.000034	T	0.41604	0.1166	M	0.71206	2.165	0.42698	D	0.993604	B	0.29716	0.255	B	0.33042	0.157	T	0.42396	-0.9454	10	0.62326	D	0.03	.	10.5733	0.45212	0.4289:0.0:0.5711:0.0	.	184	O75752	B3GL1_HUMAN	L	184	ENSP00000323479:F184L;ENSP00000376530:F184L;ENSP00000376531:F184L;ENSP00000376532:F184L;ENSP00000418226:F184L;ENSP00000420163:F184L	ENSP00000323479:F184L	F	-	3	2	B3GALNT1	162286685	0.238000	0.23825	0.990000	0.47175	0.578000	0.36192	0.341000	0.19909	0.144000	0.18951	0.561000	0.74099	TTC	B3GALNT1	-	pfam_Glyco_trans_31,pfam_Fringe-like		0.358	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GALNT1	HGNC	protein_coding	OTTHUMT00000353125.1	G	NM_033167		160803991	-1	no_errors	ENST00000320474	ensembl	human	known	70_37	missense	SNP	0.980	T
BAGE2	85319	genome.wustl.edu	37	21	11060117	11060117	+	RNA	SNP	A	A	T	rs4095754	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:11060117A>T	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATCTAAATATGTTTAGTGC	0.303																																																	0																																												85319			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11060117A>T			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-		0.303	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	A	NM_182482		11060117	-1	no_errors	ENST00000474011	ensembl	human	known	70_37	rna	SNP	0.094	T
BANK1	55024	genome.wustl.edu	37	4	102994888	102994888	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:102994888G>T	ENST00000322953.4	+	16	2620	c.2346G>T	c.(2344-2346)aaG>aaT	p.K782N	BANK1_ENST00000504592.1_Missense_Mutation_p.K767N|BANK1_ENST00000508653.1_Missense_Mutation_p.K649N|BANK1_ENST00000444316.2_Missense_Mutation_p.K752N|BANK1_ENST00000428908.1_Missense_Mutation_p.K649N	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	782					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCTGTTGCAAGAAAGATCATT	0.318																																																	0													71.0	74.0	73.0					4																	102994888		2203	4300	6503	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2346G>T	4.37:g.102994888G>T	ENSP00000320509:p.Lys782Asn		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.K782N	ENST00000322953.4	37	c.2346	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734510	0.30774	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.20738	2.75;2.73;2.05;2.05;2.75	4.59	-2.37	0.06643	.	0.541918	0.17356	N	0.177235	T	0.09905	0.0243	N	0.14661	0.345	0.26920	N	0.966692	B;B;B	0.25609	0.13;0.13;0.13	B;B;B	0.27076	0.076;0.076;0.076	T	0.17258	-1.0375	10	0.72032	D	0.01	.	5.1243	0.14876	0.5983:0.0:0.24:0.1617	.	649;782;767	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	N	767;782;649;649;752	ENSP00000421443:K767N;ENSP00000320509:K782N;ENSP00000412748:K649N;ENSP00000422314:K649N;ENSP00000388817:K752N	ENSP00000320509:K782N	K	+	3	2	BANK1	103213911	0.885000	0.30320	0.871000	0.34182	0.803000	0.45373	0.046000	0.14035	-0.377000	0.07930	0.563000	0.77884	AAG	BANK1	-	NULL		0.318	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	G	NM_017935		102994888	+1	no_errors	ENST00000322953	ensembl	human	known	70_37	missense	SNP	0.832	T
BARD1	580	genome.wustl.edu	37	2	215645790	215645790	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:215645790C>T	ENST00000260947.4	-	4	942	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	BARD1_ENST00000449967.2_Missense_Mutation_p.E126K|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	270					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAACATTCAGATTCTGTC	0.423									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													62.0	65.0	64.0					2																	215645790		2203	4298	6501	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.808G>A	2.37:g.215645790C>T	ENSP00000260947:p.Glu270Lys		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.E270K	ENST00000260947.4	37	c.808	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186179	0.38609	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72942	-0.7;-0.06	5.61	2.72	0.32119	.	0.585027	0.18629	N	0.135625	T	0.62171	0.2406	L	0.54323	1.7	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.22152	0.038;0.026	T	0.48127	-0.9062	10	0.27082	T	0.32	-17.2735	10.7027	0.45937	0.0:0.5547:0.3789:0.0664	.	126;270	E7EUI3;Q99728	.;BARD1_HUMAN	K	270;126	ENSP00000260947:E270K;ENSP00000406752:E126K	ENSP00000260947:E270K	E	-	1	0	BARD1	215354035	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.507000	0.22675	0.349000	0.23975	-0.172000	0.13284	GAA	BARD1	-	NULL		0.423	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	C	NM_000465		215645790	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	missense	SNP	0.002	T
BARD1	580	genome.wustl.edu	37	2	215645796	215645796	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:215645796C>T	ENST00000260947.4	-	4	936	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	BARD1_ENST00000449967.2_Missense_Mutation_p.E124K|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	268					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTCAGATTCTGTCAAGGAG	0.413									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													62.0	65.0	64.0					2																	215645796		2203	4298	6501	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.802G>A	2.37:g.215645796C>T	ENSP00000260947:p.Glu268Lys		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.E268K	ENST00000260947.4	37	c.802	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062784	0.76187	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.75260	-0.92;-0.46	5.61	4.73	0.59995	.	0.312414	0.34435	N	0.003974	D	0.84120	0.5402	M	0.71581	2.175	0.26556	N	0.973811	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77292	-0.2642	10	0.27082	T	0.32	-12.0695	15.102	0.72288	0.0:0.9315:0.0:0.0685	.	124;268	E7EUI3;Q99728	.;BARD1_HUMAN	K	268;124	ENSP00000260947:E268K;ENSP00000406752:E124K	ENSP00000260947:E268K	E	-	1	0	BARD1	215354041	0.832000	0.29368	0.027000	0.17364	0.022000	0.10575	2.575000	0.46025	1.501000	0.48654	0.650000	0.86243	GAA	BARD1	-	NULL		0.413	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	C	NM_000465		215645796	-1	no_errors	ENST00000260947	ensembl	human	known	70_37	missense	SNP	0.408	T
BCAS2	10286	genome.wustl.edu	37	1	115124155	115124155	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:115124155C>G	ENST00000369541.3	-	1	105	c.58G>C	c.(58-60)Gat>Cat	p.D20H	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	20					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAACCTTGATCAAAATACGGC	0.547																																																	0													80.0	73.0	75.0					1																	115124155		2203	4300	6503	SO:0001583	missense	10286			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.58G>C	1.37:g.115124155C>G	ENSP00000358554:p.Asp20His		Q6FGS0	Missense_Mutation	SNP	pfam_BCAS2	p.D20H	ENST00000369541.3	37	c.58	CCDS874.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.385211	0.95967	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84428	0.5470	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86716	0.1939	9	0.87932	D	0	-12.0007	19.9747	0.97299	0.0:1.0:0.0:0.0	.	20	O75934	SPF27_HUMAN	H	20	.	ENSP00000358554:D20H	D	-	1	0	BCAS2	114925678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.957000	0.76019	2.715000	0.92844	0.551000	0.68910	GAT	BCAS2	-	pfam_BCAS2		0.547	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS2	HGNC	protein_coding	OTTHUMT00000032871.1	C	NM_005872		115124155	-1	no_errors	ENST00000369541	ensembl	human	known	70_37	missense	SNP	1.000	G
BCAN	63827	genome.wustl.edu	37	1	156617318	156617318	+	Missense_Mutation	SNP	G	G	A	rs372404921		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:156617318G>A	ENST00000329117.5	+	4	821	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	162	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTCTACCGAGAGGGCTCT	0.652																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	46.0	48.0	48.0		485,485	4.3	1.0	1		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCAN	NM_021948.4,NM_198427.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/912,162/672	156617318	1,13005	2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.485G>A	1.37:g.156617318G>A	ENSP00000331210:p.Arg162Gln		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.R162Q	ENST00000329117.5	37	c.485	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.186459	0.94885	0.0	1.16E-4	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.26	4.26	0.50523	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.53938	D	0.000060	T	0.16727	0.0402	L	0.39898	1.24	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.01648	-1.1304	10	0.87932	D	0	-13.6486	15.4026	0.74852	0.0:0.0:1.0:0.0	.	162;162	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Q	162;162;60;162	ENSP00000331210:R162Q;ENSP00000389898:R162Q;ENSP00000401709:R60Q;ENSP00000354925:R162Q	ENSP00000331210:R162Q	R	+	2	0	BCAN	154883942	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.555000	0.98123	2.187000	0.69744	0.442000	0.29010	CGA	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	G	NM_021948		156617318	+1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	1.000	A
BCHE	590	genome.wustl.edu	37	3	165548329	165548329	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:165548329C>T	ENST00000264381.3	-	2	659	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	165					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ATAACTCTTTCAACCCGAGCC	0.413																																																	0													54.0	56.0	55.0					3																	165548329		2203	4300	6503	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.493G>A	3.37:g.165548329C>T	ENSP00000264381:p.Glu165Lys		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.E165K	ENST00000264381.3	37	c.493	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187141	0.78789	.	.	ENSG00000114200	ENST00000264381	T	0.66995	-0.24	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82070	-0.0639	10	0.87932	D	0	.	18.6512	0.91431	0.0:1.0:0.0:0.0	.	165	P06276	CHLE_HUMAN	K	165	ENSP00000264381:E165K	ENSP00000264381:E165K	E	-	1	0	BCHE	167031023	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.699000	0.84547	2.648000	0.89879	0.655000	0.94253	GAA	BCHE	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase		0.413	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	C			165548329	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	missense	SNP	1.000	T
BCO2	83875	genome.wustl.edu	37	11	112071405	112071405	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:112071405C>T	ENST00000357685.5	+	7	1070	c.935C>T	c.(934-936)tCt>tTt	p.S312F	BCO2_ENST00000532593.1_Missense_Mutation_p.S207F|BCO2_ENST00000393032.2_Missense_Mutation_p.S278F|BCO2_ENST00000526088.1_Missense_Mutation_p.S278F|BCO2_ENST00000531169.1_Missense_Mutation_p.S278F|BCO2_ENST00000438022.1_Missense_Mutation_p.S278F|BCO2_ENST00000361053.4_Missense_Mutation_p.S239F			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	312					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATTGCCACTTCTAAAATTCGG	0.403																																					GBM(177;1916 2099 21049 29541 39946)												0													100.0	103.0	102.0					11																	112071405		2201	4297	6498	SO:0001583	missense	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.935C>T	11.37:g.112071405C>T	ENSP00000350314:p.Ser312Phe		B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.S312F	ENST00000357685.5	37	c.935	CCDS8358.2	11	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580116	0.65992	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.95342	-3.68;-3.67;-3.62;-3.67;-3.66;-3.53;-3.67	5.54	4.63	0.57726	.	0.262064	0.44688	D	0.000427	D	0.96914	0.8992	M	0.85462	2.755	0.39698	D	0.97114	P;D;P;D	0.76494	0.885;0.999;0.94;0.967	P;D;P;P	0.77004	0.733;0.989;0.837;0.837	D	0.97328	0.9948	10	0.72032	D	0.01	-11.6281	9.9835	0.41828	0.0:0.7895:0.1378:0.0727	.	289;239;312;139	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7	.;.;BCDO2_HUMAN;.	F	312;278;239;278;278;207;278	ENSP00000350314:S312F;ENSP00000376752:S278F;ENSP00000354338:S239F;ENSP00000414843:S278F;ENSP00000436615:S278F;ENSP00000431802:S207F;ENSP00000437053:S278F	ENSP00000350314:S312F	S	+	2	0	BCO2	111576615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.488000	0.45276	1.354000	0.45846	0.585000	0.79938	TCT	BCO2	-	pfam_Carotenoid_Oase		0.403	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCO2	HGNC	protein_coding	OTTHUMT00000256570.3	C	NM_001037290		112071405	+1	no_errors	ENST00000357685	ensembl	human	known	70_37	missense	SNP	1.000	T
BCR	613	genome.wustl.edu	37	22	23610658	23610658	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:23610658G>C	ENST00000305877.8	+	5	2567	c.1816G>C	c.(1816-1818)Gag>Cag	p.E606Q	BCR_ENST00000359540.3_Missense_Mutation_p.E606Q	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	606	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GGAAATGGCTGAGAAGTGCTG	0.582			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													120.0	95.0	104.0					22																	23610658		2203	4300	6503	SO:0001583	missense	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1816G>C	22.37:g.23610658G>C	ENSP00000303507:p.Glu606Gln		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.E606Q	ENST00000305877.8	37	c.1816	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.405716	0.96051	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.64260	-0.09;-0.09	5.49	5.49	0.81192	Dbl homology (DH) domain (5);	0.095616	0.64402	D	0.000001	T	0.65974	0.2743	L	0.53671	1.685	0.80722	D	1	B;P;B	0.39903	0.149;0.694;0.368	B;P;B	0.44518	0.206;0.452;0.217	T	0.65220	-0.6221	10	0.44086	T	0.13	.	18.7448	0.91788	0.0:0.0:1.0:0.0	.	195;606;606	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	Q	606;606;271	ENSP00000303507:E606Q;ENSP00000352535:E606Q	ENSP00000303507:E606Q	E	+	1	0	BCR	21940658	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	9.565000	0.98154	2.761000	0.94854	0.655000	0.94253	GAG	BCR	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.582	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	G	NM_004327		23610658	+1	no_errors	ENST00000305877	ensembl	human	known	70_37	missense	SNP	1.000	C
BEST1	7439	genome.wustl.edu	37	11	61723284	61723284	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:61723284C>T	ENST00000378043.4	+	4	985	c.342C>T	c.(340-342)gtC>gtT	p.V114V	BEST1_ENST00000449131.2_Silent_p.V54V|BEST1_ENST00000534553.1_Silent_p.V8V|BEST1_ENST00000435278.2_Silent_p.V114V|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000526988.1_Silent_p.V8V|BEST1_ENST00000378042.3_Silent_p.V54V	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	114					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGGCTTCGTCGAAGGCAAGG	0.667																																																	0													24.0	17.0	20.0					11																	61723284		2106	4063	6169	SO:0001819	synonymous_variant	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.342C>T	11.37:g.61723284C>T			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	pfam_Bestrophin/UPF0187	p.V54	ENST00000378043.4	37	c.162	CCDS31580.1	11																																																																																			BEST1	-	pfam_Bestrophin/UPF0187		0.667	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	C	NM_004183		61723284	+1	no_errors	ENST00000449131	ensembl	human	known	70_37	silent	SNP	0.948	T
BIN2	51411	genome.wustl.edu	37	12	51686077	51686077	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:51686077G>A	ENST00000267012.4	-	10	874	c.813C>T	c.(811-813)gtC>gtT	p.V271V	BIN2_ENST00000544402.1_Silent_p.V245V|BIN2_ENST00000452142.2_Silent_p.V239V|BIN2_ENST00000604560.1_Silent_p.V244V	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	271					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GAGGACTGGAGACTGTAGCTG	0.483																																																	0													55.0	58.0	57.0					12																	51686077		2203	4292	6495	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.813C>T	12.37:g.51686077G>A			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.V271	ENST00000267012.4	37	c.813	CCDS8811.1	12																																																																																			BIN2	-	NULL		0.483	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	G			51686077	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	silent	SNP	0.001	A
BNIP3P1	319138	genome.wustl.edu	37	14	28733920	28733920	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:28733920C>T	ENST00000550043.1	+	0	325									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		CAGCATGAGTCTGGACGGAGT	0.473																																																	0																																												319138					14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733920C>T				RNA	SNP	-	NULL	ENST00000550043.1	37	NULL		14																																																																																			BNIP3P1	-	-		0.473	BNIP3P1-002	KNOWN	basic	processed_transcript	BNIP3P1	HGNC	pseudogene	OTTHUMT00000408770.1	C			28733920	+1	no_errors	ENST00000550043	ensembl	human	known	70_37	rna	SNP	0.991	T
BPTF	2186	genome.wustl.edu	37	17	65888035	65888035	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:65888035C>G	ENST00000321892.4	+	7	2379	c.2318C>G	c.(2317-2319)tCa>tGa	p.S773*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.S634*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.S773*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.S647*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	773					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCATCTGGCTCAACTCGAATC	0.468																																																	0													72.0	68.0	69.0					17																	65888035		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2318C>G	17.37:g.65888035C>G	ENSP00000315454:p.Ser773*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S773*	ENST00000321892.4	37	c.2318		17	.	.	.	.	.	.	.	.	.	.	C	33	5.246646	0.95305	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-3.5827	19.2038	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	678;647;773;773;571	.	ENSP00000307208:S647X	S	+	2	0	BPTF	63318497	1.000000	0.71417	0.988000	0.46212	0.136000	0.21042	5.980000	0.70516	2.585000	0.87301	0.655000	0.94253	TCA	BPTF	-	NULL		0.468	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65888035	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	nonsense	SNP	0.999	G
BPTF	2186	genome.wustl.edu	37	17	65907505	65907505	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:65907505G>A	ENST00000321892.4	+	13	3944	c.3883G>A	c.(3883-3885)Gat>Aat	p.D1295N	BPTF_ENST00000424123.3_Missense_Mutation_p.D1156N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1295N|BPTF_ENST00000306378.6_Missense_Mutation_p.D1169N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1295					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTGTTAGATGATGTCTCCAT	0.398																																																	0													57.0	55.0	56.0					17																	65907505		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3883G>A	17.37:g.65907505G>A	ENSP00000315454:p.Asp1295Asn		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D1295N	ENST00000321892.4	37	c.3883		17	.	.	.	.	.	.	.	.	.	.	G	8.638	0.895359	0.17613	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62941	-0.01;-0.01;-0.01	6.05	4.9	0.64082	.	.	.	.	.	T	0.50888	0.1642	N	0.24115	0.695	0.19300	N	0.999978	P;P	0.41848	0.763;0.763	B;B	0.42282	0.382;0.382	T	0.38415	-0.9662	9	0.24483	T	0.36	-17.0039	13.9158	0.63897	0.1228:0.0:0.8772:0.0	.	1169;1295	Q12830-2;Q12830-4	.;.	N	1169;1295;1295	ENSP00000307208:D1169N;ENSP00000334351:D1295N;ENSP00000315454:D1295N	ENSP00000307208:D1169N	D	+	1	0	BPTF	63337967	0.985000	0.35326	0.963000	0.40424	0.006000	0.05464	3.259000	0.51515	2.878000	0.98634	0.650000	0.86243	GAT	BPTF	-	NULL		0.398	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		G	NM_182641, NM_004459		65907505	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.232	A
BRD3	8019	genome.wustl.edu	37	9	136898586	136898586	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:136898586C>T	ENST00000303407.7	-	0	2492				BRD3_ENST00000473349.1_5'UTR|LINC00094_ENST00000603928.1_RNA|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3						chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAAGATATCATAACACTGA	0.443			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0																																										SO:0001624	3_prime_UTR_variant	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.*126G>A	9.37:g.136898586C>T			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	RNA	SNP	-	NULL	ENST00000303407.7	37	NULL	CCDS6980.1	9																																																																																			BRD3	-	-		0.443	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	C	NM_007371		136898586	-1	no_errors	ENST00000473349	ensembl	human	known	70_37	rna	SNP	0.003	T
BRWD1	54014	genome.wustl.edu	37	21	40619650	40619650	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:40619650C>T	ENST00000333229.2	-	21	2785	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E820K|BRWD1_ENST00000342449.3_Missense_Mutation_p.E820K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	820					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTGAAGACTCATTTCCAGAA	0.333																																					Melanoma(170;988 1986 4794 16843 39731)												0													93.0	87.0	89.0					21																	40619650		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2458G>A	21.37:g.40619650C>T	ENSP00000330753:p.Glu820Lys		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E820K	ENST00000333229.2	37	c.2458	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781780	0.70222	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56776	0.44;0.47;0.54	5.44	5.44	0.79542	.	0.254929	0.32836	N	0.005592	T	0.44350	0.1289	L	0.47716	1.5	0.80722	D	1	B;P	0.40970	0.317;0.734	B;B	0.37731	0.108;0.257	T	0.41016	-0.9532	10	0.42905	T	0.14	-11.3617	10.6796	0.45807	0.0:0.9116:0.0:0.0884	.	820;820	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	820	ENSP00000330753:E820K;ENSP00000344333:E820K;ENSP00000370178:E820K	ENSP00000330753:E820K	E	-	1	0	BRWD1	39541520	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.517000	0.45529	2.711000	0.92665	0.591000	0.81541	GAG	BRWD1	-	NULL		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40619650	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	1.000	T
BSN	8927	genome.wustl.edu	37	3	49695363	49695363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:49695363C>T	ENST00000296452.4	+	5	8488	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2792					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.Q2792E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAAGTCCCCTCAGGTCCTCTA	0.592																																																	1	Substitution - Missense(1)	endometrium(1)											103.0	107.0	105.0					3																	49695363		2203	4300	6503	SO:0001587	stop_gained	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8374C>T	3.37:g.49695363C>T	ENSP00000296452:p.Gln2792*		O43161|Q7LGH3	Nonsense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.Q2792*	ENST00000296452.4	37	c.8374	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	49	15.631026	0.99840	.	.	ENSG00000164061	ENST00000296452	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.9753	19.7891	0.96450	0.0:1.0:0.0:0.0	.	.	.	.	X	2792	.	ENSP00000296452:Q2792X	Q	+	1	0	BSN	49670367	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.771000	0.85420	2.692000	0.91855	0.561000	0.74099	CAG	BSN	-	NULL		0.592	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49695363	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MALRD1	340895	genome.wustl.edu	37	10	19641099	19641099	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:19641099C>G	ENST00000454679.2	+	11	2202	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L				Q5VYJ5	MALR1_HUMAN		734	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						ACTTCCAACTCAAATTTGAAG	0.428																																																	0																																										SO:0001819	synonymous_variant	340895																														ENST00000454679.2:c.2202C>G	10.37:g.19641099C>G			B7ZBP2	Silent	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom	p.L734	ENST00000454679.2	37	c.2202		10																																																																																			C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.428	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		C			19641099	+1	no_errors	ENST00000454679	ensembl	human	known	70_37	silent	SNP	0.956	G
C12orf77	196415	genome.wustl.edu	37	12	25149195	25149195	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:25149195G>C	ENST00000549828.1	-	2	286	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	28										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TCCAGAATTTGAATATTATTT	0.443																																																	0													142.0	136.0	138.0					12																	25149195		1908	4134	6042	SO:0001583	missense	196415			BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.82C>G	12.37:g.25149195G>C	ENSP00000447146:p.Gln28Glu			Missense_Mutation	SNP	NULL	p.Q28E	ENST00000549828.1	37	c.82	CCDS44846.1	12	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312012	0.23821	.	.	ENSG00000226397	ENST00000549828	T	0.51574	0.7	4.46	3.55	0.40652	.	.	.	.	.	T	0.35158	0.0922	N	0.08118	0	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.34104	-0.9842	9	0.87932	D	0	.	10.1774	0.42946	0.0:0.0:0.7854:0.2146	.	28	C9JDV5	CL097_HUMAN	E	28	ENSP00000447146:Q28E	ENSP00000447146:Q28E	Q	-	1	0	C12orf77	25040462	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.074000	0.41529	1.137000	0.42214	0.655000	0.94253	CAA	C12orf77	-	NULL		0.443	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf77	HGNC	protein_coding	OTTHUMT00000407827.1	G	NM_001101339		25149195	-1	no_errors	ENST00000549828	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRC74A	145497	genome.wustl.edu	37	14	77294855	77294855	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:77294855G>A	ENST00000216453.5	+	1	181	c.181G>A	c.(181-183)Gag>Aag	p.E61K	C14orf166B_ENST00000393774.3_Intron|C14orf166B_ENST00000450042.2_Intron|C14orf166B_ENST00000460005.1_3'UTR																breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CTCCTTTCCAGAGTCTGCCCT	0.582																																					Ovarian(165;1056 1958 32571 36789 48728)												0																																										SO:0001583	missense	145497																														ENST00000216453.5:c.181G>A	14.37:g.77294855G>A	ENSP00000216453:p.Glu61Lys			Missense_Mutation	SNP	NULL	p.E61K	ENST00000216453.5	37	c.181		14	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535863	0.45176	.	.	ENSG00000100565	ENST00000555189;ENST00000216453	.	.	.	4.42	3.52	0.40303	.	.	.	.	.	T	0.44726	0.1307	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37549	-0.9701	5	0.87932	D	0	.	8.8282	0.35067	0.1083:0.0:0.8917:0.0	.	.	.	.	K	104;61	.	ENSP00000216453:E61K	E	+	1	0	C14orf166B	76364608	0.000000	0.05858	0.002000	0.10522	0.054000	0.15201	-3.287000	0.00526	1.165000	0.42670	0.655000	0.94253	GAG	C14orf166B	-	NULL		0.582	C14orf166B-201	KNOWN	basic	protein_coding	C14orf166B	HGNC	protein_coding		G			77294855	+1	no_errors	ENST00000216453	ensembl	human	known	70_37	missense	SNP	0.003	A
C17orf51	339263	genome.wustl.edu	37	17	21476531	21476531	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:21476531C>T	ENST00000535846.1	-	1	219				RP11-822E23.6_ENST00000536958.2_RNA|RP11-822E23.8_ENST00000426261.2_RNA			A8MQB3	CQ051_HUMAN	chromosome 17 open reading frame 51											endometrium(1)	1						cCAGGGTCATCAGACCTGCGC	0.517																																																	0																																										SO:0001627	intron_variant	339263			BC010612	CCDS45629.1	17p11.2	2012-10-11			ENSG00000212719	ENSG00000212719			27904	protein-coding gene	gene with protein product							Standard	XM_005256621		Approved	FLJ12977, FLJ31874, FLJ33618	uc002gyw.4	A8MQB3	OTTHUMG00000132832	ENST00000535846.1:c.489+972G>A	17.37:g.21476531C>T			B2RN29|B5MCL4	RNA	SNP	-	NULL	ENST00000535846.1	37	NULL		17																																																																																			C17orf51	-	-		0.517	C17orf51-003	KNOWN	basic|readthrough_transcript	processed_transcript	C17orf51	HGNC	protein_coding	OTTHUMT00000395737.1	C	NM_001113434		21476531	-1	no_errors	ENST00000426261	ensembl	human	known	70_37	rna	SNP	0.042	T
C17orf47	284083	genome.wustl.edu	37	17	56621168	56621168	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:56621168C>G	ENST00000321691.3	-	1	561	c.380G>C	c.(379-381)aGa>aCa	p.R127T	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	127										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTTCCTCTCTGGGTGGACT	0.517																																																	0													134.0	117.0	123.0					17																	56621168		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.380G>C	17.37:g.56621168C>G	ENSP00000354874:p.Arg127Thr		Q8N821	Missense_Mutation	SNP	NULL	p.R127T	ENST00000321691.3	37	c.380	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713805	0.30413	.	.	ENSG00000181013	ENST00000321691	T	0.35789	1.29	5.92	2.64	0.31445	.	0.166429	0.42172	D	0.000742	T	0.22627	0.0546	N	0.20986	0.625	0.09310	N	1	B	0.26195	0.144	B	0.27715	0.082	T	0.17018	-1.0383	10	0.54805	T	0.06	-4.9169	7.1844	0.25791	0.0:0.6752:0.1544:0.1704	.	127	Q8NEP4	CQ047_HUMAN	T	127	ENSP00000354874:R127T	ENSP00000354874:R127T	R	-	2	0	C17orf47	53976167	0.075000	0.21258	0.098000	0.21074	0.014000	0.08584	-0.014000	0.12656	0.860000	0.35481	0.655000	0.94253	AGA	C17orf47	-	NULL		0.517	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	C	NM_001038704		56621168	-1	no_errors	ENST00000321691	ensembl	human	known	70_37	missense	SNP	0.067	G
C17orf70	80233	genome.wustl.edu	37	17	79516320	79516320	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:79516320C>G	ENST00000327787.8	-	4	1361	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Missense_Mutation_p.E288Q			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	439					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCAGGCATCTCAGAGTCCAGG	0.592																																																	0													52.0	48.0	49.0					17																	79516320		2203	4300	6503	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1315G>C	17.37:g.79516320C>G	ENSP00000333283:p.Glu439Gln		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.E439Q	ENST00000327787.8	37	c.1315	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931070	0.52866	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246	T;T	0.36340	1.26;1.26	5.17	0.856	0.19019	.	0.234553	0.33457	N	0.004886	T	0.31071	0.0785	M	0.64997	1.995	0.09310	N	1	P	0.36535	0.557	B	0.33521	0.165	T	0.17684	-1.0361	10	0.66056	D	0.02	.	8.9289	0.35657	0.0:0.6939:0.0:0.3061	.	439	Q0VG06	FP100_HUMAN	Q	439;288;288	ENSP00000333283:E439Q;ENSP00000440151:E288Q	ENSP00000333283:E439Q	E	-	1	0	C17orf70	77126762	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	1.058000	0.30504	-0.047000	0.13423	0.650000	0.86243	GAG	C17orf70	-	NULL		0.592	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	C	NM_025161		79516320	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.001	G
HSPB6	126393	genome.wustl.edu	37	19	36249077	36249077	+	5'Flank	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:36249077G>A	ENST00000592984.1	-	0	0				C19orf55_ENST00000544099.1_5'UTR|C19orf55_ENST00000537459.1_5'Flank|HSPB6_ENST00000004982.3_5'Flank|C19orf55_ENST00000421853.2_5'Flank|AC002398.12_ENST00000587767.1_RNA|HSPB6_ENST00000587965.1_5'Flank|C19orf55_ENST00000536950.1_5'Flank|C19orf55_ENST00000396908.4_5'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGTTGGGTGAAGGAGCAGA	0.711																																																	0													10.0	14.0	12.0					19																	36249077		1918	4090	6008	SO:0001631	upstream_gene_variant	148137			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36249077G>A	Exception_encountered		O14551|Q6NVI3|Q96MG9	RNA	SNP	-	NULL	ENST00000592984.1	37	NULL	CCDS12475.1	19																																																																																			C19orf55	-	-		0.711	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000109498.3	G	NM_144617		36249077	+1	no_errors	ENST00000544876	ensembl	human	putative	70_37	rna	SNP	0.000	A
C1QTNF6	114904	genome.wustl.edu	37	22	37576362	37576362	+	3'UTR	SNP	G	G	A	rs8279	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:37576362G>A	ENST00000337843.2	-	0	2778				C1QTNF6_ENST00000397110.2_3'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6						protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CGGCTCCTCGGCTGTGAGCAC	0.652													G|||	340	0.0678914	0.0136	0.1167	5008	,	,		17049	0.0		0.2018	False		,,,				2504	0.0389																0																																										SO:0001624	3_prime_UTR_variant	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.*1866C>T	22.37:g.37576362G>A			Q5H9G8|Q6ZRM7	RNA	SNP	-	NULL	ENST00000337843.2	37	NULL	CCDS13943.1	22																																																																																			C1QTNF6	-	-		0.652	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	G	NM_182486		37576362	-1	no_errors	ENST00000470655	ensembl	human	known	70_37	rna	SNP	0.009	A
C1orf123	54987	genome.wustl.edu	37	1	53685956	53685956	+	Missense_Mutation	SNP	C	C	T	rs377269419		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:53685956C>T	ENST00000294360.4	-	2	108	c.67G>A	c.(67-69)Gag>Aag	p.E23K	C1orf123_ENST00000470385.1_5'UTR|RP5-1024G6.7_ENST00000569869.1_RNA	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	23						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CGGAAGTCCTCGCCCACGGGC	0.672																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	49.0	53.0	51.0		67	4.2	1.0	1		51	0,8600		0,0,4300	no	missense	C1orf123	NM_017887.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	23/161	53685956	1,13005	2203	4300	6503	SO:0001583	missense	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.67G>A	1.37:g.53685956C>T	ENSP00000294360:p.Glu23Lys			Missense_Mutation	SNP	pfam_DUF866_euk	p.E23K	ENST00000294360.4	37	c.67	CCDS576.1	1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361683	0.61403	2.27E-4	0.0	ENSG00000162384	ENST00000294360;ENST00000371480	.	.	.	6.07	4.2	0.49525	.	0.107337	0.64402	D	0.000009	T	0.58666	0.2138	M	0.74546	2.27	0.58432	D	0.999992	D	0.54964	0.969	B	0.43838	0.433	T	0.61671	-0.7015	9	0.48119	T	0.1	-30.6724	11.6416	0.51235	0.1249:0.8111:0.0:0.064	.	23	Q9NWV4	CA123_HUMAN	K	23	.	ENSP00000294360:E23K	E	-	1	0	C1orf123	53458544	0.995000	0.38212	1.000000	0.80357	0.003000	0.03518	3.318000	0.51975	0.888000	0.36160	-0.961000	0.02630	GAG	C1orf123	-	pfam_DUF866_euk		0.672	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	C	NM_017887		53685956	-1	no_errors	ENST00000294360	ensembl	human	known	70_37	missense	SNP	1.000	T
C1orf177	163747	genome.wustl.edu	37	1	55273258	55273258	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:55273258G>A	ENST00000371273.3	+	3	267	c.252G>A	c.(250-252)ctG>ctA	p.L84L	C1orf177_ENST00000358193.3_Silent_p.L84L	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	84										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AGAAGAAGCTGATGAAGGAGG	0.597																																																	0													28.0	29.0	29.0					1																	55273258		2203	4300	6503	SO:0001819	synonymous_variant	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.252G>A	1.37:g.55273258G>A			B7WPL2|Q8N7Y9	Silent	SNP	NULL	p.L84	ENST00000371273.3	37	c.252	CCDS44153.1	1																																																																																			C1orf177	-	NULL		0.597	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	G	NM_152607		55273258	+1	no_errors	ENST00000371273	ensembl	human	known	70_37	silent	SNP	0.660	A
C1orf74	148304	genome.wustl.edu	37	1	209956597	209956597	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:209956597G>A	ENST00000294811.1	-	2	639	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	128										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CTGGTCCAGGGAGCAGACAGA	0.552																																																	0													58.0	54.0	55.0					1																	209956597		2203	4300	6503	SO:0001583	missense	148304			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.383C>T	1.37:g.209956597G>A	ENSP00000294811:p.Ser128Phe			Missense_Mutation	SNP	NULL	p.S128F	ENST00000294811.1	37	c.383	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	G	7.183	0.589937	0.13812	.	.	ENSG00000162757	ENST00000294811	T	0.49432	0.78	5.61	4.7	0.59300	.	0.561994	0.18299	N	0.145473	T	0.41073	0.1143	L	0.60455	1.87	0.09310	N	0.999994	B	0.12630	0.006	B	0.14023	0.01	T	0.31668	-0.9935	10	0.37606	T	0.19	-3.1143	6.5344	0.22344	0.0731:0.1284:0.6661:0.1324	.	128	Q96LT6	CA074_HUMAN	F	128	ENSP00000294811:S128F	ENSP00000294811:S128F	S	-	2	0	C1orf74	208023220	0.001000	0.12720	0.746000	0.31095	0.406000	0.30931	0.183000	0.16919	1.390000	0.46547	0.655000	0.94253	TCC	C1orf74	-	NULL		0.552	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf74	HGNC	protein_coding	OTTHUMT00000088745.1	G	NM_152485		209956597	-1	no_errors	ENST00000294811	ensembl	human	known	70_37	missense	SNP	0.106	A
C2CD2	25966	genome.wustl.edu	37	21	43334767	43334767	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:43334767C>T	ENST00000380486.3	-	6	1025	c.784G>A	c.(784-786)Gag>Aag	p.E262K	C2CD2_ENST00000329623.7_Missense_Mutation_p.E107K	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	262						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCTTCAGCTCGTGAGCCCTT	0.527																																																	0													111.0	94.0	99.0					21																	43334767		2203	4300	6503	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.784G>A	21.37:g.43334767C>T	ENSP00000369853:p.Glu262Lys		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E262K	ENST00000380486.3	37	c.784	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341763	0.24339	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.75704	-0.96;-0.96	5.51	3.36	0.38483	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.313935	0.33631	N	0.004705	T	0.56673	0.2001	N	0.25647	0.755	0.45025	D	0.998046	B;B	0.31413	0.322;0.233	B;B	0.24394	0.036;0.053	T	0.52711	-0.8539	10	0.14252	T	0.57	-8.5805	12.9951	0.58642	0.0:0.8441:0.0:0.1559	.	107;262	Q6P6D1;Q9Y426	.;CU025_HUMAN	K	107;262	ENSP00000329302:E107K;ENSP00000369853:E262K	ENSP00000329302:E107K	E	-	1	0	C2CD2	42207836	0.998000	0.40836	0.019000	0.16419	0.009000	0.06853	3.911000	0.56378	1.329000	0.45376	0.655000	0.94253	GAG	C2CD2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.527	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	C	NM_015500		43334767	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	missense	SNP	0.865	T
C2orf44	80304	genome.wustl.edu	37	2	24261115	24261115	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24261115G>A	ENST00000295148.4	-	2	1307	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	C2orf44_ENST00000406895.3_Missense_Mutation_p.S417L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	417									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGACTTTGAAGAAGGAAG	0.353			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													118.0	123.0	121.0					2																	24261115		2203	4300	6503	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1250C>T	2.37:g.24261115G>A	ENSP00000295148:p.Ser417Leu		D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	NULL	p.S417L	ENST00000295148.4	37	c.1250	CCDS1705.1	2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608946	0.66558	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.60797	0.16;0.16	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78580	-0.2149	10	0.87932	D	0	-12.0453	19.5062	0.95116	0.0:0.0:1.0:0.0	.	417;417	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	L	417	ENSP00000295148:S417L;ENSP00000385816:S417L	ENSP00000295148:S417L	S	-	2	0	C2orf44	24114619	1.000000	0.71417	0.988000	0.46212	0.206000	0.24218	9.476000	0.97823	2.701000	0.92244	0.655000	0.94253	TCA	C2orf44	-	NULL		0.353	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	G	NM_025203		24261115	-1	no_errors	ENST00000295148	ensembl	human	known	70_37	missense	SNP	1.000	A
C2orf44	80304	genome.wustl.edu	37	2	24261742	24261742	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24261742G>C	ENST00000295148.4	-	2	680	c.623C>G	c.(622-624)tCc>tGc	p.S208C	C2orf44_ENST00000406895.3_Missense_Mutation_p.S208C	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	208									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGATGGAGCAGACGTG	0.488			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													55.0	52.0	53.0					2																	24261742		2203	4300	6503	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.623C>G	2.37:g.24261742G>C	ENSP00000295148:p.Ser208Cys		D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	NULL	p.S208C	ENST00000295148.4	37	c.623	CCDS1705.1	2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359775	0.41801	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.53857	0.6;0.6	5.51	3.63	0.41609	WD40/YVTN repeat-like-containing domain (1);	0.207418	0.49305	N	0.000145	T	0.50718	0.1632	L	0.54323	1.7	0.35395	D	0.791078	B;B	0.20671	0.047;0.047	B;B	0.22386	0.039;0.039	T	0.59830	-0.7380	10	0.87932	D	0	-2.8768	15.8206	0.78638	0.0:0.2779:0.7221:0.0	.	208;208	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	C	208	ENSP00000295148:S208C;ENSP00000385816:S208C	ENSP00000295148:S208C	S	-	2	0	C2orf44	24115246	1.000000	0.71417	0.484000	0.27391	0.789000	0.44602	5.345000	0.65987	0.740000	0.32651	0.655000	0.94253	TCC	C2orf44	-	NULL		0.488	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	G	NM_025203		24261742	-1	no_errors	ENST00000295148	ensembl	human	known	70_37	missense	SNP	1.000	C
C2orf81	388963	genome.wustl.edu	37	2	74642114	74642114	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:74642114G>A	ENST00000517883.1	-	1	1596	c.905C>T	c.(904-906)tCt>tTt	p.S302F	C2orf81_ENST00000290390.5_Missense_Mutation_p.S370F			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	363										endometrium(3)|kidney(1)	4						GCGTGTTTGAGAGTCTGGGAC	0.711																																																	0													9.0	12.0	11.0					2																	74642114		690	1588	2278	SO:0001583	missense	388963			AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.905C>T	2.37:g.74642114G>A	ENSP00000431103:p.Ser302Phe			Missense_Mutation	SNP	NULL	p.S370F	ENST00000517883.1	37	c.1109		2	.	.	.	.	.	.	.	.	.	.	g	15.73	2.920032	0.52653	.	.	ENSG00000159239	ENST00000517883;ENST00000290390	.	.	.	4.33	1.33	0.21861	.	1.307610	0.05144	N	0.494803	T	0.39572	0.1083	L	0.51422	1.61	0.09310	N	1	P	0.43701	0.815	P	0.48840	0.592	T	0.18398	-1.0338	9	0.38643	T	0.18	-1.7298	3.2133	0.06690	0.2108:0.0:0.4298:0.3594	.	370	G3XAA6	.	F	302;370	.	ENSP00000290390:S370F	S	-	2	0	C2orf81	74495622	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.336000	0.19823	0.147000	0.19030	0.556000	0.70494	TCT	C2orf81	-	NULL		0.711	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	C2orf81	HGNC	protein_coding	OTTHUMT00000377683.1	G	NM_001145054		74642114	-1	no_errors	ENST00000290390	ensembl	human	known	70_37	missense	SNP	0.000	A
C3orf70	285382	genome.wustl.edu	37	3	184800813	184800813	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:184800813C>T	ENST00000335012.2	-	2	925	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	245										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TCGTTTCTATCGTTTCAATCA	0.522																																																	0													123.0	126.0	125.0					3																	184800813		2203	4300	6503	SO:0001819	synonymous_variant	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.735G>A	3.37:g.184800813C>T			B2RNY2|B9EH83	Silent	SNP	NULL	p.T245	ENST00000335012.2	37	c.735	CCDS33900.1	3																																																																																			C3orf70	-	NULL		0.522	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	C	NM_001025266		184800813	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	silent	SNP	0.000	T
C4orf36	132989	genome.wustl.edu	37	4	87809429	87809429	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:87809429C>G	ENST00000473559.1	-	6	729		c.e6-1		C4orf36_ENST00000503001.1_Intron|C4orf36_ENST00000295898.3_Splice_Site			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36											breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGGTTCCTGTCTGGGGCAAAA	0.378																																																	0													67.0	65.0	66.0					4																	87809429		2203	4300	6503	SO:0001630	splice_region_variant	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.66-1G>C	4.37:g.87809429C>G				Splice_Site	SNP	-	e2-1	ENST00000473559.1	37	c.66-1	CCDS3615.1	4	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434482	0.43224	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	.	.	.	4.96	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5594	0.45135	0.1927:0.8073:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C4orf36	88028453	1.000000	0.71417	0.999000	0.59377	0.765000	0.43378	3.343000	0.52167	1.302000	0.44855	0.591000	0.81541	.	C4orf36	-	-		0.378	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	C	NM_144645	Intron	87809429	-1	no_errors	ENST00000295898	ensembl	human	known	70_37	splice_site	SNP	1.000	G
ZGRF1	55345	genome.wustl.edu	37	4	113538800	113538800	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:113538800C>G	ENST00000505019.1	-	6	2523	c.2398G>C	c.(2398-2400)Gag>Cag	p.E800Q	C4orf21_ENST00000445203.2_Missense_Mutation_p.E769Q|C4orf21_ENST00000309071.5_Missense_Mutation_p.E800Q	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		800						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTTCAACCTCAACATGGTCA	0.388																																																	0													78.0	71.0	74.0					4																	113538800		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.2398G>C	4.37:g.113538800C>G	ENSP00000424737:p.Glu800Gln		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.E800Q	ENST00000505019.1	37	c.2398		4	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761735	0.31228	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83250	-1.7;1.81;1.39	5.98	4.0	0.46444	.	0.471978	0.20005	N	0.101248	D	0.82300	0.5007	L	0.47716	1.5	0.09310	N	1	D;D	0.53619	0.961;0.96	P;P	0.52758	0.708;0.55	T	0.73946	-0.3822	10	0.66056	D	0.02	-7.5699	7.9738	0.30143	0.0:0.7296:0.0:0.2704	.	800;800	Q86YA3;G5EA02	CD021_HUMAN;.	Q	800;800;769	ENSP00000424737:E800Q;ENSP00000309095:E800Q;ENSP00000390505:E769Q	ENSP00000309095:E800Q	E	-	1	0	C4orf21	113758249	0.001000	0.12720	0.014000	0.15608	0.025000	0.11179	0.069000	0.14552	1.510000	0.48803	0.655000	0.94253	GAG	C4orf21	-	NULL		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113538800	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.004	G
C5orf45	51149	genome.wustl.edu	37	5	179280283	179280283	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:179280283G>C	ENST00000292586.6	-	2	217				C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_Intron|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000523084.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45											breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AACTCTGTTTGAGAGAGGATG	0.547																																																	0																																										SO:0001627	intron_variant	51149				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.126+94C>G	5.37:g.179280283G>C			B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Nonsense_Mutation	SNP	NULL	p.S74*	ENST00000292586.6	37	c.221	CCDS34319.1	5																																																																																			C5orf45	-	NULL		0.547	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2	G	NM_016175		179280283	-1	no_errors	ENST00000522157	ensembl	human	known	70_37	nonsense	SNP	0.002	C
C6orf211	79624	genome.wustl.edu	37	6	151789521	151789521	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:151789521G>A	ENST00000367294.3	+	5	861	c.602G>A	c.(601-603)gGa>gAa	p.G201E	C6orf211_ENST00000545879.1_Missense_Mutation_p.G82E	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	201										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CTCTCAGGTGGAGAAAGTAGT	0.353																																																	0													84.0	89.0	87.0					6																	151789521		2203	4299	6502	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.602G>A	6.37:g.151789521G>A	ENSP00000356263:p.Gly201Glu		Q96FC6|Q9UFY5	Missense_Mutation	SNP	pfam_DUF89,superfamily_DUF89	p.G201E	ENST00000367294.3	37	c.602	CCDS5233.1	6	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941726	0.53079	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.05996	3.36;3.36	5.69	4.81	0.61882	Domain of unknown function DUF89 (2);	0.097740	0.64402	D	0.000001	T	0.10121	0.0248	M	0.78049	2.395	0.80722	D	1	P	0.40834	0.73	P	0.49477	0.612	T	0.04128	-1.0975	10	0.27785	T	0.31	.	15.0557	0.71912	0.0693:0.0:0.9307:0.0	.	201	Q9H993	CF211_HUMAN	E	201;82	ENSP00000356263:G201E;ENSP00000444121:G82E	ENSP00000356263:G201E	G	+	2	0	C6orf211	151831214	1.000000	0.71417	0.225000	0.23894	0.052000	0.14988	7.614000	0.82996	2.676000	0.91093	0.561000	0.74099	GGA	C6orf211	-	pfam_DUF89,superfamily_DUF89		0.353	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf211	HGNC	protein_coding	OTTHUMT00000042724.1	G	NM_024573		151789521	+1	no_errors	ENST00000367294	ensembl	human	known	70_37	missense	SNP	0.999	A
C8B	732	genome.wustl.edu	37	1	57406596	57406596	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:57406596C>G	ENST00000371237.4	-	9	1390	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	C8B_ENST00000535057.1_Missense_Mutation_p.E380Q|C8B_ENST00000543257.1_Missense_Mutation_p.E390Q	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	442	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTCGGCAGCTCCTGGTATGCC	0.572																																																	0													149.0	111.0	124.0					1																	57406596		2203	4300	6503	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1324G>C	1.37:g.57406596C>G	ENSP00000360281:p.Glu442Gln		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.E442Q	ENST00000371237.4	37	c.1324	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	C	3.994	-0.003824	0.07773	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.27256	1.86;1.86;1.68	5.36	2.36	0.29203	Membrane attack complex component/perforin (MACPF) domain (3);	0.709272	0.14902	N	0.291743	T	0.15869	0.0382	N	0.25144	0.715	0.09310	N	1	B;B;B	0.15473	0.006;0.006;0.013	B;B;B	0.15052	0.005;0.007;0.012	T	0.26608	-1.0098	10	0.15066	T	0.55	-1.2338	11.3348	0.49498	0.0:0.6941:0.2387:0.0672	.	390;380;442	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Q	442;390;380	ENSP00000360281:E442Q;ENSP00000442548:E390Q;ENSP00000440113:E380Q	ENSP00000360281:E442Q	E	-	1	0	C8B	57179184	0.325000	0.24660	0.016000	0.15963	0.139000	0.21198	1.588000	0.36633	0.712000	0.32039	0.655000	0.94253	GAG	C8B	-	pfam_MACPF,smart_MACPF		0.572	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	C			57406596	-1	no_errors	ENST00000371237	ensembl	human	known	70_37	missense	SNP	0.058	G
C8orf46	254778	genome.wustl.edu	37	8	67408707	67408707	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:67408707C>G	ENST00000305454.3	+	2	547	c.106C>G	c.(106-108)Cag>Gag	p.Q36E	C8orf46_ENST00000521495.1_Missense_Mutation_p.Q36E|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q36E|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q36E	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	36										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAAAGCTCTCAGCACCTCTT	0.418																																																	0													149.0	135.0	140.0					8																	67408707		2203	4300	6503	SO:0001583	missense	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.106C>G	8.37:g.67408707C>G	ENSP00000302260:p.Gln36Glu		B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.Q36E	ENST00000305454.3	37	c.106	CCDS6191.2	8	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139118	0.56936	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	6.06	6.06	0.98353	.	0.174548	0.41396	D	0.000899	T	0.46054	0.1373	L	0.34521	1.04	0.32317	N	0.562877	P;P	0.44429	0.835;0.604	B;B	0.43889	0.435;0.197	T	0.57136	-0.7863	9	0.72032	D	0.01	-4.8668	18.8014	0.92018	0.0:1.0:0.0:0.0	.	36;36	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	E	36	.	ENSP00000302260:Q36E	Q	+	1	0	C8orf46	67571261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.994000	0.63901	2.882000	0.98803	0.655000	0.94253	CAG	C8orf46	-	NULL		0.418	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	C	NM_152765		67408707	+1	no_errors	ENST00000305454	ensembl	human	known	70_37	missense	SNP	1.000	G
C8orf34	116328	genome.wustl.edu	37	8	69243481	69243481	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:69243481C>G	ENST00000539993.1	+	0	525				RP11-664D7.4_ENST00000512294.3_Intron|C8orf34_ENST00000518698.1_Silent_p.L78L|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000523686.1_5'UTR|C8orf34_ENST00000348340.2_5'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCCCTGCACTCTCTTCGCGGT	0.642																																																	0																																										SO:0001623	5_prime_UTR_variant	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.-25C>G	8.37:g.69243481C>G			A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.L78	ENST00000539993.1	37	c.234		8																																																																																			C8orf34	-	NULL		0.642	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		C	NM_052958		69243481	+1	no_errors	ENST00000518698	ensembl	human	known	70_37	silent	SNP	0.000	G
C8orf58	541565	genome.wustl.edu	37	8	22460053	22460053	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:22460053G>A	ENST00000289989.5	+	6	957	c.883G>A	c.(883-885)Gat>Aat	p.D295N	CCAR2_ENST00000521301.1_5'Flank|CCAR2_ENST00000389279.3_5'Flank|C8orf58_ENST00000409586.3_Intron|CCAR2_ENST00000308511.4_5'Flank			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	295										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGCTCAGCGGGATATCTCCCA	0.647																																																	0													59.0	58.0	58.0					8																	22460053		2203	4300	6503	SO:0001583	missense	541565			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.883G>A	8.37:g.22460053G>A	ENSP00000289989:p.Asp295Asn		B4DI44	Missense_Mutation	SNP	NULL	p.D295N	ENST00000289989.5	37	c.883	CCDS34862.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.36|16.36	3.100144|3.100144	0.56183|0.56183	.|.	.|.	ENSG00000241852|ENSG00000241852	ENST00000289989;ENST00000381191|ENST00000495957	.|.	.|.	.|.	5.14|5.14	4.06|4.06	0.47325|0.47325	.|.	0.288191|.	0.24967|.	N|.	0.034163|.	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.48877|0.48877	1.53|1.53	0.09310|0.09310	N|N	1|1	D|.	0.56746|.	0.977|.	P|.	0.55923|.	0.787|.	T|T	0.23691|0.23691	-1.0181|-1.0181	9|5	0.72032|.	D|.	0.01|.	-7.8729|-7.8729	9.4645|9.4645	0.38804|0.38804	0.1134:0.0:0.8866:0.0|0.1134:0.0:0.8866:0.0	.|.	295|.	Q8NAV2|.	CH058_HUMAN|.	N|E	295;223|140	.|.	ENSP00000289989:D295N|.	D|G	+|+	1|2	0|0	C8orf58|C8orf58	22515998|22515998	0.949000|0.949000	0.32298|0.32298	0.888000|0.888000	0.34837|0.34837	0.816000|0.816000	0.46133|0.46133	2.322000|2.322000	0.43814|0.43814	2.400000|2.400000	0.81607|0.81607	0.448000|0.448000	0.29417|0.29417	GAT|GGA	C8orf58	-	NULL		0.647	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	G	NM_001013842		22460053	+1	no_errors	ENST00000289989	ensembl	human	known	70_37	missense	SNP	0.034	A
ERICH5	203111	genome.wustl.edu	37	8	99102059	99102059	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:99102059G>C	ENST00000318528.3	+	2	1173	c.814G>C	c.(814-816)Gac>Cac	p.D272H	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		272	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AGAAGTATTGGACAGAAGTCA	0.438																																																	0													84.0	78.0	80.0					8																	99102059		2203	4300	6503	SO:0001583	missense	203111																														ENST00000318528.3:c.814G>C	8.37:g.99102059G>C	ENSP00000315614:p.Asp272His		G3V1K4|Q8N1L8	Missense_Mutation	SNP	NULL	p.D272H	ENST00000318528.3	37	c.814	CCDS34929.1	8	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377972	0.42105	.	.	ENSG00000177459	ENST00000318528	T	0.30182	1.54	4.93	3.12	0.35913	.	0.844764	0.10320	N	0.688916	T	0.36468	0.0968	L	0.47716	1.5	0.09310	N	0.999998	D	0.55800	0.973	P	0.53593	0.73	T	0.13335	-1.0513	10	0.46703	T	0.11	0.001	5.8771	0.18834	0.0968:0.0:0.7138:0.1894	.	272	Q6P6B1	CH047_HUMAN	H	272	ENSP00000315614:D272H	ENSP00000315614:D272H	D	+	1	0	C8orf47	99171235	0.040000	0.19996	0.029000	0.17559	0.054000	0.15201	0.651000	0.24873	0.658000	0.30925	0.655000	0.94253	GAC	C8orf47	-	NULL		0.438	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	HGNC	protein_coding	OTTHUMT00000380465.1	G			99102059	+1	no_errors	ENST00000318528	ensembl	human	known	70_37	missense	SNP	0.061	C
C9orf78	51759	genome.wustl.edu	37	9	132590389	132590389	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:132590389G>A	ENST00000372447.3	-	0	974				C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78							cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATTTTTCATGGGAGGGATAT	0.522																																																	0													110.0	101.0	104.0					9																	132590389		2203	4300	6503	SO:0001624	3_prime_UTR_variant	51759			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.*51C>T	9.37:g.132590389G>A			B3KPX8|Q8WVU6|Q9NT39	RNA	SNP	-	NULL	ENST00000372447.3	37	NULL	CCDS6931.1	9																																																																																			C9orf78	-	-		0.522	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1	G	NM_016520		132590389	-1	no_errors	ENST00000461349	ensembl	human	known	70_37	rna	SNP	0.000	A
ARRDC1-AS1	85026	genome.wustl.edu	37	9	140510342	140510342	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:140510342C>G	ENST00000371417.3	-	3	850	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		104										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CAGCATTTCTCAAAGGGGCAT	0.622																																																	0													62.0	64.0	63.0					9																	140510342		2203	4300	6503	SO:0001583	missense	85026																														ENST00000371417.3:c.310G>C	9.37:g.140510342C>G	ENSP00000360471:p.Glu104Gln		Q17RM5|Q5T368	Missense_Mutation	SNP	NULL	p.E104Q	ENST00000371417.3	37	c.310	CCDS35189.1	9	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046141	0.36085	.	.	ENSG00000203993	ENST00000371417	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.33288	0.406	B	0.31547	0.132	T	0.13872	-1.0493	8	0.29301	T	0.29	.	6.9832	0.24713	0.0:1.0:0.0:0.0	.	104	Q9H2J1	CI037_HUMAN	Q	104	.	ENSP00000360471:E104Q	E	-	1	0	C9orf37	139630163	0.000000	0.05858	0.007000	0.13788	0.032000	0.12392	0.022000	0.13511	1.291000	0.44653	0.456000	0.33151	GAG	C9orf37	-	NULL		0.622	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf37	HGNC	protein_coding	OTTHUMT00000055328.1	C			140510342	-1	no_errors	ENST00000371417	ensembl	human	known	70_37	missense	SNP	0.036	G
CABYR	26256	genome.wustl.edu	37	18	21735985	21735985	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:21735985C>A	ENST00000399496.3	+	4	685	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	CABYR_ENST00000581397.1_Missense_Mutation_p.Q174K|CABYR_ENST00000399499.1_Missense_Mutation_p.Q174K|CABYR_ENST00000327201.6_Missense_Mutation_p.Q76K|CABYR_ENST00000399481.2_Missense_Mutation_p.Q76K|CABYR_ENST00000415309.2_Missense_Mutation_p.Q174K	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	174					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TGACCCAGCTCAGCTTGCTGC	0.478																																																	0													129.0	98.0	109.0					18																	21735985		2203	4300	6503	SO:0001583	missense	26256			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.520C>A	18.37:g.21735985C>A	ENSP00000382419:p.Gln174Lys		B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.Q174K	ENST00000399496.3	37	c.520	CCDS42420.1	18	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518648	0.64634	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399481;ENST00000327201;ENST00000399499	T;T;T;T	0.57107	0.42;1.39;1.35;0.42	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000013	T	0.70046	0.3179	L	0.54323	1.7	0.39003	D	0.959383	D;D;D;D	0.89917	1.0;0.997;0.998;0.997	D;D;D;D	0.87578	0.998;0.966;0.991;0.989	T	0.72074	-0.4400	10	0.87932	D	0	-11.8788	18.2023	0.89842	0.0:1.0:0.0:0.0	.	156;174;174;174	O75952-2;O75952-4;O75952-3;O75952	.;.;.;CABYR_HUMAN	K	174;174;76;76;174	ENSP00000382419:Q174K;ENSP00000399973:Q174K;ENSP00000382404:Q76K;ENSP00000382421:Q174K	ENSP00000317095:Q76K	Q	+	1	0	CABYR	19989983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	2.833000	0.97629	0.655000	0.94253	CAG	CABYR	-	NULL		0.478	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABYR	HGNC	protein_coding	OTTHUMT00000090926.2	C	NM_153770		21735985	+1	no_errors	ENST00000463087	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1C	775	genome.wustl.edu	37	12	2788756	2788756	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:2788756G>C	ENST00000347598.4	+	44	5382	c.5382G>C	c.(5380-5382)gaG>gaC	p.E1794D	CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1771D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1766D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1763D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1774D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1765D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1754D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1752D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1754D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1746D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1765D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1765D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1787D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1794					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCCCACGAGAAGCTGGTGG	0.657																																																	0													66.0	80.0	75.0					12																	2788756		2170	4262	6432	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5382G>C	12.37:g.2788756G>C	ENSP00000266376:p.Glu1794Asp		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1746D	ENST00000347598.4	37	c.5238	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419897	0.25552	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96300	-3.92;-3.92;-3.91;-3.9;-3.91;-3.93;-3.83;-3.86;-3.92;-3.83;-3.84;-3.92;-3.96;-3.83;-3.74;-3.97;-3.93;-3.91;-3.94;-3.84;-3.93;-3.97	4.63	4.63	0.57726	.	7739.210000	0.00166	N	0.000000	D	0.97663	0.9234	L	0.57536	1.79	0.47123	D	0.99932	P;D;P;B;D;P;P;P;B;B;P;P;P;P;P;P;P;B;P;B;P;P;P;P;P	0.67145	0.57;0.996;0.739;0.133;0.993;0.888;0.571;0.816;0.356;0.351;0.816;0.571;0.571;0.812;0.622;0.715;0.739;0.206;0.887;0.001;0.571;0.888;0.816;0.835;0.739	B;D;B;B;D;P;B;P;B;B;P;B;B;P;B;P;B;B;B;B;B;P;B;B;B	0.77557	0.09;0.923;0.291;0.09;0.99;0.624;0.229;0.469;0.185;0.146;0.469;0.124;0.163;0.624;0.079;0.489;0.291;0.185;0.297;0.012;0.229;0.624;0.375;0.269;0.291	D	0.91094	0.4909	10	0.21014	T	0.42	.	12.166	0.54131	0.0824:0.0:0.9176:0.0	.	437;1787;1743;1794;1746;1765;1746;1763;1774;1746;1766;1746;1706;1794;1746;1746;1746;1754;1752;1754;1735;1765;1765;1746;1746	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	1771;1746;1746;1774;1746;1765;1765;1754;1746;1794;1766;1746;1787;1763;1746;1752;1765;1746;1746;1746;1746;1754;1576	ENSP00000336982:E1771D;ENSP00000382563:E1746D;ENSP00000382552:E1746D;ENSP00000382547:E1774D;ENSP00000382506:E1746D;ENSP00000382530:E1765D;ENSP00000382546:E1765D;ENSP00000382500:E1754D;ENSP00000382549:E1746D;ENSP00000266376:E1794D;ENSP00000382515:E1766D;ENSP00000382510:E1746D;ENSP00000341092:E1787D;ENSP00000382537:E1763D;ENSP00000329877:E1746D;ENSP00000382557:E1752D;ENSP00000385724:E1765D;ENSP00000382512:E1746D;ENSP00000382542:E1746D;ENSP00000382526:E1746D;ENSP00000385896:E1746D;ENSP00000382504:E1754D	ENSP00000323129:E1576D	E	+	3	2	CACNA1C	2659017	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	3.923000	0.56469	2.406000	0.81754	0.305000	0.20034	GAG	CACNA1C	-	prints_VDCC_L_a1csu		0.657	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2788756	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	C
CACNB1	782	genome.wustl.edu	37	17	37331542	37331542	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:37331542C>T	ENST00000394303.3	-	14	1908	c.1701G>A	c.(1699-1701)cgG>cgA	p.R567R	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	567					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCCTTATTCCGGCCCCGGT	0.647											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)												0													130.0	145.0	140.0					17																	37331542		1899	4099	5998	SO:0001819	synonymous_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1701G>A	17.37:g.37331542C>T		869	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.R567	ENST00000394303.3	37	c.1701	CCDS42311.1	17																																																																																			CACNB1	-	NULL		0.647	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	C			37331542	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	silent	SNP	1.000	T
CACNB3	784	genome.wustl.edu	37	12	49217216	49217216	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49217216G>C	ENST00000301050.2	+	2	334	c.135G>C	c.(133-135)gaG>gaC	p.E45D	CACNB3_ENST00000536187.2_Missense_Mutation_p.E44D|CACNB3_ENST00000547392.1_Missense_Mutation_p.E45D|CACNB3_ENST00000540990.1_Missense_Mutation_p.E32D|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000547230.1_Missense_Mutation_p.E45D	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	45					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAAGTAGAGAGCCAGGCTC	0.612																																																	0													46.0	39.0	42.0					12																	49217216		2203	4300	6503	SO:0001583	missense	784				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.135G>C	12.37:g.49217216G>C	ENSP00000301050:p.Glu45Asp		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.E45D	ENST00000301050.2	37	c.135	CCDS8769.1	12	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013206	0.54468	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000548279;ENST00000547230	D;D;D;D;D;T	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-0.21	4.68	4.68	0.58851	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.67145	0.99;0.996;0.993;0.992	D;D;D;D	0.77557	0.979;0.987;0.99;0.987	D	0.89767	0.3951	10	0.52906	T	0.07	-21.2795	16.5134	0.84293	0.0:0.0:1.0:0.0	.	44;32;32;45	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	D	32;44;45;45;45;45	ENSP00000445495:E32D;ENSP00000444160:E44D;ENSP00000446529:E45D;ENSP00000301050:E45D;ENSP00000449497:E45D;ENSP00000448304:E45D	ENSP00000301050:E45D	E	+	3	2	CACNB3	47503483	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.370000	0.59517	2.443000	0.82685	0.313000	0.20887	GAG	CACNB3	-	pfam_VDCC_L_bsu,superfamily_SH3_domain,prints_VDCC_L_b3su		0.612	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	G			49217216	+1	no_errors	ENST00000301050	ensembl	human	known	70_37	missense	SNP	1.000	C
CALM1	801	genome.wustl.edu	37	14	90870268	90870268	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:90870268G>A	ENST00000356978.4	+	4	489	c.241G>A	c.(241-243)Gat>Aat	p.D81N	CALM1_ENST00000544280.2_Missense_Mutation_p.D45N|CALM1_ENST00000553542.1_Missense_Mutation_p.D45N|CALM1_ENST00000447653.3_Missense_Mutation_p.D82N|RP11-471B22.2_ENST00000555853.1_RNA	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	81	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GAAAGATACAGATAGTGAAGA	0.388																																																	0													107.0	98.0	101.0					14																	90870268		2203	4300	6503	SO:0001583	missense	801				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.241G>A	14.37:g.90870268G>A	ENSP00000349467:p.Asp81Asn		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.D81N	ENST00000356978.4	37	c.241	CCDS9892.1	14	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489877	0.64074	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	.	.	.	0.80722	D	1	B;B	0.15719	0.009;0.014	B;B	0.16722	0.012;0.016	T	0.79722	-0.1684	9	0.87932	D	0	.	19.1394	0.93441	0.0:0.0:1.0:0.0	.	82;81	E7ETZ0;P62158	.;CALM_HUMAN	N	45;81;82;45;45	ENSP00000451062:D45N;ENSP00000349467:D81N;ENSP00000403491:D82N;ENSP00000450829:D45N;ENSP00000442853:D45N	ENSP00000349467:D81N	D	+	1	0	CALM1	89940021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.736000	0.98828	2.583000	0.87209	0.555000	0.69702	GAT	CALM1	-	pfam_EF-hand_Ca_insen,pfscan_EF_HAND_2		0.388	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CALM1	HGNC	protein_coding	OTTHUMT00000411346.1	G			90870268	+1	no_errors	ENST00000356978	ensembl	human	known	70_37	missense	SNP	1.000	A
CAMSAP2	23271	genome.wustl.edu	37	1	200784767	200784767	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:200784767C>G	ENST00000236925.4	+	4	689	c.640C>G	c.(640-642)Caa>Gaa	p.Q214E	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.Q214E|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Q214E			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	214	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCCAGGAGGTCAAAAGGTATT	0.274																																																	0													41.0	45.0	44.0					1																	200784767		2202	4290	6492	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.640C>G	1.37:g.200784767C>G	ENSP00000236925:p.Gln214Glu		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.Q214E	ENST00000236925.4	37	c.640		1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112186	0.56398	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.15718	2.46;2.47;2.4	5.39	5.39	0.77823	Calponin homology domain (2);	0.224065	0.41605	D	0.000853	T	0.20536	0.0494	L	0.35854	1.095	0.50171	D	0.999859	P;B;B	0.41450	0.75;0.425;0.372	B;B;B	0.42827	0.399;0.136;0.083	T	0.00726	-1.1592	10	0.41790	T	0.15	-25.9341	19.5078	0.95127	0.0:1.0:0.0:0.0	.	214;214;214	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	E	214	ENSP00000351684:Q214E;ENSP00000416800:Q214E;ENSP00000236925:Q214E	ENSP00000236925:Q214E	Q	+	1	0	CAMSAP1L1	199051390	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.381000	0.73163	2.676000	0.91093	0.655000	0.94253	CAA	CAMSAP2	-	pfam_CH-domain,superfamily_CH-domain		0.274	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200784767	+1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPN6	827	genome.wustl.edu	37	X	110491187	110491187	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:110491187G>A	ENST00000324068.1	-	11	1685	c.1518C>T	c.(1516-1518)tgC>tgT	p.C506C	CAPN6_ENST00000541758.1_Silent_p.C251C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	506					microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAGGTTCCAGCAGGACATTT	0.423																																																	0													201.0	187.0	192.0					X																	110491187		2203	4300	6503	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1518C>T	X.37:g.110491187G>A			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.C506	ENST00000324068.1	37	c.1518	CCDS14555.1	X																																																																																			CAPN6	-	NULL		0.423	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	G			110491187	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	silent	SNP	1.000	A
CAPN8	388743	genome.wustl.edu	37	1	223803797	223803797	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:223803797C>T	ENST00000366872.5	-	10	1182	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K				A6NHC0	CAN8_HUMAN	calpain 8	396					digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						TCCTGGTCCTCATCCACTTCA	0.562																																																	0													72.0	64.0	66.0					1																	223803797		692	1591	2283	SO:0001583	missense	388743				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366872.5:c.1183G>A	1.37:g.223803797C>T	ENSP00000355837:p.Glu395Lys		B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E395K	ENST00000366872.5	37	c.1183		1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276045	0.40294	.	.	ENSG00000203697	ENST00000366872;ENST00000419193	T;D	0.87809	0.9;-2.3	5.35	5.35	0.76521	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.246709	0.26863	U	0.022115	D	0.83422	0.5251	L	0.49350	1.555	0.38958	D	0.958492	B	0.29766	0.256	B	0.24155	0.051	D	0.83954	0.0318	10	0.62326	D	0.03	.	14.3213	0.66489	0.0:0.8516:0.1484:0.0	.	396	A6NHC0	CAN8_HUMAN	K	395;396	ENSP00000355837:E395K;ENSP00000401665:E396K	ENSP00000355837:E395K	E	-	1	0	CAPN8	221870420	1.000000	0.71417	0.154000	0.22540	0.020000	0.10135	4.791000	0.62460	2.491000	0.84063	0.557000	0.71058	GAG	CAPN8	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.562	CAPN8-201	KNOWN	basic|appris_principal	protein_coding	CAPN8	HGNC	protein_coding		C	NM_001143962		223803797	-1	no_errors	ENST00000366872	ensembl	human	known	70_37	missense	SNP	0.994	T
CAPRIN2	65981	genome.wustl.edu	37	12	30881672	30881672	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:30881672C>T	ENST00000395805.2	-	8	2239	c.1692G>A	c.(1690-1692)caG>caA	p.Q564Q	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Silent_p.Q564Q|CAPRIN2_ENST00000417045.1_Silent_p.Q564Q|CAPRIN2_ENST00000251071.5_Silent_p.Q564Q|CAPRIN2_ENST00000308433.5_Silent_p.Q231Q	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGGAGAAATCTGTGACTGTG	0.448																																																	0													187.0	175.0	179.0					12																	30881672		2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1692G>A	12.37:g.30881672C>T				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.Q564	ENST00000395805.2	37	c.1692	CCDS55816.1	12																																																																																			CAPRIN2	-	NULL		0.448	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	C	NM_023925		30881672	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	silent	SNP	0.594	T
CASC5	57082	genome.wustl.edu	37	15	40933224	40933224	+	Splice_Site	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:40933224G>C	ENST00000346991.5	+	15	6265	c.5875G>C	c.(5875-5877)Gaa>Caa	p.E1959Q	CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Splice_Site_p.E1933Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1959	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGATTGAAGAGTATGAAAG	0.383																																																	0													112.0	105.0	107.0					15																	40933224		1822	4076	5898	SO:0001630	splice_region_variant	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5876+1G>C	15.37:g.40933224G>C			Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.E1959Q	ENST00000346991.5	37	c.5875	CCDS42023.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.075377|4.075377	0.76415|0.76415	.|.	.|.	ENSG00000137812|ENSG00000137812	ENST00000346991;ENST00000399668|ENST00000532406	T;T|.	0.06218|.	3.33;3.33|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.216295|.	0.39341|.	N|.	0.001398|.	T|T	0.57844|0.57844	0.2081|0.2081	M|M	0.62723|0.62723	1.935|1.935	0.28737|0.28737	N|N	0.902198|0.902198	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.54833|0.54833	-0.8234|-0.8234	10|5	0.59425|.	D|.	0.04|.	.|.	15.2983|15.2983	0.73928|0.73928	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1933;1959|.	Q8NG31-2;Q8NG31|.	.;CASC5_HUMAN|.	Q|N	1959;1933|106	ENSP00000335463:E1959Q;ENSP00000382576:E1933Q|.	ENSP00000335463:E1959Q|.	E|K	+|+	1|3	0|2	CASC5|CASC5	38720516|38720516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.733000|2.733000	0.47360|0.47360	2.449000|2.449000	0.82847|0.82847	0.454000|0.454000	0.30748|0.30748	GAA|AAG	CASC5	-	NULL		0.383	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	G	NM_144508	Missense_Mutation	40933224	+1	no_errors	ENST00000346991	ensembl	human	known	70_37	missense	SNP	1.000	C
CASP8	841	genome.wustl.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:202149751C>T	ENST00000432109.2	+	9	1204	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q398*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												1	Substitution - Nonsense(1)	breast(1)											137.0	122.0	127.0					2																	202149751		2203	4300	6503	SO:0001587	stop_gained	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1015C>T	2.37:g.202149751C>T	ENSP00000412523:p.Gln339*		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q398*	ENST00000432109.2	37	c.1192	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854178	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.68	4.54	0.55810	.	0.380203	0.30556	N	0.009380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.8752	0.46906	0.0:0.075:0.0:0.925	.	.	.	.	X	324;255;339;356;398;324;118	.	ENSP00000264274:Q255X	Q	+	1	0	CASP8	201857996	0.217000	0.23597	1.000000	0.80357	0.645000	0.38454	3.232000	0.51302	1.004000	0.39156	-0.367000	0.07326	CAG	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228		202149751	+1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.935	T
CAV2	858	genome.wustl.edu	37	7	116140326	116140326	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:116140326G>T	ENST00000222693.4	+	2	555	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000393480.2_Missense_Mutation_p.D55Y|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	55					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GGGCTTCGAGGATGTGATCGC	0.582																																																	0													119.0	102.0	108.0					7																	116140326		2203	4300	6503	SO:0001583	missense	858			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.163G>T	7.37:g.116140326G>T	ENSP00000222693:p.Asp55Tyr		A4D0U2|Q9UGM7	Missense_Mutation	SNP	pfam_Caveolin	p.D55Y	ENST00000222693.4	37	c.163	CCDS5766.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.203264	0.95033	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.95853	-3.83;-3.83	4.6	4.6	0.57074	Caveolin, conserved site (1);	0.044027	0.85682	D	0.000000	D	0.98327	0.9445	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99782	1.1028	10	0.87932	D	0	-35.6272	17.7875	0.88542	0.0:0.0:1.0:0.0	.	55	P51636	CAV2_HUMAN	Y	55	ENSP00000222693:D55Y;ENSP00000377120:D55Y	ENSP00000222693:D55Y	D	+	1	0	CAV2	115927562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.633000	0.98432	2.254000	0.74563	0.563000	0.77884	GAT	CAV2	-	pfam_Caveolin		0.582	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	G	NM_001233		116140326	+1	no_errors	ENST00000222693	ensembl	human	known	70_37	missense	SNP	1.000	T
CC2D2A	57545	genome.wustl.edu	37	4	15575827	15575827	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:15575827G>C	ENST00000503292.1	+	30	3829	c.3649G>C	c.(3649-3651)Gag>Cag	p.E1217Q	CC2D2A_ENST00000389652.5_Intron|CC2D2A_ENST00000424120.1_Missense_Mutation_p.E1217Q|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E1217Q	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1217					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTACAGTAAGGAGCGAAATAT	0.413																																																	0													166.0	142.0	149.0					4																	15575827		692	1591	2283	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3649G>C	4.37:g.15575827G>C	ENSP00000421809:p.Glu1217Gln		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.E1217Q	ENST00000503292.1	37	c.3649	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238412	0.39598	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000503292	D;D;D	0.96619	-4.07;-4.07;-4.07	4.91	4.91	0.64330	.	.	.	.	.	D	0.93268	0.7855	L	0.38175	1.15	0.80722	D	1	P	0.35656	0.514	B	0.36186	0.219	D	0.92571	0.6066	9	0.39692	T	0.17	.	14.129	0.65240	0.0:0.1502:0.8498:0.0	.	1217	Q9P2K1	C2D2A_HUMAN	Q	1217	ENSP00000403465:E1217Q;ENSP00000398391:E1217Q;ENSP00000421809:E1217Q	ENSP00000398391:E1217Q	E	+	1	0	CC2D2A	15184925	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	7.584000	0.82572	2.430000	0.82344	0.563000	0.77884	GAG	CC2D2A	-	NULL		0.413	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	G	NM_001080522		15575827	+1	no_errors	ENST00000413206	ensembl	human	known	70_37	missense	SNP	1.000	C
RP11-690P14.4	0	genome.wustl.edu	37	10	97752348	97752348	+	3'UTR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:97752348G>C	ENST00000475252.2	+	0	820				ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_5'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA																							TCAGAGGAAAGAAAGGAAAAA	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	387707																														ENST00000475252.2:c.*301G>C	10.37:g.97752348G>C				RNA	SNP	-	NULL	ENST00000475252.2	37	NULL		10																																																																																			CC2D2B	-	-		0.388	RP11-690P14.4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	CC2D2B	HGNC	protein_coding	OTTHUMT00000468152.1	G			97752348	+1	no_errors	ENST00000475252	ensembl	human	known	70_37	rna	SNP	1.000	C
CCDC120	90060	genome.wustl.edu	37	X	48922114	48922114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:48922114C>T	ENST00000376396.3	+	6	757	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	CCDC120_ENST00000536628.2_Nonsense_Mutation_p.Q168*|CCDC120_ENST00000597275.1_Nonsense_Mutation_p.Q180*|CCDC120_ENST00000422185.2_Nonsense_Mutation_p.Q180*|CCDC120_ENST00000603986.1_Nonsense_Mutation_p.Q215*|CCDC120_ENST00000496529.2_Nonsense_Mutation_p.Q180*	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	180										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCGCTGCCCCAGCCACTGCC	0.662																																																	0													18.0	15.0	16.0					X																	48922114		2183	4282	6465	SO:0001587	stop_gained	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.538C>T	X.37:g.48922114C>T	ENSP00000365577:p.Gln180*		B4DFC1|B4DTU2|F5GZU4	Nonsense_Mutation	SNP	pfam_DUF3338	p.Q180*	ENST00000376396.3	37	c.538	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568345	0.86439	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.37	3.46	0.39613	.	0.168227	0.28952	N	0.013614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-3.8043	8.9525	0.35799	0.2192:0.7807:0.0:0.0	.	.	.	.	X	180;180;168	.	ENSP00000365577:Q180X	Q	+	1	0	CCDC120	48809058	0.959000	0.32827	0.874000	0.34290	0.375000	0.29983	2.407000	0.44565	1.771000	0.52183	0.292000	0.19580	CAG	CCDC120	-	NULL		0.662	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	C	NM_033626		48922114	+1	no_errors	ENST00000422185	ensembl	human	known	70_37	nonsense	SNP	0.807	T
CCDC152	100129792	genome.wustl.edu	37	5	42796957	42796957	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:42796957G>C	ENST00000361970.5	+	7	544	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	CCDC152_ENST00000388827.4_Missense_Mutation_p.E97Q	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152	153										endometrium(1)	1						AAAGCACAAAGAACTAATAGA	0.229																																																	0													63.0	51.0	54.0					5																	42796957		692	1588	2280	SO:0001583	missense	100129792				CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.457G>C	5.37:g.42796957G>C	ENSP00000354888:p.Glu153Gln		B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	NULL	p.E153Q	ENST00000361970.5	37	c.457	CCDS47203.1	5	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106481	0.37145	.	.	ENSG00000198865	ENST00000361970;ENST00000388827	T;T	0.46063	0.88;0.91	5.41	5.41	0.78517	.	0.189641	0.45606	D	0.000348	T	0.42131	0.1189	M	0.61703	1.905	0.36576	D	0.873288	B;B	0.30937	0.188;0.301	B;B	0.31547	0.132;0.132	T	0.50617	-0.8807	10	0.40728	T	0.16	4.0853	13.5758	0.61873	0.0:0.1557:0.8443:0.0	.	97;153	B4E0P7;Q4G0S7	.;CC152_HUMAN	Q	153;97	ENSP00000354888:E153Q;ENSP00000373479:E97Q	ENSP00000354888:E153Q	E	+	1	0	CCDC152	42832714	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.254000	0.32897	2.525000	0.85131	0.655000	0.94253	GAA	CCDC152	-	NULL		0.229	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC152	HGNC	protein_coding	OTTHUMT00000367497.1	G	XM_001717416		42796957	+1	no_errors	ENST00000361970	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC159	126075	genome.wustl.edu	37	19	11464109	11464109	+	Intron	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:11464109C>A	ENST00000588790.1	+	10	1014				DKFZP761J1410_ENST00000251473.5_5'Flank|DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Intron			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159											endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCTGTTCTCTCATCCCTCCCC	0.577																																																	0													15.0	16.0	15.0					19																	11464109		1934	4131	6065	SO:0001627	intron_variant	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.568-18C>A	19.37:g.11464109C>A			B4DEG3|B4DWR8|B4E133|B7ZAM4	RNA	SNP	-	NULL	ENST00000588790.1	37	NULL	CCDS45976.1	19																																																																																			CCDC159	-	-		0.577	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	C	NM_001080503		11464109	+1	no_errors	ENST00000586479	ensembl	human	known	70_37	rna	SNP	0.000	A
CCDC178	374864	genome.wustl.edu	37	18	30926242	30926242	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:30926242C>G	ENST00000383096.3	-	9	773	c.591G>C	c.(589-591)atG>atC	p.M197I	CCDC178_ENST00000406524.2_Missense_Mutation_p.M197I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M197I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M197I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.M197I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M197I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M197I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	197																	TCATGTTAATCATATTCTTTC	0.368																																																	0													118.0	117.0	117.0					18																	30926242		2203	4300	6503	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.591G>C	18.37:g.30926242C>G	ENSP00000372576:p.Met197Ile		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.M197I	ENST00000383096.3	37	c.591	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	1.201	-0.632370	0.03584	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.42900	2.56;2.56;2.56;2.55;2.56;0.96	5.59	-1.42	0.08913	.	.	.	.	.	T	0.27765	0.0683	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.27765	0.031;0.188;0.188;0.188	B;B;B;B	0.24974	0.023;0.057;0.057;0.057	T	0.25257	-1.0137	9	0.52906	T	0.07	0.9812	4.9454	0.13987	0.5694:0.2184:0.0:0.2122	.	197;197;197;197	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	197	ENSP00000385591:M197I;ENSP00000372576:M197I;ENSP00000300227:M197I;ENSP00000385867:M197I;ENSP00000385234:M197I;ENSP00000382130:M197I	ENSP00000300227:M197I	M	-	3	0	C18orf34	29180240	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.325000	0.07976	0.021000	0.15133	0.557000	0.71058	ATG	CCDC178	-	NULL		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	C	NM_198995		30926242	-1	no_errors	ENST00000406524	ensembl	human	known	70_37	missense	SNP	0.000	G
CCDC28B	79140	genome.wustl.edu	37	1	32667643	32667643	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:32667643C>T	ENST00000373602.5	+	2	454	c.107C>T	c.(106-108)tCc>tTc	p.S36F	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Missense_Mutation_p.S36F|CCDC28B_ENST00000483009.1_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	36					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACAGCGGCTCCTTGGCCCTA	0.622																																																	0													37.0	43.0	41.0					1																	32667643		2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.107C>T	1.37:g.32667643C>T	ENSP00000362704:p.Ser36Phe		A8K789|Q8TBV8	Missense_Mutation	SNP	NULL	p.S36F	ENST00000373602.5	37	c.107	CCDS354.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.274307	0.95459	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.50548	0.8;0.74	5.39	5.39	0.77823	.	0.170397	0.50627	D	0.000109	T	0.55657	0.1934	L	0.50333	1.59	0.51482	D	0.99992	D;D	0.61080	0.978;0.989	P;P	0.52267	0.694;0.642	T	0.54516	-0.8282	10	0.46703	T	0.11	-1.3595	18.2843	0.90108	0.0:1.0:0.0:0.0	.	36;36	Q9BUN5;E9PM81	CC28B_HUMAN;.	F	36	ENSP00000362704:S36F;ENSP00000413017:S36F	ENSP00000362704:S36F	S	+	2	0	CCDC28B	32440230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.782000	0.75073	2.704000	0.92352	0.655000	0.94253	TCC	CCDC28B	-	NULL		0.622	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	C	NM_024296		32667643	+1	no_errors	ENST00000373602	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC28B	79140	genome.wustl.edu	37	1	32667666	32667666	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:32667666C>T	ENST00000373602.5	+	2	477	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Silent_p.L44L|CCDC28B_ENST00000483009.1_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	44					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACTTCCTCATCTGCCATCCCC	0.637																																																	0													37.0	40.0	39.0					1																	32667666		2203	4300	6503	SO:0001819	synonymous_variant	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.130C>T	1.37:g.32667666C>T			A8K789|Q8TBV8	Silent	SNP	NULL	p.L44	ENST00000373602.5	37	c.130	CCDS354.2	1																																																																																			CCDC28B	-	NULL		0.637	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	C	NM_024296		32667666	+1	no_errors	ENST00000373602	ensembl	human	known	70_37	silent	SNP	1.000	T
CCDC53	51019	genome.wustl.edu	37	12	102439876	102439876	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:102439876G>A	ENST00000240079.6	-	3	333	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.R58C	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	58						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)		p.R58C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTTGGATACGAAGTGAAAGG	0.294																																																	1	Substitution - Missense(1)	large_intestine(1)											47.0	43.0	44.0					12																	102439876		1796	4062	5858	SO:0001583	missense	51019			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.172C>T	12.37:g.102439876G>A	ENSP00000240079:p.Arg58Cys		B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	pfam_WASH_CCDC53	p.R58C	ENST00000240079.6	37	c.172	CCDS44959.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323109	0.81580	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.87547	2.89	0.80722	D	1	P;D	0.54207	0.836;0.965	B;B	0.43194	0.212;0.411	T	0.76828	-0.2815	9	0.52906	T	0.07	-11.4463	16.3866	0.83507	0.0:0.0:1.0:0.0	.	58;58	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	C	58;58;8	.	ENSP00000240079:R58C	R	-	1	0	CCDC53	100964006	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.063000	0.64332	2.659000	0.90383	0.655000	0.94253	CGT	CCDC53	-	pfam_WASH_CCDC53		0.294	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC53	HGNC	protein_coding	OTTHUMT00000398685.1	G	NM_016053		102439876	-1	no_errors	ENST00000240079	ensembl	human	known	70_37	missense	SNP	1.000	A
CCR9	10803	genome.wustl.edu	37	3	45942323	45942323	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:45942323G>A	ENST00000357632.2	+	3	223	c.43G>A	c.(43-45)Gat>Aat	p.D15N	CCR9_ENST00000355983.2_Missense_Mutation_p.D3N|CCR9_ENST00000395963.2_Missense_Mutation_p.D3N|LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000422395.1_Silent_p.L43L|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	15					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TAACATGGCTGATGACTATGG	0.453																																																	0													112.0	102.0	106.0					3																	45942323		2203	4300	6503	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.43G>A	3.37:g.45942323G>A	ENSP00000350256:p.Asp15Asn		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4	p.D15N	ENST00000357632.2	37	c.43	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966057	0.74131	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.69306	-0.35;-0.39;-0.39	4.42	4.42	0.53409	.	2.649290	0.01717	N	0.028096	T	0.63105	0.2483	N	0.26042	0.785	0.37401	D	0.912856	B	0.23735	0.09	B	0.21360	0.034	T	0.34601	-0.9822	10	0.62326	D	0.03	.	16.4911	0.84201	0.0:0.0:1.0:0.0	.	15	P51686	CCR9_HUMAN	N	15;3;3	ENSP00000350256:D15N;ENSP00000379292:D3N;ENSP00000348260:D3N	ENSP00000348260:D3N	D	+	1	0	CCR9	45917327	0.125000	0.22332	0.284000	0.24805	0.442000	0.32017	1.520000	0.35899	2.392000	0.81423	0.563000	0.77884	GAT	CCR9	-	NULL		0.453	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	HGNC	protein_coding	OTTHUMT00000257323.2	G			45942323	+1	no_errors	ENST00000357632	ensembl	human	known	70_37	missense	SNP	0.805	A
CD163L1	283316	genome.wustl.edu	37	12	7550886	7550886	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:7550886C>A	ENST00000313599.3	-	7	1760	c.1703G>T	c.(1702-1704)aGa>aTa	p.R568I	CD163L1_ENST00000396630.1_Missense_Mutation_p.R568I|CD163L1_ENST00000416109.2_Missense_Mutation_p.R578I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	568	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACATCCTCTCTGTGTACACA	0.408																																																	0													171.0	163.0	166.0					12																	7550886		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1703G>T	12.37:g.7550886C>A	ENSP00000315945:p.Arg568Ile		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R568I	ENST00000313599.3	37	c.1703	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204872	0.58234	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	2.77	-3.58	0.04597	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.528260	0.04959	U	0.461687	T	0.44329	0.1288	L	0.45422	1.42	0.09310	N	1	D;D	0.55172	0.97;0.97	P;P	0.59761	0.863;0.736	T	0.51148	-0.8742	10	0.38643	T	0.18	.	9.2504	0.37551	0.0:0.6567:0.2018:0.1416	.	578;568	E7EVK4;Q9NR16	.;C163B_HUMAN	I	568;578;568	ENSP00000315945:R568I;ENSP00000393474:R578I;ENSP00000379871:R568I	ENSP00000315945:R568I	R	-	2	0	CD163L1	7442153	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	-3.472000	0.00459	-0.396000	0.07703	0.460000	0.39030	AGA	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	C	NM_174941		7550886	-1	no_errors	ENST00000313599	ensembl	human	known	70_37	missense	SNP	0.000	A
CDC42	998	genome.wustl.edu	37	1	22413001	22413001	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:22413001C>T	ENST00000344548.3	+	5	499	c.248C>T	c.(247-249)tCa>tTa	p.S83L	CDC42_ENST00000400259.1_Missense_Mutation_p.S83L|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Missense_Mutation_p.S125L|CDC42_ENST00000315554.8_Missense_Mutation_p.S83L	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	83					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GTCTGTTTTTCAGTGGTCTCT	0.373																																																	0													88.0	90.0	89.0					1																	22413001		2203	4300	6503	SO:0001583	missense	998			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.248C>T	1.37:g.22413001C>T	ENSP00000341072:p.Ser83Leu		P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S125L	ENST00000344548.3	37	c.374	CCDS221.1	1	.	.	.	.	.	.	.	.	.	.	c	33	5.278801	0.95489	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	H	0.99978	5.175	0.80722	D	1	D;P;D;D;D	0.69078	0.997;0.584;0.997;0.997;0.982	D;B;D;D;P	0.75020	0.985;0.364;0.985;0.985;0.867	D	0.96337	0.9248	10	0.87932	D	0	.	18.1071	0.89524	0.0:1.0:0.0:0.0	.	125;128;125;83;83	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	L	83;83;83;125;83	ENSP00000383118:S83L;ENSP00000341072:S83L;ENSP00000314458:S83L;ENSP00000398592:S125L;ENSP00000398327:S83L	ENSP00000314458:S83L	S	+	2	0	CDC42	22285588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.677000	0.91161	0.650000	0.86243	TCA	CDC42	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom		0.373	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC42	HGNC	protein_coding	OTTHUMT00000007787.1	C	NM_001791		22413001	+1	no_errors	ENST00000421089	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC42BPB	9578	genome.wustl.edu	37	14	103470289	103470289	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:103470289G>A	ENST00000361246.2	-	4	711	c.423C>T	c.(421-423)taC>taT	p.Y141Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTGAAAGGCGTAGTGCAGCG	0.572																																																	0													99.0	74.0	83.0					14																	103470289		2203	4300	6503	SO:0001819	synonymous_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.423C>T	14.37:g.103470289G>A				Silent	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.Y141	ENST00000361246.2	37	c.423	CCDS9978.1	14																																																																																			CDC42BPB	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103470289	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	silent	SNP	0.972	A
CDC42BPG	55561	genome.wustl.edu	37	11	64606146	64606146	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64606146C>T	ENST00000342711.5	-	8	1104	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGGGTGTCGTCATCCACATCA	0.622																																																	0													80.0	79.0	79.0					11																	64606146		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1105G>A	11.37:g.64606146C>T	ENSP00000345133:p.Asp369Asn			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D369N	ENST00000342711.5	37	c.1105	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739613	0.89573	.	.	ENSG00000171219	ENST00000342711	T	0.60171	0.21	4.72	4.72	0.59763	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.56097	D	0.000030	T	0.80154	0.4571	M	0.90369	3.11	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	D	0.84845	0.0810	10	0.87932	D	0	.	15.5446	0.76086	0.0:1.0:0.0:0.0	.	369	Q6DT37	MRCKG_HUMAN	N	369	ENSP00000345133:D369N	ENSP00000345133:D369N	D	-	1	0	CDC42BPG	64362722	1.000000	0.71417	0.992000	0.48379	0.736000	0.42039	6.045000	0.71020	2.355000	0.79922	0.561000	0.74099	GAC	CDC42BPG	-	pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C		0.622	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	C	XM_290516		64606146	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	1.000	T
CDH12	1010	genome.wustl.edu	37	5	21751850	21751850	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:21751850G>A	ENST00000382254.1	-	15	3467	c.2381C>T	c.(2380-2382)aCt>aTt	p.T794I	CDH12_ENST00000504376.2_Missense_Mutation_p.T794I|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.T754I|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	794					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTCCCTTAAGTGACTTTATC	0.418										HNSCC(59;0.17)																																							0													75.0	77.0	76.0					5																	21751850		2202	4300	6502	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2381C>T	5.37:g.21751850G>A	ENSP00000371689:p.Thr794Ile		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T794I	ENST00000382254.1	37	c.2381	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522693	0.44866	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55930	0.52;0.52;0.49	5.1	5.1	0.69264	.	0.203730	0.43110	D	0.000606	T	0.39759	0.1090	N	0.22421	0.69	0.39811	D	0.972702	P;P	0.44578	0.838;0.838	B;B	0.35413	0.202;0.202	T	0.52238	-0.8602	10	0.87932	D	0	.	18.5176	0.90941	0.0:0.0:1.0:0.0	.	754;794	B7Z2U6;P55289	.;CAD12_HUMAN	I	794;794;754	ENSP00000423577:T794I;ENSP00000371689:T794I;ENSP00000428786:T754I	ENSP00000371689:T794I	T	-	2	0	CDH12	21787607	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	8.012000	0.88631	2.379000	0.81126	0.467000	0.42956	ACT	CDH12	-	NULL		0.418	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	G	NM_004061		21751850	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH20	28316	genome.wustl.edu	37	18	59195380	59195380	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:59195380G>C	ENST00000262717.4	+	7	1596	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	CDH20_ENST00000538374.1_Missense_Mutation_p.E400Q|CDH20_ENST00000536675.2_Missense_Mutation_p.E400Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGTGCCTGAGGATGTGGC	0.488																																																	0													193.0	187.0	189.0					18																	59195380		2203	4300	6503	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1198G>C	18.37:g.59195380G>C	ENSP00000262717:p.Glu400Gln		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E400Q	ENST00000262717.4	37	c.1198	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958947	0.92726	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.75938	-0.98;-0.98;-0.98	5.73	5.73	0.89815	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93776	0.7079	10	0.87932	D	0	.	19.9638	0.97259	0.0:0.0:1.0:0.0	.	400	Q9HBT6	CAD20_HUMAN	Q	400	ENSP00000444767:E400Q;ENSP00000442226:E400Q;ENSP00000262717:E400Q	ENSP00000262717:E400Q	E	+	1	0	CDH20	57346360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.199000	0.95003	2.721000	0.93114	0.650000	0.86243	GAG	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.488	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	G	NM_031891		59195380	+1	no_errors	ENST00000262717	ensembl	human	known	70_37	missense	SNP	1.000	C
CDH8	1006	genome.wustl.edu	37	16	62055157	62055157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:62055157C>A	ENST00000577390.1	-	2	1105	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.E51*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E51*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.E51*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	51					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CGCTGTTCTTCACCCAGACTG	0.438																																																	0													76.0	77.0	77.0					16																	62055157		2203	4300	6503	SO:0001587	stop_gained	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.151G>T	16.37:g.62055157C>A	ENSP00000462701:p.Glu51*		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E51*	ENST00000577390.1	37	c.151	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	46	12.653160	0.99685	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.278016	0.39146	N	0.001454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000299345:E51X	E	-	1	0	CDH8	60612658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.692000	0.68256	2.941000	0.99782	0.655000	0.94253	GAA	CDH8	-	NULL		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	C	NM_001796		62055157	-1	no_errors	ENST00000577390	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37627371	37627371	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:37627371G>C	ENST00000447079.4	+	2	1319	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T	CDK12_ENST00000430627.2_Missense_Mutation_p.R429T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	429					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTTTGCCTAGAAAAGAGAAC	0.438			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													64.0	65.0	65.0					17																	37627371		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1286G>C	17.37:g.37627371G>C	ENSP00000398880:p.Arg429Thr		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R429T	ENST00000447079.4	37	c.1286	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538122	0.27475	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.40476	1.03;1.03	6.16	-4.37	0.03633	.	0.656413	0.14161	N	0.337377	T	0.23210	0.0561	N	0.08118	0	0.28767	N	0.900587	B;B;B	0.24043	0.058;0.058;0.096	B;B;B	0.26310	0.031;0.031;0.068	T	0.11891	-1.0569	10	0.59425	D	0.04	-1.3688	15.948	0.79809	0.5888:0.0:0.4112:0.0	.	428;429;429	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	429	ENSP00000407720:R429T;ENSP00000398880:R429T	ENSP00000407720:R429T	R	+	2	0	CDK12	34880897	0.945000	0.32115	0.911000	0.35937	0.994000	0.84299	0.120000	0.15647	-0.655000	0.05387	-0.355000	0.07637	AGA	CDK12	-	NULL		0.438	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37627371	+1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	0.514	C
CDK17	5128	genome.wustl.edu	37	12	96688839	96688839	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:96688839C>T	ENST00000261211.3	-	10	1538	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.R259Q|CDK17_ENST00000543119.2_Missense_Mutation_p.R312Q	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTTCAAGTCTCGATGCAATAC	0.338																																																	0													140.0	131.0	134.0					12																	96688839		2203	4300	6503	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.935G>A	12.37:g.96688839C>T	ENSP00000261211:p.Arg312Gln		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R312Q	ENST00000261211.3	37	c.935	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.068136	0.93950	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64803	-0.12;-0.12;-0.12	5.09	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052553	0.85682	N	0.000000	D	0.86723	0.6001	H	0.97852	4.09	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92012	0.5619	10	0.87932	D	0	-7.2266	15.9119	0.79479	0.0:0.8643:0.1357:0.0	.	312;312	A8K1U6;Q00537	.;CDK17_HUMAN	Q	312;312;259	ENSP00000261211:R312Q;ENSP00000444459:R312Q;ENSP00000442926:R259Q	ENSP00000261211:R312Q	R	-	2	0	CDK17	95212970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.701000	0.84566	1.264000	0.44198	0.491000	0.48974	CGA	CDK17	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.338	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	C	NM_002595		96688839	-1	no_errors	ENST00000261211	ensembl	human	known	70_37	missense	SNP	1.000	T
CDKL5	6792	genome.wustl.edu	37	X	18622091	18622091	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18622091G>A	ENST00000379989.3	+	13	1332	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	CDKL5_ENST00000379996.3_Silent_p.L349L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	349					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCCAGAACCTGAGTGTAGGCC	0.468																																																	0													145.0	148.0	147.0					X																	18622091		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1047G>A	X.37:g.18622091G>A			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L349	ENST00000379989.3	37	c.1047	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.468	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	G	NM_003159		18622091	+1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.990	A
CDKL5	6792	genome.wustl.edu	37	X	18671622	18671622	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18671622G>A	ENST00000379989.3	+	22	3336	c.3051G>A	c.(3049-3051)gcG>gcA	p.A1017A	CDKL5_ENST00000379996.3_Silent_p.A1017A|RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1017					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACCAAGCTGCGCTCCTGACAT	0.557																																																	0													71.0	52.0	59.0					X																	18671622		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.3051G>A	X.37:g.18671622G>A			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A1017	ENST00000379989.3	37	c.3051	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.557	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	G	NM_003159		18671622	+1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.000	A
CDON	50937	genome.wustl.edu	37	11	125887079	125887079	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:125887079C>T	ENST00000392693.3	-	6	959	c.832G>A	c.(832-834)Gat>Aat	p.D278N	CDON_ENST00000263577.7_Missense_Mutation_p.D278N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	278	Ig-like C2-type 3.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCAACGCTATCAGTGGCAAGA	0.498																																																	0													101.0	93.0	96.0					11																	125887079		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.832G>A	11.37:g.125887079C>T	ENSP00000376458:p.Asp278Asn		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D278N	ENST00000392693.3	37	c.832	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187733	0.21954	.	.	ENSG00000064309	ENST00000392693;ENST00000263577	T;T	0.67171	-0.25;-0.25	5.06	5.06	0.68205	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110781	0.39407	N	0.001378	T	0.51736	0.1692	N	0.12443	0.215	0.19300	N	0.999974	B;B	0.29136	0.234;0.121	B;B	0.27170	0.077;0.046	T	0.50372	-0.8836	10	0.45353	T	0.12	-7.8067	18.8156	0.92076	0.0:1.0:0.0:0.0	.	278;278	Q4KMG0;Q4KMG0-2	CDON_HUMAN;.	N	278	ENSP00000376458:D278N;ENSP00000263577:D278N	ENSP00000263577:D278N	D	-	1	0	CDON	125392289	0.978000	0.34361	0.023000	0.16930	0.018000	0.09664	4.011000	0.57124	2.496000	0.84212	0.563000	0.77884	GAT	CDON	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.498	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	C	NM_016952		125887079	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	missense	SNP	0.321	T
CDR2	1039	genome.wustl.edu	37	16	22361024	22361024	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:22361024C>T	ENST00000268383.2	-	3	646	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	113						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AAATTTACCTCAGAATCTTTT	0.408																																																	0													157.0	149.0	152.0					16																	22361024		2197	4300	6497	SO:0001819	synonymous_variant	1039			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.339G>A	16.37:g.22361024C>T			A8K8A8|Q13977	Silent	SNP	NULL	p.L113	ENST00000268383.2	37	c.339	CCDS32404.1	16																																																																																			CDR2	-	NULL		0.408	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1	C			22361024	-1	no_errors	ENST00000268383	ensembl	human	known	70_37	silent	SNP	0.995	T
CEL	1056	genome.wustl.edu	37	9	135946536	135946536	+	Silent	SNP	G	G	A	rs373048848		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:135946536G>A	ENST00000372080.4	+	11	1672	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	CEL_ENST00000351304.7_Silent_p.L483L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	549					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCTGGCGCTGCCCACAGTGA	0.672																																																	0								G		0,3886		0,0,1943	23.0	28.0	27.0		1656	2.0	0.9	9		27	11,8241		0,11,4115	no	coding-synonymous	CEL	NM_001807.3		0,11,6058	AA,AG,GG		0.1333,0.0,0.0906		552/757	135946536	11,12127	1943	4126	6069	SO:0001819	synonymous_variant	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1656G>A	9.37:g.135946536G>A			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.L552	ENST00000372080.4	37	c.1656	CCDS43896.1	9																																																																																			CEL	-	NULL		0.672	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	G			135946536	+1	no_errors	ENST00000372080	ensembl	human	known	70_37	silent	SNP	0.972	A
CELSR3	1951	genome.wustl.edu	37	3	48679399	48679399	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:48679399C>T	ENST00000164024.4	-	32	8989	c.8709G>A	c.(8707-8709)gaG>gaA	p.E2903E	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.E2908E	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2903					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGACTCCTCTCCTCCTCCA	0.577																																																	0													25.0	26.0	25.0					3																	48679399		2199	4289	6488	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8709G>A	3.37:g.48679399C>T			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E2908	ENST00000164024.4	37	c.8724	CCDS2775.1	3																																																																																			CELSR3	-	NULL		0.577	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48679399	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	silent	SNP	0.948	T
CELSR3	1951	genome.wustl.edu	37	3	48689423	48689423	+	Missense_Mutation	SNP	C	C	T	rs369174347		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:48689423C>T	ENST00000164024.4	-	12	6090	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1937Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1937	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1937P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCATTCACTCGGTGGCTGGG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14865	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	29.0	32.0	31.0		5810	2.6	1.0	3		31	0,8600		0,0,4300	no	missense	CELSR3	NM_001407.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1937/3313	48689423	1,13005	2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5810G>A	3.37:g.48689423C>T	ENSP00000164024:p.Arg1937Gln		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1937Q	ENST00000164024.4	37	c.5810	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191561	0.21954	2.27E-4	0.0	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.79554	-1.28;-1.28	5.72	2.57	0.30868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.55970	0.1954	N	0.08118	0	0.09310	N	1	B;B	0.32128	0.091;0.357	B;B	0.17433	0.018;0.01	T	0.39742	-0.9599	9	0.17832	T	0.49	.	8.1423	0.31091	0.0:0.5774:0.249:0.1736	.	1937;2007	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Q	1937	ENSP00000164024:R1937Q;ENSP00000445694:R1937Q	ENSP00000164024:R1937Q	R	-	2	0	CELSR3	48664427	0.400000	0.25295	0.997000	0.53966	0.776000	0.43924	0.758000	0.26447	0.790000	0.33803	-0.797000	0.03246	CGA	CELSR3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48689423	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	0.001	T
CENPE	1062	genome.wustl.edu	37	4	104070090	104070090	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:104070090C>G	ENST00000265148.3	-	28	3843	c.3754G>C	c.(3754-3756)Gat>Cat	p.D1252H	CENPE_ENST00000380026.3_Missense_Mutation_p.D1227H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1252					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTAGTTCATCAATAGTTTCT	0.323																																																	0													138.0	140.0	139.0					4																	104070090		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3754G>C	4.37:g.104070090C>G	ENSP00000265148:p.Asp1252His		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1252H	ENST00000265148.3	37	c.3754	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753456	0.49362	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72282	-0.64;-0.64	4.06	3.2	0.36748	.	.	.	.	.	T	0.70596	0.3242	L	0.52126	1.63	0.26586	N	0.973287	D;D	0.59767	0.986;0.985	P;P	0.53062	0.717;0.621	T	0.61342	-0.7082	9	0.66056	D	0.02	.	5.949	0.19235	0.0:0.7585:0.0:0.2415	.	1227;1252	Q02224-3;Q02224	.;CENPE_HUMAN	H	1252;1252;1227	ENSP00000265148:D1252H;ENSP00000369365:D1227H	ENSP00000265148:D1252H	D	-	1	0	CENPE	104289539	0.001000	0.12720	0.983000	0.44433	0.942000	0.58702	-0.173000	0.09854	1.003000	0.39130	0.563000	0.77884	GAT	CENPE	-	superfamily_STAT_TF_coiled-coil		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104070090	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.993	G
CENPI	2491	genome.wustl.edu	37	X	100382213	100382213	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:100382213G>A	ENST00000372927.1	+	9	1141	c.864G>A	c.(862-864)ctG>ctA	p.L288L	CENPI_ENST00000372926.1_Silent_p.L288L|CENPI_ENST00000218507.5_Silent_p.L288L|CENPI_ENST00000423383.1_Silent_p.L288L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	288					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CAGAACCTCTGAAGTTGATGT	0.368																																																	0													65.0	62.0	63.0					X																	100382213		2203	4300	6503	SO:0001819	synonymous_variant	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.864G>A	X.37:g.100382213G>A			Q5JWZ9|Q96ED0	Silent	SNP	pfam_Centromere_CenpI	p.L288	ENST00000372927.1	37	c.864	CCDS14479.1	X																																																																																			CENPI	-	pfam_Centromere_CenpI		0.368	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	G	NM_006733		100382213	+1	no_errors	ENST00000372927	ensembl	human	known	70_37	silent	SNP	0.000	A
CEP170	9859	genome.wustl.edu	37	1	243319566	243319566	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:243319566C>G	ENST00000366542.1	-	14	3919	c.3868G>C	c.(3868-3870)Gac>Cac	p.D1290H	CEP170_ENST00000366543.1_Missense_Mutation_p.D1156H|CEP170_ENST00000366544.1_Missense_Mutation_p.D1192H|CEP170_ENST00000481987.1_Missense_Mutation_p.D16H|CEP170_ENST00000490813.1_Missense_Mutation_p.D16H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1290	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CGGATGTAGTCTTCCTGCTCT	0.428																																																	0													25.0	24.0	24.0					1																	243319566		1811	4049	5860	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3868G>C	1.37:g.243319566C>G	ENSP00000355500:p.Asp1290His		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.D1290H	ENST00000366542.1	37	c.3868	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185700|3.185700	0.57909|0.57909	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936;ENST00000492145|ENST00000336415	T;T;T;T|.	0.51817|.	0.69;0.69;0.79;1.89|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.046808|.	0.85682|.	D|.	0.000000|.	T|T	0.58047|0.58047	0.2095|0.2095	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.971;0.998;0.998;0.998|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|5	0.72032|.	D|.	0.01|.	-12.0544|-12.0544	17.0102|17.0102	0.86404|0.86404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1253;1192;1156;1290|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|N	1290;1192;1156;16;215;16;99;16;16|1253	ENSP00000355500:D1290H;ENSP00000355502:D1192H;ENSP00000355501:D1156H;ENSP00000394002:D99H|.	ENSP00000355500:D1290H|.	D|K	-|-	1|3	0|2	CEP170|CEP170	241386189|241386189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.436000|7.436000	0.80404|0.80404	2.244000|2.244000	0.73946|0.73946	0.555000|0.555000	0.69702|0.69702	GAC|AAG	CEP170	-	NULL		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	C	NM_014812		243319566	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP290	80184	genome.wustl.edu	37	12	88523611	88523611	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:88523611C>T	ENST00000552810.1	-	10	1055	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CEP290_ENST00000309041.7_Missense_Mutation_p.E238K|CEP290_ENST00000397838.3_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	238					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTCTCATTTCTTGATTCTGA	0.254																																																	0													37.0	31.0	33.0					12																	88523611		1727	3930	5657	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.712G>A	12.37:g.88523611C>T	ENSP00000448012:p.Glu238Lys		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.E238K	ENST00000552810.1	37	c.712	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908726	0.72868	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.57107	0.42;0.42	4.83	4.83	0.62350	.	0.125317	0.56097	D	0.000035	T	0.56396	0.1982	L	0.56769	1.78	0.80722	D	1	P	0.49635	0.926	P	0.46479	0.518	T	0.56129	-0.8030	10	0.30854	T	0.27	.	18.2799	0.90096	0.0:1.0:0.0:0.0	.	238	O15078	CE290_HUMAN	K	238;238;238;140	ENSP00000448012:E238K;ENSP00000308021:E238K	ENSP00000308021:E238K	E	-	1	0	CEP290	87047742	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.362000	0.59467	2.393000	0.81446	0.555000	0.69702	GAA	CEP290	-	NULL		0.254	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	C	NM_025114		88523611	-1	no_errors	ENST00000309041	ensembl	human	known	70_37	missense	SNP	1.000	T
CEP95	90799	genome.wustl.edu	37	17	62517642	62517642	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:62517642G>C	ENST00000556440.2	+	7	1222	c.712G>C	c.(712-714)Gac>Cac	p.D238H	CEP95_ENST00000553412.1_Missense_Mutation_p.D74H	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	238						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CTTTGTTGAAGACAGTGAGTT	0.383																																																	0													100.0	91.0	93.0					17																	62517642		1897	4120	6017	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.712G>C	17.37:g.62517642G>C	ENSP00000450461:p.Asp238His		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.D238H	ENST00000556440.2	37	c.712	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009905	0.54361	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.33216	1.42;1.46	4.3	4.3	0.51218	.	1.016190	0.07838	N	0.962582	T	0.33990	0.0882	L	0.44542	1.39	0.29700	N	0.840209	P	0.40107	0.703	B	0.42593	0.392	T	0.17776	-1.0358	10	0.48119	T	0.1	-5.634	12.5801	0.56386	0.0:0.0:1.0:0.0	.	238	Q96GE4	CEP95_HUMAN	H	173;238;74	ENSP00000450461:D238H;ENSP00000450906:D74H	ENSP00000438458:D173H	D	+	1	0	CEP95	59948104	0.977000	0.34250	0.699000	0.30290	0.005000	0.04900	1.437000	0.34991	2.673000	0.90976	0.650000	0.86243	GAC	CEP95	-	NULL		0.383	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62517642	+1	no_errors	ENST00000556440	ensembl	human	known	70_37	missense	SNP	0.780	C
CEP97	79598	genome.wustl.edu	37	3	101475947	101475947	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:101475947G>C	ENST00000341893.3	+	8	1686	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CEP97_ENST00000494050.1_Missense_Mutation_p.E312Q|CEP97_ENST00000327230.4_Missense_Mutation_p.E312Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	312	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAAAATGAAGAGTTGTCTCC	0.393																																																	0													128.0	124.0	125.0					3																	101475947		2203	4300	6503	SO:0001583	missense	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.934G>C	3.37:g.101475947G>C	ENSP00000342510:p.Glu312Gln		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E312Q	ENST00000341893.3	37	c.934	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463758	0.63513	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.53423	0.65;0.62;0.68	4.89	4.89	0.63831	.	0.116551	0.56097	D	0.000027	T	0.62245	0.2412	L	0.59436	1.845	0.28864	N	0.895338	D;D;D	0.71674	0.99;0.998;0.991	P;P;P	0.62813	0.743;0.907;0.764	T	0.58239	-0.7671	10	0.25106	T	0.35	-14.6129	18.0427	0.89323	0.0:0.0:1.0:0.0	.	312;312;312	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	Q	312	ENSP00000342510:E312Q;ENSP00000325881:E312Q;ENSP00000418185:E312Q	ENSP00000325881:E312Q	E	+	1	0	CEP97	102958637	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.343000	0.65976	2.234000	0.73211	0.313000	0.20887	GAG	CEP97	-	NULL		0.393	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	G	NM_024548		101475947	+1	no_errors	ENST00000327230	ensembl	human	known	70_37	missense	SNP	0.994	C
CFH	3075	genome.wustl.edu	37	1	196695683	196695683	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:196695683G>A	ENST00000367429.4	+	13	2197	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	653	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGACACAGTGAAGTGGTGGA	0.373																																																	0													105.0	110.0	108.0					1																	196695683		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1957G>A	1.37:g.196695683G>A	ENSP00000356399:p.Glu653Lys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E653K	ENST00000367429.4	37	c.1957	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408597	0.83340	.	.	ENSG00000000971	ENST00000367429	T	0.67345	-0.26	5.32	5.32	0.75619	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.76219	0.3957	M	0.79258	2.445	0.31977	N	0.606339	D	0.56521	0.976	P	0.59357	0.856	T	0.76342	-0.2994	9	0.22109	T	0.4	.	10.1382	0.42719	0.0918:0.0:0.9082:0.0	.	653	P08603	CFAH_HUMAN	K	653	ENSP00000356399:E653K	ENSP00000356399:E653K	E	+	1	0	CFH	194962306	0.016000	0.18221	0.019000	0.16419	0.584000	0.36387	0.705000	0.25675	2.495000	0.84180	0.460000	0.39030	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.373	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196695683	+1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.045	A
CFP	5199	genome.wustl.edu	37	X	47489267	47489267	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:47489267C>G	ENST00000396992.3	-	0	97				CFP_ENST00000377005.2_5'UTR|CFP_ENST00000480317.1_5'UTR|CFP_ENST00000247153.3_5'UTR	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCCTGCACCTCTACCAGAGAG	0.607																																																	0													18.0	16.0	17.0					X																	47489267		2040	3887	5927	SO:0001623	5_prime_UTR_variant	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.-24G>C	X.37:g.47489267C>G			O15134|O15135|O15136|O75826	RNA	SNP	-	NULL	ENST00000396992.3	37	NULL	CCDS14282.1	X																																																																																			CFP	-	-		0.607	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	C	NM_002621		47489267	-1	no_errors	ENST00000480317	ensembl	human	known	70_37	rna	SNP	0.000	G
CHD3	1107	genome.wustl.edu	37	17	7803244	7803244	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:7803244C>G	ENST00000330494.7	+	16	2725	c.2575C>G	c.(2575-2577)Ctg>Gtg	p.L859V	CHD3_ENST00000380358.4_Missense_Mutation_p.L918V|CHD3_ENST00000358181.4_Missense_Mutation_p.L859V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	859	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCATGTTCTCCTGACATCGTA	0.517																																																	0													200.0	167.0	178.0					17																	7803244		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2575C>G	17.37:g.7803244C>G	ENSP00000332628:p.Leu859Val		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L859V	ENST00000330494.7	37	c.2575	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222547	0.58668	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.92965	-3.14;-3.14;-3.14	5.4	5.4	0.78164	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.36234	N	0.002704	D	0.94182	0.8133	L	0.37750	1.13	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.99;0.994;0.994	D	0.94596	0.7792	10	0.87932	D	0	-14.8506	19.3555	0.94410	0.0:1.0:0.0:0.0	.	859;859;918	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	V	918;859;859	ENSP00000369716:L918V;ENSP00000350907:L859V;ENSP00000332628:L859V	ENSP00000332628:L859V	L	+	1	2	CHD3	7743969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.706000	0.61845	2.813000	0.96785	0.561000	0.74099	CTG	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7803244	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	G
CHD7	55636	genome.wustl.edu	37	8	61774767	61774767	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:61774767G>C	ENST00000423902.2	+	36	8322	c.7843G>C	c.(7843-7845)Gtg>Ctg	p.V2615L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2615					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAATGCAGATGTGCTGTTTTC	0.338																																																	0													47.0	42.0	43.0					8																	61774767		1831	4079	5910	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7843G>C	8.37:g.61774767G>C	ENSP00000392028:p.Val2615Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V2615L	ENST00000423902.2	37	c.7843	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	7.605	0.673668	0.14841	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.80393	-1.37	5.56	4.69	0.59074	.	0.086624	0.46145	D	0.000309	T	0.50531	0.1621	N	0.01352	-0.895	0.33734	D	0.618531	B	0.02656	0.0	B	0.01281	0.0	T	0.54227	-0.8325	10	0.07030	T	0.85	-13.3467	10.6007	0.45365	0.1466:0.0:0.8534:0.0	.	2615	Q9P2D1	CHD7_HUMAN	L	2615	ENSP00000392028:V2615L	ENSP00000307304:V2615L	V	+	1	0	CHD7	61937321	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.400000	0.20932	1.370000	0.46153	0.650000	0.86243	GTG	CHD7	-	NULL		0.338	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61774767	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C
CHI3L1	1116	genome.wustl.edu	37	1	203150299	203150299	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:203150299G>C	ENST00000255409.3	-	7	827	c.702C>G	c.(700-702)ttC>ttG	p.F234L		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	234					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAGTGTTGCTGAATCTGTCAG	0.572																																																	0													133.0	115.0	121.0					1																	203150299		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.702C>G	1.37:g.203150299G>C	ENSP00000255409:p.Phe234Leu		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.F234L	ENST00000255409.3	37	c.702	CCDS1435.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.45|13.45	2.242047|2.242047	0.39598|0.39598	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.05199|.	3.48|.	4.97|4.97	4.97|4.97	0.65823|0.65823	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.545498|.	0.18143|.	N|.	0.150321|.	T|T	0.43700|0.43700	0.1259|0.1259	N|N	0.13043|0.13043	0.29|0.29	0.35261|0.35261	D|D	0.77961|0.77961	P;P|.	0.52316|.	0.952;0.659|.	B;B|.	0.43916|.	0.436;0.209|.	T|T	0.51834|0.51834	-0.8655|-0.8655	10|5	0.38643|.	T|.	0.18|.	-16.1691|-16.1691	16.1019|16.1019	0.81178|0.81178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	31;234|.	B3KTE6;P36222|.	.;CH3L1_HUMAN|.	L|E	234|64	ENSP00000255409:F234L|.	ENSP00000255409:F234L|.	F|Q	-|-	3|1	2|0	CHI3L1|CHI3L1	201416922|201416922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.490000|0.490000	0.33462|0.33462	4.598000|4.598000	0.61069|0.61069	2.471000|2.471000	0.83476|0.83476	0.655000|0.655000	0.94253|0.94253	TTC|CAG	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.572	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	G	NM_001276		203150299	-1	no_errors	ENST00000255409	ensembl	human	known	70_37	missense	SNP	1.000	C
CHKB	1120	genome.wustl.edu	37	22	51020713	51020713	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:51020713C>T	ENST00000406938.2	-	2	515	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_5'UTR|CHKB-CPT1B_ENST00000452668.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	100					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AGAAGCACCTCCCGGGGCTCC	0.682																																																	0													16.0	16.0	16.0					22																	51020713		2186	4288	6474	SO:0001583	missense	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.298G>A	22.37:g.51020713C>T	ENSP00000384400:p.Glu100Lys		A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E100K	ENST00000406938.2	37	c.298	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	C	8.603	0.887372	0.17540	.	.	ENSG00000100288	ENST00000406938	T	0.51817	0.69	5.12	1.53	0.23141	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.256416	0.35805	N	0.002975	T	0.13543	0.0328	N	0.00793	-1.18	0.39734	D	0.971643	B	0.17667	0.023	B	0.18561	0.022	T	0.34502	-0.9826	10	0.02654	T	1	0.2971	8.9919	0.36028	0.1549:0.4018:0.4433:0.0	.	100	Q9Y259	CHKB_HUMAN	K	100	ENSP00000384400:E100K	ENSP00000384400:E100K	E	-	1	0	CHKB	49367579	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	2.028000	0.41088	0.503000	0.28060	-0.321000	0.08615	GAG	CHKB	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.682	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	C	NM_005198		51020713	-1	no_errors	ENST00000406938	ensembl	human	known	70_37	missense	SNP	1.000	T
CHMP5	51510	genome.wustl.edu	37	9	33266018	33266018	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:33266018G>C	ENST00000223500.8	+	2	217	c.80G>C	c.(79-81)aGa>aCa	p.R27T	BAG1_ENST00000379704.2_5'Flank|BAG1_ENST00000472232.3_5'Flank|CHMP5_ENST00000419016.2_Missense_Mutation_p.R27T	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	27					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GTGGACAGTAGAGCAGAATCC	0.433																																																	0													81.0	76.0	77.0					9																	33266018		2203	4300	6503	SO:0001583	missense	51510			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.80G>C	9.37:g.33266018G>C	ENSP00000223500:p.Arg27Thr		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	pfam_Snf7	p.R27T	ENST00000223500.8	37	c.80	CCDS6537.1	9	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882657	0.72410	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	T;T	0.73469	-0.75;-0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87374	0.2352	10	0.87932	D	0	-4.6058	17.0103	0.86404	0.0:0.0:1.0:0.0	.	27;27	B4DIR6;Q9NZZ3	.;CHMP5_HUMAN	T	27	ENSP00000223500:R27T;ENSP00000442725:R27T	ENSP00000223500:R27T	R	+	2	0	CHMP5	33256018	1.000000	0.71417	0.989000	0.46669	0.382000	0.30200	9.349000	0.97066	2.610000	0.88304	0.462000	0.41574	AGA	CHMP5	-	pfam_Snf7		0.433	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP5	HGNC	protein_coding	OTTHUMT00000052040.3	G	NM_016410		33266018	+1	no_errors	ENST00000223500	ensembl	human	known	70_37	missense	SNP	0.998	C
CHRM2	1129	genome.wustl.edu	37	7	136700395	136700395	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:136700395G>A	ENST00000445907.2	+	3	1311	c.783G>A	c.(781-783)caG>caA	p.Q261Q	CHRM2_ENST00000397608.3_Silent_p.Q261Q|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.Q261Q|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Silent_p.Q261Q|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.Q261Q|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.Q261Q	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	261					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACAAAATCCAGAATGGCAAAG	0.507																																																	0													55.0	60.0	58.0					7																	136700395		2202	4300	6502	SO:0001819	synonymous_variant	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.783G>A	7.37:g.136700395G>A			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.Q261	ENST00000445907.2	37	c.783	CCDS5843.1	7																																																																																			CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700395	+1	no_errors	ENST00000320658	ensembl	human	known	70_37	silent	SNP	1.000	A
CHTF8	54921	genome.wustl.edu	37	16	69154218	69154218	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:69154218C>T	ENST00000448552.2	-	0	597				CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000574807.1_Silent_p.L38L|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000398235.2_3'UTR|CHTF8_ENST00000306585.6_Silent_p.L38L|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000518041.1_Intron	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCCTGTGTTCAGAACAGGAC	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	54921				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*110G>A	16.37:g.69154218C>T			A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Silent	SNP	NULL	p.L38	ENST00000448552.2	37	c.114	CCDS42185.1	16																																																																																			CHTF8	-	NULL		0.597	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF8	HGNC	protein_coding	OTTHUMT00000376352.2	C	NM_017804		69154218	-1	no_errors	ENST00000306585	ensembl	human	known	70_37	silent	SNP	0.793	T
CKAP2L	150468	genome.wustl.edu	37	2	113514048	113514048	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:113514048G>C	ENST00000302450.6	-	4	978	c.900C>G	c.(898-900)atC>atG	p.I300M	CKAP2L_ENST00000541405.1_Missense_Mutation_p.I135M|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	300						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTATATCTTTGATGTTCTTGA	0.403																																																	0													98.0	101.0	100.0					2																	113514048		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.900C>G	2.37:g.113514048G>C	ENSP00000305204:p.Ile300Met		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.I300M	ENST00000302450.6	37	c.900	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	G	4.534	0.099220	0.08681	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.13196	2.61;3.26	2.84	-1.46	0.08800	.	0.968737	0.08533	N	0.931696	T	0.12603	0.0306	L	0.51422	1.61	0.09310	N	1	P	0.39157	0.662	B	0.40009	0.316	T	0.25984	-1.0116	10	0.48119	T	0.1	.	4.0475	0.09779	0.0:0.1671:0.4645:0.3684	.	300	Q8IYA6	CKP2L_HUMAN	M	135;300	ENSP00000438763:I135M;ENSP00000305204:I300M	ENSP00000305204:I300M	I	-	3	3	CKAP2L	113230519	0.075000	0.21258	0.000000	0.03702	0.007000	0.05969	-0.793000	0.04589	-0.261000	0.09405	-0.535000	0.04281	ATC	CKAP2L	-	NULL		0.403	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	G	NM_152515		113514048	-1	no_errors	ENST00000302450	ensembl	human	known	70_37	missense	SNP	0.000	C
CKAP2L	150468	genome.wustl.edu	37	2	113514124	113514124	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:113514124G>A	ENST00000302450.6	-	4	902	c.824C>T	c.(823-825)tCa>tTa	p.S275L	CKAP2L_ENST00000541405.1_Missense_Mutation_p.S110L|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	275						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AACCGTCCTTGAGGGTTTTAC	0.398																																																	0													111.0	113.0	112.0					2																	113514124		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.824C>T	2.37:g.113514124G>A	ENSP00000305204:p.Ser275Leu		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.S275L	ENST00000302450.6	37	c.824	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578896	0.13686	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.15139	2.45;3.1	5.35	-1.0	0.10196	.	1.741800	0.02687	N	0.110246	T	0.13415	0.0325	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21518	-1.0243	10	0.31617	T	0.26	5.8616	0.8848	0.01242	0.2314:0.1293:0.3736:0.2657	.	275	Q8IYA6	CKP2L_HUMAN	L	110;275	ENSP00000438763:S110L;ENSP00000305204:S275L	ENSP00000305204:S275L	S	-	2	0	CKAP2L	113230595	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.428000	0.06991	-0.291000	0.09012	0.585000	0.79938	TCA	CKAP2L	-	NULL		0.398	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	G	NM_152515		113514124	-1	no_errors	ENST00000302450	ensembl	human	known	70_37	missense	SNP	0.000	A
CLASP2	23122	genome.wustl.edu	37	3	33614827	33614827	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:33614827C>G	ENST00000468888.2	-	26	2547	c.2501G>C	c.(2500-2502)aGa>aCa	p.R834T	CLASP2_ENST00000539981.1_Missense_Mutation_p.R603T|CLASP2_ENST00000480013.1_Missense_Mutation_p.R613T|CLASP2_ENST00000359576.5_Missense_Mutation_p.R825T|CLASP2_ENST00000399362.4_Missense_Mutation_p.R833T|CLASP2_ENST00000307312.7_Missense_Mutation_p.R314T|CLASP2_ENST00000461133.3_Missense_Mutation_p.R592T			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	613					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGATTCATATCTTCTTCGAGC	0.368																																																	0													156.0	139.0	145.0					3																	33614827		1899	4098	5997	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2501G>C	3.37:g.33614827C>G	ENSP00000419974:p.Arg834Thr		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R833T	ENST00000468888.2	37	c.2498		3	.	.	.	.	.	.	.	.	.	.	C	35	5.443438	0.96187	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T	0.19806	2.13;2.12;2.12	5.74	5.74	0.90152	Armadillo-type fold (1);	0.214602	0.47852	D	0.000211	T	0.44540	0.1298	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.76494	0.997;0.996;0.999	D;D;D	0.77557	0.989;0.99;0.978	T	0.02358	-1.1171	10	0.25751	T	0.34	-20.8047	20.3075	0.98634	0.0:1.0:0.0:0.0	.	613;825;833	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	T	834;833;825;314;603;613;592;124	ENSP00000419974:R834T;ENSP00000382297:R833T;ENSP00000352581:R825T	ENSP00000304743:R314T	R	-	2	0	CLASP2	33589831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.880000	0.98712	0.650000	0.86243	AGA	CLASP2	-	superfamily_ARM-type_fold		0.368	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	C	NM_001207044		33614827	-1	no_errors	ENST00000399362	ensembl	human	known	70_37	missense	SNP	1.000	G
CLEC12A	160364	genome.wustl.edu	37	12	10124202	10124202	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:10124202G>A	ENST00000304361.4	+	1	189	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CLEC12A_ENST00000355690.4_Missense_Mutation_p.E13K|CLEC12A_ENST00000350667.4_Missense_Mutation_p.E3K|CLEC12A_ENST00000434319.2_Missense_Mutation_p.E3K	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATCAATGTCTGAAGAAGTTAC	0.323																																					Melanoma(197;1487 2125 16611 22221 34855)												0													97.0	102.0	100.0					12																	10124202		2203	4298	6501	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.7G>A	12.37:g.10124202G>A	ENSP00000302804:p.Glu3Lys		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E13K	ENST00000304361.4	37	c.37	CCDS8608.1	12	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612382	0.66672	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.08458	4.46;3.09;4.48;3.93;3.81	4.12	4.12	0.48240	.	.	.	.	.	T	0.24967	0.0606	M	0.68593	2.085	0.34272	D	0.68117	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73380	0.98;0.976;0.971	T	0.16453	-1.0402	9	0.72032	D	0.01	.	12.1542	0.54066	0.0:0.0:1.0:0.0	.	3;3;13	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	K	13;3;3;3;3	ENSP00000347916:E13K;ENSP00000379764:E3K;ENSP00000302804:E3K;ENSP00000405244:E3K;ENSP00000345448:E3K	ENSP00000302804:E3K	E	+	1	0	CLEC12A	10015469	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.018000	0.49625	2.579000	0.87056	0.655000	0.94253	GAA	CLEC12A	-	NULL		0.323	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC12A	HGNC	protein_coding	OTTHUMT00000399545.1	G	NM_138337		10124202	+1	no_errors	ENST00000355690	ensembl	human	known	70_37	missense	SNP	1.000	A
CLEC4F	165530	genome.wustl.edu	37	2	71043160	71043160	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:71043160G>A	ENST00000272367.2	-	4	1429	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	CLEC4F_ENST00000426626.1_Silent_p.V451V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	451					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTGAAGTAATGACCACATGGA	0.522																																					Colon(107;10 2157 6841 26035)												0													138.0	129.0	132.0					2																	71043160		2203	4300	6503	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1353C>T	2.37:g.71043160G>A			A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V451	ENST00000272367.2	37	c.1353	CCDS1910.1	2																																																																																			CLEC4F	-	NULL		0.522	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	G	NM_173535		71043160	-1	no_errors	ENST00000272367	ensembl	human	known	70_37	silent	SNP	0.000	A
CLIC5	53405	genome.wustl.edu	37	6	45882184	45882184	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:45882184C>T	ENST00000185206.6	-	5	1036				CLIC5_ENST00000544153.1_Intron|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000339561.6_Intron	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5						auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ATTCAAACTTCTTGCCAGTGG	0.473																																																	0													44.0	45.0	45.0					6																	45882184		2203	4300	6503	SO:0001627	intron_variant	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.884-38G>A	6.37:g.45882184C>T			B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	RNA	SNP	-	NULL	ENST00000185206.6	37	NULL	CCDS47438.1	6																																																																																			CLIC5	-	-		0.473	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	C			45882184	-1	no_errors	ENST00000484572	ensembl	human	known	70_37	rna	SNP	0.000	T
CLIC5	53405	genome.wustl.edu	37	6	46047623	46047623	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:46047623G>A	ENST00000185206.6	-	1	509	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	119					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTGCTGCGCAGAGTTGCTGGT	0.517																																																	0													62.0	58.0	59.0					6																	46047623		692	1591	2283	SO:0001819	synonymous_variant	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.357C>T	6.37:g.46047623G>A			B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.L119	ENST00000185206.6	37	c.357	CCDS47438.1	6																																																																																			CLIC5	-	NULL		0.517	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	G			46047623	-1	no_errors	ENST00000185206	ensembl	human	known	70_37	silent	SNP	0.000	A
CMYA5	202333	genome.wustl.edu	37	5	79030491	79030491	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:79030491C>T	ENST00000446378.2	+	2	5934	c.5903C>T	c.(5902-5904)tCc>tTc	p.S1968F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1968					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTGATACTTCCAGTGGTAAT	0.413																																																	0													75.0	73.0	74.0					5																	79030491		1888	4104	5992	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5903C>T	5.37:g.79030491C>T	ENSP00000394770:p.Ser1968Phe		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1968F	ENST00000446378.2	37	c.5903	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714693	0.30413	.	.	ENSG00000164309	ENST00000446378	T	0.43294	0.95	5.26	4.4	0.53042	.	1.024180	0.07844	N	0.963438	T	0.30103	0.0754	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.25433	-1.0132	10	0.72032	D	0.01	.	10.0014	0.41931	0.0:0.9059:0.0:0.0941	.	1968	Q8N3K9	CMYA5_HUMAN	F	1968	ENSP00000394770:S1968F	ENSP00000394770:S1968F	S	+	2	0	CMYA5	79066247	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	1.362000	0.34148	1.212000	0.43366	0.555000	0.69702	TCC	CMYA5	-	NULL		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79030491	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.003	T
CMYA5	202333	genome.wustl.edu	37	5	79032785	79032785	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:79032785G>A	ENST00000446378.2	+	2	8228	c.8197G>A	c.(8197-8199)Gaa>Aaa	p.E2733K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2733					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGTCATGATGAAATAGAGAA	0.393																																																	0													50.0	49.0	49.0					5																	79032785		1834	4074	5908	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8197G>A	5.37:g.79032785G>A	ENSP00000394770:p.Glu2733Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E2733K	ENST00000446378.2	37	c.8197	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444841	0.43429	.	.	ENSG00000164309	ENST00000446378	T	0.17691	2.26	4.09	3.2	0.36748	.	0.112589	0.40144	N	0.001170	T	0.17323	0.0416	L	0.46157	1.445	0.09310	N	1	P	0.37015	0.578	B	0.40199	0.322	T	0.08973	-1.0696	10	0.62326	D	0.03	.	9.1679	0.37063	0.1074:0.0:0.8926:0.0	.	2733	Q8N3K9	CMYA5_HUMAN	K	2733	ENSP00000394770:E2733K	ENSP00000394770:E2733K	E	+	1	0	CMYA5	79068541	0.017000	0.18338	0.019000	0.16419	0.199000	0.23934	0.938000	0.28965	0.861000	0.35504	0.478000	0.44815	GAA	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79032785	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.150	A
CNGA4	1262	genome.wustl.edu	37	11	6261369	6261369	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:6261369C>A	ENST00000379936.2	+	4	460	c.345C>A	c.(343-345)ttC>ttA	p.F115L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	115					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGAGTTTCTTCTTGGACC	0.627																																																	0													138.0	131.0	134.0					11																	6261369		2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.345C>A	11.37:g.6261369C>A	ENSP00000369268:p.Phe115Leu			Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F115L	ENST00000379936.2	37	c.345	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860182	0.71834	.	.	ENSG00000132259	ENST00000379936	D	0.98419	-4.92	5.15	3.28	0.37604	Ion transport (1);	0.045838	0.85682	D	0.000000	D	0.98830	0.9605	M	0.92459	3.31	0.42028	D	0.99101	D;D	0.65815	0.995;0.984	P;P	0.61722	0.893;0.749	D	0.98934	1.0788	10	0.62326	D	0.03	.	10.4427	0.44474	0.0:0.8393:0.0:0.1607	.	115;75	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	L	115	ENSP00000369268:F115L	ENSP00000369268:F115L	F	+	3	2	CNGA4	6217945	0.100000	0.21855	0.626000	0.29213	0.848000	0.48234	0.636000	0.24644	0.672000	0.31204	0.655000	0.94253	TTC	CNGA4	-	pfam_Ion_trans_dom		0.627	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	C	NM_001037329		6261369	+1	no_errors	ENST00000379936	ensembl	human	known	70_37	missense	SNP	0.975	A
CNGB1	1258	genome.wustl.edu	37	16	57949228	57949228	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:57949228G>C	ENST00000251102.8	-	23	2289	c.2229C>G	c.(2227-2229)ctC>ctG	p.L743L	CNGB1_ENST00000564448.1_Silent_p.L737L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	743					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAGGAGGCTGAGCAGGTCCA	0.587																																					Colon(156;1293 1853 16336 28962 38659)												0													45.0	47.0	46.0					16																	57949228		1967	4138	6105	SO:0001819	synonymous_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2229C>G	16.37:g.57949228G>C			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L743	ENST00000251102.8	37	c.2229	CCDS42169.1	16																																																																																			CNGB1	-	NULL		0.587	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	G	NM_001297		57949228	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	silent	SNP	0.992	C
CNTRL	11064	genome.wustl.edu	37	9	123858773	123858773	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:123858773C>T	ENST00000373855.1	+	6	813	c.553C>T	c.(553-555)Cca>Tca	p.P185S	CNTRL_ENST00000373865.2_Missense_Mutation_p.P185S|CNTRL_ENST00000238341.5_Missense_Mutation_p.P185S			Q7Z7A1	CNTRL_HUMAN	centriolin	185					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGAGCATATTCCAGTATGGTT	0.323																																																	0													98.0	104.0	102.0					9																	123858773		2203	4299	6502	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.553C>T	9.37:g.123858773C>T	ENSP00000362962:p.Pro185Ser		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.P185S	ENST00000373855.1	37	c.553	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777667	0.90195	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.52983	0.64;0.64	5.87	5.87	0.94306	.	.	.	.	.	T	0.72510	0.3469	M	0.80183	2.485	0.51233	D	0.999911	D	0.89917	1.0	D	0.91635	0.999	T	0.74813	-0.3537	9	0.87932	D	0	.	19.2028	0.93717	0.0:1.0:0.0:0.0	.	185	Q7Z7A1	CNTRL_HUMAN	S	185	ENSP00000362962:P185S;ENSP00000238341:P185S	ENSP00000238341:P185S	P	+	1	0	CNTRL	122898594	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	6.198000	0.72106	2.785000	0.95823	0.591000	0.81541	CCA	CNTRL	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.323	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	C	NM_007018		123858773	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	T
COG4	25839	genome.wustl.edu	37	16	70542705	70542705	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:70542705C>T	ENST00000393612.4	-	8	1015	c.1013G>A	c.(1012-1014)tGa>tAa	p.*338*	COG4_ENST00000323786.5_Intron			Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	0					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTTCTCTGCTCAAAAGAAGGA	0.348																																																	0																																										SO:0001819	synonymous_variant	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000393612.4:c.1013G>A	16.37:g.70542705C>T			B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.*338	ENST00000393612.4	37	c.1013		16																																																																																			COG4	-	NULL		0.348	COG4-201	KNOWN	basic	protein_coding	COG4	HGNC	protein_coding		C			70542705	-1	no_errors	ENST00000393612	ensembl	human	known	70_37	silent	SNP	0.000	T
COL21A1	81578	genome.wustl.edu	37	6	55922389	55922389	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:55922389C>G	ENST00000244728.5	-	0	3337				COL21A1_ENST00000370808.2_3'UTR|COL21A1_ENST00000535941.1_3'UTR|COL21A1_ENST00000370819.1_3'UTR|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTTGGTTATCTTCCTGAGAT	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.*66G>C	6.37:g.55922389C>G			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	RNA	SNP	-	NULL	ENST00000244728.5	37	NULL	CCDS55025.1	6																																																																																			COL21A1	-	-		0.353	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	C			55922389	-1	no_errors	ENST00000467045	ensembl	human	known	70_37	rna	SNP	0.990	G
COL4A2	1284	genome.wustl.edu	37	13	110960452	110960452	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:110960452C>T	ENST00000360467.5	+	3	387	c.81C>T	c.(79-81)ctC>ctT	p.L27L	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	27					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGGTTCCTCGCCCAGAGCG	0.647																																																	0													68.0	77.0	74.0					13																	110960452		2058	4183	6241	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.81C>T	13.37:g.110960452C>T			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L27	ENST00000360467.5	37	c.81	CCDS41907.1	13																																																																																			COL4A2	-	NULL		0.647	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		110960452	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.152	T
COL6A1	1291	genome.wustl.edu	37	21	47421214	47421214	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:47421214G>C	ENST00000361866.3	+	30	1984	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	624	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGACAGCTCAGAGAGCATTGG	0.647																																																	0													119.0	116.0	117.0					21																	47421214		2203	4300	6503	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1870G>C	21.37:g.47421214G>C	ENSP00000355180:p.Glu624Gln		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E624Q	ENST00000361866.3	37	c.1870	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784370	0.90282	.	.	ENSG00000142156	ENST00000361866	D	0.83992	-1.79	5.2	5.2	0.72013	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90369	0.4379	10	0.46703	T	0.11	-0.1674	18.7225	0.91700	0.0:0.0:1.0:0.0	.	624	P12109	CO6A1_HUMAN	Q	624	ENSP00000355180:E624Q	ENSP00000355180:E624Q	E	+	1	0	COL6A1	46245642	1.000000	0.71417	0.943000	0.38184	0.697000	0.40408	8.667000	0.91153	2.432000	0.82394	0.544000	0.68410	GAG	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.647	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	G	NM_001848		47421214	+1	no_errors	ENST00000361866	ensembl	human	known	70_37	missense	SNP	1.000	C
COL9A3	1299	genome.wustl.edu	37	20	61453150	61453150	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:61453150C>T	ENST00000343916.3	+	8	414	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	137	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGATCGGCCTCCGCGGCCCCC	0.692																																																	0													14.0	17.0	16.0					20																	61453150		2191	4291	6482	SO:0001819	synonymous_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.411C>T	20.37:g.61453150C>T			Q13681|Q9H4G9|Q9UPE2	Silent	SNP	pfam_Collagen	p.L137	ENST00000343916.3	37	c.411	CCDS13505.1	20																																																																																			COL9A3	-	pfam_Collagen		0.692	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61453150	+1	no_errors	ENST00000343916	ensembl	human	known	70_37	silent	SNP	0.990	T
COPS5	10987	genome.wustl.edu	37	8	67968821	67968821	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:67968821C>T	ENST00000357849.4	-	5	912	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000517736.1_Missense_Mutation_p.E134K|PPP1R42_ENST00000517834.1_5'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	198					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAAGGTCCTTCATCAGGAGGT	0.274																																																	0													79.0	79.0	79.0					8																	67968821		2203	4300	6503	SO:0001583	missense	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.592G>A	8.37:g.67968821C>T	ENSP00000350512:p.Glu198Lys		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E198K	ENST00000357849.4	37	c.592	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204899	0.58234	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.78801	2.425	0.80722	D	1	P;B;P	0.40398	0.605;0.159;0.716	B;B;B	0.41813	0.108;0.14;0.367	T	0.70256	-0.4922	9	0.36615	T	0.2	-2.4808	18.5779	0.91162	0.0:1.0:0.0:0.0	.	167;134;198	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	K	198;134;134	.	ENSP00000350512:E198K	E	-	1	0	COPS5	68131375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.779000	0.85648	2.454000	0.82982	0.650000	0.86243	GAA	COPS5	-	NULL		0.274	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS5	HGNC	protein_coding	OTTHUMT00000379245.2	C			67968821	-1	no_errors	ENST00000357849	ensembl	human	known	70_37	missense	SNP	1.000	T
CPEB2	132864	genome.wustl.edu	37	4	15004565	15004565	+	5'Flank	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:15004565C>T	ENST00000507071.1	+	0	0				RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_5'Flank|CPEB2_ENST00000259997.5_5'Flank|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q90*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q90*|CPEB2_ENST00000382401.3_5'Flank|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q90*|CPEB2_ENST00000345451.3_5'Flank			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2						cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CCTGGCGCATCAGCAGACCAT	0.731																																																	0																																										SO:0001631	upstream_gene_variant	132864			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669		4.37:g.15004565C>T	Exception_encountered		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q90*	ENST00000507071.1	37	c.268		4	.	.	.	.	.	.	.	.	.	.	c	34	5.302318	0.95601	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003	.	.	.	2.71	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.432	0.32764	0.2318:0.7682:0.0:0.0	.	.	.	.	X	90	.	ENSP00000414270:Q90X	Q	+	1	0	CPEB2	14613663	0.998000	0.40836	0.992000	0.48379	0.992000	0.81027	2.708000	0.47152	1.521000	0.48983	0.424000	0.28305	CAG	CPEB2	-	NULL		0.731	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	C	XM_059607		15004565	+1	no_errors	ENST00000538197	ensembl	human	known	70_37	nonsense	SNP	0.998	T
CRELD1	78987	genome.wustl.edu	37	3	9984502	9984502	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:9984502G>C	ENST00000383811.3	+	7	1338	c.739G>C	c.(739-741)Gat>Cat	p.D247H	CRELD1_ENST00000326434.5_Missense_Mutation_p.D247H|CRELD1_ENST00000452070.1_Missense_Mutation_p.D247H|CRELD1_ENST00000397170.3_Missense_Mutation_p.D247H|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	247					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGCAGACATTGATGAGTGTGG	0.517																																																	0													97.0	87.0	90.0					3																	9984502		2203	4300	6503	SO:0001583	missense	78987			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.739G>C	3.37:g.9984502G>C	ENSP00000373322:p.Asp247His		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D247H	ENST00000383811.3	37	c.739	CCDS2593.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.407388|4.407388	0.83230|0.83230	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434|ENST00000435417	D;D;D;D|.	0.95622|.	-3.76;-3.76;-3.76;-3.76|.	4.74|4.74	4.74|4.74	0.60224|0.60224	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);|.	0.147573|.	0.48767|.	D|.	0.000161|.	D|.	0.87577|.	0.6212|.	H|H	0.96996|0.96996	3.92|3.92	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|.	0.91838|.	0.5481|.	9|.	.|.	.|.	.|.	.|.	15.2185|15.2185	0.73288|0.73288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	247;247|.	Q96HD1;Q96HD1-2|.	CREL1_HUMAN;.|.	H|S	247|9	ENSP00000380355:D247H;ENSP00000373322:D247H;ENSP00000393643:D247H;ENSP00000321856:D247H|.	.|.	D|X	+|+	1|2	0|2	CRELD1|CRELD1	9959502|9959502	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.881000|0.881000	0.50899|0.50899	9.627000|9.627000	0.98412|0.98412	2.172000|2.172000	0.68678|0.68678	0.491000|0.491000	0.48974|0.48974	GAT|TGA	CRELD1	-	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EGF-like_Ca-bd		0.517	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRELD1	HGNC	protein_coding	OTTHUMT00000250533.1	G	NM_015513		9984502	+1	no_errors	ENST00000326434	ensembl	human	known	70_37	missense	SNP	0.998	C
CROCCP3	114819	genome.wustl.edu	37	1	16804831	16804831	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:16804831C>T	ENST00000263511.4	-	0	2105					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCGCTGGCGCCGCAGCTCCTC	0.677																																																	0																																												114819			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16804831C>T			Q96PW6	RNA	SNP	-	NULL	ENST00000263511.4	37	NULL		1																																																																																			CROCCP3	-	-		0.677	CROCCP3-002	KNOWN	basic	processed_transcript	CROCCP3	HGNC	pseudogene	OTTHUMT00000458172.1	C	XM_057040		16804831	-1	no_errors	ENST00000263511	ensembl	human	known	70_37	rna	SNP	1.000	T
CROCCP3	114819	genome.wustl.edu	37	1	16809787	16809787	+	RNA	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:16809787C>G	ENST00000263511.4	-	0	1998					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGCACCTTCTCAGGAGCTCTT	0.627																																																	0																																												114819			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16809787C>G			Q96PW6	RNA	SNP	-	NULL	ENST00000263511.4	37	NULL		1																																																																																			CROCCP3	-	-		0.627	CROCCP3-002	KNOWN	basic	processed_transcript	CROCCP3	HGNC	pseudogene	OTTHUMT00000458172.1	C	XM_057040		16809787	-1	no_errors	ENST00000263511	ensembl	human	known	70_37	rna	SNP	0.997	G
CSNK1D	1453	genome.wustl.edu	37	17	80209270	80209270	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:80209270C>A	ENST00000314028.6	-	6	1219	c.870G>T	c.(868-870)tgG>tgT	p.W290C	CSNK1D_ENST00000398519.5_Missense_Mutation_p.W290C|CSNK1D_ENST00000392334.2_Missense_Mutation_p.W290C|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	290	Centrosomal localization signal (CLS).				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TGAGCATGTTCCAGTCGAACA	0.562																																																	0													86.0	73.0	77.0					17																	80209270		2203	4300	6503	SO:0001583	missense	1453				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.870G>T	17.37:g.80209270C>A	ENSP00000324464:p.Trp290Cys		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.W290C	ENST00000314028.6	37	c.870	CCDS11805.1	17	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990073	0.54041	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T	0.26660	1.72;1.72	5.43	5.43	0.79202	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.996;0.991	T	0.54997	-0.8209	10	0.87932	D	0	.	18.2475	0.89991	0.0:1.0:0.0:0.0	.	179;290;290;233	B4DIJ9;P48730;P48730-2;B4E0G1	.;KC1D_HUMAN;.;.	C	290;290;233;182	ENSP00000324464:W290C;ENSP00000376146:W290C	ENSP00000269361:W182C	W	-	3	0	CSNK1D	77802559	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.755000	0.85180	2.557000	0.86248	0.655000	0.94253	TGG	CSNK1D	-	superfamily_Kinase-like_dom		0.562	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSNK1D	HGNC	protein_coding	OTTHUMT00000442632.1	C	NM_139062		80209270	-1	no_errors	ENST00000314028	ensembl	human	known	70_37	missense	SNP	1.000	A
CSPG5	10675	genome.wustl.edu	37	3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:47619161C>T	ENST00000383738.2	-	2	2453	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.D119N|CSPG5_ENST00000456150.1_5'UTR	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	119					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692																																																	0													31.0	37.0	35.0					3																	47619161		2193	4287	6480	SO:0001583	missense	10675			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.355G>A	3.37:g.47619161C>T	ENSP00000373244:p.Asp119Asn		Q71M39|Q71M40	Missense_Mutation	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.D119N	ENST00000383738.2	37	c.355	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775440	0.90108	.	.	ENSG00000114646	ENST00000383738;ENST00000264723	T;T	0.50548	0.74;0.74	3.92	3.92	0.45320	Chondroitin sulphate attachment (1);	0.086056	0.45126	D	0.000391	T	0.53286	0.1787	L	0.27053	0.805	0.33250	D	0.558451	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.64719	-0.6341	10	0.66056	D	0.02	-27.6038	11.6049	0.51026	0.0:1.0:0.0:0.0	.	119;119	O95196;O95196-2	CSPG5_HUMAN;.	N	119	ENSP00000373244:D119N;ENSP00000264723:D119N	ENSP00000264723:D119N	D	-	1	0	CSPG5	47594165	0.419000	0.25449	0.998000	0.56505	0.913000	0.54294	2.246000	0.43142	2.189000	0.69895	0.579000	0.79373	GAT	CSPG5	-	pfam_Chon_Sulph_att		0.692	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	C	NM_006574		47619161	-1	no_errors	ENST00000383738	ensembl	human	known	70_37	missense	SNP	0.997	T
CTNS	1497	genome.wustl.edu	37	17	3552207	3552207	+	Silent	SNP	C	C	T	rs113994204		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:3552207C>T	ENST00000046640.3	+	5	800	c.207C>T	c.(205-207)atC>atT	p.I69I	CTNS_ENST00000381870.3_Silent_p.I69I|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000399306.2_Silent_p.I69I|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000488623.1_3'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	69			Missing (in CTNSJAN). {ECO:0000269|PubMed:9792862}.		adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ATATTACTATCCTTGAGCTCC	0.413																																																	0													140.0	121.0	127.0					17																	3552207		2203	4300	6503	SO:0001819	synonymous_variant	1497			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.207C>T	17.37:g.3552207C>T			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	smart_CTNS,tigrfam_LC_transporter	p.I69	ENST00000046640.3	37	c.207	CCDS11031.1	17																																																																																			CTNS	-	NULL		0.413	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	C	NM_004937		3552207	+1	no_errors	ENST00000381870	ensembl	human	known	70_37	silent	SNP	0.999	T
CTPS2	56474	genome.wustl.edu	37	X	16701275	16701275	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:16701275G>A	ENST00000443824.1	-	9	1690	c.947C>T	c.(946-948)tCt>tTt	p.S316F	CTPS2_ENST00000380241.3_Missense_Mutation_p.S316F|CTPS2_ENST00000359276.4_Missense_Mutation_p.S316F	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	316	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTTGAACACAGAGGCGTAGCA	0.468																																																	0													213.0	178.0	189.0					X																	16701275		2203	4300	6503	SO:0001583	missense	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.947C>T	X.37:g.16701275G>A	ENSP00000401264:p.Ser316Phe		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.S316F	ENST00000443824.1	37	c.947	CCDS14175.1	X	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512918	0.85389	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	D;D;D	0.92699	-3.09;-3.09;-3.09	5.75	5.75	0.90469	Glutamine amidotransferase type 1 (2);	0.000000	0.64402	D	0.000005	D	0.98115	0.9378	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99774	1.1025	10	0.87932	D	0	-17.4382	18.9111	0.92485	0.0:0.0:1.0:0.0	.	316	Q9NRF8	PYRG2_HUMAN	F	316	ENSP00000401264:S316F;ENSP00000369590:S316F;ENSP00000352222:S316F	ENSP00000352222:S316F	S	-	2	0	CTPS2	16611196	1.000000	0.71417	0.100000	0.21137	0.890000	0.51754	9.188000	0.94921	2.413000	0.81919	0.600000	0.82982	TCT	CTPS2	-	pfam_GATASE_1,tigrfam_CTP_synthase		0.468	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	HGNC	protein_coding	OTTHUMT00000055906.1	G	NM_019857		16701275	-1	no_errors	ENST00000359276	ensembl	human	known	70_37	missense	SNP	0.995	A
CTSB	1508	genome.wustl.edu	37	8	11704595	11704595	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:11704595G>A	ENST00000353047.6	-	8	1012	c.759C>T	c.(757-759)ttC>ttT	p.F253F	RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000534510.1_Silent_p.F253F|CTSB_ENST00000453527.2_Silent_p.F253F|CTSB_ENST00000345125.3_Silent_p.F253F|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000533455.1_Silent_p.F253F|CTSB_ENST00000530640.2_Silent_p.F253F|CTSB_ENST00000531089.1_Silent_p.F253F|CTSB_ENST00000434271.1_Silent_p.F253F|CTSB_ENST00000525076.1_5'Flank	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	253					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		AATACACAGAGAAAGCTCCCT	0.557																																																	0													94.0	86.0	89.0					8																	11704595		2203	4300	6503	SO:0001819	synonymous_variant	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.759C>T	8.37:g.11704595G>A			B3KQR5|B3KRR5|Q503A6|Q96D87	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.F253	ENST00000353047.6	37	c.759	CCDS5986.1	8																																																																																			CTSB	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.557	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSB	HGNC	protein_coding	OTTHUMT00000207586.3	G	NM_147780		11704595	-1	no_errors	ENST00000353047	ensembl	human	known	70_37	silent	SNP	0.518	A
CUL1	8454	genome.wustl.edu	37	7	148454089	148454089	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:148454089G>A	ENST00000325222.4	+	4	609	c.330G>A	c.(328-330)ttG>ttA	p.L110L	CUL1_ENST00000602748.1_Silent_p.L110L|CUL1_ENST00000409469.1_Silent_p.L110L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGAAGATTTGATGGATGAGA	0.313																																																	0													125.0	129.0	127.0					7																	148454089		2203	4300	6503	SO:0001819	synonymous_variant	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.330G>A	7.37:g.148454089G>A			D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	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.L110	ENST00000325222.4	37	c.330	CCDS34772.1	7																																																																																			CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.313	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148454089	+1	no_errors	ENST00000325222	ensembl	human	known	70_37	silent	SNP	1.000	A
CUL2	8453	genome.wustl.edu	37	10	35338621	35338621	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:35338621C>G	ENST00000374748.1	-	7	809	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q	CUL2_ENST00000537177.1_Missense_Mutation_p.E185Q|CUL2_ENST00000602371.1_Missense_Mutation_p.E109Q|CUL2_ENST00000374749.3_Missense_Mutation_p.E166Q|CUL2_ENST00000374751.3_Missense_Mutation_p.E166Q|CUL2_ENST00000374746.1_Missense_Mutation_p.E166Q|CUL2_ENST00000374742.1_Missense_Mutation_p.E166Q			Q13617	CUL2_HUMAN	cullin 2	166					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTTTGATTTCTCGGAGCAGC	0.393																																																	0													75.0	72.0	73.0					10																	35338621		2203	4300	6503	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.496G>C	10.37:g.35338621C>G	ENSP00000363880:p.Glu166Gln		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	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.E185Q	ENST00000374748.1	37	c.553	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888946	0.52014	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.76	5.76	0.90799	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.16368	0.405	0.80722	D	1	P;P	0.43352	0.767;0.804	B;P	0.45913	0.363;0.497	T	0.02104	-1.1213	10	0.13470	T	0.59	-20.1815	19.967	0.97274	0.0:1.0:0.0:0.0	.	185;166	G3V1S2;Q13617	.;CUL2_HUMAN	Q	166;166;166;166;109;166;185;166	ENSP00000363883:E166Q;ENSP00000363880:E166Q;ENSP00000363878:E166Q;ENSP00000363881:E166Q;ENSP00000363874:E166Q;ENSP00000444856:E185Q;ENSP00000414095:E166Q	ENSP00000363874:E166Q	E	-	1	0	CUL2	35378627	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.777000	0.85628	2.714000	0.92807	0.655000	0.94253	GAA	CUL2	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.393	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	C	NM_003591		35338621	-1	no_errors	ENST00000537177	ensembl	human	known	70_37	missense	SNP	1.000	G
CUL4A	8451	genome.wustl.edu	37	13	113893808	113893808	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:113893808C>T	ENST00000375440.4	+	10	1062	c.978C>T	c.(976-978)ttC>ttT	p.F326F	CUL4A_ENST00000451881.1_Silent_p.F226F|CUL4A_ENST00000375441.3_Silent_p.F226F|CUL4A_ENST00000326335.4_Silent_p.F226F	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	326					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACCAGCTGTTCAGCCGGGTGA	0.622																																																	0													71.0	66.0	68.0					13																	113893808		2203	4300	6503	SO:0001819	synonymous_variant	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.978C>T	13.37:g.113893808C>T			A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	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.F326	ENST00000375440.4	37	c.978	CCDS41908.1	13																																																																																			CUL4A	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.622	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	C	NM_003589		113893808	+1	no_errors	ENST00000375440	ensembl	human	known	70_37	silent	SNP	1.000	T
CUX1	1523	genome.wustl.edu	37	7	101882709	101882709	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:101882709G>A	ENST00000292535.7	+	23	3770	c.3732G>A	c.(3730-3732)ctG>ctA	p.L1244L	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.L1086L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.L1188L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.L1255L|CUX1_ENST00000549414.2_Silent_p.L1222L|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.L1142L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1244					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCACCAGCTGAAGAAACCCC	0.642																																																	0													34.0	38.0	36.0					7																	101882709		2203	4300	6503	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3732G>A	7.37:g.101882709G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.L1255	ENST00000292535.7	37	c.3765	CCDS5721.1	7																																																																																			CUX1	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.642	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913		101882709	+1	no_errors	ENST00000360264	ensembl	human	known	70_37	silent	SNP	0.999	A
CXorf21	80231	genome.wustl.edu	37	X	30577856	30577856	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:30577856G>A	ENST00000378962.3	-	3	939	c.617C>T	c.(616-618)tCt>tTt	p.S206F		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	206								p.S206F(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AACTGCATTAGAAATAGGATT	0.418																																																	1	Substitution - Missense(1)	lung(1)											144.0	130.0	135.0					X																	30577856		2202	4300	6502	SO:0001583	missense	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.617C>T	X.37:g.30577856G>A	ENSP00000368245:p.Ser206Phe			Missense_Mutation	SNP	NULL	p.S206F	ENST00000378962.3	37	c.617	CCDS14224.1	X	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030636	0.75504	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82376	-0.0488	9	0.87932	D	0	-17.7037	17.6374	0.88127	0.0:0.0:1.0:0.0	.	206	Q9HAI6	CX021_HUMAN	F	206	.	ENSP00000368245:S206F	S	-	2	0	CXorf21	30487777	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.043000	0.93799	2.351000	0.79841	0.513000	0.50165	TCT	CXorf21	-	NULL		0.418	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf21	HGNC	protein_coding	OTTHUMT00000056164.1	G	NM_025159		30577856	-1	no_errors	ENST00000378962	ensembl	human	known	70_37	missense	SNP	1.000	A
CYBB	1536	genome.wustl.edu	37	X	37663271	37663271	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:37663271G>A	ENST00000378588.4	+	9	1106	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000536160.1_Missense_Mutation_p.E80K|CYBB_ENST00000545017.1_Missense_Mutation_p.E315K	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	347	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ATCCGCCCCTGAGGAAGACTT	0.493																																																	0													90.0	84.0	86.0					X																	37663271		2202	4300	6502	SO:0001583	missense	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1039G>A	X.37:g.37663271G>A	ENSP00000367851:p.Glu347Lys		A8K138|Q2PP16	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.E347K	ENST00000378588.4	37	c.1039	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616212	0.87359	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.92495	-3.05;-3.05;-3.05	5.77	5.77	0.91146	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95663	0.8717	10	0.48119	T	0.1	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	315;347	F5GWD2;P04839	.;CY24B_HUMAN	K	347;315;80	ENSP00000367851:E347K;ENSP00000441896:E315K;ENSP00000441958:E80K	ENSP00000367851:E347K	E	+	1	0	CYBB	37548215	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	9.476000	0.97823	2.430000	0.82344	0.544000	0.68410	GAG	CYBB	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.493	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	G			37663271	+1	no_errors	ENST00000378588	ensembl	human	known	70_37	missense	SNP	1.000	A
CYP11A1	1583	genome.wustl.edu	37	15	74630959	74630959	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:74630959G>A	ENST00000268053.6	-	8	1541	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	CYP11A1_ENST00000419019.2_Silent_p.L305L|CYP11A1_ENST00000358632.4_Silent_p.L305L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	463					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CGCCGTCCCAGACACTGCCGC	0.562																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													150.0	132.0	138.0					15																	74630959		2198	4297	6495	SO:0001819	synonymous_variant	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1387C>T	15.37:g.74630959G>A			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L463	ENST00000268053.6	37	c.1387	CCDS32291.1	15																																																																																			CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.562	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	G			74630959	-1	no_errors	ENST00000268053	ensembl	human	known	70_37	silent	SNP	0.034	A
CYP4A11	1579	genome.wustl.edu	37	1	47395691	47395691	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:47395691G>A	ENST00000310638.4	-	0	1687				CYP4A11_ENST00000371904.4_Intron|CYP4A11_ENST00000462347.1_3'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11						arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	aggcaggtgggaagaagggaa	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.*96C>T	1.37:g.47395691G>A			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	RNA	SNP	-	NULL	ENST00000310638.4	37	NULL	CCDS543.1	1																																																																																			CYP4A11	-	-		0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	G	NM_000778		47395691	-1	no_errors	ENST00000462347	ensembl	human	known	70_37	rna	SNP	0.009	A
DAAM1	23002	genome.wustl.edu	37	14	59789712	59789712	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:59789712C>G	ENST00000395125.1	+	5	566	c.543C>G	c.(541-543)ctC>ctG	p.L181L	DAAM1_ENST00000351081.1_Silent_p.L181L|DAAM1_ENST00000360909.3_Silent_p.L181L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	181	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ATACTTCTCTCATTGGCTGTA	0.443																																																	0													119.0	112.0	114.0					14																	59789712		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.543C>G	14.37:g.59789712C>G			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.L181	ENST00000395125.1	37	c.543	CCDS9737.1	14																																																																																			DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.443	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	C	NM_014992		59789712	+1	no_errors	ENST00000351081	ensembl	human	known	70_37	silent	SNP	1.000	G
DAAM2	23500	genome.wustl.edu	37	6	39835482	39835482	+	Missense_Mutation	SNP	C	C	T	rs375083979	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:39835482C>T	ENST00000398904.2	+	6	807	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	DAAM2_ENST00000538976.1_Missense_Mutation_p.R209C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R209C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	209	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R209S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGAGCCTACGCACAGAGAA	0.582																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											54.0	58.0	57.0					6																	39835482		2182	4279	6461	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.625C>T	6.37:g.39835482C>T	ENSP00000381876:p.Arg209Cys		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R209C	ENST00000398904.2	37	c.625	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871146	0.72065	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86865	-2.18;-2.18;-2.18	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.059530	0.64402	D	0.000003	D	0.86707	0.5997	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60886	0.809;0.88	D	0.87809	0.2630	10	0.59425	D	0.04	.	10.8501	0.46765	0.1444:0.7159:0.1397:0.0	.	209;209	G5EA45;Q86T65	.;DAAM2_HUMAN	C	209	ENSP00000274867:R209C;ENSP00000381876:R209C;ENSP00000437808:R209C	ENSP00000274867:R209C	R	+	1	0	DAAM2	39943460	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.093000	0.30939	2.587000	0.87381	0.561000	0.74099	CGC	DAAM2	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	C			39835482	+1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	1.000	T
DAPK3	1613	genome.wustl.edu	37	19	3964692	3964692	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:3964692G>C	ENST00000545797.2	-	3	603	c.360C>G	c.(358-360)ctC>ctG	p.L120L	DAPK3_ENST00000301264.3_Silent_p.L120L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCTGCTTGAGGAACTGGG	0.632																																																	0													124.0	122.0	123.0					19																	3964692		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.360C>G	19.37:g.3964692G>C			A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L120	ENST00000545797.2	37	c.360	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964692	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	0.954	C
DCAF7	10238	genome.wustl.edu	37	17	61666705	61666705	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:61666705C>G	ENST00000310827.4	+	0	1417				DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7						multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CCATCGCCCTCTGTGGCAGAC	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.*171C>G	17.37:g.61666705C>G			B4E039|D3DU14|O15491|Q9DAE4	RNA	SNP	-	NULL	ENST00000310827.4	37	NULL		17																																																																																			DCAF7	-	-		0.493	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		C	NM_005828		61666705	+1	no_errors	ENST00000577702	ensembl	human	known	70_37	rna	SNP	0.381	G
DCK	1633	genome.wustl.edu	37	4	71888099	71888099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:71888099C>T	ENST00000286648.5	+	3	620	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504952.1_Nonsense_Mutation_p.Q75*|DCK_ENST00000504730.1_Nonsense_Mutation_p.Q75*	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	75					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TACAATGTCTCAGAAAAATGG	0.323																																																	0													89.0	88.0	88.0					4																	71888099		2203	4300	6503	SO:0001587	stop_gained	1633			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.223C>T	4.37:g.71888099C>T	ENSP00000286648:p.Gln75*		B2R8V6|Q5TZY7|Q6FI11	Nonsense_Mutation	SNP	pfam_Deoxynucleoside_kinase	p.Q75*	ENST00000286648.5	37	c.223	CCDS3548.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.668641	0.97747	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	.	.	.	5.96	5.11	0.69529	.	0.050844	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.2448	0.87025	0.0:0.8741:0.1258:0.0	.	.	.	.	X	75	.	ENSP00000286648:Q75X	Q	+	1	0	DCK	72106963	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.813000	0.62620	1.516000	0.48900	0.655000	0.94253	CAG	DCK	-	NULL		0.323	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	HGNC	protein_coding	OTTHUMT00000252159.2	C			71888099	+1	no_errors	ENST00000286648	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DCLRE1A	9937	genome.wustl.edu	37	10	115610113	115610113	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:115610113G>A	ENST00000361384.2	-	2	1668	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.H251Y	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	251					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTTGGATATGAGTAGAAATC	0.378								Other identified genes with known or suspected DNA repair function																																									0													78.0	80.0	80.0					10																	115610113		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.751C>T	10.37:g.115610113G>A	ENSP00000355185:p.His251Tyr		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.H251Y	ENST00000361384.2	37	c.751	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.522715	0.00967	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.63744	-0.06;-0.06	0.378	-0.755	0.11061	.	0.841800	0.11046	N	0.605570	T	0.35307	0.0927	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14755	-1.0461	9	0.52906	T	0.07	-11.3017	.	.	.	.	251	Q6PJP8	DCR1A_HUMAN	Y	251	ENSP00000355185:H251Y;ENSP00000358311:H251Y	ENSP00000355185:H251Y	H	-	1	0	DCLRE1A	115600103	0.000000	0.05858	0.004000	0.12327	0.075000	0.17131	-0.016000	0.12613	-0.556000	0.06134	-0.577000	0.04142	CAT	DCLRE1A	-	NULL		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	G	NM_014881		115610113	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	missense	SNP	0.049	A
DCP1A	55802	genome.wustl.edu	37	3	53321417	53321417	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:53321417C>T	ENST00000480258.1	-	0	2028				DCP1A_ENST00000294241.6_3'UTR|RN7SL821P_ENST00000579907.1_RNA|DCP1A_ENST00000607628.1_3'UTR|DCP1A_ENST00000606822.1_3'UTR			Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGTGATGCTTCACAGTGAAAC	0.338																																																	0																																										SO:0001623	5_prime_UTR_variant	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000480258.1:c.-3970G>A	3.37:g.53321417C>T			B4DHN9|U3KQM8	RNA	SNP	-	NULL	ENST00000480258.1	37	NULL		3																																																																																			DCP1A	-	-		0.338	DCP1A-001	KNOWN	basic	processed_transcript	DCP1A	HGNC	protein_coding	OTTHUMT00000350374.2	C	NM_018403		53321417	-1	no_errors	ENST00000294241	ensembl	human	known	70_37	rna	SNP	1.000	T
DCTN1	1639	genome.wustl.edu	37	2	74604805	74604805	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:74604805C>T	ENST00000361874.3	-	3	645	c.328G>A	c.(328-330)Gat>Aat	p.D110N	DCTN1_ENST00000409567.3_Missense_Mutation_p.D110N|DCTN1_ENST00000409438.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.D110N|DCTN1_ENST00000407639.2_5'Flank|DCTN1_ENST00000409868.1_Missense_Mutation_p.D93N|DCTN1_ENST00000409240.1_Missense_Mutation_p.D93N	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	110					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)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCAGAAGAATCAGGTGTCTCT	0.448																																																	0													161.0	162.0	162.0					2																	74604805		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.328G>A	2.37:g.74604805C>T	ENSP00000354791:p.Asp110Asn		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.D110N	ENST00000361874.3	37	c.328	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277742	0.80692	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090	T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.17	5.17	0.71159	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.44688	D	0.000436	T	0.57932	0.2087	N	0.14661	0.345	0.80722	D	1	B;B;P;B	0.34522	0.309;0.007;0.455;0.156	B;B;B;B	0.27608	0.081;0.009;0.077;0.037	T	0.60063	-0.7336	10	0.36615	T	0.2	-9.2242	17.5724	0.87939	0.0:1.0:0.0:0.0	.	110;93;110;110	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	N	110;110;93;93;93;110;117;93;114	ENSP00000354791:D110N;ENSP00000377571:D110N;ENSP00000386406:D93N;ENSP00000387327:D93N;ENSP00000386843:D110N;ENSP00000414315:D117N;ENSP00000404038:D93N;ENSP00000402509:D114N	ENSP00000354791:D110N	D	-	1	0	DCTN1	74458313	1.000000	0.71417	0.965000	0.40720	0.926000	0.56050	7.251000	0.78297	2.680000	0.91292	0.655000	0.94253	GAT	DCTN1	-	superfamily_CAP-Gly_domain		0.448	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	C	NM_004082		74604805	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	T
DDR2	4921	genome.wustl.edu	37	1	162725511	162725511	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:162725511C>A	ENST00000367922.3	+	8	1061	c.623C>A	c.(622-624)tCc>tAc	p.S208Y	DDR2_ENST00000367921.3_Missense_Mutation_p.S208Y	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	208					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CCTGGAGGTTCCATCATTTAT	0.453																																					NSCLC(161;314 2006 8283 19651 23192)												0													172.0	165.0	168.0					1																	162725511		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.623C>A	1.37:g.162725511C>A	ENSP00000356899:p.Ser208Tyr		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S208Y	ENST00000367922.3	37	c.623	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522867	0.44866	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.26957	1.7;1.7	5.81	5.81	0.92471	.	0.305702	0.37669	N	0.001997	T	0.10852	0.0265	L	0.29908	0.895	0.30020	N	0.814432	B	0.02656	0.0	B	0.04013	0.001	T	0.04723	-1.0931	9	0.59425	D	0.04	.	13.6017	0.62024	0.1552:0.8448:0.0:0.0	.	208	Q16832	DDR2_HUMAN	Y	208	ENSP00000356899:S208Y;ENSP00000356898:S208Y	ENSP00000356898:S208Y	S	+	2	0	DDR2	160992135	0.015000	0.18098	0.999000	0.59377	0.988000	0.76386	1.502000	0.35704	2.741000	0.93983	0.650000	0.86243	TCC	DDR2	-	NULL		0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	C	NM_006182		162725511	+1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	0.964	A
DDX39B	7919	genome.wustl.edu	37	6	31506809	31506809	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:31506809G>C	ENST00000396172.1	-	3	970				DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000453105.2_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000449074.2_Missense_Mutation_p.L123V|SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000458640.1_Intron|DDX39B_ENST00000417556.2_Intron|SNORD117_ENST00000364915.1_RNA	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGTTGTCAAGGGTAACAGAG	0.473																																																	0																																										SO:0001627	intron_variant	7919			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.339+114C>G	6.37:g.31506809G>C			B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfscan_RNA_helicase_DEAD_Q_motif	p.L123V	ENST00000396172.1	37	c.367	CCDS4697.1	6	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925914	0.34002	.	.	ENSG00000198563	ENST00000449074	T	0.29655	1.56	5.08	-0.388	0.12459	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32052	-0.9921	6	0.87932	D	0	.	4.4632	0.11676	0.4336:0.1634:0.403:0.0	.	.	.	.	V	123	ENSP00000391946:L123V	ENSP00000391946:L123V	L	-	1	0	DDX39B	31614788	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.002000	0.12924	-0.451000	0.07097	0.655000	0.94253	CTT	DDX39B	-	NULL		0.473	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39B	HGNC	protein_coding	OTTHUMT00000259083.1	G	NM_004640		31506809	-1	no_errors	ENST00000449074	ensembl	human	known	70_37	missense	SNP	0.003	C
DENND1B	163486	genome.wustl.edu	37	1	197552366	197552366	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:197552366G>C	ENST00000367396.3	-	15	1234	c.1065C>G	c.(1063-1065)ttC>ttG	p.F355L	DENND1B_ENST00000235453.4_Missense_Mutation_p.F325L|DENND1B_ENST00000400967.2_Missense_Mutation_p.F325L	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	355	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TCTCCTCACAGAAAGTGATGG	0.413																																																	0													75.0	72.0	73.0					1																	197552366		1852	4112	5964	SO:0001583	missense	163486			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1065C>G	1.37:g.197552366G>C	ENSP00000356366:p.Phe355Leu		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.F355L	ENST00000367396.3	37	c.1065	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498307	0.85069	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.76186	-1.0;-1.0;-1.0	6.02	3.15	0.36227	dDENN (3);	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.85630	2.765	0.54753	D	0.99998	D;P;D	0.76494	0.999;0.913;0.98	D;P;P	0.75020	0.985;0.818;0.815	D	0.85761	0.1349	9	.	.	.	-23.2777	10.9674	0.47421	0.2089:0.0:0.7911:0.0	.	355;355;325	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	L	355;335;325;355;325	ENSP00000235453:F325L;ENSP00000356366:F355L;ENSP00000383751:F325L	.	F	-	3	2	DENND1B	195818989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.607000	0.46300	0.900000	0.36469	0.655000	0.94253	TTC	DENND1B	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.413	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	G	NM_144977		197552366	-1	no_errors	ENST00000367396	ensembl	human	known	70_37	missense	SNP	1.000	C
DERL3	91319	genome.wustl.edu	37	22	24180753	24180753	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:24180753G>T	ENST00000318109.7	-	3	247	c.231C>A	c.(229-231)ttC>ttA	p.F77L	DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Missense_Mutation_p.F77L|DERL3_ENST00000476077.1_Missense_Mutation_p.F77L|DERL3_ENST00000404056.1_Missense_Mutation_p.R82S			Q96Q80	DERL3_HUMAN	derlin 3	77					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CAGGATACACGAAGAGCATGT	0.682																																																	0													23.0	26.0	25.0					22																	24180753		2194	4291	6485	SO:0001583	missense	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.231C>A	22.37:g.24180753G>T	ENSP00000315303:p.Phe77Leu		F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	pfam_DER1	p.F77L	ENST00000318109.7	37	c.231	CCDS33615.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.119167|4.119167	0.77323|0.77323	.|.	.|.	ENSG00000099958|ENSG00000099958	ENST00000406855;ENST00000318109;ENST00000476077|ENST00000404056	T;T;T|.	0.34859|.	1.34;1.34;1.34|.	5.23|5.23	3.13|3.13	0.36017|0.36017	.|.	0.060539|.	0.64402|.	D|.	0.000003|.	T|T	0.64527|0.64527	0.2606|0.2606	M|M	0.81239|0.81239	2.535|2.535	0.58432|0.58432	D|D	0.999996|0.999996	P;D;P|.	0.76494|.	0.919;0.999;0.934|.	P;D;P|.	0.72075|.	0.667;0.976;0.776|.	T|T	0.64774|0.64774	-0.6328|-0.6328	10|6	0.72032|0.46703	D|T	0.01|0.11	-39.5654|-39.5654	3.8391|3.8391	0.08906|0.08906	0.2443:0.0:0.5793:0.1764|0.2443:0.0:0.5793:0.1764	.|.	77;3;77|.	Q96Q80-2;Q96Q80-4;Q96Q80|.	.;.;DERL3_HUMAN|.	L|S	77|82	ENSP00000384744:F77L;ENSP00000315303:F77L;ENSP00000419399:F77L|.	ENSP00000315303:F77L|ENSP00000384473:R82S	F|R	-|-	3|1	2|0	DERL3|DERL3	22510753|22510753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.845000|1.845000	0.39279|0.39279	1.375000|1.375000	0.46248|0.46248	0.555000|0.555000	0.69702|0.69702	TTC|CGT	DERL3	-	pfam_DER1		0.682	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24180753	-1	no_errors	ENST00000318109	ensembl	human	known	70_37	missense	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32380950	32380950	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:32380950G>C	ENST00000357033.4	-	37	5486	c.5280C>G	c.(5278-5280)ctC>ctG	p.L1760L	DMD_ENST00000378677.2_Silent_p.L1756L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1760	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCGATGGTTGAGCTCTGAGA	0.478																																																	0													231.0	172.0	192.0					X																	32380950		2202	4300	6502	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5280C>G	X.37:g.32380950G>C			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L1760	ENST00000357033.4	37	c.5280	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.478	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32380950	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	silent	SNP	1.000	C
DMKN	93099	genome.wustl.edu	37	19	35989789	35989789	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:35989789G>A	ENST00000339686.3	-	14	1546	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	DMKN_ENST00000443640.1_Missense_Mutation_p.S234L|DMKN_ENST00000429837.1_Missense_Mutation_p.S430L|DMKN_ENST00000472252.2_Missense_Mutation_p.S104L|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000419602.1_Missense_Mutation_p.S446L|DMKN_ENST00000602781.1_Missense_Mutation_p.S184L|DMKN_ENST00000467637.1_Missense_Mutation_p.S182L|DMKN_ENST00000408915.2_Missense_Mutation_p.S71L|DMKN_ENST00000402589.2_Missense_Mutation_p.S184L|DMKN_ENST00000492341.2_Missense_Mutation_p.S104L|DMKN_ENST00000436012.1_Missense_Mutation_p.S153L|DMKN_ENST00000414866.2_Missense_Mutation_p.S170L|DMKN_ENST00000480502.1_Missense_Mutation_p.S165L	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	457						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGAAGAAGGTGAGACTCCCCC	0.587																																																	0													68.0	60.0	63.0					19																	35989789		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1370C>T	19.37:g.35989789G>A	ENSP00000342012:p.Ser457Leu		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.S457L	ENST00000339686.3	37	c.1370	CCDS12463.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.94|13.94	2.385666|2.385666	0.42308|0.42308	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000443857|ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640	.|T;T;T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.25|4.25	2.13|2.13	0.27403|0.27403	.|.	.|0.596474	.|0.14236	.|N	.|0.332385	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;P;P;B;B;B;B	.|0.38597	.|0.137;0.0;0.0;0.001;0.628;0.639;0.001;0.0;0.0;0.002	.|B;B;B;B;B;B;B;B;B;B	.|0.34242	.|0.058;0.001;0.001;0.001;0.09;0.178;0.002;0.001;0.001;0.001	T|T	0.12604|0.12604	-1.0541|-1.0541	5|10	.|0.87932	.|D	.|0	-4.5353|-4.5353	6.0135|6.0135	0.19589|0.19589	0.2269:0.0:0.7731:0.0|0.2269:0.0:0.7731:0.0	.|.	.|127;113;133;151;446;430;457;170;234;71	.|Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15	.|.;.;.;.;.;.;DMKN_HUMAN;.;.;.	Y|L	175|71;184;457;153;170;430;446;234	.|ENSP00000386225:S71L;ENSP00000384509:S184L;ENSP00000342012:S457L;ENSP00000412075:S153L;ENSP00000392222:S170L;ENSP00000405503:S430L;ENSP00000391036:S446L;ENSP00000406864:S234L	.|ENSP00000342012:S457L	H|S	-|-	1|2	0|0	DMKN|DMKN	40681629|40681629	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.364000|0.364000	0.29643|0.29643	0.579000|0.579000	0.23788|0.23788	1.149000|1.149000	0.42402|0.42402	0.484000|0.484000	0.47621|0.47621	CAC|TCA	DMKN	-	NULL		0.587	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	G	NM_033317		35989789	-1	no_errors	ENST00000339686	ensembl	human	known	70_37	missense	SNP	0.001	A
DNAH11	8701	genome.wustl.edu	37	7	21901510	21901510	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:21901510G>A	ENST00000409508.3	+	69	11273	c.11242G>A	c.(11242-11244)Gac>Aac	p.D3748N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D3755N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3755					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGAGCAGGCTGACAAGGTGGA	0.507									Kartagener syndrome																																								0													86.0	88.0	87.0					7																	21901510		2041	4201	6242	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11242G>A	7.37:g.21901510G>A	ENSP00000475939:p.Asp3748Asn		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3755N	ENST00000409508.3	37	c.11263		7	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777815	0.31502	.	.	ENSG00000105877	ENST00000328843	T	0.54279	0.58	5.65	5.65	0.86999	.	0.296450	0.40908	D	0.000997	T	0.45538	0.1347	.	.	.	0.35899	D	0.830226	B	0.16166	0.016	B	0.14023	0.01	T	0.44682	-0.9312	9	0.28530	T	0.3	.	19.3382	0.94329	0.0:0.0:1.0:0.0	.	3755	Q96DT5	DYH11_HUMAN	N	3755	ENSP00000330671:D3755N	ENSP00000330671:D3755N	D	+	1	0	DNAH11	21868035	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	4.677000	0.61634	2.656000	0.90262	0.591000	0.81541	GAC	DNAH11	-	NULL		0.507	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21901510	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	0.931	A
DNAH17	8632	genome.wustl.edu	37	17	76501392	76501392	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:76501392A>T	ENST00000585328.1	-	31	5054	c.4930T>A	c.(4930-4932)Tgc>Agc	p.C1644S	DNAH17_ENST00000389840.5_Missense_Mutation_p.C1643S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1643	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGAGGTCGCATTCCTGATCA	0.577																																																	0													76.0	76.0	76.0					17																	76501392		2115	4234	6349	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4930T>A	17.37:g.76501392A>T	ENSP00000465516:p.Cys1644Ser		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.C1643S	ENST00000585328.1	37	c.4927		17	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637933	0.47049	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.60920	0.15	4.02	4.02	0.46733	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.72637	0.3485	M	0.82433	2.59	0.44728	D	0.997726	P	0.50369	0.934	P	0.56788	0.806	T	0.78259	-0.2273	9	0.87932	D	0	.	13.1032	0.59233	1.0:0.0:0.0:0.0	.	1643	Q9UFH2	DYH17_HUMAN	S	1644;1643	ENSP00000374490:C1643S	ENSP00000300671:C1644S	C	-	1	0	DNAH17	74012987	1.000000	0.71417	0.052000	0.19188	0.051000	0.14879	6.775000	0.75018	1.669000	0.50854	0.454000	0.30748	TGC	DNAH17	-	pfam_Dynein_heavy_dom-2		0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	A	NM_173628		76501392	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	0.993	T
DNAH3	55567	genome.wustl.edu	37	16	20975107	20975107	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:20975107C>G	ENST00000261383.3	-	53	10098	c.10099G>C	c.(10099-10101)Gag>Cag	p.E3367Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3367					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E3367Q(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCCTTCTCAAACAGAGAA	0.493																																																	2	Substitution - Missense(2)	cervix(2)											133.0	105.0	114.0					16																	20975107		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10099G>C	16.37:g.20975107C>G	ENSP00000261383:p.Glu3367Gln		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.E3367Q	ENST00000261383.3	37	c.10099	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305280	0.81247	.	.	ENSG00000158486	ENST00000261383	T	0.68181	-0.31	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91913	0.5541	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	3367	Q8TD57	DYH3_HUMAN	Q	3367	ENSP00000261383:E3367Q	ENSP00000261383:E3367Q	E	-	1	0	DNAH3	20882608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	GAG	DNAH3	-	NULL		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20975107	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH7	56171	genome.wustl.edu	37	2	196849388	196849388	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:196849388G>A	ENST00000312428.6	-	15	1901	c.1801C>T	c.(1801-1803)Cct>Tct	p.P601S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	601	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTATTTGGAGGAGTGCTAAGA	0.323																																																	0													139.0	128.0	131.0					2																	196849388		1835	4085	5920	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1801C>T	2.37:g.196849388G>A	ENSP00000311273:p.Pro601Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.P601S	ENST00000312428.6	37	c.1801	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638997	0.87760	.	.	ENSG00000118997	ENST00000312428	T	0.26810	1.71	5.35	5.35	0.76521	.	0.128949	0.52532	D	0.000077	T	0.58921	0.2156	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65804	-0.6079	10	0.66056	D	0.02	.	18.6408	0.91394	0.0:0.0:1.0:0.0	.	601	Q8WXX0	DYH7_HUMAN	S	601	ENSP00000311273:P601S	ENSP00000311273:P601S	P	-	1	0	DNAH7	196557633	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.505000	0.81655	2.503000	0.84419	0.655000	0.94253	CCT	DNAH7	-	NULL		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196849388	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.997	A
DNAJB2	3300	genome.wustl.edu	37	2	220147867	220147867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:220147867C>A	ENST00000336576.5	+	7	746	c.458C>A	c.(457-459)tCa>tAa	p.S153*	DNAJB2_ENST00000392086.4_Nonsense_Mutation_p.S153*|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	153					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCCTCCTCATCTTTCTCC	0.577																																																	0													113.0	79.0	91.0					2																	220147867		2203	4300	6503	SO:0001587	stop_gained	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.458C>A	2.37:g.220147867C>A	ENSP00000338019:p.Ser153*		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Nonsense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S153*	ENST00000336576.5	37	c.458	CCDS2439.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.164050	0.98107	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000392087	.	.	.	5.46	5.46	0.80206	.	0.286232	0.28209	N	0.016190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.9102	0.92481	0.0:1.0:0.0:0.0	.	.	.	.	X	153;153;153;122	.	ENSP00000338019:S153X	S	+	2	0	DNAJB2	219856111	0.998000	0.40836	0.960000	0.40013	0.998000	0.95712	3.747000	0.55134	2.550000	0.86006	0.563000	0.77884	TCA	DNAJB2	-	NULL		0.577	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	C			220147867	+1	no_errors	ENST00000336576	ensembl	human	known	70_37	nonsense	SNP	0.987	A
DNAJC8	22826	genome.wustl.edu	37	1	28530314	28530314	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:28530314C>T	ENST00000263697.4	-	8	609	c.583G>A	c.(583-585)Gag>Aag	p.E195K	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	195					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCAATCTCTTCTTCCCTT	0.408																																																	0													138.0	120.0	126.0					1																	28530314		1848	4087	5935	SO:0001583	missense	22826			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.583G>A	1.37:g.28530314C>T	ENSP00000263697:p.Glu195Lys		B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E195K	ENST00000263697.4	37	c.583	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206014	0.79127	.	.	ENSG00000126698	ENST00000263697	T	0.69306	-0.39	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.66939	2.045	0.80722	D	1	P	0.52316	0.952	P	0.49528	0.614	T	0.74420	-0.3671	10	0.40728	T	0.16	-11.0563	18.2919	0.90133	0.0:1.0:0.0:0.0	.	195	O75937	DNJC8_HUMAN	K	195	ENSP00000263697:E195K	ENSP00000263697:E195K	E	-	1	0	DNAJC8	28402901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.944000	0.75940	2.388000	0.81334	0.650000	0.86243	GAG	DNAJC8	-	NULL		0.408	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	HGNC	protein_coding	OTTHUMT00000009860.1	C	NM_014280		28530314	-1	no_errors	ENST00000263697	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAJC6	9829	genome.wustl.edu	37	1	65775468	65775468	+	Intron	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:65775468G>T	ENST00000395325.3	+	1	179				DNAJC6_ENST00000263441.7_Intron|DNAJC6_ENST00000371069.4_Missense_Mutation_p.D14Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6						cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GACCAGCAACGATGGTTATGA	0.567																																																	0																																										SO:0001627	intron_variant	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.22+44853G>T	1.37:g.65775468G>T			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.D14Y	ENST00000395325.3	37	c.40	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759603	0.69763	.	.	ENSG00000116675	ENST00000371069	D	0.94092	-3.35	4.12	4.12	0.48240	.	0.488797	0.14827	N	0.296097	D	0.96052	0.8714	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	D	0.96481	0.9356	9	0.87932	D	0	.	16.2031	0.82102	0.0:0.0:1.0:0.0	.	14	O75061-2	.	Y	14	ENSP00000360108:D14Y	ENSP00000360108:D14Y	D	+	1	0	DNAJC6	65548056	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	7.624000	0.83124	2.149000	0.67028	0.555000	0.69702	GAT	DNAJC6	-	NULL		0.567	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	G			65775468	+1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	1.000	T
DNM2	1785	genome.wustl.edu	37	19	10922966	10922966	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:10922966C>G	ENST00000355667.6	+	15	1664	c.1584C>G	c.(1582-1584)atC>atG	p.I528M	DNM2_ENST00000359692.6_Missense_Mutation_p.I524M|DNM2_ENST00000585892.1_Missense_Mutation_p.I528M|DNM2_ENST00000314646.5_Missense_Mutation_p.I528M|DNM2_ENST00000389253.4_Missense_Mutation_p.I528M|DNM2_ENST00000408974.4_Missense_Mutation_p.I524M	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	528	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCTGACCATCAACAACATCA	0.622			"""F, N, Splice, Mis, O"""		ETP ALL																																			Rec	yes		19	19p13.2	1785	dynamin 2		L	0													86.0	57.0	67.0					19																	10922966		2199	4299	6498	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1584C>G	19.37:g.10922966C>G	ENSP00000347890:p.Ile528Met		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.I528M	ENST00000355667.6	37	c.1584	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186173	0.57909	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.96365	-3.99;-3.99;-3.99	5.26	4.22	0.49857	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.66939	2.045	0.49299	D	0.99977	D;B;B;P;B;P	0.55385	0.971;0.309;0.282;0.823;0.282;0.844	D;B;P;P;P;P	0.73380	0.98;0.416;0.471;0.896;0.471;0.81	D	0.96493	0.9365	10	0.62326	D	0.03	-3.9164	7.8937	0.29693	0.1595:0.7576:0.0:0.0829	.	122;257;524;524;528;528	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	M	524;524;528;528;528;135	ENSP00000386192:I524M;ENSP00000373905:I528M;ENSP00000313164:I528M	ENSP00000313164:I528M	I	+	3	3	DNM2	10783966	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.224000	0.17738	1.217000	0.43442	0.655000	0.94253	ATC	DNM2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	C	NM_004945		10922966	+1	no_errors	ENST00000314646	ensembl	human	known	70_37	missense	SNP	1.000	G
DOCK1	1793	genome.wustl.edu	37	10	129055717	129055717	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:129055717C>T	ENST00000280333.6	+	29	3090				DOCK1_ENST00000484400.1_Intron	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AAACGGCTCTCACCTTTTCTA	0.448																																																	0													59.0	58.0	58.0					10																	129055717		1961	4154	6115	SO:0001627	intron_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2981+24C>T	10.37:g.129055717C>T			A9Z1Z5	RNA	SNP	-	NULL	ENST00000280333.6	37	NULL		10																																																																																			DOCK1	-	-		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	C	NM_001380		129055717	+1	no_errors	ENST00000495574	ensembl	human	known	70_37	rna	SNP	0.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37591770	37591770	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:37591770G>C	ENST00000399151.3	+	10	1315	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	410					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTACACCCAGAGTGGAAATT	0.458																																																	0													147.0	129.0	135.0					21																	37591770		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1230G>C	21.37:g.37591770G>C	ENSP00000382104:p.Gln410His		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.Q410H	ENST00000399151.3	37	c.1230	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352156	0.61183	.	.	ENSG00000142197	ENST00000399151	T	0.12569	2.67	5.61	2.73	0.32206	.	0.304317	0.34580	N	0.003844	T	0.27419	0.0673	M	0.68317	2.08	0.33461	D	0.584914	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.962	T	0.31668	-0.9935	10	0.51188	T	0.08	.	4.5586	0.12149	0.1923:0.2129:0.5948:0.0	.	410;410	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	410	ENSP00000382104:Q410H	ENSP00000382104:Q410H	Q	+	3	2	DOPEY2	36513640	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.139000	0.31504	1.342000	0.45619	0.558000	0.71614	CAG	DOPEY2	-	NULL		0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37591770	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	1.000	C
DPH2	1802	genome.wustl.edu	37	1	44437211	44437211	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:44437211G>C	ENST00000255108.3	+	4	809	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.E78Q|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	213					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGTCTAGAAGAGTATGGTGC	0.622																																																	0													70.0	74.0	72.0					1																	44437211		2203	4300	6503	SO:0001583	missense	1802			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.637G>C	1.37:g.44437211G>C	ENSP00000255108:p.Glu213Gln		A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.E213Q	ENST00000255108.3	37	c.637	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431169	0.25726	.	.	ENSG00000132768	ENST00000255108;ENST00000412950	T	0.42513	0.97	4.47	4.47	0.54385	.	0.181406	0.46442	D	0.000296	T	0.33235	0.0856	L	0.34521	1.04	0.31302	N	0.688135	P;P	0.48764	0.915;0.891	B;P	0.45753	0.3;0.492	T	0.38243	-0.9670	10	0.45353	T	0.12	-15.5388	7.1679	0.25702	0.087:0.0:0.7421:0.1709	.	78;213	B4DNI8;Q9BQC3	.;DPH2_HUMAN	Q	213;78	ENSP00000255108:E213Q	ENSP00000255108:E213Q	E	+	1	0	DPH2	44209798	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.429000	0.66495	2.300000	0.77407	0.552000	0.68991	GAG	DPH2	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	G	NM_001384		44437211	+1	no_errors	ENST00000255108	ensembl	human	known	70_37	missense	SNP	1.000	C
DROSHA	29102	genome.wustl.edu	37	5	31466361	31466361	+	Silent	SNP	C	C	T	rs143623944		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:31466361C>T	ENST00000511367.2	-	18	2638	c.2394G>A	c.(2392-2394)gtG>gtA	p.V798V	DROSHA_ENST00000344624.3_Silent_p.V798V|DROSHA_ENST00000513349.1_Silent_p.V761V|DROSHA_ENST00000442743.1_Silent_p.V761V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	798	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGCGAAGTTTCACATAACTCT	0.418																																																	0													186.0	168.0	174.0					5																	31466361		1901	4117	6018	SO:0001819	synonymous_variant	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2394G>A	5.37:g.31466361C>T			E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.V798	ENST00000511367.2	37	c.2394	CCDS47195.1	5																																																																																			DROSHA	-	NULL		0.418	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	C	NM_013235		31466361	-1	no_errors	ENST00000344624	ensembl	human	known	70_37	silent	SNP	1.000	T
DSCAML1	57453	genome.wustl.edu	37	11	117342593	117342593	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:117342593C>T	ENST00000321322.6	-	15	3125	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E772K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	982	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGCCTCCTCAGTGCTGATG	0.582																																																	0													119.0	108.0	111.0					11																	117342593		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3124G>A	11.37:g.117342593C>T	ENSP00000315465:p.Glu1042Lys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1042K	ENST00000321322.6	37	c.3124	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742732	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.52754	0.65;0.65	4.07	4.07	0.47477	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44664	0.1304	N	0.16602	0.42	0.58432	D	0.999997	P	0.35139	0.486	P	0.46585	0.521	T	0.50154	-0.8861	9	0.45353	T	0.12	.	16.4552	0.84009	0.0:1.0:0.0:0.0	.	982	Q8TD84	DSCL1_HUMAN	K	772;1042;749	ENSP00000434335:E772K;ENSP00000315465:E1042K	ENSP00000315465:E1042K	E	-	1	0	DSCAML1	116847803	1.000000	0.71417	0.915000	0.36163	0.650000	0.38633	5.838000	0.69388	2.075000	0.62263	0.455000	0.32223	GAG	DSCAML1	-	superfamily_Fibronectin_type3		0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117342593	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	0.997	T
DSEL	92126	genome.wustl.edu	37	18	65178784	65178784	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:65178784C>G	ENST00000310045.7	-	2	4565	c.3092G>C	c.(3091-3093)gGa>gCa	p.G1031A	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1021					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATCGAAGCTCCTAAAACTTC	0.403																																																	0													81.0	86.0	85.0					18																	65178784		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3092G>C	18.37:g.65178784C>G	ENSP00000310565:p.Gly1031Ala		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.G1031A	ENST00000310045.7	37	c.3092	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.81499	-1.5	5.17	5.17	0.71159	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.89079	0.6613	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89902	0.4045	10	0.66056	D	0.02	-15.4057	18.6816	0.91548	0.0:1.0:0.0:0.0	.	1021	Q8IZU8	DSEL_HUMAN	A	1031;1021	ENSP00000310565:G1031A	ENSP00000310565:G1031A	G	-	2	0	DSEL	63329764	1.000000	0.71417	0.952000	0.39060	0.986000	0.74619	7.717000	0.84732	2.403000	0.81681	0.563000	0.77884	GGA	DSEL	-	pfam_Sulfotransferase_dom		0.403	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65178784	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	G
DSEL	92126	genome.wustl.edu	37	18	65178899	65178899	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:65178899C>T	ENST00000310045.7	-	2	4450	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	983					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTAATATATTCAGCATCTCTA	0.378																																																	0													52.0	57.0	56.0					18																	65178899		2203	4299	6502	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2977G>A	18.37:g.65178899C>T	ENSP00000310565:p.Glu993Lys		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.E993K	ENST00000310045.7	37	c.2977	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.112400	0.94339	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19105	2.17	5.17	5.17	0.71159	Sulfotransferase domain (1);	0.068934	0.56097	U	0.000036	T	0.44746	0.1308	M	0.64997	1.995	0.58432	D	0.999994	D	0.76494	0.999	D	0.68353	0.957	T	0.28522	-1.0041	10	0.46703	T	0.11	-18.991	18.6816	0.91548	0.0:1.0:0.0:0.0	.	983	Q8IZU8	DSEL_HUMAN	K	993;983	ENSP00000310565:E993K	ENSP00000310565:E993K	E	-	1	0	DSEL	63329879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.403000	0.81681	0.563000	0.77884	GAA	DSEL	-	pfam_Sulfotransferase_dom		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65178899	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T
DSP	1832	genome.wustl.edu	37	6	7566688	7566688	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:7566688C>G	ENST00000379802.3	+	8	1359	c.1018C>G	c.(1018-1020)Cag>Gag	p.Q340E	DSP_ENST00000418664.2_Missense_Mutation_p.Q340E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	340	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGTCCTCAATCAGCATCCAGC	0.328																																																	0													124.0	120.0	121.0					6																	7566688		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1018C>G	6.37:g.7566688C>G	ENSP00000369129:p.Gln340Glu		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q340E	ENST00000379802.3	37	c.1018	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081525	0.76528	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92299	-3.01;-3.01	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000015	D	0.84946	0.5585	L	0.39020	1.185	0.43662	D	0.996084	P;P	0.37122	0.583;0.583	B;B	0.36030	0.216;0.216	D	0.84377	0.0547	10	0.29301	T	0.29	.	19.5444	0.95285	0.0:1.0:0.0:0.0	.	387;340	Q4LE79;P15924	.;DESP_HUMAN	E	340;340;145	ENSP00000369129:Q340E;ENSP00000396591:Q340E	ENSP00000369129:Q340E	Q	+	1	0	DSP	7511687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.721000	0.47260	2.683000	0.91414	0.655000	0.94253	CAG	DSP	-	smart_Spectrin/alpha-actinin		0.328	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7566688	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56443711	56443711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:56443711G>A	ENST00000361203.3	-	46	12302	c.12295C>T	c.(12295-12297)Cag>Tag	p.Q4099*	DST_ENST00000244364.6_Nonsense_Mutation_p.Q1687*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q3775*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2013*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q4099*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2013*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4101*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q4279*			Q03001	DYST_HUMAN	dystonin	4099					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAACCTGCTGACTTGATATC	0.383																																																	0													68.0	68.0	68.0					6																	56443711		1827	4082	5909	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12295C>T	6.37:g.56443711G>A	ENSP00000354508:p.Gln4099*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q4279*	ENST00000361203.3	37	c.12835		6	.	.	.	.	.	.	.	.	.	.	G	53	20.680448	0.99933	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	5.46	4.59	0.56863	.	0.150369	0.30492	N	0.009510	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	14.6237	0.68605	0.0714:0.0:0.9286:0.0	.	.	.	.	X	1687;4279;4101;2013;3775;4099;2013;4099	.	ENSP00000244364:Q1687X	Q	-	1	0	DST	56551670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.083000	0.71326	2.559000	0.86315	0.655000	0.94253	CAG	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56443711	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DUOX1	53905	genome.wustl.edu	37	15	45444103	45444103	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:45444103G>A	ENST00000321429.4	+	25	3453	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1016K|DUOX1_ENST00000561166.1_Missense_Mutation_p.E662K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1016	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTGTTCACTGAGGCGCACCG	0.597																																																	0													82.0	79.0	80.0					15																	45444103		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3046G>A	15.37:g.45444103G>A	ENSP00000317997:p.Glu1016Lys		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.E1016K	ENST00000321429.4	37	c.3046	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574480	0.45902	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85339	-1.97;-1.97	4.17	4.17	0.49024	.	0.306443	0.35525	N	0.003157	D	0.85461	0.5702	M	0.62723	1.935	0.41707	D	0.98943	B;B	0.30563	0.285;0.009	B;B	0.40134	0.32;0.012	D	0.83901	0.0290	10	0.33141	T	0.24	-29.578	14.3394	0.66614	0.0:0.0:1.0:0.0	.	149;1016	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	K	1016	ENSP00000317997:E1016K;ENSP00000373689:E1016K	ENSP00000317997:E1016K	E	+	1	0	DUOX1	43231395	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.188000	0.65093	2.302000	0.77476	0.655000	0.94253	GAG	DUOX1	-	NULL		0.597	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	G	NM_017434		45444103	+1	no_errors	ENST00000321429	ensembl	human	known	70_37	missense	SNP	0.998	A
DYNC2H1	79659	genome.wustl.edu	37	11	103128387	103128387	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:103128387C>G	ENST00000375735.2	+	69	10656	c.10512C>G	c.(10510-10512)ttC>ttG	p.F3504L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F3511L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3504					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATGTACTTCATTATTTCTG	0.423																																																	0													139.0	130.0	133.0					11																	103128387		1877	4103	5980	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10512C>G	11.37:g.103128387C>G	ENSP00000364887:p.Phe3504Leu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F3511L	ENST00000375735.2	37	c.10533	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207265	0.79127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.72051	-0.62;-0.62	6.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	H	0.95679	3.705	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.75020	0.945;0.985	D	0.89089	0.3481	10	0.87932	D	0	.	10.3471	0.43911	0.0:0.8389:0.0:0.1611	.	3504;3511	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	3504;3511	ENSP00000364887:F3504L;ENSP00000381167:F3511L	ENSP00000364887:F3504L	F	+	3	2	DYNC2H1	102633597	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.209000	0.32357	2.882000	0.98803	0.655000	0.94253	TTC	DYNC2H1	-	NULL		0.423	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103128387	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	G
DYTN	391475	genome.wustl.edu	37	2	207575289	207575289	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:207575289C>T	ENST00000452335.2	-	2	169	c.53G>A	c.(52-54)aGa>aAa	p.R18K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	18						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAAGGCTGTTCTATAAATGGA	0.323																																																	0													74.0	69.0	71.0					2																	207575289		1822	4083	5905	SO:0001583	missense	391475			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.53G>A	2.37:g.207575289C>T	ENSP00000396593:p.Arg18Lys			Missense_Mutation	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.R18K	ENST00000452335.2	37	c.53	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686148	0.68157	.	.	ENSG00000232125	ENST00000452335	D	0.82433	-1.61	4.49	2.72	0.32119	EF-hand domain, type 1 (1);	.	.	.	.	T	0.73908	0.3647	L	0.29908	0.895	0.30815	N	0.738377	P	0.42785	0.79	B	0.40228	0.323	T	0.73078	-0.4096	9	0.87932	D	0	-6.6034	9.9277	0.41503	0.0:0.8359:0.0:0.1641	.	18	A2CJ06	DYTN_HUMAN	K	18	ENSP00000396593:R18K	ENSP00000396593:R18K	R	-	2	0	DYTN	207283534	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.929000	0.48916	0.841000	0.35020	-0.119000	0.15052	AGA	DYTN	-	pfam_EF-hand_dom_typ1		0.323	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	C			207575289	-1	no_errors	ENST00000452335	ensembl	human	known	70_37	missense	SNP	1.000	T
EBF4	57593	genome.wustl.edu	37	20	2686378	2686378	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:2686378G>A	ENST00000609451.1	+	2	365	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	EBF4_ENST00000380648.4_Splice_Site_p.R94Q			Q9BQW3	COE4_HUMAN	early B-cell factor 4	98					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAAAAGGACCGAGTGAGAGGC	0.597																																																	0													90.0	90.0	90.0					20																	2686378		692	1591	2283	SO:0001630	splice_region_variant	57593			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.294+1G>A	20.37:g.2686378G>A			Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.R198Q	ENST00000609451.1	37	c.593		20	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091711	0.55968	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.40756	1.02;1.02	4.64	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.27241	0.0668	N	0.21545	0.675	0.37220	D	0.905191	B	0.17038	0.02	B	0.17098	0.017	T	0.16158	-1.0412	10	0.30854	T	0.27	-15.4849	9.146	0.36933	0.1014:0.0:0.8986:0.0	.	94	E9PEI2	.	Q	94;98	ENSP00000370022:R94Q;ENSP00000345030:R98Q	ENSP00000345030:R98Q	R	+	2	0	EBF4	2634378	0.990000	0.36364	1.000000	0.80357	0.988000	0.76386	2.523000	0.45580	2.301000	0.77427	0.485000	0.47835	CGA	EBF4	-	NULL		0.597	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	G	XM_938882	Missense_Mutation	2686378	+1	no_errors	ENST00000449079	ensembl	human	known	70_37	missense	SNP	1.000	A
CFAP57	149465	genome.wustl.edu	37	1	43637890	43637890	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:43637890C>T	ENST00000372492.4	+	0	71				EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000431635.2_Intron|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000236051.2_5'UTR	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCTTCAGCCCCCTACTCC	0.652																																																	0																																										SO:0001623	5_prime_UTR_variant	10969																														ENST00000372492.4:c.-254C>T	1.37:g.43637890C>T			A6NKQ3|Q17RI9|Q5TAI0	RNA	SNP	-	NULL	ENST00000372492.4	37	NULL		1																																																																																			EBNA1BP2	-	-		0.652	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	EBNA1BP2	HGNC	protein_coding	OTTHUMT00000384325.1	C			43637890	-1	no_errors	ENST00000472982	ensembl	human	known	70_37	rna	SNP	0.000	T
EEA1	8411	genome.wustl.edu	37	12	93213230	93213230	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:93213230G>A	ENST00000322349.8	-	14	1846	c.1582C>T	c.(1582-1584)Ctt>Ttt	p.L528F		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	528	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAAGCTTCAAGGTTCTGGATC	0.328																																																	0													54.0	54.0	54.0					12																	93213230		2202	4298	6500	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1582C>T	12.37:g.93213230G>A	ENSP00000317955:p.Leu528Phe		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.L528F	ENST00000322349.8	37	c.1582	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637473	0.87760	.	.	ENSG00000102189	ENST00000322349	T	0.52295	0.67	5.55	5.55	0.83447	.	0.000000	0.47455	D	0.000223	T	0.61388	0.2343	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.59123	-0.7513	10	0.44086	T	0.13	.	19.5055	0.95113	0.0:0.0:1.0:0.0	.	528	Q15075	EEA1_HUMAN	F	528	ENSP00000317955:L528F	ENSP00000317955:L528F	L	-	1	0	EEA1	91737361	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.871000	0.87180	2.624000	0.88883	0.460000	0.39030	CTT	EEA1	-	NULL		0.328	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	G	NM_003566		93213230	-1	no_errors	ENST00000322349	ensembl	human	known	70_37	missense	SNP	1.000	A
EFCAB5	374786	genome.wustl.edu	37	17	28380537	28380537	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:28380537C>T	ENST00000394835.3	+	10	1757	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	EFCAB5_ENST00000378738.3_Missense_Mutation_p.S522L|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S522L|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S466L|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S522L|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S179L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	522							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAAGAATTTCAATTGAAGAA	0.418																																																	0													84.0	82.0	83.0					17																	28380537		1971	4160	6131	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1565C>T	17.37:g.28380537C>T	ENSP00000378312:p.Ser522Leu		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.S522L	ENST00000394835.3	37	c.1565	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083032	0.36758	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.65	0.923	0.19413	.	0.838469	0.10093	N	0.716881	T	0.36608	0.0973	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B	0.18013	0.015;0.025;0.012;0.012;0.01;0.009	B;B;B;B;B;B	0.20184	0.012;0.028;0.016;0.016;0.009;0.013	T	0.28650	-1.0037	10	0.31617	T	0.26	-1.5682	6.6817	0.23123	0.0:0.5786:0.0:0.4214	.	466;466;522;522;522;522	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	L	466;265;179;522;522;522;522;466;328	ENSP00000440619:S466L;ENSP00000445575:S179L;ENSP00000378312:S522L;ENSP00000322003:S522L;ENSP00000378309:S522L;ENSP00000368012:S522L;ENSP00000417009:S328L	ENSP00000322003:S522L	S	+	2	0	EFCAB5	25404663	0.000000	0.05858	0.004000	0.12327	0.061000	0.15899	0.021000	0.13489	0.434000	0.26340	0.655000	0.94253	TCA	EFCAB5	-	NULL		0.418	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	C	NM_198529		28380537	+1	no_errors	ENST00000394835	ensembl	human	known	70_37	missense	SNP	0.001	T
EFCAB6	64800	genome.wustl.edu	37	22	43950824	43950824	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:43950824C>T	ENST00000262726.7	-	27	3826	c.3573G>A	c.(3571-3573)atG>atA	p.M1191I	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1039I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1191	EF-hand 13. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTTCGTTTTCATGGTGTCAA	0.522																																																	0													152.0	143.0	146.0					22																	43950824		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3573G>A	22.37:g.43950824C>T	ENSP00000262726:p.Met1191Ile		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M1191I	ENST00000262726.7	37	c.3573	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	2.802	-0.248888	0.05867	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07567	3.18;3.18	4.88	-3.49	0.04724	EF-hand-like domain (1);	1.108970	0.06696	N	0.770558	T	0.06826	0.0174	L	0.51422	1.61	0.09310	N	1	B;B	0.22480	0.07;0.007	B;B	0.21151	0.033;0.022	T	0.44922	-0.9296	10	0.30854	T	0.27	-1.6096	2.0823	0.03638	0.1416:0.2115:0.4186:0.2283	.	1039;1191	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	I	1039;1191	ENSP00000379533:M1039I;ENSP00000262726:M1191I	ENSP00000262726:M1191I	M	-	3	0	EFCAB6	42282157	0.001000	0.12720	0.040000	0.18447	0.049000	0.14656	-0.226000	0.09139	-0.082000	0.12640	-0.345000	0.07892	ATG	EFCAB6	-	smart_EF_hand_Ca-bd		0.522	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		43950824	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.000	T
EHD2	30846	genome.wustl.edu	37	19	48244575	48244575	+	Silent	SNP	C	C	T	rs111452024		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:48244575C>T	ENST00000263277.3	+	6	1769	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.F370F	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	506	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ATGAGGAGTTCGCGCTGGCCA	0.667																																																	0													40.0	33.0	35.0					19																	48244575		2203	4300	6503	SO:0001819	synonymous_variant	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1518C>T	19.37:g.48244575C>T			B2RDH9|B4DNU6|Q96CB6	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.F506	ENST00000263277.3	37	c.1518	CCDS12704.1	19																																																																																			EHD2	-	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology		0.667	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	C			48244575	+1	no_errors	ENST00000263277	ensembl	human	known	70_37	silent	SNP	0.998	T
EIF2AK2	5610	genome.wustl.edu	37	2	37334416	37334416	+	Nonstop_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:37334416C>G	ENST00000233057.4	-	17	1978	c.1656G>C	c.(1654-1656)taG>taC	p.*552Y	EIF2AK2_ENST00000405334.1_Nonstop_Mutation_p.*511Y|EIF2AK2_ENST00000395127.2_Nonstop_Mutation_p.*552Y	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	0					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CAGAAGGGCTCTAACATGTGT	0.353																																																	0													149.0	137.0	141.0					2																	37334416		2203	4300	6503	SO:0001578	stop_lost	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1656G>C	2.37:g.37334416C>G			A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Nonstop_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.*552Y	ENST00000233057.4	37	c.1656	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351506	0.41700	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	.	.	.	5.06	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1478	0.25593	0.0:0.7985:0.0:0.2015	.	.	.	.	Y	552;552;511	.	.	X	-	3	2	EIF2AK2	37187920	0.929000	0.31497	0.342000	0.25602	0.008000	0.06430	1.834000	0.39171	1.262000	0.44165	-0.251000	0.11542	TAG	EIF2AK2	-	NULL		0.353	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	C	NM_002759		37334416	-1	no_errors	ENST00000233057	ensembl	human	known	70_37	nonstop	SNP	0.634	G
EIF2B2	8892	genome.wustl.edu	37	14	75469825	75469825	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:75469825G>C	ENST00000266126.5	+	1	212	c.132G>C	c.(130-132)caG>caC	p.Q44H	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	44					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGCTGCGCCAGATCATCACGG	0.657																																																	0													27.0	29.0	28.0					14																	75469825		2203	4300	6503	SO:0001583	missense	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.132G>C	14.37:g.75469825G>C	ENSP00000266126:p.Gln44His		O43201	Missense_Mutation	SNP	pfam_IF-2B-related	p.Q44H	ENST00000266126.5	37	c.132	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335331	0.41398	.	.	ENSG00000119718	ENST00000266126	D	0.92545	-3.06	5.86	0.399	0.16325	.	0.156294	0.56097	N	0.000038	D	0.83390	0.5244	N	0.16098	0.37	0.24917	N	0.992007	B	0.02656	0.0	B	0.06405	0.002	T	0.68372	-0.5426	10	0.34782	T	0.22	-6.9571	14.6282	0.68638	0.0619:0.6076:0.3305:0.0	.	44	P49770	EI2BB_HUMAN	H	44	ENSP00000266126:Q44H	ENSP00000266126:Q44H	Q	+	3	2	EIF2B2	74539578	1.000000	0.71417	0.989000	0.46669	0.820000	0.46376	0.550000	0.23345	-0.122000	0.11766	-0.145000	0.13849	CAG	EIF2B2	-	pfam_IF-2B-related		0.657	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	G	NM_014239		75469825	+1	no_errors	ENST00000266126	ensembl	human	known	70_37	missense	SNP	0.997	C
EIF4G3	8672	genome.wustl.edu	37	1	21175937	21175937	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:21175937C>A	ENST00000264211.8	-	23	3885	c.3691G>T	c.(3691-3693)Gat>Tat	p.D1231Y	EIF4G3_ENST00000400422.1_Missense_Mutation_p.D1231Y|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D721Y|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D835Y|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D951Y|EIF4G3_ENST00000602326.1_Missense_Mutation_p.D1237Y|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D1237Y	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1231	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGAAATTCATCAATGATAGAT	0.353																																																	0													80.0	75.0	77.0					1																	21175937		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3691G>T	1.37:g.21175937C>A	ENSP00000264211:p.Asp1231Tyr		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.D1237Y	ENST00000264211.8	37	c.3709	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870825	0.91587	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.87	5.87	0.94306	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.097054	0.64402	D	0.000002	T	0.55689	0.1936	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.979;0.982;0.993;0.992	T	0.53479	-0.8433	10	0.72032	D	0.01	-16.5295	20.206	0.98277	0.0:1.0:0.0:0.0	.	1426;951;835;1237;1231	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	Y	1231;1427;1231;951;721;1237;835	ENSP00000264211:D1231Y;ENSP00000383274:D1231Y;ENSP00000364071:D951Y;ENSP00000442010:D721Y;ENSP00000364073:D1237Y;ENSP00000444693:D835Y	ENSP00000264211:D1231Y	D	-	1	0	EIF4G3	21048524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.208000	0.77907	2.785000	0.95823	0.655000	0.94253	GAT	EIF4G3	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.353	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760		21175937	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	missense	SNP	1.000	A
AGO4	192670	genome.wustl.edu	37	1	36282575	36282575	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:36282575C>A	ENST00000373210.3	+	2	357	c.112C>A	c.(112-114)Cag>Aag	p.Q38K		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	38					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TTTTCAGGTTCAGATTCCTAA	0.443																																																	0													122.0	123.0	122.0					1																	36282575		2203	4300	6503	SO:0001583	missense	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.112C>A	1.37:g.36282575C>A	ENSP00000362306:p.Gln38Lys		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q38K	ENST00000373210.3	37	c.112	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057742	0.36277	.	.	ENSG00000134698	ENST00000373210	T	0.08458	3.09	5.35	5.35	0.76521	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	N	0.05158	-0.105	0.58432	D	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.40213	-0.9575	10	0.08837	T	0.75	-10.4863	14.6463	0.68764	0.0:0.8548:0.1452:0.0	.	38	Q9HCK5	AGO4_HUMAN	K	38	ENSP00000362306:Q38K	ENSP00000362306:Q38K	Q	+	1	0	EIF2C4	36055162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.937000	0.40193	2.522000	0.85027	0.655000	0.94253	CAG	EIF2C4	-	superfamily_PAZ		0.443	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	C	NM_017629		36282575	+1	no_errors	ENST00000373210	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF5AL1	143244	genome.wustl.edu	37	10	81272814	81272814	+	Missense_Mutation	SNP	G	G	C	rs200388618		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:81272814G>C	ENST00000520547.2	+	1	458	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	137					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCTGATCACGGTGCTGTCTGC	0.567																																																	0								G	LEU/VAL	489,3911	214.8+/-234.0	38,413,1749	86.0	94.0	92.0		409	0.9	0.7	10	dbSNP_134	92	709,7885	166.4+/-218.3	23,663,3611	no	missense	EIF5AL1	NM_001099692.1	32	61,1076,5360	CC,CG,GG		8.2499,11.1136,9.2196	probably-damaging	137/155	81272814	1198,11796	2200	4297	6497	SO:0001583	missense	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 5A pseudogene 1"""	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.409G>C	10.37:g.81272814G>C	ENSP00000430706:p.Val137Leu			Missense_Mutation	SNP	pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	p.V137L	ENST00000520547.2	37	c.409	CCDS53546.1	10	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804487	0.50315	0.111136	0.082499	ENSG00000253626	ENST00000520547	T	0.61040	0.14	0.882	0.882	0.19172	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01661	0.0053	M	0.83384	2.64	0.29897	P	0.824741	P	0.36483	0.555	B	0.34991	0.193	T	0.29971	-0.9994	8	0.72032	D	0.01	.	5.1346	0.14928	0.0:0.0:1.0:0.0	.	137	Q6IS14	IF5AL_HUMAN	L	137	ENSP00000430706:V137L	ENSP00000430706:V137L	V	+	1	0	EIF5AL1	80942820	0.999000	0.42202	0.651000	0.29564	0.479000	0.33129	3.439000	0.52878	0.435000	0.26365	0.064000	0.15345	GTG	EIF5AL1	-	pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A		0.567	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5AL1	HGNC	protein_coding	OTTHUMT00000048954.4	G	NM_001099692		81272814	+1	no_errors	ENST00000520547	ensembl	human	known	70_37	missense	SNP	1.000	C
ELF3	1999	genome.wustl.edu	37	1	201984418	201984418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:201984418G>A	ENST00000359651.3	+	8	4275	c.1083G>A	c.(1081-1083)tgG>tgA	p.W361*	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W361*|ELF3_ENST00000367283.3_Nonsense_Mutation_p.W361*					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAAGCGGCTGGAAGGAGGAAG	0.557																																																	0													73.0	73.0	73.0					1																	201984418		2203	4300	6503	SO:0001587	stop_gained	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1083G>A	1.37:g.201984418G>A	ENSP00000352673:p.Trp361*			Nonsense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.W361*	ENST00000359651.3	37	c.1083	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.940774	0.97952	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	.	.	.	4.61	4.61	0.57282	.	0.255230	0.34291	N	0.004082	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4352	0.83873	0.0:0.0:1.0:0.0	.	.	.	.	X	361;361;361;338	.	ENSP00000311348:W338X	W	+	3	0	ELF3	200251041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.726000	0.84824	2.421000	0.82119	0.555000	0.69702	TGG	ELF3	-	NULL		0.557	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201984418	+1	no_errors	ENST00000359651	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ELK1	2002	genome.wustl.edu	37	X	47496289	47496289	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:47496289G>A	ENST00000247161.3	-	6	1325	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	ELK1_ENST00000376983.3_Missense_Mutation_p.S409F|ELK1_ENST00000592066.1_Missense_Mutation_p.S355F	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	409					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CACGCTGATAGAAGGGATGTG	0.617																																																	0													23.0	21.0	21.0					X																	47496289		2189	4265	6454	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.1226C>T	X.37:g.47496289G>A	ENSP00000247161:p.Ser409Phe		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S409F	ENST00000247161.3	37	c.1226	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407573	0.83340	.	.	ENSG00000126767	ENST00000247161;ENST00000542746;ENST00000376983	T;T	0.51071	0.72;0.72	5.19	5.19	0.71726	.	0.119337	0.64402	D	0.000020	T	0.57315	0.2045	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.59989	-0.7350	10	0.56958	D	0.05	.	15.075	0.72071	0.0:0.0:1.0:0.0	.	409	P19419	ELK1_HUMAN	F	409;102;409	ENSP00000247161:S409F;ENSP00000366182:S409F	ENSP00000247161:S409F	S	-	2	0	ELK1	47381233	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.097000	0.50251	2.146000	0.66826	0.513000	0.50165	TCT	ELK1	-	NULL		0.617	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	G	NM_005229		47496289	-1	no_errors	ENST00000247161	ensembl	human	known	70_37	missense	SNP	1.000	A
RP11-268J15.5	0	genome.wustl.edu	37	1	36793686	36793686	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:36793686C>T	ENST00000373137.2	+	2	702	c.252C>T	c.(250-252)ttC>ttT	p.F84F																								ttgactgcttctctgccctcc	0.527																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000373137.2:c.252C>T	1.37:g.36793686C>T				Silent	SNP	NULL	p.F84	ENST00000373137.2	37	c.252		1																																																																																			AL591845.1	-	NULL		0.527	RP11-268J15.5-001	NOVEL	basic|appris_principal	protein_coding	ENSG00000116883	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000468983.1	C			36793686	+1	no_errors	ENST00000373137	ensembl	human	known	70_37	silent	SNP	0.092	T
ADAMTS8	11095	genome.wustl.edu	37	11	130271838	130271838	+	IGR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:130271838C>G	ENST00000257359.6	-	0	4010					NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8						negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTCCCTTCCTCTGCTTCCTGT	0.597																																																	0																																										SO:0001628	intergenic_variant	0			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656		11.37:g.130271838C>G			Q9NZS0	RNA	SNP	-	NULL	ENST00000257359.6	37	NULL	CCDS41732.1	11																																																																																			RP11-121M22.1	-	-		0.597	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000175773	Clone_based_vega_gene	protein_coding	OTTHUMT00000385636.1	C	NM_007037		130271838	+1	no_errors	ENST00000318117	ensembl	human	known	70_37	rna	SNP	0.195	G
Unknown	0	genome.wustl.edu	37	GL000212.1	64362	64362	+	IGR	SNP	A	A	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrGL000212.1:64362A>G								None (None upstream) : None (None downstream)																							CATCGCTAACAAAGATGGAGT	0.612																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.64362A>G				Silent	SNP	NULL	p.T37		37	c.111		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.612					ENSG00000212857	Clone_based_ensembl_gene			A			64362	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	silent	SNP	NULL	G
LOC101926911	101926911	genome.wustl.edu	37	15	91579217	91579217	+	RNA	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:91579217C>G	ENST00000557804.1	+	0	1535																											AACAAGGACTCAAATTTTTCG	0.532																																																	0																																												0																															15.37:g.91579217C>G				RNA	SNP	-	NULL	ENST00000557804.1	37	NULL		15																																																																																			AC068831.10	-	-		0.532	AC068831.10-004	KNOWN	basic	antisense	ENSG00000214432	Clone_based_vega_gene	antisense	OTTHUMT00000418639.1	C			91579217	+1	no_errors	ENST00000557804	ensembl	human	known	70_37	rna	SNP	0.056	G
FAM19A5	25817	genome.wustl.edu	37	22	48940540	48940540	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:48940540C>T	ENST00000402357.1	+	1	245				CTA-299D3.8_ENST00000467207.1_Intron|CTA-299D3.8_ENST00000407505.3_Missense_Mutation_p.G90E	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGGTCTCAGTCCCCACTCCGG	0.582																																																	0																																										SO:0001627	intron_variant	0			AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.112+55024C>T	22.37:g.48940540C>T			A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	NULL	p.G90E	ENST00000402357.1	37	c.269	CCDS46728.1	22	.	.	.	.	.	.	.	.	.	.	C	8.168	0.791112	0.16258	.	.	ENSG00000219016	ENST00000407505	.	.	.	1.38	1.38	0.22167	.	.	.	.	.	T	0.39963	0.1098	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	5	0.87932	D	0	.	6.1588	0.20352	0.0:1.0:0.0:0.0	.	.	.	.	E	90	.	ENSP00000384340:G90E	G	-	2	0	CTA-299D3.8	47319204	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.179000	0.09768	1.067000	0.40740	0.436000	0.28706	GGA	CTA-299D3.8	-	NULL		0.582	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	ENSG00000219016	Clone_based_vega_gene	protein_coding	OTTHUMT00000317504.1	C	NM_015381		48940540	-1	no_errors	ENST00000407505	ensembl	human	putative	70_37	missense	SNP	0.002	T
AL356137.1	0	genome.wustl.edu	37	6	140981775	140981775	+	RNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:140981775G>C	ENST00000408409.1	-	0	75																											ggttggtgtagaagtaattgt	0.363																																																	0																																												0																															6.37:g.140981775G>C				RNA	SNP	-	NULL	ENST00000408409.1	37	NULL		6																																																																																			AL356137.1	-	-		0.363	AL356137.1-201	NOVEL	basic	miRNA	ENSG00000221336	Clone_based_ensembl_gene	miRNA		G			140981775	-1	no_errors	ENST00000408409	ensembl	human	novel	70_37	rna	SNP	0.002	C
ANKRD19P	138649	genome.wustl.edu	37	9	95645049	95645049	+	RNA	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:95645049C>G	ENST00000446878.1	+	0	0				ANKRD19P_ENST00000473204.1_RNA																							GATCCACCCTCACCATCGCCT	0.478																																																	0																																												0																															9.37:g.95645049C>G				RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			RP11-526D8.7	-	-		0.478	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	Clone_based_vega_gene	pseudogene	OTTHUMT00000316907.1	C			95645049	+1	no_errors	ENST00000411450	ensembl	human	known	70_37	rna	SNP	0.028	G
AC007952.5	0	genome.wustl.edu	37	17	18996795	18996795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:18996795G>T	ENST00000399091.1	+	2	351	c.85G>T	c.(85-87)Gag>Tag	p.E29*	AC007952.5_ENST00000443876.1_Nonsense_Mutation_p.E45*|AC007952.5_ENST00000428928.1_Nonsense_Mutation_p.E45*|AC007952.5_ENST00000399093.1_Nonsense_Mutation_p.E29*|RP11-160E2.19_ENST00000583141.1_lincRNA																							AGTGCTTGGTGAGGTTTGGTG	0.547																																																	0																																										SO:0001587	stop_gained	0																														ENST00000399091.1:c.85G>T	17.37:g.18996795G>T	ENSP00000382042:p.Glu29*			Nonsense_Mutation	SNP	NULL	p.E45*	ENST00000399091.1	37	c.133		17	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238220	0.58886	.	.	ENSG00000228157	ENST00000399091;ENST00000443876;ENST00000428928;ENST00000399093	.	.	.	1.6	0.489	0.16854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5087	0.16868	0.0:0.3859:0.6141:0.0	.	.	.	.	X	29;45;45;29	.	ENSP00000382042:E29X	E	+	1	0	AC007952.5	18937520	0.001000	0.12720	0.011000	0.14972	0.075000	0.17131	0.036000	0.13819	0.196000	0.20367	0.184000	0.17185	GAG	AC007952.5	-	NULL		0.547	AC007952.5-002	NOVEL	not_best_in_genome_evidence|basic|appris_candidate	protein_coding	ENSG00000228157	Clone_based_vega_gene	protein_coding	OTTHUMT00000132165.1	G			18996795	+1	no_errors	ENST00000428928	ensembl	human	known	70_37	nonsense	SNP	0.019	T
MRPL43	84545	genome.wustl.edu	37	10	102745327	102745327	+	Intron	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:102745327C>A	ENST00000318325.2	-	3	519				MRPL43_ENST00000370241.3_Intron|C10orf2_ENST00000370228.1_5'Flank|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000210633.3_3'UTR|C10orf2_ENST00000311916.2_5'Flank|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000493646.1_5'Flank	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGCCTGGGCTCAGCTCCTCCC	0.522																																																	0																																										SO:0001627	intron_variant	0			AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"""Mitochondrial ribosomal proteins / large subunits"""	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.465+1178G>T	10.37:g.102745327C>A			B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	RNA	SNP	-	NULL	ENST00000318325.2	37	NULL	CCDS7502.1	10																																																																																			RP11-108L7.4	-	-		0.522	MRPL43-002	KNOWN	basic|CCDS	protein_coding	ENSG00000236662	Clone_based_vega_gene	protein_coding	OTTHUMT00000049902.1	C			102745327	-1	no_errors	ENST00000447344	ensembl	human	putative	70_37	rna	SNP	0.986	A
BHMG1	388553	genome.wustl.edu	37	19	46238634	46238634	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:46238634G>A	ENST00000457052.2	+	2	416		c.e2-1																									CCTCTTTGCAGATGTTTGGTT	0.507																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000457052.2:c.0-1G>A	19.37:g.46238634G>A				Splice_Site	SNP	-	e1-1	ENST00000457052.2	37	c.1-1		19																																																																																			AC074212.3	-	-		0.507	AC074212.3-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000237452	Clone_based_vega_gene	protein_coding	OTTHUMT00000343318.3	G		Intron	46238634	+1	no_errors	ENST00000457052	ensembl	human	putative	70_37	splice_site	SNP	1.000	A
FCGR1A	2209	genome.wustl.edu	37	1	149754599	149754599	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:149754599G>C	ENST00000369168.4	+	2	85				RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|FCGR1A_ENST00000489479.1_Intron|HIST2H2BF_ENST00000545683.1_3'UTR	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)						antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTTGAGAAAGAGAAATAGAA	0.428																																																	0																																										SO:0001627	intron_variant	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.32-127G>C	1.37:g.149754599G>C			P12315|Q5QNW7|Q92495|Q92663	RNA	SNP	-	NULL	ENST00000369168.4	37	NULL	CCDS933.1	1																																																																																			RP11-196G18.21	-	-		0.428	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000242663	Clone_based_vega_gene	protein_coding	OTTHUMT00000033446.1	G	NM_000566		149754599	-1	no_errors	ENST00000420462	ensembl	human	putative	70_37	rna	SNP	0.000	C
RN7SL417P	107080636	genome.wustl.edu	37	15	84948780	84948780	+	RNA	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:84948780G>A	ENST00000408320.1	+	0	0				RN7SL417P_ENST00000459938.2_RNA																							GCCCCAGGAGGAAAGGGGGAC	0.532																																																	0																																												0																															15.37:g.84948780G>A				RNA	SNP	-	NULL	ENST00000408320.1	37	NULL		15																																																																																			Metazoa_SRP	-	-		0.532	AC136704.1-201	NOVEL	basic	miRNA	ENSG00000244056	RFAM	miRNA		G			84948780	+1	no_errors	ENST00000459938	ensembl	human	novel	70_37	rna	SNP	0.050	A
RAB1B	81876	genome.wustl.edu	37	11	66039436	66039436	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:66039436G>C	ENST00000311481.6	+	2	234				RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAAGATCTGGGAACCAGGGGT	0.577																																																	0																																										SO:0001627	intron_variant	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.87+96G>C	11.37:g.66039436G>C			A8K7S1	RNA	SNP	-	NULL	ENST00000311481.6	37	NULL	CCDS31613.1	11																																																																																			RP11-867G23.3	-	-		0.577	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245156	Clone_based_vega_gene	protein_coding	OTTHUMT00000391886.2	G	NM_030981		66039436	-1	no_errors	ENST00000501708	ensembl	human	known	70_37	rna	SNP	0.118	C
ELF3	1999	genome.wustl.edu	37	1	201984155	201984155	+	Intron	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:201984155G>T	ENST00000359651.3	+	8	4193				RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Intron|ELF3_ENST00000367283.3_Intron					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TGTAGGGAAAGAGCTTCTGCT	0.517																																																	0																																										SO:0001627	intron_variant	0			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1002-182G>T	1.37:g.201984155G>T				RNA	SNP	-	NULL	ENST00000359651.3	37	NULL	CCDS1419.1	1																																																																																			RP11-510N19.5	-	-		0.517	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000249007	Clone_based_vega_gene	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201984155	+1	no_errors	ENST00000504773	ensembl	human	putative	70_37	rna	SNP	0.000	T
THBS4	7060	genome.wustl.edu	37	5	79375955	79375955	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:79375955C>T	ENST00000350881.2	+	20	2874				THBS4_ENST00000504720.1_Intron|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Intron|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4						behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATTCTCCGTTCTGCATCCCAG	0.537																																																	0																																										SO:0001627	intron_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2684+55C>T	5.37:g.79375955C>T			B2R909|Q86TG2	RNA	SNP	-	NULL	ENST00000350881.2	37	NULL	CCDS4049.1	5																																																																																			CTD-2201I18.1	-	-		0.537	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249825	Clone_based_vega_gene	protein_coding	OTTHUMT00000226977.1	C			79375955	-1	no_errors	ENST00000503007	ensembl	human	known	70_37	rna	SNP	0.002	T
KMT2A	4297	genome.wustl.edu	37	11	118305488	118305488	+	5'Flank	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:118305488C>G	ENST00000389506.5	+	0	0				KMT2A_ENST00000354520.4_5'Flank|RP11-770J1.4_ENST00000532619.1_Missense_Mutation_p.Q111H|KMT2A_ENST00000534358.1_5'Flank			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGCAAACCATCTGGGCCCCAT	0.542																																																	0																																										SO:0001631	upstream_gene_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337		11.37:g.118305488C>G	Exception_encountered		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	NULL	p.Q111H	ENST00000389506.5	37	c.333	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443469	0.25987	.	.	ENSG00000255384	ENST00000532619	.	.	.	5.15	4.25	0.50352	.	.	.	.	.	T	0.73528	0.3598	.	.	.	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.81531	-0.0890	6	0.87932	D	0	.	9.4415	0.38670	0.0:0.9048:0.0:0.0952	.	111	Q9BRP9	YK016_HUMAN	H	111	.	ENSP00000435815:Q111H	Q	-	3	2	RP11-770J1.4	117810698	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.022000	0.41030	1.398000	0.46701	-0.136000	0.14681	CAG	RP11-770J1.4	-	NULL		0.542	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000255384	Clone_based_vega_gene	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118305488	-1	no_errors	ENST00000532619	ensembl	human	putative	70_37	missense	SNP	1.000	G
WHSC1L1	54904	genome.wustl.edu	37	8	38134046	38134046	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:38134046C>G	ENST00000317025.8	-	23	4385				RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATCATAGTTTCAAACATCACA	0.388			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													69.0	62.0	64.0					8																	38134046		1950	4149	6099	SO:0001627	intron_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3868-28G>C	8.37:g.38134046C>G			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	RNA	SNP	-	NULL	ENST00000317025.8	37	NULL	CCDS43729.1	8																																																																																			RP11-513D5.5	-	-		0.388	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255487	Clone_based_vega_gene	protein_coding	OTTHUMT00000381924.3	C	NM_023034		38134046	+1	no_errors	ENST00000529325	ensembl	human	known	70_37	rna	SNP	0.001	G
CTD-2026G22.1	0	genome.wustl.edu	37	11	49401207	49401207	+	RNA	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:49401207C>G	ENST00000529081.1	+	0	564																											GATGACCGGTCACATTACATG	0.333																																																	0																																												0																															11.37:g.49401207C>G				RNA	SNP	-	NULL	ENST00000529081.1	37	NULL		11																																																																																			CTD-2026G22.1	-	-		0.333	CTD-2026G22.1-002	KNOWN	basic	processed_transcript	ENSG00000255532	Clone_based_vega_gene	pseudogene	OTTHUMT00000391375.1	C			49401207	+1	no_errors	ENST00000529081	ensembl	human	known	70_37	rna	SNP	0.040	G
ITGA5	3678	genome.wustl.edu	37	12	54801257	54801257	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:54801257G>A	ENST00000293379.4	-	9	1168				RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						gcaggaagcagagtatgaata	0.468																																																	0																																										SO:0001627	intron_variant	0				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.906+175C>T	12.37:g.54801257G>A			Q96HA5	RNA	SNP	-	NULL	ENST00000293379.4	37	NULL	CCDS8880.1	12																																																																																			RP11-753H16.5	-	-		0.468	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258086	Clone_based_vega_gene	protein_coding	OTTHUMT00000406174.1	G			54801257	+1	no_errors	ENST00000552785	ensembl	human	known	70_37	rna	SNP	0.002	A
THSD4	79875	genome.wustl.edu	37	15	71479889	71479889	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:71479889G>C	ENST00000355327.3	+	4	233				RP11-673C5.2_ENST00000562634.2_RNA|RP11-673C5.2_ENST00000561571.1_RNA|RP11-673C5.2_ENST00000569258.1_RNA|THSD4_ENST00000261862.6_Intron|RP11-673C5.2_ENST00000564562.1_RNA|RP11-673C5.2_ENST00000566268.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4						elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATTCTCTCTGAGAAACTTAC	0.418																																																	0																																										SO:0001627	intron_variant	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.100-27485G>C	15.37:g.71479889G>C			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	RNA	SNP	-	NULL	ENST00000355327.3	37	NULL	CCDS10238.2	15																																																																																			RP11-673C5.2	-	-		0.418	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000259964	Clone_based_vega_gene	protein_coding	OTTHUMT00000257253.2	G	NM_024817		71479889	-1	no_errors	ENST00000562634	ensembl	human	known	70_37	rna	SNP	0.980	C
THSD4	79875	genome.wustl.edu	37	15	71479913	71479913	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:71479913G>A	ENST00000355327.3	+	4	233				RP11-673C5.2_ENST00000562634.2_RNA|RP11-673C5.2_ENST00000561571.1_RNA|RP11-673C5.2_ENST00000569258.1_RNA|THSD4_ENST00000261862.6_Intron|RP11-673C5.2_ENST00000564562.1_RNA|RP11-673C5.2_ENST00000566268.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4						elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAAAGGCAGTGACTTTGAAAG	0.433																																																	0																																										SO:0001627	intron_variant	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.100-27461G>A	15.37:g.71479913G>A			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	RNA	SNP	-	NULL	ENST00000355327.3	37	NULL	CCDS10238.2	15																																																																																			RP11-673C5.2	-	-		0.433	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000259964	Clone_based_vega_gene	protein_coding	OTTHUMT00000257253.2	G	NM_024817		71479913	-1	no_errors	ENST00000562634	ensembl	human	known	70_37	rna	SNP	1.000	A
THSD4	79875	genome.wustl.edu	37	15	71479919	71479919	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:71479919G>A	ENST00000355327.3	+	4	233				RP11-673C5.2_ENST00000562634.2_RNA|RP11-673C5.2_ENST00000561571.1_RNA|RP11-673C5.2_ENST00000569258.1_RNA|THSD4_ENST00000261862.6_Intron|RP11-673C5.2_ENST00000564562.1_RNA|RP11-673C5.2_ENST00000566268.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4						elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTGACTTTGAAAGGACCGT	0.438																																																	0																																										SO:0001627	intron_variant	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.100-27455G>A	15.37:g.71479919G>A			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	RNA	SNP	-	NULL	ENST00000355327.3	37	NULL	CCDS10238.2	15																																																																																			RP11-673C5.2	-	-		0.438	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000259964	Clone_based_vega_gene	protein_coding	OTTHUMT00000257253.2	G	NM_024817		71479919	-1	no_errors	ENST00000562634	ensembl	human	known	70_37	rna	SNP	1.000	A
HOMEZ	57594	genome.wustl.edu	37	14	23744826	23744826	+	Missense_Mutation	SNP	T	T	A	rs35076736|rs76331664|rs67447855	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:23744826T>A	ENST00000357460.5	-	2	1775	c.1611A>T	c.(1609-1611)gaA>gaT	p.E537D	HOMEZ_ENST00000431326.2_Missense_Mutation_p.E539D|HOMEZ_ENST00000561013.1_Missense_Mutation_p.E539D	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	537	Poly-Asp.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcatcttcctcctcct	0.483																																																	0													39.0	39.0	39.0					14																	23744826		2192	4262	6454	SO:0001583	missense	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1611A>T	14.37:g.23744826T>A	ENSP00000350049:p.Glu537Asp		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E539D	ENST00000357460.5	37	c.1617	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	T	0.034	-1.315721	0.01331	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.63744	-0.06;-0.06	.	.	.	Armadillo-like helical (1);	.	.	.	.	T	0.45478	0.1344	N	0.08118	0	0.09310	N	1	B;B	0.32829	0.386;0.267	B;B	0.42462	0.388;0.217	T	0.47812	-0.9088	7	0.87932	D	0	.	.	.	.	.	539;537	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	D	537;539	ENSP00000350049:E537D;ENSP00000406579:E539D	ENSP00000350049:E537D	E	-	3	2	HOMEZ	22814666	0.017000	0.18338	0.112000	0.21494	0.037000	0.13140	-2.594000	0.00896	0.319000	0.23209	0.314000	0.21332	GAA	RP11-124D2.6	-	NULL		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	T	NM_020834		23744826	-1	no_errors	ENST00000431326	ensembl	human	known	70_37	missense	SNP	0.151	A
HOMEZ	57594	genome.wustl.edu	37	14	23744829	23744829	+	Silent	SNP	C	C	T	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:23744829C>T	ENST00000357460.5	-	2	1772	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	HOMEZ_ENST00000431326.2_Silent_p.E538E|HOMEZ_ENST00000561013.1_Silent_p.E538E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcatcttcctcctcctcct	0.483													C|||	22	0.00439297	0.0045	0.0058	5008	,	,		18800	0.001		0.0099	False		,,,				2504	0.001																0													32.0	32.0	32.0					14																	23744829		2132	4146	6278	SO:0001819	synonymous_variant	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608G>A	14.37:g.23744829C>T			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E538	ENST00000357460.5	37	c.1614	CCDS45085.1	14																																																																																			RP11-124D2.6	-	NULL		0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	C	NM_020834		23744829	-1	no_errors	ENST00000431326	ensembl	human	known	70_37	silent	SNP	0.005	T
ARMC5	79798	genome.wustl.edu	37	16	31470702	31470702	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:31470702C>G	ENST00000268314.4	+	0	386				ARMC5_ENST00000457010.2_5'UTR|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_Intron	NM_001105247.1	NP_001098717.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTTCCGGGGTCGAGAACTACA	0.627																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000268314.4:c.-144C>G	16.37:g.31470702C>G			Q86WM9|Q9H7P8|Q9H925	RNA	SNP	-	NULL	ENST00000268314.4	37	NULL	CCDS45472.1	16																																																																																			RP11-452L6.5	-	-		0.627	ARMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260267	Clone_based_vega_gene	protein_coding		C	NM_024742		31470702	-1	no_errors	ENST00000564629	ensembl	human	known	70_37	rna	SNP	0.000	G
RP11-1000B6.3	0	genome.wustl.edu	37	15	32878265	32878265	+	lincRNA	SNP	A	A	G	rs79517917	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:32878265A>G	ENST00000564670.1	+	0	145																											TCATCGTGCAAAGACATGCCA	0.418													A|||	389	0.0776757	0.0098	0.147	5008	,	,		17869	0.003		0.2247	False		,,,				2504	0.046																0																																												0																															15.37:g.32878265A>G				RNA	SNP	-	NULL	ENST00000564670.1	37	NULL		15																																																																																			RP11-1000B6.3	-	-		0.418	RP11-1000B6.3-003	KNOWN	basic	lincRNA	ENSG00000261064	Clone_based_vega_gene	lincRNA	OTTHUMT00000429854.1	A			32878265	+1	no_errors	ENST00000564670	ensembl	human	known	70_37	rna	SNP	1.000	G
LASP1	3927	genome.wustl.edu	37	17	37077979	37077979	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:37077979C>G	ENST00000318008.6	+	0	4065				LASP1_ENST00000435347.3_3'UTR|RP1-56K13.3_ENST00000580121.1_RNA	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1						ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						ACAAGTGAATCTTTCTCCTGG	0.463			T	MLL	AML																																			Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.*2948C>G	17.37:g.37077979C>G			B4DGQ0|Q96ED2|Q96IG0	RNA	SNP	-	NULL	ENST00000318008.6	37	NULL	CCDS11331.1	17																																																																																			RP1-56K13.3	-	-		0.463	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265784	Clone_based_vega_gene	protein_coding	OTTHUMT00000256890.3	C	NM_006148		37077979	-1	no_errors	ENST00000580121	ensembl	human	known	70_37	rna	SNP	1.000	G
RP11-259G18.1	0	genome.wustl.edu	37	17	44344668	44344668	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:44344668C>T	ENST00000570002.2	+	0	266																											CTGGGGTTCCCAAACTGTTTT	0.617																																																	0																																												0																															17.37:g.44344668C>T				RNA	SNP	-	NULL	ENST00000570002.2	37	NULL		17																																																																																			RP11-259G18.1	-	-		0.617	RP11-259G18.1-002	KNOWN	basic	processed_transcript	ENSG00000261575	Clone_based_vega_gene	pseudogene	OTTHUMT00000431423.2	C			44344668	+1	no_errors	ENST00000570002	ensembl	human	known	70_37	rna	SNP	0.215	T
ZNF702P	79986	genome.wustl.edu	37	19	53513487	53513487	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:53513487G>C	ENST00000596769.1	+	0	1114																											tcctatgcctgatagagggaa	0.517																																																	0																																												0																															19.37:g.53513487G>C				RNA	SNP	-	NULL	ENST00000596769.1	37	NULL		19																																																																																			CTD-2620I22.3	-	-		0.517	CTD-2620I22.3-001	KNOWN	basic	lincRNA	ENSG00000267943	Clone_based_vega_gene	lincRNA	OTTHUMT00000463993.1	G			53513487	+1	no_errors	ENST00000596769	ensembl	human	known	70_37	rna	SNP	0.671	C
ZNF702P	79986	genome.wustl.edu	37	19	53514118	53514118	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:53514118C>T	ENST00000596769.1	+	0	1745																											acatcatcatcaaagggatgg	0.537																																																	0																																												0																															19.37:g.53514118C>T				RNA	SNP	-	NULL	ENST00000596769.1	37	NULL		19																																																																																			CTD-2620I22.3	-	-		0.537	CTD-2620I22.3-001	KNOWN	basic	lincRNA	ENSG00000267943	Clone_based_vega_gene	lincRNA	OTTHUMT00000463993.1	C			53514118	+1	no_errors	ENST00000596769	ensembl	human	known	70_37	rna	SNP	0.080	T
EP400NL	347918	genome.wustl.edu	37	12	132589042	132589042	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:132589042C>T	ENST00000376625.4	+	1	503	c.477C>T	c.(475-477)ttC>ttT	p.F159F	EP400NL_ENST00000361109.5_Intron|EP400NL_ENST00000443539.2_Intron|EP400NL_ENST00000392352.1_Intron|EP400NL_ENST00000389560.2_Silent_p.F90F			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	159										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CAGGGGACTTCGTGGATGCCA	0.667																																																	0													54.0	79.0	71.0					12																	132589042		640	1586	2226	SO:0001819	synonymous_variant	347918			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.477C>T	12.37:g.132589042C>T			A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Silent	SNP	NULL	p.F159	ENST00000376625.4	37	c.477		12																																																																																			EP400NL	-	NULL		0.667	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		C	NM_182613		132589042	+1	no_errors	ENST00000376625	ensembl	human	known	70_37	silent	SNP	0.999	T
EPSTI1	94240	genome.wustl.edu	37	13	43462600	43462600	+	IGR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:43462600G>C	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313624.7_3'UTR|EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.S340*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)											endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GAGGTCAGTTGATGAAGGCCA	0.368																																																	0													75.0	78.0	77.0					13																	43462600		2203	4300	6503	SO:0001628	intergenic_variant	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462600G>C			Q8IVC7|Q8NDQ7	Nonsense_Mutation	SNP	NULL	p.S340*	ENST00000398762.3	37	c.1019	CCDS9387.1	13	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318413	0.23994	.	.	ENSG00000133106	ENST00000313640	.	.	.	5.53	3.77	0.43336	.	0.496482	0.15692	N	0.249387	.	.	.	.	.	.	0.42273	D	0.992063	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.1724	7.903	0.29746	0.0865:0.162:0.7516:0.0	.	.	.	.	X	340	.	ENSP00000318982:S340X	S	-	2	0	EPSTI1	42360600	0.947000	0.32204	0.157000	0.22605	0.005000	0.04900	1.624000	0.37018	0.797000	0.33971	-0.176000	0.13171	TCA	EPSTI1	-	NULL		0.368	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	G	NM_001002264		43462600	-1	no_errors	ENST00000313640	ensembl	human	known	70_37	nonsense	SNP	0.586	C
ERBB2	2064	genome.wustl.edu	37	17	37866407	37866407	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:37866407G>A	ENST00000269571.5	+	6	871	c.712G>A	c.(712-714)Gag>Aag	p.E238K	ERBB2_ENST00000584450.1_Missense_Mutation_p.E238K|ERBB2_ENST00000578199.1_Missense_Mutation_p.E208K|ERBB2_ENST00000541774.1_Missense_Mutation_p.E223K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E208K|ERBB2_ENST00000406381.2_Missense_Mutation_p.E208K|ERBB2_ENST00000540042.1_Missense_Mutation_p.E208K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E208K|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	238					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGCTGCCATGAGCAGTGTGC	0.642		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													60.0	62.0	61.0					17																	37866407		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.712G>A	17.37:g.37866407G>A	ENSP00000269571:p.Glu238Lys		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E238K	ENST00000269571.5	37	c.712	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376036	0.61735	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.62	5.62	0.85841	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	D	0.84023	0.5381	L	0.43152	1.355	0.44771	D	0.997774	B;B;P;B	0.38020	0.305;0.178;0.615;0.328	B;B;B;B	0.42625	0.17;0.056;0.393;0.147	T	0.82178	-0.0586	9	0.33940	T	0.23	.	18.4263	0.90610	0.0:0.0:1.0:0.0	.	208;223;238;238	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	K	208;223;238;208;208	ENSP00000385185:E208K;ENSP00000446466:E223K;ENSP00000269571:E238K;ENSP00000443562:E208K;ENSP00000446382:E208K	ENSP00000269571:E238K	E	+	1	0	ERBB2	35119933	0.997000	0.39634	0.991000	0.47740	0.994000	0.84299	2.636000	0.46545	2.648000	0.89879	0.467000	0.42956	GAG	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.642	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37866407	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	A
ERBB2IP	55914	genome.wustl.edu	37	5	65342187	65342187	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:65342187G>A	ENST00000284037.5	+	18	1998	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E537K|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E533K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E537K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E537K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E537K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	537					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTAGACCTCAGAAAGTACTAC	0.299																																																	0													86.0	97.0	93.0					5																	65342187		2200	4299	6499	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1609G>A	5.37:g.65342187G>A	ENSP00000284037:p.Glu537Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E537K	ENST00000284037.5	37	c.1609	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079937	0.36662	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41	5.68	5.68	0.88126	.	0.175935	0.50627	D	0.000111	T	0.04318	0.0119	N	0.08118	0	0.54753	D	0.999982	B;B;B;B;P;B;B	0.34562	0.007;0.004;0.004;0.004;0.457;0.005;0.003	B;B;B;B;B;B;B	0.31390	0.014;0.011;0.011;0.003;0.129;0.014;0.005	T	0.57613	-0.7781	10	0.25106	T	0.35	.	17.9686	0.89106	0.0:0.0:1.0:0.0	.	537;537;537;533;537;537;537	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	537;537;537;537;537;537;533;537;537	ENSP00000284037:E537K;ENSP00000370330:E537K;ENSP00000370326:E537K;ENSP00000370323:E537K;ENSP00000370322:E537K;ENSP00000370325:E537K;ENSP00000422766:E533K;ENSP00000426632:E537K;ENSP00000422015:E537K	ENSP00000284037:E537K	E	+	1	0	ERBB2IP	65377943	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.991000	0.70602	2.683000	0.91414	0.655000	0.94253	GAA	ERBB2IP	-	NULL		0.299	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65342187	+1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	A
ERF	2077	genome.wustl.edu	37	19	42753654	42753654	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:42753654G>T	ENST00000222329.4	-	4	767	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.P129T	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	204					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGGGCGCGGGGATCCTCTCCC	0.697																																																	0													18.0	22.0	21.0					19																	42753654		2195	4292	6487	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.610C>A	19.37:g.42753654G>T	ENSP00000222329:p.Pro204Thr		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.P204T	ENST00000222329.4	37	c.610	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	G	0.309	-0.968891	0.02232	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.16897	3.31;2.31	4.63	3.6	0.41247	.	0.848600	0.09972	N	0.732108	T	0.09774	0.0240	N	0.08118	0	0.25366	N	0.988741	P	0.43477	0.808	B	0.41646	0.362	T	0.14309	-1.0477	10	0.16896	T	0.51	.	10.5731	0.45212	0.0947:0.0:0.9053:0.0	.	204	P50548	ERF_HUMAN	T	204;129	ENSP00000222329:P204T;ENSP00000388173:P129T	ENSP00000222329:P204T	P	-	1	0	ERF	47445494	1.000000	0.71417	0.991000	0.47740	0.023000	0.10783	6.450000	0.73477	1.324000	0.45282	0.655000	0.94253	CCC	ERF	-	NULL		0.697	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	G	NM_006494		42753654	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	missense	SNP	0.603	T
ERGIC1	57222	genome.wustl.edu	37	5	172324903	172324903	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:172324903C>T	ENST00000393784.3	+	3	294				ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Intron	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1						ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTAAACCATTCCTGATTCCTA	0.517																																																	0																																										SO:0001627	intron_variant	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.155+826C>T	5.37:g.172324903C>T			Q9H0L0|Q9H2J2|Q9ULN9	RNA	SNP	-	NULL	ENST00000393784.3	37	NULL	CCDS34292.1	5																																																																																			ERGIC1	-	-		0.517	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	C	NM_020462		172324903	+1	no_errors	ENST00000519860	ensembl	human	known	70_37	rna	SNP	0.000	T
ERGIC1	57222	genome.wustl.edu	37	5	172324910	172324910	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:172324910C>T	ENST00000393784.3	+	3	294				ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Intron	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1						ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTCCTGATTCCTAGAATTAT	0.512																																																	0																																										SO:0001627	intron_variant	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.155+833C>T	5.37:g.172324910C>T			Q9H0L0|Q9H2J2|Q9ULN9	RNA	SNP	-	NULL	ENST00000393784.3	37	NULL	CCDS34292.1	5																																																																																			ERGIC1	-	-		0.512	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	C	NM_020462		172324910	+1	no_errors	ENST00000519860	ensembl	human	known	70_37	rna	SNP	0.955	T
ESRRG	2104	genome.wustl.edu	37	1	216896629	216896629	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:216896629C>G	ENST00000408911.3	-	1	166	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000366937.1_5'UTR|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000493603.1_Intron|ESRRG_ENST00000391890.3_5'UTR|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000359162.2_Intron	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	5					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AGGCAAAGTTCTACCGAATCC	0.473																																																	0													110.0	109.0	109.0					1																	216896629		1893	4116	6009	SO:0001583	missense	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.13G>C	1.37:g.216896629C>G	ENSP00000386171:p.Glu5Gln		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E5Q	ENST00000408911.3	37	c.13	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451079	0.63290	.	.	ENSG00000196482	ENST00000408911	D	0.93189	-3.18	5.56	5.56	0.83823	.	1.097060	0.07119	U	0.843582	D	0.91209	0.7230	L	0.27053	0.805	0.80722	D	1	B	0.21452	0.056	B	0.23018	0.043	T	0.76369	-0.2984	10	0.62326	D	0.03	.	19.1202	0.93360	0.0:1.0:0.0:0.0	.	5	P62508	ERR3_HUMAN	Q	5	ENSP00000386171:E5Q	ENSP00000386171:E5Q	E	-	1	0	ESRRG	214963252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.080000	0.76837	2.615000	0.88500	0.591000	0.81541	GAA	ESRRG	-	NULL		0.473	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	C	NM_206595		216896629	-1	no_errors	ENST00000408911	ensembl	human	known	70_37	missense	SNP	1.000	G
EXOC6B	23233	genome.wustl.edu	37	2	72719498	72719498	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:72719498C>G	ENST00000272427.6	-	16	1744	c.1614G>C	c.(1612-1614)ctG>ctC	p.L538L	EXOC6B_ENST00000410104.1_Silent_p.L538L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	538					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GAGAGTTGCTCAGAGTCCTGG	0.423																																																	0													149.0	145.0	146.0					2																	72719498		1873	4110	5983	SO:0001819	synonymous_variant	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1614G>C	2.37:g.72719498C>G			B8ZZY3	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.L538	ENST00000272427.6	37	c.1614	CCDS46333.1	2																																																																																			EXOC6B	-	pfam_Sec15,pirsf_Sec15		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	C	XM_039570		72719498	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	silent	SNP	0.992	G
EZH2	2146	genome.wustl.edu	37	7	148513787	148513787	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:148513787C>T	ENST00000460911.1	-	12	1567	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	EZH2_ENST00000478654.1_Silent_p.K484K|EZH2_ENST00000483967.1_Silent_p.K484K|EZH2_ENST00000476773.1_Silent_p.K484K|EZH2_ENST00000320356.2_Silent_p.K498K|EZH2_ENST00000541220.1_Silent_p.K484K|EZH2_ENST00000350995.2_Silent_p.K454K			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	493	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GGTGTTTCCTCTTCTTTTTCC	0.473			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													103.0	89.0	94.0					7																	148513787		2203	4300	6503	SO:0001819	synonymous_variant	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1479G>A	7.37:g.148513787C>T			B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.K498	ENST00000460911.1	37	c.1494	CCDS56516.1	7																																																																																			EZH2	-	NULL		0.473	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	C	NM_004456		148513787	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	silent	SNP	0.945	T
FAAH	2166	genome.wustl.edu	37	1	46877860	46877860	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:46877860G>T	ENST00000243167.8	+	13	1486	c.1402G>T	c.(1402-1404)Gat>Tat	p.D468Y		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	468					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCTGGACCTGGATGTGGTGCT	0.632																																																	0													96.0	92.0	93.0					1																	46877860		2188	4280	6468	SO:0001583	missense	2166			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1402G>T	1.37:g.46877860G>T	ENSP00000243167:p.Asp468Tyr		D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.D468Y	ENST00000243167.8	37	c.1402	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488639	0.84854	.	.	ENSG00000117480	ENST00000243167	T	0.77877	-1.13	4.86	4.86	0.63082	Amidase signature domain (2);	0.000000	0.85682	D	0.000000	D	0.92335	0.7568	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94850	0.8013	10	0.87932	D	0	-31.8176	18.176	0.89761	0.0:0.0:1.0:0.0	.	468	O00519	FAAH1_HUMAN	Y	468	ENSP00000243167:D468Y	ENSP00000243167:D468Y	D	+	1	0	FAAH	46650447	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	8.476000	0.90421	2.529000	0.85273	0.655000	0.94253	GAT	FAAH	-	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun		0.632	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	G	NM_001441		46877860	+1	no_errors	ENST00000243167	ensembl	human	known	70_37	missense	SNP	1.000	T
FADS6	283985	genome.wustl.edu	37	17	72878727	72878727	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:72878727G>A	ENST00000310226.6	-	3	485	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	163					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CATAGCGGTTGAGGCAAGGCA	0.622																																																	0													99.0	109.0	105.0					17																	72878727		2192	4282	6474	SO:0001819	synonymous_variant	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.471C>T	17.37:g.72878727G>A			Q17RQ7|Q6XYE1	Silent	SNP	pfam_Fatty_acid_desaturase-1	p.L157	ENST00000310226.6	37	c.471	CCDS54163.1	17	.	.	.	.	.	.	.	.	.	.	G	4.326	0.059847	0.08339	.	.	ENSG00000172782	ENST00000413142	.	.	.	5.15	4.11	0.48088	.	.	.	.	.	T	0.58524	0.2128	.	.	.	0.80722	D	1	P	0.48162	0.906	P	0.49999	0.628	T	0.57075	-0.7873	6	.	.	.	-51.0371	9.8104	0.40820	0.0:0.2148:0.668:0.1172	.	74	B4DEP0	.	L	74	.	.	S	-	2	0	FADS6	70390322	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	1.950000	0.40323	2.393000	0.81446	0.655000	0.94253	TCA	FADS6	-	pfam_Fatty_acid_desaturase-1		0.622	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	G			72878727	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	silent	SNP	1.000	A
FAM111A	63901	genome.wustl.edu	37	11	58920435	58920435	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:58920435G>C	ENST00000528737.1	+	5	4112	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	FAM111A_ENST00000361723.3_Missense_Mutation_p.E432Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E432Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.E432Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.E432Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	432	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACCTTGGTTTGAGATACATAA	0.373																																																	0													98.0	100.0	99.0					11																	58920435		2201	4295	6496	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1294G>C	11.37:g.58920435G>C	ENSP00000434435:p.Glu432Gln		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.E432Q	ENST00000528737.1	37	c.1294	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538933	0.45176	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.81	3.86	0.44501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.372648	0.28296	N	0.015871	D	0.92974	0.7764	M	0.74881	2.28	0.31383	N	0.678801	D	0.71674	0.998	D	0.69479	0.964	D	0.91311	0.5074	10	0.27785	T	0.31	-13.1528	14.0952	0.65016	0.0:0.2869:0.7131:0.0	.	432	Q96PZ2	F111A_HUMAN	Q	432	ENSP00000434435:E432Q;ENSP00000406683:E432Q;ENSP00000355264:E432Q;ENSP00000433154:E432Q;ENSP00000431631:E432Q	ENSP00000355264:E432Q	E	+	1	0	FAM111A	58677011	0.010000	0.17322	0.964000	0.40570	0.101000	0.19017	-0.093000	0.11111	0.844000	0.35094	0.655000	0.94253	GAG	FAM111A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like		0.373	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	G	NM_022074		58920435	+1	no_errors	ENST00000361723	ensembl	human	known	70_37	missense	SNP	0.998	C
FAM117A	81558	genome.wustl.edu	37	17	47795077	47795077	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:47795077C>T	ENST00000240364.2	-	6	788		c.e6-1		RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_Splice_Site|FAM117A_ENST00000513602.1_Splice_Site	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A											haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TATCAAGGATCTAACGGGGAA	0.577																																																	0													52.0	52.0	52.0					17																	47795077		2203	4300	6503	SO:0001630	splice_region_variant	81558			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.709-1G>A	17.37:g.47795077C>T			B7Z7Q3	Splice_Site	SNP	-	e6-1	ENST00000240364.2	37	c.709-1	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482146	0.26598	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8157	0.70034	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM117A	45150076	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.905000	0.69893	2.473000	0.83533	0.561000	0.74099	.	FAM117A	-	-		0.577	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	C	NM_030802	Intron	47795077	-1	no_errors	ENST00000240364	ensembl	human	known	70_37	splice_site	SNP	1.000	T
MVB12B	89853	genome.wustl.edu	37	9	129269251	129269251	+	3'UTR	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:129269251G>T	ENST00000361171.3	+	0	4750				MVB12B_ENST00000485886.1_3'UTR	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B						protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTTGGCAAGGGAAGTCCACTG	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	89853			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.*3709G>T	9.37:g.129269251G>T			Q8N6S7	RNA	SNP	-	NULL	ENST00000361171.3	37	NULL	CCDS35142.1	9																																																																																			FAM125B	-	-		0.453	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM125B	HGNC	protein_coding	OTTHUMT00000054110.1	G	XM_088525		129269251	+1	no_errors	ENST00000485886	ensembl	human	known	70_37	rna	SNP	1.000	T
FAM149A	25854	genome.wustl.edu	37	4	187073141	187073141	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:187073141C>G	ENST00000356371.5	+	4	901	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	FAM149A_ENST00000502970.1_Missense_Mutation_p.Q10E|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.Q10E|FAM149A_ENST00000514153.1_Missense_Mutation_p.Q10E|FAM149A_ENST00000389354.5_Missense_Mutation_p.Q10E|FAM149A_ENST00000503432.1_Missense_Mutation_p.Q10E			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	301										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGTGAACCCTCAGACCCAGAG	0.517																																																	0													132.0	115.0	121.0					4																	187073141		2203	4300	6503	SO:0001583	missense	25854			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.901C>G	4.37:g.187073141C>G	ENSP00000348732:p.Gln301Glu		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.Q301E	ENST00000356371.5	37	c.901		4	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303489	0.60195	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000504330;ENST00000510790;ENST00000509574;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.54431	0.1858	M	0.74881	2.28	0.38666	D	0.952185	B;P;P	0.42296	0.141;0.536;0.775	B;B;B	0.43658	0.067;0.145;0.426	T	0.57154	-0.7860	10	0.33940	T	0.23	-12.4561	16.1747	0.81844	0.0:0.8667:0.1333:0.0	.	301;301;10	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	E	10;301;10;10;10;10;10;10;10	ENSP00000426835:Q10E;ENSP00000348732:Q301E;ENSP00000422330:Q10E;ENSP00000421713:Q10E;ENSP00000421136:Q10E;ENSP00000227065:Q10E;ENSP00000427155:Q10E;ENSP00000424380:Q10E;ENSP00000374005:Q10E	ENSP00000227065:Q10E	Q	+	1	0	FAM149A	187310135	0.964000	0.33143	0.992000	0.48379	0.537000	0.34900	2.070000	0.41491	2.802000	0.96397	0.650000	0.86243	CAG	FAM149A	-	pfam_DUF3719		0.517	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		C	NM_001006655		187073141	+1	no_errors	ENST00000356371	ensembl	human	known	70_37	missense	SNP	0.993	G
FAM160A2	84067	genome.wustl.edu	37	11	6232577	6232577	+	3'UTR	SNP	G	G	C	rs553286788		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:6232577G>C	ENST00000449352.2	-	0	3341				FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_3'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACAGAATAGAGATTTCCCT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18447	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.*159C>G	11.37:g.6232577G>C			Q9C0A4|Q9H0N3|Q9H624	RNA	SNP	-	NULL	ENST00000449352.2	37	NULL	CCDS44530.1	11																																																																																			FAM160A2	-	-		0.378	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	G	NM_032127		6232577	-1	no_errors	ENST00000529360	ensembl	human	putative	70_37	rna	SNP	1.000	C
FAM174A	345757	genome.wustl.edu	37	5	99871472	99871472	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:99871472G>A	ENST00000312637.4	+	1	464	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	80						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCGGGGCTCCGAGGGAGGCAA	0.716																																																	0													10.0	14.0	12.0					5																	99871472		2186	4279	6465	SO:0001583	missense	345757			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.238G>A	5.37:g.99871472G>A	ENSP00000307954:p.Glu80Lys		A8K0H4	Missense_Mutation	SNP	pfam_DUF1180	p.E80K	ENST00000312637.4	37	c.238	CCDS4090.1	5	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211359	0.58343	.	.	ENSG00000174132	ENST00000312637	T	0.46451	0.87	4.4	4.4	0.53042	.	0.984595	0.08270	N	0.971669	T	0.44477	0.1295	L	0.51422	1.61	0.09310	N	1	P	0.51791	0.948	P	0.45195	0.473	T	0.32981	-0.9886	9	.	.	.	-6.9415	12.6504	0.56757	0.0:0.0:1.0:0.0	.	80	Q8TBP5	F174A_HUMAN	K	80	ENSP00000307954:E80K	.	E	+	1	0	FAM174A	99899371	0.010000	0.17322	0.006000	0.13384	0.146000	0.21551	1.311000	0.33562	2.433000	0.82419	0.557000	0.71058	GAG	FAM174A	-	pfam_DUF1180		0.716	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	HGNC	protein_coding	OTTHUMT00000250631.2	G	NM_198507		99871472	+1	no_errors	ENST00000312637	ensembl	human	known	70_37	missense	SNP	0.009	A
FAM182B	728882	genome.wustl.edu	37	20	25848857	25848857	+	5'Flank	SNP	C	C	G	rs377489796		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:25848857C>G	ENST00000478164.1	-	0	0				FAM182B_ENST00000376404.2_5'Flank			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						gcccgcgcctcgcgcatgcgc	0.607																																																	0																																										SO:0001631	upstream_gene_variant	728882					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136		20.37:g.25848857C>G	Exception_encountered		Q4G0Q1	RNA	SNP	-	NULL	ENST00000478164.1	37	NULL		20																																																																																			FAM182B	-	-		0.607	FAM182B-005	KNOWN	basic	processed_transcript	FAM182B	HGNC	protein_coding	OTTHUMT00000316665.1	C	NR_026714		25848857	-1	no_errors	ENST00000582267	ensembl	human	known	70_37	rna	SNP	0.002	G
FAM186A	121006	genome.wustl.edu	37	12	50745835	50745835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:50745835G>A	ENST00000327337.5	-	4	4779	c.4780C>T	c.(4780-4782)Cag>Tag	p.Q1594*	FAM186A_ENST00000543111.1_Nonsense_Mutation_p.Q1594*|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1594																	TGCGCCTGCTGAGGGGTGAGA	0.662																																					NSCLC(138;1796 1887 12511 19463 37884)												0													4.0	5.0	5.0					12																	50745835		672	1542	2214	SO:0001587	stop_gained	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4780C>T	12.37:g.50745835G>A	ENSP00000329995:p.Gln1594*			Nonsense_Mutation	SNP	NULL	p.Q1594*	ENST00000327337.5	37	c.4780	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.389688	0.97529	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	.	.	.	4.0	-8.0	0.01126	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.1401	0.14954	0.1185:0.4829:0.1851:0.2134	.	.	.	.	X	1594	.	ENSP00000329995:Q1594X	Q	-	1	0	FAM186A	49032102	0.010000	0.17322	0.000000	0.03702	0.003000	0.03518	1.289000	0.33307	-4.861000	0.00029	-1.685000	0.00733	CAG	FAM186A	-	NULL		0.662	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	G	XM_001718353		50745835	-1	no_errors	ENST00000327337	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FAM188B2	646951	genome.wustl.edu	37	3	150591062	150591062	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:150591062G>A	ENST00000397891.3	-	8	839	c.840C>T	c.(838-840)ctC>ctT	p.L280L	CLRN1-AS1_ENST00000476886.1_RNA			A8MYZ0	F1882_HUMAN	family with sequence similarity 188, member B2	284																	AGTCTGATAAGAGCTGCCTGT	0.433																																																	0																																										SO:0001819	synonymous_variant	646951					3q25.1	2009-07-14	2009-07-14	2009-07-14		ENSG00000214237			35475	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 76"""	C3orf76			Standard			Approved			A8MYZ0		ENST00000397891.3:c.840C>T	3.37:g.150591062G>A				Silent	SNP	NULL	p.L280	ENST00000397891.3	37	c.840		3																																																																																			FAM188B2	-	NULL		0.433	FAM188B2-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM188B2	HGNC	protein_coding		G	XM_001717355		150591062	-1	no_errors	ENST00000397891	ensembl	human	known	70_37	silent	SNP	0.998	A
ERICH6B	220081	genome.wustl.edu	37	13	46161347	46161347	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:46161347G>C	ENST00000298738.2	-	5	871	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		236										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						GGTCACCTGAGAGGGGCCAGC	0.547																																																	0													35.0	37.0	36.0					13																	46161347		692	1591	2283	SO:0001583	missense	220081																														ENST00000298738.2:c.707C>G	13.37:g.46161347G>C	ENSP00000298738:p.Ser236Cys		Q96MB5	Missense_Mutation	SNP	NULL	p.S236C	ENST00000298738.2	37	c.707	CCDS45045.1	13	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865290	0.32977	.	.	ENSG00000165837	ENST00000298738	T	0.09538	2.97	4.15	2.42	0.29668	.	.	.	.	.	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.947	T	0.16958	-1.0385	9	0.87932	D	0	-0.1497	6.1704	0.20414	0.222:0.0:0.778:0.0	.	236;236	A2VDI6;Q5W0A0	.;F194B_HUMAN	C	236	ENSP00000298738:S236C	ENSP00000298738:S236C	S	-	2	0	FAM194B	45059348	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.307000	0.08167	0.716000	0.32124	0.655000	0.94253	TCT	FAM194B	-	NULL		0.547	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194B	HGNC	protein_coding	OTTHUMT00000044781.3	G			46161347	-1	no_errors	ENST00000298738	ensembl	human	known	70_37	missense	SNP	0.002	C
FAM200B	285550	genome.wustl.edu	37	4	15690878	15690878	+	IGR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:15690878G>C	ENST00000422728.2	+	0	2962				FAM200B_ENST00000504137.1_3'UTR	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B								nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						ataatatttagaagctattaa	0.373																																																	0																																										SO:0001628	intergenic_variant	285550			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279		4.37:g.15690878G>C				RNA	SNP	-	NULL	ENST00000422728.2	37	NULL	CCDS47028.1	4																																																																																			FAM200B	-	-		0.373	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	G	NM_001145191		15690878	+1	no_errors	ENST00000504137	ensembl	human	known	70_37	rna	SNP	0.000	C
FAM210B	116151	genome.wustl.edu	37	20	54941154	54941154	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:54941154G>A	ENST00000371384.3	+	3	481	c.390G>A	c.(388-390)ctG>ctA	p.L130L		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	130	DUF1279.					integral component of membrane (GO:0016021)											CAATCCTGCTGAAACTCGGAT	0.448																																																	0													70.0	68.0	69.0					20																	54941154		2203	4300	6503	SO:0001819	synonymous_variant	116151			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.390G>A	20.37:g.54941154G>A			B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Silent	SNP	pfam_DUF1279	p.L130	ENST00000371384.3	37	c.390	CCDS13450.1	20																																																																																			FAM210B	-	pfam_DUF1279		0.448	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM210B	HGNC	protein_coding	OTTHUMT00000079800.2	G	NM_080821		54941154	+1	no_errors	ENST00000371384	ensembl	human	known	70_37	silent	SNP	0.734	A
FAM214A	56204	genome.wustl.edu	37	15	52877050	52877050	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:52877050C>T	ENST00000261844.7	-	12	3121	c.2969G>A	c.(2968-2970)cGa>cAa	p.R990Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.R997Q|RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	990																	AGTTCTTTGTCGTAGGAATGT	0.358																																																	0													134.0	129.0	130.0					15																	52877050		1862	4094	5956	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2969G>A	15.37:g.52877050C>T	ENSP00000261844:p.Arg990Gln		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.R990Q	ENST00000261844.7	37	c.2969	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.378783	0.95945	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.74209	-0.81;-0.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90821	0.4709	10	0.87932	D	0	.	18.8547	0.92247	0.0:1.0:0.0:0.0	.	997;990	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	990;990;997	ENSP00000261844:R990Q;ENSP00000443598:R997Q	ENSP00000261844:R990Q	R	-	2	0	KIAA1370	50664342	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.445000	0.80570	2.526000	0.85167	0.467000	0.42956	CGA	FAM214A	-	NULL		0.358	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52877050	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	1.000	T
NUTM2G	441457	genome.wustl.edu	37	9	99700769	99700769	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:99700769G>C	ENST00000372322.3	+	7	1585	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	522																	AGCAGCGAGAGAGGTCCCTGA	0.637																																																	0													7.0	20.0	16.0					9																	99700769		416	1122	1538	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1564G>C	9.37:g.99700769G>C	ENSP00000361397:p.Glu522Gln		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.E522Q	ENST00000372322.3	37	c.1564	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	0.767	-0.767217	0.02974	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.12255	2.7	1.01	-0.0926	0.13656	.	0.729515	0.12227	N	0.487832	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.41360	-0.9513	8	0.26408	T	0.33	.	5.0068	0.14291	0.0:0.4595:0.5405:0.0	.	.	.	.	Q	522;371;403	ENSP00000361397:E522Q	ENSP00000361397:E522Q	E	+	1	0	FAM22G	98740590	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.191000	0.09601	-0.018000	0.14079	0.473000	0.43528	GAG	FAM22G	-	NULL		0.637	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	G	NM_001170741		99700769	+1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.001	C
NUTM2G	441457	genome.wustl.edu	37	9	99700851	99700851	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:99700851G>C	ENST00000372322.3	+	7	1667	c.1646G>C	c.(1645-1647)aGa>aCa	p.R549T	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	549																	GGACAGGGCAGAGTGCGCACT	0.652																																																	0													46.0	60.0	56.0					9																	99700851		692	1591	2283	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1646G>C	9.37:g.99700851G>C	ENSP00000361397:p.Arg549Thr		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.R549T	ENST00000372322.3	37	c.1646	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	2.684	-0.274652	0.05679	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.12984	2.63	1.01	-1.64	0.08318	.	1.489780	0.04137	N	0.318864	T	0.17152	0.0412	M	0.70275	2.135	0.09310	N	1	.	.	.	.	.	.	T	0.26815	-1.0092	8	0.23891	T	0.37	.	2.4685	0.04559	0.2493:0.3209:0.4298:0.0	.	.	.	.	T	549;398;430	ENSP00000361397:R549T	ENSP00000361397:R549T	R	+	2	0	FAM22G	98740672	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.086000	0.01361	-0.503000	0.06586	0.473000	0.43528	AGA	FAM22G	-	NULL		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	G	NM_001170741		99700851	+1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.000	C
FAM46B	115572	genome.wustl.edu	37	1	27332978	27332978	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27332978G>A	ENST00000289166.5	-	2	900	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	245										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TTTCGCCTGTGACCGTTGGGT	0.612																																																	0													55.0	59.0	57.0					1																	27332978		2203	4300	6503	SO:0001819	synonymous_variant	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.735C>T	1.37:g.27332978G>A				Silent	SNP	pfam_DUF1693	p.V245	ENST00000289166.5	37	c.735	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693		0.612	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	G	NM_052943		27332978	-1	no_errors	ENST00000289166	ensembl	human	known	70_37	silent	SNP	0.221	A
FAP	2191	genome.wustl.edu	37	2	163031423	163031423	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:163031423G>A	ENST00000188790.4	-	22	2130	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	FAP_ENST00000443424.1_Silent_p.F616F|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACCACATTTGAAAAGACCAG	0.403																																																	0													121.0	107.0	111.0					2																	163031423		2203	4300	6503	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1923C>T	2.37:g.163031423G>A				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.F641	ENST00000188790.4	37	c.1923	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9		0.403	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163031423	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	silent	SNP	1.000	A
FAP	2191	genome.wustl.edu	37	2	163045640	163045640	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:163045640G>A	ENST00000188790.4	-	19	1799	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	FAP_ENST00000443424.1_Missense_Mutation_p.S506L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATACTTCTTTGATCTGTCAAA	0.294																																																	0													73.0	76.0	75.0					2																	163045640		2203	4292	6495	SO:0001583	missense	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1592C>T	2.37:g.163045640G>A	ENSP00000188790:p.Ser531Leu			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S531L	ENST00000188790.4	37	c.1592	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087995	0.76642	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.47528	0.84;0.84	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.90082	3.085	0.58432	D	0.999997	P;P;D	0.60575	0.935;0.795;0.988	P;B;P	0.56088	0.598;0.277;0.791	T	0.77600	-0.2527	10	0.66056	D	0.02	-6.9702	17.3855	0.87414	0.0:0.0:1.0:0.0	.	506;10;531	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	L	531;506	ENSP00000188790:S531L;ENSP00000411391:S506L	ENSP00000188790:S531L	S	-	2	0	FAP	162753886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.164000	0.89661	2.537000	0.85549	0.650000	0.86243	TCA	FAP	-	NULL		0.294	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163045640	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	missense	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92624271	92624271	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:92624271C>G	ENST00000298047.6	+	27	13779	c.13762C>G	c.(13762-13764)Caa>Gaa	p.Q4588E	FAT3_ENST00000525166.1_Missense_Mutation_p.Q4438E|FAT3_ENST00000409404.2_Missense_Mutation_p.Q4556E|FAT3_ENST00000533797.1_Missense_Mutation_p.Q891E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4588					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCAGACTCAAGTGTAGAC	0.507										TCGA Ovarian(4;0.039)																																							0													44.0	46.0	45.0					11																	92624271		2080	4204	6284	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13762C>G	11.37:g.92624271C>G	ENSP00000298047:p.Gln4588Glu		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q4588E	ENST00000298047.6	37	c.13762		11	.	.	.	.	.	.	.	.	.	.	C	1.325	-0.598265	0.03744	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.83075	-0.28;-0.47;-0.31;-1.68	5.73	5.73	0.89815	.	.	.	.	.	T	0.71685	0.3369	N	0.12746	0.255	0.80722	D	1	B;B	0.19200	0.0;0.034	B;B	0.28465	0.0;0.09	T	0.66488	-0.5911	9	0.06891	T	0.86	.	19.8991	0.96978	0.0:1.0:0.0:0.0	.	4556;4588	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	E	4588;4556;4438;891	ENSP00000298047:Q4588E;ENSP00000387040:Q4556E;ENSP00000432586:Q4438E;ENSP00000436399:Q891E	ENSP00000298047:Q4588E	Q	+	1	0	FAT3	92263919	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	2.684000	0.46951	2.708000	0.92522	0.655000	0.94253	CAA	FAT3	-	NULL		0.507	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92624271	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXL3	26224	genome.wustl.edu	37	13	77581724	77581724	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:77581724G>A	ENST00000355619.5	-	5	1167	c.843C>T	c.(841-843)atC>atT	p.I281I	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	281					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GTGAATGTCTGATGAAAGCAT	0.388																																																	0													99.0	96.0	97.0					13																	77581724		2203	4300	6503	SO:0001819	synonymous_variant	26224			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.843C>T	13.37:g.77581724G>A			B2RB04|Q9P122	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like	p.I281	ENST00000355619.5	37	c.843	CCDS9457.1	13																																																																																			FBXL3	-	NULL		0.388	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL3	HGNC	protein_coding	OTTHUMT00000045312.3	G			77581724	-1	no_errors	ENST00000355619	ensembl	human	known	70_37	silent	SNP	1.000	A
FBXO34	55030	genome.wustl.edu	37	14	55818718	55818718	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:55818718C>T	ENST00000313833.4	+	2	1855	c.1610C>T	c.(1609-1611)tCt>tTt	p.S537F	FBXO34_ENST00000440021.1_Missense_Mutation_p.S537F	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	537										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCAGCCTCTTCTGTGGAAAGT	0.512																																																	0													127.0	123.0	124.0					14																	55818718		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1610C>T	14.37:g.55818718C>T	ENSP00000313159:p.Ser537Phe		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S537F	ENST00000313833.4	37	c.1610	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	C	2.419	-0.333636	0.05278	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.18657	2.2;2.2	5.49	1.59	0.23543	.	0.927090	0.08779	N	0.894943	T	0.11239	0.0274	N	0.22421	0.69	0.09310	N	1	P	0.37636	0.603	B	0.26969	0.075	T	0.22034	-1.0228	10	0.72032	D	0.01	0.1888	5.0515	0.14511	0.1224:0.6294:0.1181:0.13	.	537	Q9NWN3	FBX34_HUMAN	F	537	ENSP00000313159:S537F;ENSP00000394117:S537F	ENSP00000313159:S537F	S	+	2	0	FBXO34	54888471	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.021000	0.12504	0.121000	0.18284	-0.136000	0.14681	TCT	FBXO34	-	NULL		0.512	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	C			55818718	+1	no_errors	ENST00000313833	ensembl	human	known	70_37	missense	SNP	0.000	T
FBXO40	51725	genome.wustl.edu	37	3	121340763	121340763	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:121340763G>A	ENST00000338040.4	+	3	901	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	163					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TATGAATGGTGAAACCAGTGT	0.502																																																	0													105.0	113.0	110.0					3																	121340763		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.487G>A	3.37:g.121340763G>A	ENSP00000337510:p.Glu163Lys		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.E163K	ENST00000338040.4	37	c.487	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.094869	0.00364	.	.	ENSG00000163833	ENST00000338040	T	0.42131	0.98	5.46	4.59	0.56863	.	0.506225	0.20763	N	0.086136	T	0.22859	0.0552	L	0.29908	0.895	0.09310	N	1	P	0.35272	0.493	B	0.27380	0.079	T	0.14364	-1.0475	10	0.07482	T	0.82	-5.9437	8.3707	0.32412	0.1765:0.0:0.8235:0.0	.	163	Q9UH90	FBX40_HUMAN	K	163	ENSP00000337510:E163K	ENSP00000337510:E163K	E	+	1	0	FBXO40	122823453	0.114000	0.22134	0.018000	0.16275	0.001000	0.01503	2.158000	0.42329	1.327000	0.45338	-0.142000	0.14014	GAA	FBXO40	-	NULL		0.502	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	G	NM_016298		121340763	+1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	0.022	A
FCGBP	8857	genome.wustl.edu	37	19	40398400	40398400	+	Silent	SNP	G	G	A	rs142244772		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:40398400G>A	ENST00000221347.6	-	14	6574	c.6567C>T	c.(6565-6567)ttC>ttT	p.F2189F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2189	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTCCCCGTCGAAAGCCAGCG	0.662																																																	0								G		0,4108		0,0,2054	67.0	74.0	71.0		6567	0.2	0.7	19	dbSNP_134	71	1,7763		0,1,3881	no	coding-synonymous	FCGBP	NM_003890.2		0,1,5935	AA,AG,GG		0.0129,0.0,0.0084		2189/5406	40398400	1,11871	2054	3882	5936	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6567C>T	19.37:g.40398400G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.F2189	ENST00000221347.6	37	c.6567	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40398400	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.995	A
FCGR1A	2209	genome.wustl.edu	37	1	149755775	149755775	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:149755775C>G	ENST00000369168.4	+	3	323	c.269C>G	c.(268-270)tCa>tGa	p.S90*	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	90	Ig-like C2-type 1.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGAGGTCTCTCAGGGCGAAGT	0.532																																																	0													8.0	10.0	9.0					1																	149755775		1690	3512	5202	SO:0001587	stop_gained	2209			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.269C>G	1.37:g.149755775C>G	ENSP00000358165:p.Ser90*		P12315|Q5QNW7|Q92495|Q92663	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S90*	ENST00000369168.4	37	c.269	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110311	0.20714	.	.	ENSG00000150337	ENST00000369168	.	.	.	3.13	3.13	0.36017	.	0.000000	0.43110	D	0.000614	.	.	.	.	.	.	0.43300	D	0.99529	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.4383	0.44450	0.0:1.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000358165:S90X	S	+	2	0	FCGR1A	148022399	0.019000	0.18553	0.187000	0.23214	0.016000	0.09150	2.139000	0.42149	1.700000	0.51204	0.411000	0.27672	TCA	FCGR1A	-	smart_Ig_sub,smart_Ig_sub2		0.532	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	C	NM_000566		149755775	+1	no_errors	ENST00000369168	ensembl	human	known	70_37	nonsense	SNP	0.186	G
FCRL1	115350	genome.wustl.edu	37	1	157776818	157776818	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:157776818C>T	ENST00000368176.3	-	2	120				FCRL1_ENST00000489998.1_5'Flank|FCRL1_ENST00000491942.1_Intron|FCRL1_ENST00000358292.3_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGACAGCAATCTGCAGGCCTC	0.532																																					GBM(54;482 1003 11223 30131 35730)												0													44.0	42.0	43.0					1																	157776818		692	1591	2283	SO:0001627	intron_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.52+73G>A	1.37:g.157776818C>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	RNA	SNP	-	NULL	ENST00000368176.3	37	NULL	CCDS1170.1	1																																																																																			FCRL1	-	-		0.532	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	C	NM_052938		157776818	-1	no_errors	ENST00000480310	ensembl	human	known	70_37	rna	SNP	0.001	T
FCGR2A	2212	genome.wustl.edu	37	1	161479734	161479734	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:161479734G>C	ENST00000271450.6	+	4	527	c.489G>C	c.(487-489)caG>caC	p.Q163H	FCGR2A_ENST00000367972.4_Missense_Mutation_p.Q162H	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	163	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAAATCCCAGAAATTCTCCC	0.502																																																	0													126.0	116.0	119.0					1																	161479734		2203	4300	6503	SO:0001583	missense	2212			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.489G>C	1.37:g.161479734G>C	ENSP00000271450:p.Gln163His		Q8WUN1|Q8WW64	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q163H	ENST00000271450.6	37	c.489	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	.	8.876	0.950561	0.18431	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12879	2.64;2.64	2.65	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.117680	0.02196	N	0.061857	T	0.04182	0.0116	N	0.24115	0.695	0.21878	N	0.999496	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21930	-1.0231	9	0.48119	T	0.1	.	8.953	0.35801	0.0:0.0:1.0:0.0	.	163;162	P12318;P12318-2	FCG2A_HUMAN;.	H	162;163	ENSP00000356949:Q162H;ENSP00000271450:Q163H	ENSP00000271450:Q163H	Q	+	3	2	FCGR2A	159746358	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	-0.021000	0.12504	1.777000	0.52277	0.555000	0.69702	CAG	FCGR2A	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	G	NM_021642		161479734	+1	no_errors	ENST00000271450	ensembl	human	known	70_37	missense	SNP	0.005	C
FER1L6	654463	genome.wustl.edu	37	8	125078704	125078704	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:125078704G>A	ENST00000522917.1	+	27	3797	c.3591G>A	c.(3589-3591)agG>agA	p.R1197R	FER1L6_ENST00000399018.1_Silent_p.R1197R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1197						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCACTAAGAGGAGAAAGAGGA	0.498																																																	0													230.0	228.0	229.0					8																	125078704		1904	4124	6028	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3591G>A	8.37:g.125078704G>A				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1197	ENST00000522917.1	37	c.3591	CCDS43767.1	8																																																																																			FER1L6	-	NULL		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		125078704	+1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.357	A
FEZF2	55079	genome.wustl.edu	37	3	62358300	62358300	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:62358300C>T	ENST00000283268.3	-	2	538	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FEZF2_ENST00000475839.1_Missense_Mutation_p.E82K|FEZF2_ENST00000486811.1_Missense_Mutation_p.E82K	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	82					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GACGGCACCTCGTAGCCTAGG	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0													30.0	34.0	33.0					3																	62358300		2203	4300	6503	SO:0001583	missense	55079			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.244G>A	3.37:g.62358300C>T	ENSP00000283268:p.Glu82Lys		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E82K	ENST00000283268.3	37	c.244	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395231	0.62066	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.08984	3.03;3.03;3.03	5.1	5.1	0.69264	.	0.099870	0.64402	D	0.000001	T	0.08223	0.0205	L	0.50333	1.59	0.58432	D	0.999995	P	0.47545	0.897	B	0.24701	0.055	T	0.15954	-1.0419	10	0.72032	D	0.01	-15.3945	18.119	0.89565	0.0:1.0:0.0:0.0	.	82	Q8TBJ5	FEZF2_HUMAN	K	82	ENSP00000418589:E82K;ENSP00000283268:E82K;ENSP00000418804:E82K	ENSP00000283268:E82K	E	-	1	0	FEZF2	62333340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.977000	0.70492	2.399000	0.81585	0.555000	0.69702	GAG	FEZF2	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	C	NM_018008		62358300	-1	no_errors	ENST00000283268	ensembl	human	known	70_37	missense	SNP	1.000	T
FGA	2243	genome.wustl.edu	37	4	155505632	155505632	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:155505632C>T	ENST00000302053.3	-	6	2323	c.2245G>A	c.(2245-2247)Gaa>Aaa	p.E749K		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	749	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.E749Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCATAGCCTTCAGCCTCAGAG	0.517																																					NSCLC(143;340 1922 20892 22370 48145)												1	Substitution - Missense(1)	cervix(1)											134.0	130.0	132.0					4																	155505632		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2245G>A	4.37:g.155505632C>T	ENSP00000306361:p.Glu749Lys		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E749K	ENST00000302053.3	37	c.2245	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530427	0.27387	.	.	ENSG00000171560	ENST00000302053	D	0.97328	-4.34	5.7	4.87	0.63330	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.045523	0.85682	D	0.000000	D	0.95671	0.8592	L	0.59967	1.855	0.80722	D	1	B	0.25743	0.133	B	0.27500	0.08	D	0.94054	0.7320	10	0.66056	D	0.02	.	14.9049	0.70711	0.0:0.9312:0.0:0.0688	.	749	P02671	FIBA_HUMAN	K	749	ENSP00000306361:E749K	ENSP00000306361:E749K	E	-	1	0	FGA	155725082	0.991000	0.36638	0.040000	0.18447	0.042000	0.13812	2.946000	0.49050	1.418000	0.47098	-0.143000	0.13931	GAA	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.517	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505632	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	0.993	T
FGF14	2259	genome.wustl.edu	37	13	102568803	102568803	+	Splice_Site	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:102568803C>A	ENST00000376143.4	-	1	192	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	65					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCCACAGACCTTGGCGCCGC	0.657																																																	0													42.0	44.0	43.0					13																	102568803		2203	4300	6503	SO:0001630	splice_region_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.193+1G>T	13.37:g.102568803C>A			Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.D65Y	ENST00000376143.4	37	c.193	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672244	0.29693	.	.	ENSG00000102466	ENST00000376143	T	0.77229	-1.08	5.36	3.62	0.41486	.	.	.	.	.	T	0.67702	0.2921	N	0.22421	0.69	0.80722	D	1	P	0.43412	0.806	P	0.45753	0.492	T	0.61486	-0.7053	8	.	.	.	.	10.5191	0.44907	0.1328:0.7976:0.0:0.0696	.	65	Q92915	FGF14_HUMAN	Y	65	ENSP00000365313:D65Y	.	D	-	1	0	FGF14	101366804	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.541000	0.67212	0.620000	0.30215	-0.311000	0.09066	GAT	FGF14	-	NULL		0.657	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	C		Missense_Mutation	102568803	-1	no_errors	ENST00000376143	ensembl	human	known	70_37	missense	SNP	1.000	A
FGF5	2250	genome.wustl.edu	37	4	81208212	81208212	+	3'UTR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:81208212G>C	ENST00000312465.7	+	0	1419				FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTTTGATGCAGATAAAATATT	0.234																																																	0																																										SO:0001624	3_prime_UTR_variant	2250			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.*386G>C	4.37:g.81208212G>C			B2R554|O75846|Q3Y8M3|Q8NF90	RNA	SNP	-	NULL	ENST00000312465.7	37	NULL	CCDS34021.1	4																																																																																			FGF5	-	-		0.234	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	G			81208212	+1	no_errors	ENST00000503413	ensembl	human	known	70_37	rna	SNP	1.000	C
FHIT	2272	genome.wustl.edu	37	3	59737842	59737842	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:59737842C>T	ENST00000468189.1	-	0	924				FHIT_ENST00000476844.1_Intron|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000492590.1_Intron			P49789	FHIT_HUMAN	fragile histidine triad						DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		AGCCACCACCCAAGGATGCTG	0.547			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																															Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0																																										SO:0001624	3_prime_UTR_variant	2272	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.*110G>A	3.37:g.59737842C>T			A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	RNA	SNP	-	NULL	ENST00000468189.1	37	NULL	CCDS2894.1	3																																																																																			FHIT	-	-		0.547	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1	C	NM_002012		59737842	-1	no_errors	ENST00000466788	ensembl	human	known	70_37	rna	SNP	0.000	T
FILIP1	27145	genome.wustl.edu	37	6	76023430	76023430	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:76023430C>T	ENST00000237172.7	-	5	2448	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L	FILIP1_ENST00000393004.2_Silent_p.L706L|FILIP1_ENST00000370020.1_Silent_p.L607L|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	706										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ATCTGTGTCTCAGTTCAGCTT	0.413																																																	0													184.0	188.0	187.0					6																	76023430		2203	4300	6503	SO:0001819	synonymous_variant	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2118G>A	6.37:g.76023430C>T			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.L706	ENST00000237172.7	37	c.2118	CCDS4984.1	6																																																																																			FILIP1	-	NULL		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	C	XM_029179		76023430	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF9	64147	genome.wustl.edu	37	3	47281584	47281584	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:47281584G>C	ENST00000265529.3	-	18	2605				KIF9_ENST00000452770.2_Intron|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000335044.2_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		agccctctcagataagtcatc	0.592																																					Colon(44;962 1147 15977 24541)												0																																										SO:0001627	intron_variant	285352			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1924+706C>G	3.37:g.47281584G>C			Q86Z28|Q9H8A4	RNA	SNP	-	NULL	ENST00000265529.3	37	NULL	CCDS2752.1	3																																																																																			RP11-447D11.2	-	-		0.592	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ39534	Clone_based_vega_gene	protein_coding	OTTHUMT00000257475.2	G			47281584	+1	no_errors	ENST00000429315	ensembl	human	known	70_37	rna	SNP	0.013	C
FILIP1L	11259	genome.wustl.edu	37	3	99567922	99567922	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:99567922C>T	ENST00000354552.3	-	5	3068	c.2598G>A	c.(2596-2598)atG>atA	p.M866I	FILIP1L_ENST00000471562.1_Missense_Mutation_p.M626I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.M442I|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.M866I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.M626I	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	866						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CCTTGGATTTCATCCAGGGAA	0.473																																																	0													146.0	135.0	138.0					3																	99567922		1909	4133	6042	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2598G>A	3.37:g.99567922C>T	ENSP00000346560:p.Met866Ile		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.M866I	ENST00000354552.3	37	c.2598	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954910	0.18431	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.25579	2.1;1.8;1.79;2.1;1.8;1.83	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000004	T	0.18467	0.0443	N	0.21097	0.63	0.33484	D	0.587828	B;B	0.17667	0.023;0.013	B;B	0.12156	0.007;0.005	T	0.13845	-1.0494	10	0.28530	T	0.3	-10.0488	13.6422	0.62257	0.0:0.9298:0.0:0.0702	.	866;866	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	866;442;626;866;626;612;626	ENSP00000346560:M866I;ENSP00000417774:M442I;ENSP00000419642:M626I;ENSP00000327880:M866I;ENSP00000373192:M626I;ENSP00000419874:M626I	ENSP00000327880:M866I	M	-	3	0	FILIP1L	101050612	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.311000	0.33562	2.840000	0.97914	0.655000	0.94253	ATG	FILIP1L	-	NULL		0.473	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	C	NM_014890		99567922	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	T
LINC00982	440556	genome.wustl.edu	37	1	2979482	2979482	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:2979482C>T	ENST00000445317.1	-	0	2156				LINC00982_ENST00000606861.1_RNA|LINC00982_ENST00000413472.1_RNA|LINC00982_ENST00000415573.1_RNA|LINC00982_ENST00000321399.3_RNA|LINC00982_ENST00000321336.1_RNA|LINC00982_ENST00000453118.1_RNA	NR_015440.1				long intergenic non-protein coding RNA 982																		CCCTGTCCCCCACCCCCAGCA	0.677																																																	0																																												440556					1p36.32	2013-07-05			ENSG00000177133	ENSG00000177133		"""Long non-coding RNAs"""	48664	non-coding RNA	RNA, long non-coding						23801869	Standard	NR_015440		Approved	FLJ42875			OTTHUMG00000000563		1.37:g.2979482C>T				RNA	SNP	-	NULL	ENST00000445317.1	37	NULL		1																																																																																			RP1-163G9.1	-	-		0.677	LINC00982-002	KNOWN	basic	antisense	FLJ42875	Clone_based_vega_gene	antisense	OTTHUMT00000001333.1	C			2979482	-1	no_errors	ENST00000321399	ensembl	human	known	70_37	rna	SNP	0.000	T
FMN1	342184	genome.wustl.edu	37	15	33359498	33359498	+	Intron	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:33359498C>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.M196I|FMN1_ENST00000334528.9_Missense_Mutation_p.M196I			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGCACCATTCATTTCCCCAG	0.512																																																	0													49.0	49.0	49.0					15																	33359498		1928	4140	6068	SO:0001627	intron_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2223G>T	15.37:g.33359498C>A			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.M196I	ENST00000559047.1	37	c.588		15	.	.	.	.	.	.	.	.	.	.	C	3.163	-0.171721	0.06421	.	.	ENSG00000248905	ENST00000334528	T	0.37584	1.19	5.23	2.13	0.27403	.	.	.	.	.	T	0.23965	0.0580	.	.	.	.	.	.	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.18429	-1.0337	7	0.49607	T	0.09	.	4.1202	0.10101	0.1651:0.4957:0.0:0.3392	.	196;196	Q68DA7-3;Q68DA7-5	.;.	I	196	ENSP00000333950:M196I	ENSP00000333950:M196I	M	-	3	0	FMN1	31146790	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.415000	0.21181	0.265000	0.21872	-0.150000	0.13652	ATG	FMN1	-	NULL		0.512	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	C	NM_001103184		33359498	-1	no_errors	ENST00000334528	ensembl	human	known	70_37	missense	SNP	0.000	A
FNDC1	84624	genome.wustl.edu	37	6	159653912	159653912	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:159653912G>A	ENST00000297267.9	+	11	2568	c.2368G>A	c.(2368-2370)Ggt>Agt	p.G790S	FNDC1_ENST00000340366.6_Missense_Mutation_p.G727S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	790					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAAAGCCACGGTGACGGCGA	0.637																																																	0													27.0	30.0	29.0					6																	159653912		2068	4187	6255	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2368G>A	6.37:g.159653912G>A	ENSP00000297267:p.Gly790Ser		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G790S	ENST00000297267.9	37	c.2368	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.754|6.754	0.507905|0.507905	0.12883|0.12883	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06687|.	3.27;4.1|.	2.13|2.13	-4.26|-4.26	0.03755|0.03755	.|.	1.033160|.	0.07638|.	N|.	0.929882|.	T|T	0.11024|0.11024	0.0269|0.0269	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.003|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|5	0.06494|.	T|.	0.89|.	0.0021|0.0021	8.0936|8.0936	0.30816|0.30816	0.597:0.0:0.403:0.0|0.597:0.0:0.403:0.0	.|.	727;790|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	S|Q	790;727|685	ENSP00000297267:G790S;ENSP00000342460:G727S|.	ENSP00000297267:G790S|.	G|R	+|+	1|2	0|0	FNDC1|FNDC1	159573902|159573902	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.121000|0.121000	0.15667|0.15667	-1.694000|-1.694000	0.01425|0.01425	-1.578000|-1.578000	0.00866|0.00866	GGT|CGG	FNDC1	-	NULL		0.637	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	G	NM_032532		159653912	+1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.000	A
FOXI1	2299	genome.wustl.edu	37	5	169533307	169533307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:169533307G>T	ENST00000306268.6	+	1	407	c.346G>T	c.(346-348)Gag>Tag	p.E116*	FOXI1_ENST00000449804.2_Nonsense_Mutation_p.E116*			Q12951	FOXI1_HUMAN	forkhead box I1	116					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCTCGCAGGAGGAGCTGAT	0.677									Pendred syndrome																																								0													21.0	19.0	20.0					5																	169533307		2201	4296	6497	SO:0001587	stop_gained	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.346G>T	5.37:g.169533307G>T	ENSP00000304286:p.Glu116*		Q14518|Q66SR7|Q8N6L8	Nonsense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E116*	ENST00000306268.6	37	c.346	CCDS4372.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.061169	0.97246	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.6553	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	116	.	ENSP00000304286:E116X	E	+	1	0	FOXI1	169465885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.114000	0.64648	2.401000	0.81631	0.655000	0.94253	GAG	FOXI1	-	NULL		0.677	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	HGNC	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188		169533307	+1	no_errors	ENST00000306268	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FRMD5	84978	genome.wustl.edu	37	15	44202144	44202144	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:44202144G>C	ENST00000417257.1	-	5	539	c.363C>G	c.(361-363)ctC>ctG	p.L121L	FRMD5_ENST00000402883.1_Silent_p.L121L|FRMD5_ENST00000484674.1_Silent_p.L32L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGCCATGGTAGAGATCCCTTT	0.373											OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													57.0	51.0	53.0					15																	44202144		2198	4298	6496	SO:0001819	synonymous_variant	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.363C>G	15.37:g.44202144G>C		922	Q8NBG4	Silent	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.L121	ENST00000417257.1	37	c.363	CCDS10107.2	15																																																																																			FRMD5	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain		0.373	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	G	NM_032892		44202144	-1	no_errors	ENST00000417257	ensembl	human	known	70_37	silent	SNP	1.000	C
FRMD6	122786	genome.wustl.edu	37	14	52174875	52174875	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:52174875C>G	ENST00000344768.5	+	7	834	c.638C>G	c.(637-639)tCc>tGc	p.S213C	FRMD6_ENST00000554167.1_Missense_Mutation_p.S136C|FRMD6_ENST00000356218.4_Missense_Mutation_p.S205C|FRMD6_ENST00000395718.2_Missense_Mutation_p.S205C			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	213	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTAACAGCTTCCGAAGCTCAT	0.438																																																	0													116.0	99.0	105.0					14																	52174875		2203	4300	6503	SO:0001583	missense	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.638C>G	14.37:g.52174875C>G	ENSP00000343899:p.Ser213Cys		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.S213C	ENST00000344768.5	37	c.638	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870244	0.51588	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000557405	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.42	5.42	0.78866	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.43152	1.355	0.80722	D	1	B;B;B	0.33413	0.411;0.231;0.087	B;B;B	0.34301	0.112;0.179;0.112	T	0.14282	-1.0478	10	0.72032	D	0.01	.	19.2076	0.93739	0.0:1.0:0.0:0.0	.	136;213;205	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	C	205;205;213;136;103	ENSP00000348550:S205C;ENSP00000379068:S205C;ENSP00000343899:S213C;ENSP00000451977:S136C;ENSP00000450667:S103C	ENSP00000343899:S213C	S	+	2	0	FRMD6	51244625	1.000000	0.71417	0.997000	0.53966	0.537000	0.34900	4.816000	0.62642	2.552000	0.86080	0.591000	0.81541	TCC	FRMD6	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.438	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	C	NM_152330		52174875	+1	no_errors	ENST00000344768	ensembl	human	known	70_37	missense	SNP	0.999	G
FSIP2	401024	genome.wustl.edu	37	2	186657507	186657507	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:186657507G>T	ENST00000424728.1	+	16	5644	c.5644G>T	c.(5644-5646)Gaa>Taa	p.E1882*	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E1971*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1882										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCTTCTCATGAACACACCTA	0.368																																																	0																																										SO:0001587	stop_gained	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5644G>T	2.37:g.186657507G>T	ENSP00000401306:p.Glu1882*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	NULL	p.E1971*	ENST00000424728.1	37	c.5911		2	.	.	.	.	.	.	.	.	.	.	G	41	8.591754	0.98877	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	.	.	.	5.2	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.7072	0.28657	0.1867:0.0:0.8133:0.0	.	.	.	.	X	1971;1882;1882	.	ENSP00000321903:E1882X	E	+	1	0	FSIP2	186365752	0.090000	0.21635	0.003000	0.11579	0.143000	0.21401	1.893000	0.39758	0.792000	0.33850	0.650000	0.86243	GAA	FSIP2	-	NULL		0.368	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186657507	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	nonsense	SNP	0.003	T
FZD3	7976	genome.wustl.edu	37	8	28385334	28385334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:28385334G>T	ENST00000240093.3	+	5	1535	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Nonsense_Mutation_p.E353*	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	353					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAATAAAATTGAAGGTGACAA	0.448																																																	0													142.0	139.0	140.0					8																	28385334		2203	4300	6503	SO:0001587	stop_gained	7976			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1057G>T	8.37:g.28385334G>T	ENSP00000240093:p.Glu353*		A8K615	Nonsense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E353*	ENST00000240093.3	37	c.1057	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.333822	0.99140	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5384	0.87840	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000240093:E353X	E	+	1	0	FZD3	28441253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.482000	0.83794	0.563000	0.77884	GAA	FZD3	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.448	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	HGNC	protein_coding	OTTHUMT00000219986.2	G	NM_145866		28385334	+1	no_errors	ENST00000240093	ensembl	human	known	70_37	nonsense	SNP	1.000	T
G6PC	2538	genome.wustl.edu	37	17	41061433	41061433	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:41061433C>T	ENST00000253801.2	+	4	639	c.560C>T	c.(559-561)tCa>tTa	p.S187L	G6PC_ENST00000592383.1_Silent_p.V161V|G6PC_ENST00000585489.1_Intron	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	187					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGAGTCCTGTCAGGTATGGGC	0.498																																																	0													292.0	243.0	260.0					17																	41061433		2203	4300	6503	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.560C>T	17.37:g.41061433C>T	ENSP00000253801:p.Ser187Leu		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.S187L	ENST00000253801.2	37	c.560	CCDS11446.1	17	.	.	.	.	.	.	.	.	.	.	C	18.80	3.699996	0.68501	.	.	ENSG00000131482	ENST00000253801	T	0.69306	-0.39	5.62	5.62	0.85841	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.183062	0.38326	N	0.001725	T	0.60301	0.2258	N	0.16478	0.41	0.80722	D	1	D	0.56968	0.978	P	0.51324	0.666	T	0.53408	-0.8443	10	0.09084	T	0.74	.	19.8538	0.96750	0.0:1.0:0.0:0.0	.	187	P35575	G6PC_HUMAN	L	187	ENSP00000253801:S187L	ENSP00000253801:S187L	S	+	2	0	G6PC	38314959	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.236000	0.51336	2.927000	0.99377	0.637000	0.83480	TCA	G6PC	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase		0.498	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	HGNC	protein_coding	OTTHUMT00000452451.1	C	NM_000151		41061433	+1	no_errors	ENST00000253801	ensembl	human	known	70_37	missense	SNP	1.000	T
GAB4	128954	genome.wustl.edu	37	22	17444720	17444720	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:17444720C>T	ENST00000400588.1	-	9	1584		c.e9-1			NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ATGCCGGGTTCTGCTGTCACA	0.592																																																	0													38.0	44.0	42.0					22																	17444720		1993	4196	6189	SO:0001630	splice_region_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1477-1G>A	22.37:g.17444720C>T				Splice_Site	SNP	-	e9-1	ENST00000400588.1	37	c.1477-1	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	2.020	-0.424854	0.04734	.	.	ENSG00000215568	ENST00000400588	.	.	.	2.29	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4797	0.16717	0.0:0.161:0.0:0.839	.	.	.	.	.	-1	.	.	.	-	.	.	GAB4	15824720	1.000000	0.71417	0.884000	0.34674	0.010000	0.07245	4.001000	0.57046	0.308000	0.22923	-0.490000	0.04691	.	GAB4	-	-		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	C	XM_372882	Intron	17444720	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	splice_site	SNP	1.000	T
GABBR1	2550	genome.wustl.edu	37	6	29591239	29591239	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:29591239G>C	ENST00000377034.4	-	8	1141	c.806C>G	c.(805-807)tCc>tGc	p.S269C	GABBR1_ENST00000377012.4_Missense_Mutation_p.S152C|GABBR1_ENST00000377016.4_Missense_Mutation_p.S207C|GABBR1_ENST00000376977.3_Missense_Mutation_p.S269C|GABBR1_ENST00000355973.3_Missense_Mutation_p.S152C	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	269					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGGTGAGCTGGAGCCATAGGA	0.562																																																	0													95.0	69.0	78.0					6																	29591239		2203	4300	6503	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.806C>G	6.37:g.29591239G>C	ENSP00000366233:p.Ser269Cys		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.S269C	ENST00000377034.4	37	c.806	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	-	22.1	4.246484	0.80024	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	4.89	4.89	0.63831	Extracellular ligand-binding receptor (1);	0.122077	0.53938	D	0.000050	D	0.88847	0.6548	M	0.65498	2.005	0.58432	D	0.999995	D;D;D;D	0.76494	0.998;0.997;0.999;0.999	D;P;D;D	0.68621	0.959;0.9;0.951;0.934	D	0.90109	0.4190	10	0.72032	D	0.01	-25.9804	13.593	0.61971	0.0:0.0:1.0:0.0	.	269;207;269;152	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	C	152;269;207;152;269	ENSP00000348248:S152C;ENSP00000366176:S269C;ENSP00000366215:S207C;ENSP00000366211:S152C;ENSP00000366233:S269C	ENSP00000348248:S152C	S	-	2	0	GABBR1	29699218	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.154000	0.94694	2.288000	0.76882	0.466000	0.42574	TCC	GABBR1	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B		0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29591239	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	1.000	C
GALNT1	2589	genome.wustl.edu	37	18	33267010	33267010	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:33267010G>A	ENST00000269195.5	+	5	823	c.720G>A	c.(718-720)gtG>gtA	p.V240V	GALNT1_ENST00000537549.1_Silent_p.V180V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	240					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCATCGATGTGATCAGTGATG	0.413																																																	0													219.0	184.0	196.0					18																	33267010		2203	4300	6503	SO:0001819	synonymous_variant	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.720G>A	18.37:g.33267010G>A			Q86TJ7|Q9UM86	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V240	ENST00000269195.5	37	c.720	CCDS11915.1	18																																																																																			GALNT1	-	pfam_Glyco_trans_2		0.413	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT1	HGNC	protein_coding	OTTHUMT00000255771.2	G	NM_020474		33267010	+1	no_errors	ENST00000269195	ensembl	human	known	70_37	silent	SNP	0.999	A
GALT	2592	genome.wustl.edu	37	9	34649556	34649556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:34649556G>T	ENST00000378842.3	+	10	1096	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	GALT_ENST00000450095.2_Nonsense_Mutation_p.E243*|IL11RA_ENST00000555003.1_5'Flank|IL11RA_ENST00000441545.2_5'Flank|GALT_ENST00000556278.1_Intron|GALT_ENST00000488412.2_3'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	352					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCTCACCCCTGAGCAGGTCAG	0.557									Galactosemia																																								0													79.0	75.0	77.0					9																	34649556		2203	4300	6503	SO:0001587	stop_gained	2592	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.1054G>T	9.37:g.34649556G>T	ENSP00000368119:p.Glu352*		B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Nonsense_Mutation	SNP	pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1	p.E352*	ENST00000378842.3	37	c.1054	CCDS6565.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.152928	0.98099	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3339	17.5529	0.87881	0.0:0.0:1.0:0.0	.	.	.	.	X	243;352	.	ENSP00000368119:E352X	E	+	1	0	GALT	34639556	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	9.268000	0.95675	2.492000	0.84095	0.561000	0.74099	GAG	GALT	-	pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1		0.557	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALT	HGNC	protein_coding	OTTHUMT00000052231.1	G	NM_000155		34649556	+1	no_errors	ENST00000378842	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GAPVD1	26130	genome.wustl.edu	37	9	128112573	128112573	+	Splice_Site	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:128112573G>C	ENST00000495955.1	+	22	3643		c.e22-1		GAPVD1_ENST00000394105.2_Splice_Site|GAPVD1_ENST00000470056.1_Splice_Site|GAPVD1_ENST00000394104.2_Splice_Site|GAPVD1_ENST00000394083.2_Splice_Site|GAPVD1_ENST00000312123.9_Splice_Site|GAPVD1_ENST00000297933.6_Splice_Site|GAPVD1_ENST00000265956.4_Splice_Site			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1						endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCATTTTTCAGAGATGCAAAA	0.358																																																	0													69.0	72.0	71.0					9																	128112573		2203	4300	6503	SO:0001630	splice_region_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3354-1G>C	9.37:g.128112573G>C			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	SNP	-	e20-1	ENST00000495955.1	37	c.3381-1		9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313828	0.81358	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3473	0.94370	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPVD1	127152394	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.380000	0.73158	2.816000	0.96949	0.561000	0.74099	.	GAPVD1	-	-		0.358	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	G		Intron	128112573	+1	no_errors	ENST00000394105	ensembl	human	known	70_37	splice_site	SNP	1.000	C
GAS2L2	246176	genome.wustl.edu	37	17	34074179	34074179	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:34074179G>A	ENST00000254466.6	-	5	968	c.941C>T	c.(940-942)tCa>tTa	p.S314L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S298L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	314					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGGCTCTGTGAGCGGCTGAT	0.632																																																	0													105.0	113.0	110.0					17																	34074179		2203	4300	6503	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.941C>T	17.37:g.34074179G>A	ENSP00000254466:p.Ser314Leu		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S314L	ENST00000254466.6	37	c.941	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785739	0.49997	.	.	ENSG00000132139	ENST00000254466	T	0.20332	2.08	5.1	5.1	0.69264	.	0.174627	0.39909	N	0.001229	T	0.43986	0.1272	M	0.63843	1.955	0.45046	D	0.998064	D	0.89917	1.0	D	0.80764	0.994	T	0.29488	-1.0010	10	0.66056	D	0.02	-25.8985	15.3692	0.74548	0.0:0.0:1.0:0.0	.	314	Q8NHY3	GA2L2_HUMAN	L	314	ENSP00000254466:S314L	ENSP00000254466:S314L	S	-	2	0	GAS2L2	31098292	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.728000	0.68531	2.644000	0.89710	0.561000	0.74099	TCA	GAS2L2	-	NULL		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	G	NM_139285		34074179	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	missense	SNP	1.000	A
GAS6	2621	genome.wustl.edu	37	13	114549541	114549541	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:114549541G>C	ENST00000327773.6	-	4	448	c.302C>G	c.(301-303)tCt>tGt	p.S101C	GAS6_ENST00000355761.4_Missense_Mutation_p.S47C|GAS6_ENST00000357389.3_Missense_Mutation_p.S101C|GAS6_ENST00000476291.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	101					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGTGTACGGAGACCCATACTT	0.547																																																	0													173.0	151.0	159.0					13																	114549541		2203	4300	6503	SO:0001583	missense	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.302C>G	13.37:g.114549541G>C	ENSP00000331831:p.Ser101Cys		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.S101C	ENST00000327773.6	37	c.302	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474802	0.43942	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.99806	-6.84;-2.31;-6.84	3.81	2.92	0.33932	.	.	.	.	.	D	0.99498	0.9821	M	0.85777	2.775	0.20489	N	0.999896	D	0.58268	0.982	P	0.50490	0.642	D	0.99880	1.1111	9	0.72032	D	0.01	-0.9259	9.4927	0.38969	0.0:0.2297:0.7703:0.0	.	101	Q14393-2	.	C	101;47;101	ENSP00000349962:S101C;ENSP00000348003:S47C;ENSP00000331831:S101C	ENSP00000331831:S101C	S	-	2	0	GAS6	113564402	0.493000	0.26035	0.017000	0.16124	0.017000	0.09413	1.455000	0.35190	0.843000	0.35070	0.561000	0.74099	TCT	GAS6	-	superfamily_GLA_domain		0.547	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	G	NM_000820		114549541	-1	no_errors	ENST00000357389	ensembl	human	known	70_37	missense	SNP	0.144	C
GATSL3	652968	genome.wustl.edu	37	22	30683473	30683473	+	Silent	SNP	C	C	T	rs368151687		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:30683473C>T	ENST00000407689.3	-	3	390	c.261G>A	c.(259-261)gcG>gcA	p.A87A	GATSL3_ENST00000404953.3_Silent_p.A87A|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_5'Flank	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	87										breast(1)|endometrium(1)|lung(1)	3						CCTGCACTGCCGCACCGCTGT	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4380		0,0,2190	31.0	36.0	34.0		261	-9.7	0.0	22		34	2,8582		0,2,4290	no	coding-synonymous	GATSL3	NM_001037666.2		0,2,6480	TT,TC,CC		0.0233,0.0,0.0154		87/330	30683473	2,12962	2190	4292	6482	SO:0001819	synonymous_variant	652968				CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.261G>A	22.37:g.30683473C>T		819	O76052|Q96ND9|Q9UIE8	Silent	SNP	NULL	p.A87	ENST00000407689.3	37	c.261	CCDS43001.1	22																																																																																			GATSL3	-	NULL		0.627	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL3	HGNC	protein_coding	OTTHUMT00000320581.2	C	NM_001037666		30683473	-1	no_errors	ENST00000407689	ensembl	human	known	70_37	silent	SNP	0.000	T
GGA3	23163	genome.wustl.edu	37	17	73236104	73236104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:73236104G>T	ENST00000245541.6	-	13	1565	c.1349C>A	c.(1348-1350)tCa>tAa	p.S450*	GGA3_ENST00000538886.1_Nonsense_Mutation_p.S328*|GGA3_ENST00000578348.1_Nonsense_Mutation_p.S328*|GGA3_ENST00000351904.7_Nonsense_Mutation_p.S417*|GGA3_ENST00000582717.1_Nonsense_Mutation_p.S378*|GGA3_ENST00000582486.1_Nonsense_Mutation_p.S378*	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	450	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGGGGGCTGAGGGCTGGAG	0.657																																																	0													17.0	19.0	18.0					17																	73236104		2132	4192	6324	SO:0001587	stop_gained	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1349C>A	17.37:g.73236104G>T	ENSP00000245541:p.Ser450*		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Nonsense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.S450*	ENST00000245541.6	37	c.1349	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	37	5.980813	0.97168	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	.	.	.	4.74	3.76	0.43208	.	1.128510	0.06644	N	0.761577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.606	12.2789	0.54753	0.0821:0.0:0.9179:0.0	.	.	.	.	X	450;417;378;328	.	ENSP00000245541:S450X	S	-	2	0	GGA3	70747699	0.865000	0.29922	0.009000	0.14445	0.003000	0.03518	5.429000	0.66495	2.181000	0.69327	0.591000	0.81541	TCA	GGA3	-	NULL		0.657	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	G	NM_138619		73236104	-1	no_errors	ENST00000245541	ensembl	human	known	70_37	nonsense	SNP	0.025	T
GGA3	23163	genome.wustl.edu	37	17	73237521	73237521	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:73237521G>C	ENST00000245541.6	-	10	1122	c.906C>G	c.(904-906)atC>atG	p.I302M	GGA3_ENST00000538886.1_Missense_Mutation_p.I180M|GGA3_ENST00000578348.1_Missense_Mutation_p.I180M|GGA3_ENST00000351904.7_Missense_Mutation_p.I269M|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000582717.1_Missense_Mutation_p.I230M|GGA3_ENST00000582486.1_Missense_Mutation_p.I230M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	302	Binds to ARF1 (in long isoform).|Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCTCGCCATTGATGACCTGCC	0.542																																																	0													157.0	140.0	146.0					17																	73237521		2203	4300	6503	SO:0001583	missense	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.906C>G	17.37:g.73237521G>C	ENSP00000245541:p.Ile302Met		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.I302M	ENST00000245541.6	37	c.906	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575865	0.28092	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.47177	2.21;0.85	4.88	2.9	0.33743	.	0.468250	0.24783	N	0.035626	T	0.51415	0.1673	L	0.51422	1.61	0.80722	D	1	P;B;B	0.50819	0.939;0.039;0.071	P;B;B	0.53006	0.715;0.098;0.114	T	0.52675	-0.8544	10	0.46703	T	0.11	-25.9768	11.6718	0.51406	0.1515:0.0:0.8485:0.0	.	180;269;302	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	302;269;230;180	ENSP00000245541:I302M;ENSP00000326575:I269M	ENSP00000245541:I302M	I	-	3	3	GGA3	70749116	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.309000	0.43699	1.414000	0.47017	0.655000	0.94253	ATC	GGA3	-	NULL		0.542	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	G	NM_138619		73237521	-1	no_errors	ENST00000245541	ensembl	human	known	70_37	missense	SNP	1.000	C
GGCX	2677	genome.wustl.edu	37	2	85781368	85781368	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:85781368C>G	ENST00000233838.4	-	7	867	c.787G>C	c.(787-789)Gac>Cac	p.D263H	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.D206H	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	263					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCTGAGAGGTCAAGCAGCAGC	0.507																																																	0													183.0	180.0	181.0					2																	85781368		2203	4300	6503	SO:0001583	missense	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.787G>C	2.37:g.85781368C>G	ENSP00000233838:p.Asp263His		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.D263H	ENST00000233838.4	37	c.787	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896173	0.91962	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.96967	-4.19;-4.19	5.91	5.91	0.95273	HTTM (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99116	1.0848	10	0.87932	D	0	-23.68	17.7884	0.88545	0.0:1.0:0.0:0.0	.	206;102;263	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	H	263;206	ENSP00000233838:D263H;ENSP00000408045:D206H	ENSP00000233838:D263H	D	-	1	0	GGCX	85634879	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.387000	0.79785	2.804000	0.96469	0.462000	0.41574	GAC	GGCX	-	pfam_VKG_COase,smart_HTTM		0.507	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	C	NM_000821		85781368	-1	no_errors	ENST00000233838	ensembl	human	known	70_37	missense	SNP	1.000	G
GGTA1P	2681	genome.wustl.edu	37	9	124241583	124241583	+	RNA	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:124241583C>G	ENST00000495328.1	-	0	137							Q4G0N0	GGTA1_HUMAN	glycoprotein, alpha-galactosyltransferase 1 pseudogene						glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|protein galactosylation at cell surface (GO:0033580)	anchored component of external side of plasma membrane (GO:0031362)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|transferase activity, transferring hexosyl groups (GO:0016758)										AGGCAGGACTCAGAGAAAGGG	0.498																																																	0																																												2681					9q33.2	2011-05-04	2010-03-19	2011-05-04	ENSG00000204136	ENSG00000204136			4253	pseudogene	pseudogene		104175	"""glycoprotein, alpha-galactosyltransferase 1"""	GLYT2, GGTA, GGTA1		1559713, 2108966	Standard	NR_003191		Approved		uc004bll.1	Q4G0N0	OTTHUMG00000020592		9.37:g.124241583C>G			A2JVH9	RNA	SNP	-	NULL	ENST00000495328.1	37	NULL		9																																																																																			GGTA1P	-	-		0.498	GGTA1P-003	KNOWN	basic	processed_transcript	GGTA1P	HGNC	pseudogene	OTTHUMT00000337174.1	C	NR_003191		124241583	-1	no_errors	ENST00000373793	ensembl	human	known	70_37	rna	SNP	0.190	G
GIMAP7	168537	genome.wustl.edu	37	7	150217069	150217069	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:150217069G>C	ENST00000313543.4	+	2	164	c.7G>C	c.(7-9)Gag>Cag	p.E3Q		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	3					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCATGGCTGAGAGTGAGGA	0.488																																																	0													63.0	57.0	59.0					7																	150217069		2203	4300	6503	SO:0001583	missense	168537			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.7G>C	7.37:g.150217069G>C	ENSP00000315474:p.Glu3Gln			Missense_Mutation	SNP	pfam_AIG1	p.E3Q	ENST00000313543.4	37	c.7	CCDS5903.1	7	.	.	.	.	.	.	.	.	.	.	G	9.317	1.057133	0.19907	.	.	ENSG00000179144	ENST00000313543	T	0.06933	3.24	5.09	2.18	0.27775	.	1.279820	0.05259	N	0.515415	T	0.05731	0.0150	L	0.32530	0.975	0.09310	N	1	P	0.35363	0.497	B	0.28553	0.091	T	0.34725	-0.9817	10	0.16896	T	0.51	.	3.8751	0.09053	0.1961:0.0:0.6122:0.1917	.	3	Q8NHV1	GIMA7_HUMAN	Q	3	ENSP00000315474:E3Q	ENSP00000315474:E3Q	E	+	1	0	GIMAP7	149848002	0.000000	0.05858	0.103000	0.21229	0.043000	0.13939	0.139000	0.16036	1.386000	0.46466	0.655000	0.94253	GAG	GIMAP7	-	NULL		0.488	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP7	HGNC	protein_coding	OTTHUMT00000349277.1	G	NM_153236		150217069	+1	no_errors	ENST00000313543	ensembl	human	known	70_37	missense	SNP	0.001	C
GJC1	10052	genome.wustl.edu	37	17	42882496	42882496	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:42882496G>C	ENST00000426548.1	-	3	959	c.690C>G	c.(688-690)atC>atG	p.I230M	GJC1_ENST00000592524.1_Missense_Mutation_p.I230M|GJC1_ENST00000330514.4_Missense_Mutation_p.I230M|GJC1_ENST00000590758.1_Missense_Mutation_p.I230M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	230					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCAGAAGGAAGATGGTCTTTT	0.428																																																	0													121.0	117.0	118.0					17																	42882496		2203	4300	6503	SO:0001583	missense	10052			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.690C>G	17.37:g.42882496G>C	ENSP00000411528:p.Ile230Met		B3KW68|Q4VAY0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45	p.I230M	ENST00000426548.1	37	c.690	CCDS11487.1	17	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569912	0.45798	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97430	-4.38;-4.38	4.98	4.98	0.66077	Gap junction protein, cysteine-rich domain (1);	0.052891	0.64402	D	0.000001	D	0.98488	0.9496	H	0.94698	3.57	0.58432	D	0.999998	D	0.76494	0.999	D	0.74348	0.983	D	0.98900	1.0776	10	0.87932	D	0	.	6.329	0.21259	0.0977:0.0:0.7172:0.1851	.	230	P36383	CXG1_HUMAN	M	230	ENSP00000411528:I230M;ENSP00000333193:I230M	ENSP00000333193:I230M	I	-	3	3	GJC1	40238022	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.116000	0.50399	2.465000	0.83290	0.514000	0.50259	ATC	GJC1	-	pfam_Connexin_CCC,prints_Connexin		0.428	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC1	HGNC	protein_coding	OTTHUMT00000448661.1	G	NM_005497		42882496	-1	no_errors	ENST00000330514	ensembl	human	known	70_37	missense	SNP	1.000	C
GLB1L2	89944	genome.wustl.edu	37	11	134226237	134226237	+	Missense_Mutation	SNP	G	G	A	rs146193618		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:134226237G>A	ENST00000535456.2	+	6	789	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GLB1L2_ENST00000389881.3_Missense_Mutation_p.E201K|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E201K	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	201					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGTGGAGAATGAATATGGTTC	0.478																																																	0													195.0	199.0	198.0					11																	134226237		2201	4297	6498	SO:0001583	missense	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.601G>A	11.37:g.134226237G>A	ENSP00000444628:p.Glu201Lys		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E201K	ENST00000535456.2	37	c.601	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.095433	0.94197	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.99822	-6.94;-6.94;-6.94	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 35, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.99435	4.565	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.96276	0.9202	10	0.87932	D	0	-27.4646	16.8905	0.86086	0.0:0.0:1.0:0.0	.	201	Q8IW92	GLBL2_HUMAN	K	201	ENSP00000344659:E201K;ENSP00000444628:E201K;ENSP00000374531:E201K	ENSP00000344659:E201K	E	+	1	0	GLB1L2	133731447	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.379000	0.79691	2.732000	0.93576	0.655000	0.94253	GAA	GLB1L2	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35		0.478	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	HGNC	protein_coding	OTTHUMT00000393629.2	G	NM_138342		134226237	+1	no_errors	ENST00000339772	ensembl	human	known	70_37	missense	SNP	1.000	A
GLG1	2734	genome.wustl.edu	37	16	74503973	74503973	+	Splice_Site	SNP	T	T	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:74503973T>A	ENST00000422840.2	-	16	2229		c.e16-2		GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CATCTGCACCTGAAAGGTAAA	0.408																																																	0													86.0	82.0	83.0					16																	74503973		2198	4300	6498	SO:0001630	splice_region_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2230-2A>T	16.37:g.74503973T>A			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	-	e16-2	ENST00000422840.2	37	c.2230-2	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	T	28.9	4.961501	0.92791	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2671	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLG1	73061474	1.000000	0.71417	0.948000	0.38648	0.725000	0.41563	7.900000	0.87376	2.069000	0.61940	0.456000	0.33151	.	GLG1	-	-		0.408	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	T	NM_012201	Intron	74503973	-1	no_errors	ENST00000205061	ensembl	human	known	70_37	splice_site	SNP	1.000	A
GLIS1	148979	genome.wustl.edu	37	1	53995600	53995600	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:53995600G>A	ENST00000312233.2	-	4	1387	c.821C>T	c.(820-822)tCa>tTa	p.S274L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTCCAGCCGTGAGAAGGCCTT	0.632																																																	0													47.0	51.0	50.0					1																	53995600		2203	4300	6503	SO:0001583	missense	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.821C>T	1.37:g.53995600G>A	ENSP00000309653:p.Ser274Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S274L	ENST00000312233.2	37	c.821	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.183754	0.94885	.	.	ENSG00000174332	ENST00000312233	T	0.18810	2.19	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000712	T	0.37544	0.1007	L	0.43757	1.38	0.80722	D	1	D	0.61080	0.989	P	0.62184	0.899	T	0.23261	-1.0193	10	0.87932	D	0	.	17.7575	0.88453	0.0:0.0:1.0:0.0	.	274	Q8NBF1	GLIS1_HUMAN	L	274	ENSP00000309653:S274L	ENSP00000309653:S274L	S	-	2	0	GLIS1	53768188	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.813000	0.99286	2.271000	0.75665	0.491000	0.48974	TCA	GLIS1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	G	NM_147193		53995600	-1	no_errors	ENST00000312233	ensembl	human	known	70_37	missense	SNP	1.000	A
GLRB	2743	genome.wustl.edu	37	4	158074128	158074128	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:158074128G>A	ENST00000264428.4	+	9	1433	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.G388E	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	388					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	ACTGTGAATGGAACAGGGACT	0.418																																																	0													87.0	88.0	88.0					4																	158074128		2203	4300	6503	SO:0001583	missense	2743			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1163G>A	4.37:g.158074128G>A	ENSP00000264428:p.Gly388Glu		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G388E	ENST00000264428.4	37	c.1163	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589538	0.66105	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.84944	-1.92;-1.92	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.486666	0.23468	N	0.047848	D	0.87458	0.6182	L	0.50333	1.59	0.80722	D	1	D	0.57257	0.979	P	0.53062	0.717	D	0.86555	0.1837	10	0.37606	T	0.19	.	18.5985	0.91239	0.0:0.0:1.0:0.0	.	388	P48167	GLRB_HUMAN	E	388	ENSP00000264428:G388E;ENSP00000427186:G388E	ENSP00000264428:G388E	G	+	2	0	GLRB	158293578	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	7.998000	0.88491	2.467000	0.83353	0.561000	0.74099	GGA	GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.418	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	G	NM_000824		158074128	+1	no_errors	ENST00000264428	ensembl	human	known	70_37	missense	SNP	1.000	A
GOLGA2	2801	genome.wustl.edu	37	9	131023839	131023839	+	Splice_Site	SNP	A	A	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:131023839A>C	ENST00000421699.2	-	15	1157	c.1145T>G	c.(1144-1146)gTa>gGa	p.V382G	GOLGA2_ENST00000609374.1_Splice_Site_p.V370G	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	382					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGACTCCATTACCTGCAAGAA	0.507																																																	0													99.0	103.0	102.0					9																	131023839		2203	4300	6503	SO:0001630	splice_region_variant	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1144-1T>G	9.37:g.131023839A>C			Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.V382G	ENST00000421699.2	37	c.1145	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	a	19.85	3.904599	0.72868	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.25250	1.81;1.81	5.3	5.3	0.74995	.	0.151177	0.45867	D	0.000325	T	0.22360	0.0539	L	0.38175	1.15	0.41880	D	0.990313	B	0.31026	0.304	B	0.25140	0.058	T	0.04522	-1.0945	10	0.72032	D	0.01	.	15.2476	0.73517	1.0:0.0:0.0:0.0	.	382	Q08379	GOGA2_HUMAN	G	382;409	ENSP00000416097:V382G;ENSP00000409271:V409G	ENSP00000416097:V382G	V	-	2	0	GOLGA2	130063660	1.000000	0.71417	0.133000	0.22050	0.423000	0.31445	6.568000	0.73987	2.001000	0.58596	0.254000	0.18369	GTA	GOLGA2	-	NULL		0.507	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	A	NM_004486	Missense_Mutation	131023839	-1	no_errors	ENST00000421699	ensembl	human	known	70_37	missense	SNP	0.996	C
GOLGA8I	283796	genome.wustl.edu	37	15	23265394	23265394	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:23265394G>A	ENST00000450802.3	+	19	1835	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	AC091565.1_ENST00000459619.1_RNA|RN7SL495P_ENST00000461817.2_RNA	NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	579	Golgi-targeting domain. {ECO:0000250}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)											TTTGTGAGGTGAGCCTCACCT	0.622																																																	0																																										SO:0001819	synonymous_variant	283796			AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.1737G>A	15.37:g.23265394G>A				Silent	SNP	NULL	p.V579	ENST00000450802.3	37	c.1737		15																																																																																			GOLGA8I	-	NULL		0.622	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GOLGA8I	HGNC	protein_coding	OTTHUMT00000251213.2	G	NR_024074		23265394	+1	no_errors	ENST00000450802	ensembl	human	known	70_37	silent	SNP	0.034	A
GPAA1	8733	genome.wustl.edu	37	8	145139176	145139176	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:145139176C>T	ENST00000355091.4	+	6	877	c.756C>T	c.(754-756)ctC>ctT	p.L252L	GPAA1_ENST00000361036.6_Silent_p.L192L|GPAA1_ENST00000527144.1_Intron	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	252					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGACCTGCTCAATCTCTTCC	0.632																																																	0													50.0	55.0	54.0					8																	145139176		2082	4204	6286	SO:0001819	synonymous_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.756C>T	8.37:g.145139176C>T			Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.L252	ENST00000355091.4	37	c.756	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.632	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	C	NM_003801		145139176	+1	no_errors	ENST00000355091	ensembl	human	known	70_37	silent	SNP	1.000	T
GPATCH3	63906	genome.wustl.edu	37	1	27223845	27223845	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27223845C>G	ENST00000361720.5	-	2	846	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	275	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCAGGCTCTCCACAGGGG	0.537																																																	0													180.0	179.0	179.0					1																	27223845		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.823G>C	1.37:g.27223845C>G	ENSP00000354645:p.Glu275Gln		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E275Q	ENST00000361720.5	37	c.823	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841022	0.16891	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.48522	0.81	4.65	1.57	0.23409	.	0.878054	0.09995	N	0.729153	T	0.31482	0.0798	L	0.35723	1.085	0.09310	N	1	B	0.24132	0.098	B	0.17433	0.018	T	0.20974	-1.0259	10	0.23302	T	0.38	-1.3208	3.7889	0.08712	0.3393:0.4771:0.0:0.1836	.	275	Q96I76	GPTC3_HUMAN	Q	275;257;86	ENSP00000354645:E275Q	ENSP00000354645:E275Q	E	-	1	0	GPATCH3	27096432	0.425000	0.25498	0.003000	0.11579	0.007000	0.05969	2.330000	0.43885	0.556000	0.29098	-0.181000	0.13052	GAG	GPATCH3	-	NULL		0.537	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27223845	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	0.100	G
GPR111	222611	genome.wustl.edu	37	6	47650408	47650408	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:47650408G>A	ENST00000296862.1	+	6	2113	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	GPR111_ENST00000507065.1_Missense_Mutation_p.E637K|GPR111_ENST00000398742.2_Intron			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	705					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAGAATTCATGAAGATGTTCT	0.418																																																	0													33.0	31.0	32.0					6																	47650408		1967	4166	6133	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.2113G>A	6.37:g.47650408G>A	ENSP00000296862:p.Glu705Lys		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E705K	ENST00000296862.1	37	c.2113		6	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007642	0.35415	.	.	ENSG00000164393	ENST00000507065;ENST00000296862	T;T	0.21932	2.12;1.98	5.22	3.44	0.39384	.	0.698966	0.12667	N	0.449100	T	0.03739	0.0106	.	.	.	0.22858	N	0.998644	B	0.15473	0.013	B	0.12156	0.007	T	0.44267	-0.9339	9	0.14252	T	0.57	.	9.9891	0.41860	0.1683:0.0:0.8317:0.0	.	705	Q8IZF7	GP111_HUMAN	K	637;705	ENSP00000422934:E637K;ENSP00000296862:E705K	ENSP00000296862:E705K	E	+	1	0	GPR111	47758367	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.094000	0.15107	0.706000	0.31912	-0.140000	0.14226	GAA	GPR111	-	NULL		0.418	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47650408	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	missense	SNP	0.044	A
GPR111	222611	genome.wustl.edu	37	6	47650411	47650411	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:47650411G>A	ENST00000296862.1	+	6	2116	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	GPR111_ENST00000507065.1_Missense_Mutation_p.D638N|GPR111_ENST00000398742.2_Intron			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	706					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AATTCATGAAGATGTTCTGTG	0.413																																																	0													32.0	30.0	30.0					6																	47650411		1971	4165	6136	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.2116G>A	6.37:g.47650411G>A	ENSP00000296862:p.Asp706Asn		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D706N	ENST00000296862.1	37	c.2116		6	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732736	0.30684	.	.	ENSG00000164393	ENST00000507065;ENST00000296862	T;T	0.27104	1.9;1.69	5.01	0.359	0.16088	.	1.848750	0.02977	N	0.145103	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.33954	-0.9848	9	0.62326	D	0.03	.	1.0932	0.01668	0.2209:0.3255:0.287:0.1666	.	706	Q8IZF7	GP111_HUMAN	N	638;706	ENSP00000422934:D638N;ENSP00000296862:D706N	ENSP00000296862:D706N	D	+	1	0	GPR111	47758370	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	1.031000	0.30165	0.201000	0.20466	-0.165000	0.13383	GAT	GPR111	-	NULL		0.413	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47650411	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	missense	SNP	0.000	A
GPR180	160897	genome.wustl.edu	37	13	95264620	95264620	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:95264620G>C	ENST00000376958.4	+	3	506	c.481G>C	c.(481-483)Gat>Cat	p.D161H		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	161					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GAATCCATTTGATCATTTTAG	0.328																																																	0													118.0	111.0	113.0					13																	95264620		2203	4300	6503	SO:0001583	missense	160897			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.481G>C	13.37:g.95264620G>C	ENSP00000366157:p.Asp161His		A8K1D5	Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk	p.D161H	ENST00000376958.4	37	c.481	CCDS9472.1	13	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492723	0.64074	.	.	ENSG00000152749	ENST00000376958	T	0.44482	0.92	5.28	4.44	0.53790	Rhodopsin-like GPCR transmembrane domain (1);	0.142496	0.64402	D	0.000007	T	0.60340	0.2261	M	0.62723	1.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.60840	-0.7183	10	0.42905	T	0.14	-5.9581	14.3708	0.66838	0.072:0.0:0.928:0.0	.	161	Q86V85	GP180_HUMAN	H	161	ENSP00000366157:D161H	ENSP00000366157:D161H	D	+	1	0	GPR180	94062621	1.000000	0.71417	0.885000	0.34714	0.895000	0.52256	6.344000	0.72991	1.357000	0.45904	-0.157000	0.13467	GAT	GPR180	-	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk		0.328	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	HGNC	protein_coding	OTTHUMT00000045465.3	G	NM_180989		95264620	+1	no_errors	ENST00000376958	ensembl	human	known	70_37	missense	SNP	0.997	C
GPR98	84059	genome.wustl.edu	37	5	90059175	90059175	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:90059175G>T	ENST00000405460.2	+	59	12270	c.12174G>T	c.(12172-12174)ttG>ttT	p.L4058F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4058	Calx-beta 27. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTGACATTGACGGTTGTCC	0.418																																																	0													66.0	62.0	63.0					5																	90059175		1858	4106	5964	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12174G>T	5.37:g.90059175G>T	ENSP00000384582:p.Leu4058Phe		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L4058F	ENST00000405460.2	37	c.12174	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168259	0.57476	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27720	1.65	5.21	0.813	0.18749	Na-Ca exchanger/integrin-beta4 (2);	0.068388	0.56097	D	0.000024	T	0.40473	0.1118	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.31110	-0.9955	10	0.48119	T	0.1	.	1.6233	0.02718	0.3168:0.23:0.3368:0.1164	.	4058	Q8WXG9	GPR98_HUMAN	F	4058	ENSP00000384582:L4058F	ENSP00000296619:L4058F	L	+	3	2	GPR98	90094931	0.976000	0.34144	0.991000	0.47740	0.990000	0.78478	0.038000	0.13862	0.198000	0.20407	0.563000	0.77884	TTG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90059175	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.970	T
GPS1	2873	genome.wustl.edu	37	17	80011073	80011073	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:80011073C>T	ENST00000306823.6	+	2	56				GPS1_ENST00000392358.2_Intron|GPS1_ENST00000320548.4_Intron|GPS1_ENST00000578552.1_Intron|RFNG_ENST00000310496.4_5'Flank|RFNG_ENST00000429557.3_5'Flank|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000355130.2_Intron			Q13098	CSN1_HUMAN	G protein pathway suppressor 1						cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAGCTGACCTCAGAGAACAGT	0.692																																																	0																																										SO:0001627	intron_variant	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.34-77C>T	17.37:g.80011073C>T			Q8NA10|Q9BWL1	RNA	SNP	-	NULL	ENST00000306823.6	37	NULL	CCDS32774.1	17																																																																																			GPS1	-	-		0.692	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	C	NM_212492		80011073	+1	no_errors	ENST00000584229	ensembl	human	putative	70_37	rna	SNP	0.000	T
GRIK3	2899	genome.wustl.edu	37	1	37337919	37337919	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:37337919C>T	ENST00000373091.3	-	4	618	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R201H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	201					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GATCTTCAGGCGGATGTTGTA	0.567																																																	0													107.0	89.0	95.0					1																	37337919		2203	4300	6503	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.602G>A	1.37:g.37337919C>T	ENSP00000362183:p.Arg201His		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R201H	ENST00000373091.3	37	c.602	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778993	0.70107	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.22134	1.97;1.97	5.22	5.22	0.72569	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.64997	1.995	0.53005	D	0.999966	D;D	0.63880	0.993;0.993	P;P	0.51866	0.682;0.682	T	0.04593	-1.0940	10	0.37606	T	0.19	.	18.7775	0.91916	0.0:1.0:0.0:0.0	.	201;201	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	201	ENSP00000362183:R201H;ENSP00000362185:R201H	ENSP00000362183:R201H	R	-	2	0	GRIK3	37110506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.970000	0.63742	2.460000	0.83146	0.561000	0.74099	CGC	GRIK3	-	pfam_ANF_lig-bd_rcpt		0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	C	NM_000831		37337919	-1	no_errors	ENST00000373091	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIN3A	116443	genome.wustl.edu	37	9	104499571	104499571	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:104499571C>G	ENST00000361820.3	-	1	1291	c.691G>C	c.(691-693)Gag>Cag	p.E231Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	231					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACCTGACTCTCCCGTGGAAAC	0.607																																																	0													48.0	43.0	44.0					9																	104499571		2203	4300	6503	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.691G>C	9.37:g.104499571C>G	ENSP00000355155:p.Glu231Gln		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.E231Q	ENST00000361820.3	37	c.691	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	9.193	1.026581	0.19512	.	.	ENSG00000198785	ENST00000361820	D	0.86297	-2.1	5.39	4.39	0.52855	.	0.874199	0.10146	N	0.710268	T	0.74749	0.3757	N	0.14661	0.345	0.28691	N	0.904603	B	0.11235	0.004	B	0.10450	0.005	T	0.62282	-0.6887	10	0.33940	T	0.23	.	4.8765	0.13658	0.0:0.395:0.4409:0.1641	.	231	Q8TCU5	NMD3A_HUMAN	Q	231	ENSP00000355155:E231Q	ENSP00000355155:E231Q	E	-	1	0	GRIN3A	103539392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.954000	0.40362	2.515000	0.84797	0.655000	0.94253	GAG	GRIN3A	-	NULL		0.607	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	C			104499571	-1	no_errors	ENST00000361820	ensembl	human	known	70_37	missense	SNP	1.000	G
GRK1	6011	genome.wustl.edu	37	13	114436031	114436031	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:114436031G>A	ENST00000335678.6	+	6	1601	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	GRK1_ENST00000545304.1_3'UTR	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	457	AGC-kinase C-terminal.|C-terminal.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCTCTTCAAGGACCTTAACTG	0.647																																																	0													54.0	64.0	61.0					13																	114436031		692	1591	2283	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.1369G>A	13.37:g.114436031G>A	ENSP00000334876:p.Asp457Asn		Q53X14	Missense_Mutation	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.D457N	ENST00000335678.6	37	c.1369		13	.	.	.	.	.	.	.	.	.	.	g	0.381	-0.928736	0.02359	.	.	ENSG00000185974	ENST00000335678;ENST00000545304	T;T	0.24908	1.84;1.83	4.49	2.71	0.32032	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.13756	0.0333	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.35847	-0.9772	8	0.15952	T	0.53	.	7.5476	0.27777	0.0958:0.1681:0.7362:0.0	.	457	Q15835	RK_HUMAN	N	457;73	ENSP00000334876:D457N;ENSP00000445619:D73N	ENSP00000334876:D457N	D	+	1	0	GRK1	.	0.000000	0.05858	0.049000	0.19019	0.337000	0.28794	0.680000	0.25306	0.325000	0.23359	0.478000	0.44815	GAC	GRK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C		0.647	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	G	NM_002929		114436031	+1	no_errors	ENST00000335678	ensembl	human	known	70_37	missense	SNP	0.025	A
GTPBP2	54676	genome.wustl.edu	37	6	43596854	43596854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:43596854C>A	ENST00000307126.5	-	1	45	c.46G>T	c.(46-48)Gga>Tga	p.G16*	GTPBP2_ENST00000476510.1_5'Flank|MAD2L1BP_ENST00000451025.2_5'Flank|GTPBP2_ENST00000307114.7_5'Flank	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGGCCCCCTCCGGGCCGGCAG	0.761																																					GBM(116;405 1620 28302 32150 44768)												0													6.0	8.0	8.0					6																	43596854		1980	3892	5872	SO:0001587	stop_gained	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.46G>T	6.37:g.43596854C>A	ENSP00000303997:p.Gly16*			Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.G16*	ENST00000307126.5	37	c.46	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990936	0.93106	.	.	ENSG00000172432	ENST00000307126;ENST00000452781	.	.	.	3.93	3.93	0.45458	.	0.528179	0.18125	N	0.150922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-1.6723	16.5119	0.84288	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000303997:G16X	G	-	1	0	GTPBP2	43704832	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.334000	0.43920	2.201000	0.70794	0.455000	0.32223	GGA	GTPBP2	-	NULL		0.761	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	C			43596854	-1	no_errors	ENST00000307126	ensembl	human	known	70_37	nonsense	SNP	0.999	A
GYG1	2992	genome.wustl.edu	37	3	148711992	148711992	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:148711992C>T	ENST00000345003.4	+	2	371	c.71C>T	c.(70-72)tCa>tTa	p.S24L	GYG1_ENST00000483267.1_Missense_Mutation_p.S24L|GYG1_ENST00000484197.1_Missense_Mutation_p.S24L|GYG1_ENST00000296048.6_Missense_Mutation_p.S24L	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	24					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTCCTGGGATCATCTCTGAAA	0.522																																																	0													72.0	69.0	70.0					3																	148711992		2203	4300	6503	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.71C>T	3.37:g.148711992C>T	ENSP00000340736:p.Ser24Leu		D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.S24L	ENST00000345003.4	37	c.71	CCDS3139.1	3	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195002	0.58017	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000461191	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.31	4.43	0.53597	.	0.200537	0.43919	N	0.000516	T	0.35682	0.0940	L	0.36672	1.1	0.47009	D	0.999281	B;B;B;B	0.17268	0.009;0.021;0.001;0.021	B;B;B;B	0.21546	0.024;0.035;0.005;0.023	T	0.12760	-1.0535	10	0.46703	T	0.11	-0.0049	13.9553	0.64144	0.0:0.9271:0.0:0.0729	.	24;24;24;24	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	L	24	ENSP00000340736:S24L;ENSP00000296048:S24L;ENSP00000419499:S24L;ENSP00000420683:S24L;ENSP00000420247:S24L	ENSP00000296048:S24L	S	+	2	0	GYG1	150194682	0.998000	0.40836	0.983000	0.44433	0.991000	0.79684	3.888000	0.56204	1.239000	0.43787	0.650000	0.86243	TCA	GYG1	-	pfam_Glyco_trans_8		0.522	GYG1-001	KNOWN	basic|CCDS	protein_coding	GYG1	HGNC	protein_coding	OTTHUMT00000356046.1	C	NM_004130		148711992	+1	no_errors	ENST00000345003	ensembl	human	known	70_37	missense	SNP	0.989	T
H1FNT	341567	genome.wustl.edu	37	12	48723250	48723250	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:48723250G>C	ENST00000335017.1	+	1	488	c.176G>C	c.(175-177)aGa>aCa	p.R59T		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	59					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TCCGTGCTCAGAGTGTCCCAG	0.622																																																	0													48.0	51.0	50.0					12																	48723250		2203	4300	6503	SO:0001583	missense	341567			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.176G>C	12.37:g.48723250G>C	ENSP00000334805:p.Arg59Thr		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	NULL	p.R59T	ENST00000335017.1	37	c.176	CCDS8762.1	12	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947079	0.34377	.	.	ENSG00000187166	ENST00000335017	T	0.20332	2.08	5.39	-8.12	0.01078	.	.	.	.	.	T	0.13543	0.0328	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.18871	0.023	T	0.39981	-0.9587	9	0.72032	D	0.01	-1.5534	14.5851	0.68317	0.1673:0.1189:0.7138:0.0	.	59	Q75WM6	H1FNT_HUMAN	T	59	ENSP00000334805:R59T	ENSP00000334805:R59T	R	+	2	0	H1FNT	47009517	0.702000	0.27816	0.009000	0.14445	0.001000	0.01503	0.179000	0.16840	-1.031000	0.03308	-2.084000	0.00378	AGA	H1FNT	-	NULL		0.622	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FNT	HGNC	protein_coding	OTTHUMT00000406516.1	G	NM_181788		48723250	+1	no_errors	ENST00000335017	ensembl	human	known	70_37	missense	SNP	0.039	C
H1FX-AS1	339942	genome.wustl.edu	37	3	129044099	129044099	+	RNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:129044099G>C	ENST00000383461.2	+	0	1631				H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA			Q4G0G2	H1AS1_HUMAN	H1FX antisense RNA 1																		CTGCTTTCCAGCAGCTGCGTC	0.567																																																	0																																												339942			AK091470		3q21.3	2012-10-12	2012-08-15	2011-08-16	ENSG00000206417	ENSG00000206417		"""Long non-coding RNAs"""	27953	non-coding RNA	RNA, long non-coding			"""chromosome 3 open reading frame 47"", ""H1FX antisense RNA 1 (non-protein coding)"""	C3orf47		14702039	Standard	NR_026991		Approved	FLJ34151	uc011bkv.1	Q4G0G2	OTTHUMG00000159459		3.37:g.129044099G>C				RNA	SNP	-	NULL	ENST00000383461.2	37	NULL		3																																																																																			H1FX-AS1	-	-		0.567	H1FX-AS1-001	KNOWN	basic	antisense	H1FX-AS1	HGNC	antisense	OTTHUMT00000355523.2	G	NR_026991		129044099	+1	no_errors	ENST00000383461	ensembl	human	known	70_37	rna	SNP	0.121	C
H6PD	9563	genome.wustl.edu	37	1	9324432	9324432	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:9324432C>G	ENST00000377403.2	+	5	2182	c.1880C>G	c.(1879-1881)tCa>tGa	p.S627*	H6PD_ENST00000602477.1_Nonsense_Mutation_p.S638*	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	627	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCCACTCTCAGACCCGGAG	0.667																																																	0													23.0	25.0	24.0					1																	9324432		2200	4294	6494	SO:0001587	stop_gained	9563			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1880C>G	1.37:g.9324432C>G	ENSP00000366620:p.Ser627*		Q4TT33|Q66I35|Q68DT3	Nonsense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.S627*	ENST00000377403.2	37	c.1880	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.885355	0.97068	.	.	ENSG00000049239	ENST00000377403	.	.	.	5.16	4.25	0.50352	.	0.348037	0.31697	N	0.007218	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-5.6549	13.6737	0.62440	0.0:0.8078:0.1922:0.0	.	.	.	.	X	627	.	ENSP00000366620:S627X	S	+	2	0	H6PD	9247019	0.001000	0.12720	0.072000	0.20136	0.248000	0.25809	0.852000	0.27764	1.194000	0.43101	0.561000	0.74099	TCA	H6PD	-	tigrfam_6-phosphogluconolactonase_DevB		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2	C	NM_004285		9324432	+1	no_errors	ENST00000377403	ensembl	human	known	70_37	nonsense	SNP	0.114	G
HAT1	8520	genome.wustl.edu	37	2	172823389	172823389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:172823389C>T	ENST00000264108.4	+	8	778	c.742C>T	c.(742-744)Caa>Taa	p.Q248*	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Nonsense_Mutation_p.Q163*	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	248	Acetyl-CoA binding. {ECO:0000269|PubMed:22615379}.				chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GACTCCATTTCAAGGTCAAGG	0.313																																																	0													95.0	92.0	93.0					2																	172823389		2203	4298	6501	SO:0001587	stop_gained	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.742C>T	2.37:g.172823389C>T	ENSP00000264108:p.Gln248*		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Nonsense_Mutation	SNP	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.Q248*	ENST00000264108.4	37	c.742	CCDS2245.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.589130	0.96590	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1621	20.0755	0.97742	0.0:1.0:0.0:0.0	.	.	.	.	X	163;248	.	ENSP00000264108:Q248X	Q	+	1	0	HAT1	172531635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.601000	0.82783	2.749000	0.94314	0.460000	0.39030	CAA	HAT1	-	superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su		0.313	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	C	NM_003642		172823389	+1	no_errors	ENST00000264108	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HAUS2	55142	genome.wustl.edu	37	15	42858847	42858847	+	Missense_Mutation	SNP	G	G	A	rs552797368		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42858847G>A	ENST00000260372.3	+	6	604	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	HAUS2_ENST00000568876.1_Missense_Mutation_p.E150K|RP11-265N6.2_ENST00000561902.1_RNA|RP11-265N6.2_ENST00000567089.1_RNA	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	181					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						GACTGAGACAGAAGAACTGGC	0.338																																																	0													83.0	85.0	84.0					15																	42858847		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.541G>A	15.37:g.42858847G>A	ENSP00000260372:p.Glu181Lys		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E181K	ENST00000260372.3	37	c.541	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.306624	0.95629	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.49720	0.77	5.85	5.85	0.93711	.	0.054165	0.64402	D	0.000001	T	0.70666	0.3250	M	0.77103	2.36	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.73142	-0.4076	10	0.87932	D	0	.	17.0848	0.86608	0.0:0.0:1.0:0.0	.	150;181	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	K	181;150	ENSP00000260372:E181K	ENSP00000260372:E181K	E	+	1	0	HAUS2	40646139	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.621000	0.67743	2.775000	0.95449	0.655000	0.94253	GAA	HAUS2	-	NULL		0.338	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42858847	+1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	1.000	A
HAUS2	55142	genome.wustl.edu	37	15	42858892	42858892	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42858892G>A	ENST00000260372.3	+	6	649	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	HAUS2_ENST00000568876.1_Missense_Mutation_p.E165K|RP11-265N6.2_ENST00000561902.1_RNA|RP11-265N6.2_ENST00000567089.1_RNA	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	196					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						ACAACAAAACGAAGTTTCGTC	0.343																																																	0													87.0	86.0	86.0					15																	42858892		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.586G>A	15.37:g.42858892G>A	ENSP00000260372:p.Glu196Lys		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E196K	ENST00000260372.3	37	c.586	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889164	0.52014	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.47869	0.83	6.05	6.05	0.98169	.	0.335624	0.29956	N	0.010776	T	0.45296	0.1335	M	0.72118	2.19	0.40274	D	0.978324	P;B	0.45283	0.855;0.219	B;B	0.29942	0.109;0.039	T	0.57093	-0.7870	10	0.59425	D	0.04	-0.0331	17.5254	0.87799	0.0:0.0:1.0:0.0	.	165;196	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	K	196;165	ENSP00000260372:E196K	ENSP00000260372:E196K	E	+	1	0	HAUS2	40646184	1.000000	0.71417	0.854000	0.33618	0.305000	0.27757	2.950000	0.49081	2.880000	0.98712	0.655000	0.94253	GAA	HAUS2	-	NULL		0.343	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42858892	+1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	0.999	A
HCLS1	3059	genome.wustl.edu	37	3	121350298	121350298	+	3'UTR	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:121350298G>T	ENST00000314583.3	-	0	1947				HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1						actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TGAACAGAAAGAAGGTTCAGA	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	3059				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.*395C>A	3.37:g.121350298G>T			B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	RNA	SNP	-	NULL	ENST00000314583.3	37	NULL	CCDS3003.1	3																																																																																			HCLS1	-	-		0.418	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	HGNC	protein_coding	OTTHUMT00000355144.1	G	NM_005335		121350298	-1	no_errors	ENST00000473883	ensembl	human	known	70_37	rna	SNP	0.361	T
HEATR1	55127	genome.wustl.edu	37	1	236748383	236748383	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:236748383C>G	ENST00000366582.3	-	17	2297	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T	HEATR1_ENST00000366581.2_Missense_Mutation_p.R728T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	728					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.R728K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGAAGACTCTTATCGCAAA	0.378																																																	1	Substitution - Missense(1)	breast(1)											107.0	108.0	107.0					1																	236748383		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2183G>C	1.37:g.236748383C>G	ENSP00000355541:p.Arg728Thr		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.R728T	ENST00000366582.3	37	c.2183	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441933	0.63067	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.08;-0.19	6.08	4.18	0.49190	Armadillo-type fold (1);	0.178052	0.64402	D	0.000011	T	0.55162	0.1903	L	0.56769	1.78	0.80722	D	1	B	0.21225	0.053	B	0.17722	0.019	T	0.49184	-0.8966	10	0.30078	T	0.28	.	10.0229	0.42055	0.0:0.737:0.0:0.263	.	728	Q9H583	HEAT1_HUMAN	T	728	ENSP00000355541:R728T;ENSP00000355540:R728T	ENSP00000355540:R728T	R	-	2	0	HEATR1	234815006	0.999000	0.42202	0.975000	0.42487	0.642000	0.38348	1.196000	0.32198	0.865000	0.35603	0.591000	0.81541	AGA	HEATR1	-	superfamily_ARM-type_fold		0.378	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236748383	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.989	G
HEATR4	399671	genome.wustl.edu	37	14	73945450	73945450	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:73945450C>A	ENST00000553558.1	-	18	3263	c.2942G>T	c.(2941-2943)cGc>cTc	p.R981L	HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.R934L|HEATR4_ENST00000334988.2_Missense_Mutation_p.R981L|RP1-240K6.3_ENST00000515412.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	981										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGGGGAGGTGCGTAGATCTTT	0.488																																																	0													147.0	131.0	136.0					14																	73945450		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2942G>T	14.37:g.73945450C>A	ENSP00000450444:p.Arg981Leu		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R981L	ENST00000553558.1	37	c.2942	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844104	0.51164	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.30182	1.54	4.37	2.45	0.29901	.	0.506627	0.17645	N	0.166868	T	0.27134	0.0665	L	0.27053	0.805	0.25848	N	0.983979	D	0.53619	0.961	P	0.51453	0.67	T	0.06232	-1.0838	10	0.72032	D	0.01	-5.3851	5.8353	0.18602	0.0:0.7476:0.0:0.2524	.	981	Q86WZ0	HEAT4_HUMAN	L	981;934	ENSP00000450444:R981L	ENSP00000335447:R934L	R	-	2	0	HEATR4	73015203	0.684000	0.27642	0.857000	0.33713	0.279000	0.26890	0.507000	0.22675	0.717000	0.32145	0.449000	0.29647	CGC	HEATR4	-	NULL		0.488	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73945450	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.882	A
HEATR4	399671	genome.wustl.edu	37	14	73945457	73945457	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:73945457C>T	ENST00000553558.1	-	18	3256	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N	HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.D932N|HEATR4_ENST00000334988.2_Missense_Mutation_p.D979N|RP1-240K6.3_ENST00000515412.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	979										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTGCGTAGATCTTTGACAAGT	0.483																																																	0													154.0	136.0	142.0					14																	73945457		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2935G>A	14.37:g.73945457C>T	ENSP00000450444:p.Asp979Asn		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D979N	ENST00000553558.1	37	c.2935	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	12.50	1.958031	0.34565	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.27720	1.65	4.37	2.45	0.29901	.	0.664722	0.14036	N	0.345767	T	0.18509	0.0444	L	0.27053	0.805	0.23886	N	0.996565	B	0.17667	0.023	B	0.15052	0.012	T	0.18808	-1.0325	10	0.29301	T	0.29	-7.0542	5.8353	0.18602	0.0:0.7476:0.0:0.2524	.	979	Q86WZ0	HEAT4_HUMAN	N	979;932	ENSP00000450444:D979N	ENSP00000335447:D932N	D	-	1	0	HEATR4	73015210	0.979000	0.34478	0.992000	0.48379	0.334000	0.28698	0.951000	0.29135	0.717000	0.32145	0.449000	0.29647	GAT	HEATR4	-	NULL		0.483	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73945457	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.996	T
HEATR5A	25938	genome.wustl.edu	37	14	31858053	31858053	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:31858053G>C	ENST00000389961.3	-	6	912	c.913C>G	c.(913-915)Cag>Gag	p.Q305E	HEATR5A_ENST00000404677.3_Missense_Mutation_p.Q311E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.Q305E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.Q311E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.Q18E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	305										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATTCCAACCTGAGTAACTCCA	0.438																																																	0													193.0	170.0	178.0					14																	31858053		1894	4122	6016	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.913C>G	14.37:g.31858053G>C	ENSP00000374611:p.Gln305Glu		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q305E	ENST00000389961.3	37	c.913		14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562777	0.86335	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.74674	0.984	T	0.00230	-1.1897	10	0.48119	T	0.1	.	19.2773	0.94038	0.0:0.0:1.0:0.0	.	311	B5MC49	.	E	305;305;18;311;311	ENSP00000374611:Q305E;ENSP00000405407:Q305E;ENSP00000408681:Q18E;ENSP00000437968:Q311E;ENSP00000384646:Q311E	ENSP00000374611:Q305E	Q	-	1	0	HEATR5A	30927804	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.429000	0.97481	2.556000	0.86216	0.491000	0.48974	CAG	HEATR5A	-	superfamily_ARM-type_fold		0.438	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		G	NM_015473		31858053	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	missense	SNP	1.000	C
HEATR4	399671	genome.wustl.edu	37	14	73974859	73974859	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:73974859C>T	ENST00000553558.1	-	9	2181	c.1860G>A	c.(1858-1860)ctG>ctA	p.L620L	HEATR4_ENST00000560393.1_Silent_p.L573L|HEATR4_ENST00000334988.2_Silent_p.L620L	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	620										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCAGATAGCTCAGGAGGATAT	0.448																																																	0													149.0	135.0	140.0					14																	73974859		2203	4300	6503	SO:0001819	synonymous_variant	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1860G>A	14.37:g.73974859C>T			B7Z7V9|E9KL41	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L620	ENST00000553558.1	37	c.1860	CCDS9815.2	14																																																																																			HEATR4	-	superfamily_ARM-type_fold		0.448	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73974859	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	silent	SNP	0.999	T
HERC2P4	100289574	genome.wustl.edu	37	16	32163483	32163483	+	IGR	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:32163483G>A								RP11-1166P10.6 (67377 upstream) : HERC2P4 (17821 downstream)																							GCATGTCAGAGAACTGCACGG	0.512																																																	0																																										SO:0001628	intergenic_variant	100289574																															16.37:g.32163483G>A				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	0	0.512					HERC2P4	HGNC			G			32163483	-1	no_errors	ENST00000563904	ensembl	human	known	70_37	rna	SNP	1.000	A
HGF	3082	genome.wustl.edu	37	7	81374376	81374376	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:81374376C>G	ENST00000222390.5	-	6	912	c.686G>C	c.(685-687)gGc>gCc	p.G229A	HGF_ENST00000457544.2_Missense_Mutation_p.G224A|HGF_ENST00000453411.1_Missense_Mutation_p.G224A|HGF_ENST00000444829.2_Missense_Mutation_p.G229A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	229	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACAAATCTTGCCTGATTCTGT	0.388																																																	0													91.0	86.0	88.0					7																	81374376		2203	4300	6503	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.686G>C	7.37:g.81374376C>G	ENSP00000222390:p.Gly229Ala		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G229A	ENST00000222390.5	37	c.686	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601990	0.87055	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.73	4.73	0.59995	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98965	4.385	0.80722	D	1	P;D;B;D	0.71674	0.857;0.998;0.303;0.974	B;P;B;P	0.59948	0.254;0.866;0.053;0.727	D	0.96127	0.9089	10	0.87932	D	0	.	18.2555	0.90019	0.0:1.0:0.0:0.0	.	224;229;224;229	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	A	229;224;229;224;229	ENSP00000222390:G229A;ENSP00000391238:G224A;ENSP00000389854:G229A;ENSP00000408270:G224A	ENSP00000222390:G229A	G	-	2	0	HGF	81212312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.940000	0.75917	2.609000	0.88269	0.655000	0.94253	GGC	HGF	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.388	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81374376	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	G
HGF	3082	genome.wustl.edu	37	7	81388032	81388032	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:81388032C>G	ENST00000222390.5	-	3	569	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q	HGF_ENST00000457544.2_Missense_Mutation_p.E115Q|HGF_ENST00000453411.1_Missense_Mutation_p.E115Q|HGF_ENST00000423064.2_Missense_Mutation_p.E115Q|HGF_ENST00000444829.2_Missense_Mutation_p.E115Q|HGF_ENST00000354224.6_Missense_Mutation_p.E115Q|HGF_ENST00000453018.1_Missense_Mutation_p.E12Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	115	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGGTCAAATTCATGGCCAAAT	0.333																																																	0													104.0	103.0	103.0					7																	81388032		2203	4299	6502	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.343G>C	7.37:g.81388032C>G	ENSP00000222390:p.Glu115Gln		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E115Q	ENST00000222390.5	37	c.343	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233413	0.22626	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881;ENST00000421558	T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;0.02;-0.06;-0.06	5.16	4.26	0.50523	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	0.297471	0.36972	N	0.002313	T	0.48714	0.1515	L	0.36672	1.1	0.27973	N	0.936317	D;P;P;P;P	0.56521	0.976;0.716;0.811;0.933;0.889	P;B;B;B;B	0.45138	0.471;0.255;0.206;0.295;0.414	T	0.41305	-0.9516	10	0.25751	T	0.34	.	5.2569	0.15552	0.1502:0.6275:0.145:0.0773	.	150;115;115;115;115	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	Q	115;115;115;115;115;115;115;12;115;115	ENSP00000222390:E115Q;ENSP00000391238:E115Q;ENSP00000389854:E115Q;ENSP00000408270:E115Q;ENSP00000413829:E115Q;ENSP00000346164:E115Q;ENSP00000395468:E12Q;ENSP00000396307:E115Q;ENSP00000388592:E115Q	ENSP00000222390:E115Q	E	-	1	0	HGF	81225968	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.858000	0.39408	1.131000	0.42111	0.467000	0.42956	GAA	HGF	-	pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app		0.333	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81388032	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12121938	12121938	+	Missense_Mutation	SNP	C	C	G	rs369522683		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:12121938C>G	ENST00000379388.2	+	4	2242	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	637					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGCAAGACTCTCACGTAGGA	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22053	0.0		0.0	False		,,,				2504	0.0																0								C	CYS/SER	6,3988		0,6,1991	66.0	64.0	65.0		1910	-0.6	0.0	6		65	0,8354		0,0,4177	no	missense	HIVEP1	NM_002114.2	112	0,6,6168	GG,GC,CC		0.0,0.1502,0.0486	probably-damaging	637/2719	12121938	6,12342	1997	4177	6174	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1910C>G	6.37:g.12121938C>G	ENSP00000368698:p.Ser637Cys		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S637C	ENST00000379388.2	37	c.1910	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111779	0.37242	0.001502	0.0	ENSG00000095951	ENST00000379388	T	0.44482	0.92	5.92	-0.606	0.11619	.	0.735517	0.11228	N	0.585980	T	0.21186	0.0510	M	0.62723	1.935	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.41270	-0.9518	9	.	.	.	-0.6128	15.7775	0.78236	0.0:0.3149:0.6253:0.0598	.	637	P15822	ZEP1_HUMAN	C	637	ENSP00000368698:S637C	.	S	+	2	0	HIVEP1	12229924	0.004000	0.15560	0.000000	0.03702	0.185000	0.23345	1.707000	0.37888	-0.142000	0.11354	-0.176000	0.13171	TCT	HIVEP1	-	NULL		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	C	NM_002114		12121938	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.000	G
HIST1H3B	8358	genome.wustl.edu	37	6	26032045	26032045	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:26032045C>T	ENST00000244661.2	-	1	243	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	82					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AAGCGAAGATCGGTCTTGAAG	0.582																																																	0													74.0	77.0	76.0					6																	26032045		2203	4300	6503	SO:0001583	missense	8358			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.244G>A	6.37:g.26032045C>T	ENSP00000244661:p.Asp82Asn		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.D82N	ENST00000244661.2	37	c.244	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	17.72	3.460060	0.63401	.	.	ENSG00000124693	ENST00000244661	T	0.47869	0.83	5.24	5.24	0.73138	.	.	.	.	.	T	0.61135	0.2323	.	.	.	0.46981	D	0.999276	.	.	.	.	.	.	T	0.65598	-0.6129	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000244661:D82N	ENSP00000244661:D82N	D	-	1	0	HIST1H3B	26140024	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	GAT	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.582	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	C	NM_003537		26032045	-1	no_errors	ENST00000244661	ensembl	human	known	70_37	missense	SNP	1.000	T
HK2	3099	genome.wustl.edu	37	2	75107555	75107555	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:75107555C>G	ENST00000290573.2	+	10	2029	c.1429C>G	c.(1429-1431)Ctg>Gtg	p.L477V	HK2_ENST00000409174.1_Missense_Mutation_p.L449V	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	477	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATTAGAGCATCTGCAGCTGAG	0.592																																																	0													77.0	74.0	75.0					2																	75107555		2203	4300	6503	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1429C>G	2.37:g.75107555C>G	ENSP00000290573:p.Leu477Val		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.L477V	ENST00000290573.2	37	c.1429	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492631	0.12702	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98792	-5.14;-5.14	5.08	2.29	0.28610	Hexokinase, N-terminal (1);	0.132550	0.52532	D	0.000062	D	0.96756	0.8941	M	0.79475	2.455	0.48696	D	0.99969	P	0.38280	0.625	B	0.34931	0.192	D	0.93630	0.6955	10	0.72032	D	0.01	-14.4903	3.9375	0.09311	0.1672:0.5743:0.0:0.2585	.	477	P52789	HXK2_HUMAN	V	477;477;449	ENSP00000290573:L477V;ENSP00000387140:L449V	ENSP00000290573:L477V	L	+	1	2	HK2	74961063	0.537000	0.26386	0.393000	0.26258	0.004000	0.04260	1.134000	0.31442	0.403000	0.25479	-0.126000	0.14955	CTG	HK2	-	pfam_Hexokinase_N		0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	C	NM_000189		75107555	+1	no_errors	ENST00000290573	ensembl	human	known	70_37	missense	SNP	0.733	G
HLA-A	3105	genome.wustl.edu	37	6	29910797	29910797	+	Nonsense_Mutation	SNP	G	G	T	rs41559912		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:29910797G>T	ENST00000396634.1	+	4	678	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E113*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	113	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAACCAGAGCGAGGCCGGTGA	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													40.0	43.0	42.0					6																	29910797		2200	4292	6492	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.337G>T	6.37:g.29910797G>T	ENSP00000379873:p.Glu113*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E113*	ENST00000396634.1	37	c.337	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	35	5.433768	0.96150	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.375	0.32438	0.0:0.2432:0.7568:0.0	.	.	.	.	X	113	.	ENSP00000348012:E113X	E	+	1	0	HLA-A	30018776	0.032000	0.19561	0.853000	0.33588	0.049000	0.14656	0.398000	0.20899	2.030000	0.59900	0.478000	0.44815	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910797	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.722	T
HMCN1	83872	genome.wustl.edu	37	1	186141187	186141187	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:186141187G>A	ENST00000271588.4	+	102	15967	c.15738G>A	c.(15736-15738)aaG>aaA	p.K5246K	HMCN1_ENST00000367492.2_Silent_p.K5246K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5246	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACTGTAAGAACACCCGTG	0.388																																																	0													146.0	134.0	138.0					1																	186141187		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15738G>A	1.37:g.186141187G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K5246	ENST00000271588.4	37	c.15738	CCDS30956.1	1																																																																																			HMCN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186141187	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	silent	SNP	1.000	A
HMG20A	10363	genome.wustl.edu	37	15	77771569	77771569	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:77771569G>C	ENST00000381714.3	+	10	1384	c.956G>C	c.(955-957)aGa>aCa	p.R319T	HMG20A_ENST00000336216.4_Missense_Mutation_p.R319T	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	319					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TATATGAACAGACTGCACAGT	0.403																																																	0													148.0	149.0	149.0					15																	77771569		2196	4294	6490	SO:0001583	missense	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.956G>C	15.37:g.77771569G>C	ENSP00000371133:p.Arg319Thr		A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R319T	ENST00000381714.3	37	c.956	CCDS10295.1	15	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868293	0.72065	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.68903	-0.36;-0.36	6.04	6.04	0.98038	.	0.041567	0.85682	D	0.000000	T	0.74176	0.3682	M	0.65975	2.015	0.49915	D	0.999831	P	0.47910	0.902	P	0.47626	0.552	T	0.75733	-0.3214	10	0.66056	D	0.02	-14.0776	20.5948	0.99439	0.0:0.0:1.0:0.0	.	319	Q9NP66	HM20A_HUMAN	T	319	ENSP00000336856:R319T;ENSP00000371133:R319T	ENSP00000336856:R319T	R	+	2	0	HMG20A	75558624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.943000	0.75934	2.873000	0.98535	0.563000	0.77884	AGA	HMG20A	-	NULL		0.403	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	G	NM_018200		77771569	+1	no_errors	ENST00000336216	ensembl	human	known	70_37	missense	SNP	1.000	C
HMOX1	3162	genome.wustl.edu	37	22	35789553	35789553	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:35789553C>G	ENST00000216117.8	+	5	1168	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	277					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	ACTCAGCTTTCTGGTGGCGAC	0.577																																																	0													144.0	139.0	141.0					22																	35789553		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.829C>G	22.37:g.35789553C>G	ENSP00000216117:p.Leu277Val			Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.L277V	ENST00000216117.8	37	c.829	CCDS13914.1	22	.	.	.	.	.	.	.	.	.	.	C	2.967	-0.213220	0.06140	.	.	ENSG00000100292	ENST00000216117	T	0.17854	2.25	5.57	-1.03	0.10102	.	0.500288	0.21424	N	0.074778	T	0.10680	0.0261	L	0.60455	1.87	0.19300	N	0.999975	B	0.11235	0.004	B	0.09377	0.004	T	0.41088	-0.9528	10	0.05833	T	0.94	-10.35	3.8077	0.08783	0.1508:0.5185:0.1826:0.148	.	277	P09601	HMOX1_HUMAN	V	277	ENSP00000216117:L277V	ENSP00000216117:L277V	L	+	1	2	HMOX1	34119553	0.039000	0.19947	0.819000	0.32651	0.251000	0.25915	-0.434000	0.06939	0.037000	0.15575	0.591000	0.81541	CTG	HMOX1	-	NULL		0.577	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX1	HGNC	protein_coding	OTTHUMT00000320657.1	C			35789553	+1	no_errors	ENST00000216117	ensembl	human	known	70_37	missense	SNP	0.186	G
HNRNPU	3192	genome.wustl.edu	37	1	245020903	245020903	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:245020903C>T	ENST00000283179.9	-	8	1774	c.1611G>A	c.(1609-1611)atG>atA	p.M537I	HNRNPU_ENST00000444376.2_Missense_Mutation_p.M518I|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	537					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TACTTACCATCATCTTATCCA	0.423																																					NSCLC(33;911 1010 3329 23631 49995)												0													195.0	199.0	197.0					1																	245020903		2203	4300	6503	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1611G>A	1.37:g.245020903C>T	ENSP00000283179:p.Met537Ile		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.M537I	ENST00000283179.9	37	c.1611	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.245804	0.95272	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.42131	0.98;0.98	5.85	5.85	0.93711	.	0.071197	0.85682	N	0.000000	T	0.64193	0.2576	M	0.77313	2.365	0.80722	D	1	B;D;D;P	0.55172	0.267;0.97;0.97;0.483	B;P;P;B	0.57548	0.086;0.729;0.823;0.174	T	0.66052	-0.6019	10	0.66056	D	0.02	-11.545	20.1707	0.98158	0.0:1.0:0.0:0.0	.	462;518;537;261	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	I	518;537;462	ENSP00000393151:M518I;ENSP00000283179:M537I	ENSP00000283179:M537I	M	-	3	0	HNRNPU	243087526	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.378000	0.79679	2.770000	0.95276	0.557000	0.71058	ATG	HNRNPU	-	pfam_Zeta_toxin_domain		0.423	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	C	NM_031844		245020903	-1	no_errors	ENST00000283179	ensembl	human	known	70_37	missense	SNP	1.000	T
HOMER3	9454	genome.wustl.edu	37	19	19040315	19040315	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:19040315G>C	ENST00000539827.1	-	9	1675	c.1023C>G	c.(1021-1023)gtC>gtG	p.V341V	HOMER3_ENST00000433218.2_Silent_p.V338V|HOMER3_ENST00000594439.1_Silent_p.V305V|HOMER3_ENST00000594794.1_Silent_p.V132V|HOMER3_ENST00000355887.6_Silent_p.V338V|HOMER3_ENST00000392351.3_Silent_p.V341V|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000542541.2_Silent_p.V341V|HOMER3_ENST00000221222.11_Silent_p.V338V			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	341					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CAAACAGGCTGACGTCCAGCA	0.711																																																	0													9.0	9.0	9.0					19																	19040315		2162	4223	6385	SO:0001819	synonymous_variant	9454			Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.1023C>G	19.37:g.19040315G>C			E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Silent	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.V341	ENST00000539827.1	37	c.1023	CCDS12391.1	19																																																																																			HOMER3	-	NULL		0.711	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HOMER3	HGNC	protein_coding	OTTHUMT00000464607.1	G			19040315	-1	no_errors	ENST00000392351	ensembl	human	known	70_37	silent	SNP	0.963	C
HOXC12	3228	genome.wustl.edu	37	12	54350313	54350313	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:54350313G>C	ENST00000243103.3	+	2	908	c.812G>C	c.(811-813)aGa>aCa	p.R271T	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	271					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R271T(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AAAAAGAAAAGACTTCTGTTG	0.542																																																	1	Substitution - Missense(1)	lung(1)											86.0	94.0	91.0					12																	54350313		2203	4300	6503	SO:0001583	missense	3228			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.812G>C	12.37:g.54350313G>C	ENSP00000243103:p.Arg271Thr		Q9BXJ6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R271T	ENST00000243103.3	37	c.812	CCDS8866.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995955	0.74703	.	.	ENSG00000123407	ENST00000243103	D	0.96522	-4.04	4.2	4.2	0.49525	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	U	0.000001	D	0.98520	0.9506	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99771	1.1024	10	0.87932	D	0	.	15.6972	0.77509	0.0:0.0:1.0:0.0	.	271	P31275	HXC12_HUMAN	T	271	ENSP00000243103:R271T	ENSP00000243103:R271T	R	+	2	0	HOXC12	52636580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.430000	0.97488	2.052000	0.61016	0.462000	0.41574	AGA	HOXC12	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.542	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXC12	HGNC	protein_coding	OTTHUMT00000358868.2	G	NM_173860		54350313	+1	no_errors	ENST00000243103	ensembl	human	known	70_37	missense	SNP	1.000	C
HPS1	3257	genome.wustl.edu	37	10	100177236	100177236	+	3'UTR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:100177236G>C	ENST00000325103.6	-	0	2421				HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_3'UTR|PYROXD2_ENST00000370575.4_5'Flank	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1						blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGCCACTGCAGACAGGAGGCT	0.612									Hermansky-Pudlak syndrome																																								0																																										SO:0001624	3_prime_UTR_variant	3257	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.*85C>G	10.37:g.100177236G>C			A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	RNA	SNP	-	NULL	ENST00000325103.6	37	NULL	CCDS7475.1	10																																																																																			HPS1	-	-		0.612	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	G	NM_000195, NM_182637, NM_182638, NM_182639		100177236	-1	no_errors	ENST00000467246	ensembl	human	known	70_37	rna	SNP	0.000	C
HSP90AA1	3320	genome.wustl.edu	37	14	102552357	102552357	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:102552357G>A	ENST00000216281.8	-	3	472	c.267C>T	c.(265-267)ctC>ctT	p.L89L	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Silent_p.L211L	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	89					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CCACAATAGTGAGAGTTCGAT	0.428																																																	0													92.0	91.0	91.0					14																	102552357		2203	4300	6503	SO:0001819	synonymous_variant	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.267C>T	14.37:g.102552357G>A			A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.L211	ENST00000216281.8	37	c.633	CCDS9967.1	14																																																																																			HSP90AA1	-	pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N		0.428	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	G	NM_005348		102552357	-1	no_errors	ENST00000334701	ensembl	human	known	70_37	silent	SNP	0.984	A
HTR3D	200909	genome.wustl.edu	37	3	183754187	183754187	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:183754187C>T	ENST00000382489.3	+	4	405	c.405C>T	c.(403-405)ctC>ctT	p.L135L	HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Silent_p.L74L|HTR3D_ENST00000334128.2_5'UTR	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	135					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CTGCAGGTCTCATGGCTAGTA	0.507																																																	0													121.0	95.0	103.0					3																	183754187		2203	4300	6503	SO:0001819	synonymous_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.405C>T	3.37:g.183754187C>T			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L135	ENST00000382489.3	37	c.405	CCDS54685.1	3																																																																																			HTR3D	-	superfamily_Neur_chan_lig-bd		0.507	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183754187	+1	no_errors	ENST00000382489	ensembl	human	known	70_37	silent	SNP	0.901	T
HTR5A	3361	genome.wustl.edu	37	7	154863129	154863129	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:154863129C>T	ENST00000287907.2	+	1	1096	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	174					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGTCATCTCTCTGGCCCCGCT	0.627																																																	0													91.0	69.0	77.0					7																	154863129		2203	4300	6503	SO:0001819	synonymous_variant	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.520C>T	7.37:g.154863129C>T			Q2M2D2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.L174	ENST00000287907.2	37	c.520	CCDS5936.1	7																																																																																			HTR5A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	HGNC	protein_coding	OTTHUMT00000322240.1	C	NM_024012		154863129	+1	no_errors	ENST00000287907	ensembl	human	known	70_37	silent	SNP	0.978	T
HTR6	3362	genome.wustl.edu	37	1	19992919	19992919	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:19992919C>T	ENST00000289753.1	+	1	1140	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	225					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GGTGGCCTCCCTCACCACCGG	0.667																																					Esophageal Squamous(168;1879 2619 6848 21062)												0													20.0	21.0	21.0					1																	19992919		2202	4298	6500	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.673C>T	1.37:g.19992919C>T	ENSP00000289753:p.Leu225Phe		Q13640|Q5TGZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn	p.L225F	ENST00000289753.1	37	c.673	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643996	0.47258	.	.	ENSG00000158748	ENST00000289753	T	0.72725	-0.68	4.07	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.242590	0.35677	N	0.003058	T	0.66458	0.2791	M	0.75777	2.31	0.27400	N	0.954876	B	0.27316	0.175	B	0.29524	0.103	T	0.58538	-0.7619	9	.	.	.	.	7.4257	0.27098	0.0:0.7953:0.0:0.2047	.	225	P50406	5HT6R_HUMAN	F	225	ENSP00000289753:L225F	.	L	+	1	0	HTR6	19865506	0.984000	0.35163	1.000000	0.80357	0.919000	0.55068	3.027000	0.49697	0.853000	0.35312	0.491000	0.48974	CTC	HTR6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt		0.667	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	HGNC	protein_coding	OTTHUMT00000007704.1	C	NM_000871		19992919	+1	no_errors	ENST00000289753	ensembl	human	known	70_37	missense	SNP	1.000	T
IGFN1	91156	genome.wustl.edu	37	1	201195081	201195081	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:201195081C>T	ENST00000335211.4	+	22	10746	c.10616C>T	c.(10615-10617)tCa>tTa	p.S3539L	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1082						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACACGCTCCTCAGCGCACGGT	0.667																																																	0													78.0	62.0	68.0					1																	201195081		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10616C>T	1.37:g.201195081C>T	ENSP00000334714:p.Ser3539Leu		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S3539L	ENST00000335211.4	37	c.10616	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817146	0.32145	.	.	ENSG00000163395	ENST00000335211	T	0.56941	0.43	5.0	4.1	0.47936	.	0.291488	0.34178	N	0.004190	T	0.51652	0.1687	L	0.39898	1.24	0.80722	D	1	P	0.41546	0.754	P	0.47673	0.554	T	0.55347	-0.8155	10	0.66056	D	0.02	.	11.8407	0.52353	0.0:0.9191:0.0:0.0809	.	3539	F8WAI1	.	L	3539	ENSP00000334714:S3539L	ENSP00000334714:S3539L	S	+	2	0	IGFN1	199461704	0.999000	0.42202	0.506000	0.27664	0.031000	0.12232	4.195000	0.58400	1.350000	0.45770	0.561000	0.74099	TCA	IGFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.667	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		C	NM_178275		201195081	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.998	T
IARS2	55699	genome.wustl.edu	37	1	220320875	220320875	+	Silent	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:220320875C>A	ENST00000302637.5	+	23	3041	c.2937C>A	c.(2935-2937)gtC>gtA	p.V979V	IARS2_ENST00000366922.1_Silent_p.V907V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	979					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAGTAATTGTCATGCCGACTA	0.388																																																	0													109.0	114.0	112.0					1																	220320875		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2937C>A	1.37:g.220320875C>A			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.V979	ENST00000302637.5	37	c.2937	CCDS1523.1	1																																																																																			IARS2	-	superfamily_tRNAsynth_1a_anticodon-bd		0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		C	NM_018060		220320875	+1	no_errors	ENST00000302637	ensembl	human	known	70_37	silent	SNP	0.925	A
IL15	3600	genome.wustl.edu	37	4	142643137	142643137	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:142643137G>C	ENST00000296545.7	+	5	1015	c.171G>C	c.(169-171)ttG>ttC	p.L57F	IL15_ENST00000394159.1_Missense_Mutation_p.L30F|IL15_ENST00000529613.1_Missense_Mutation_p.L57F|IL15_ENST00000514653.1_Missense_Mutation_p.L30F|IL15_ENST00000477265.1_Missense_Mutation_p.L30F|IL15_ENST00000320650.4_Missense_Mutation_p.L57F			P40933	IL15_HUMAN	interleukin 15	57					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TAAGTGATTTGAAAAAAATTG	0.373																																					Pancreas(10;184 986 25902)												0													83.0	88.0	86.0					4																	142643137		2203	4300	6503	SO:0001583	missense	3600			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.171G>C	4.37:g.142643137G>C	ENSP00000296545:p.Leu57Phe		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15	p.L57F	ENST00000296545.7	37	c.171	CCDS3755.1	4	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104778	0.37145	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.06	4.2	0.49525	.	0.000000	0.49916	D	0.000124	T	0.67683	0.2919	M	0.82923	2.615	0.29624	N	0.845935	D	0.89917	1.0	D	0.97110	1.0	T	0.66006	-0.6030	9	0.87932	D	0	.	9.9628	0.41706	0.0998:0.0:0.9002:0.0	.	57	P40933	IL15_HUMAN	F	57;57;30;57;30;30	.	ENSP00000296545:L57F	L	+	3	2	IL15	142862587	0.804000	0.28969	0.147000	0.22382	0.261000	0.26267	0.904000	0.28491	2.501000	0.84356	0.655000	0.94253	TTG	IL15	-	pfam_Interleukin_15-like		0.373	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL15	HGNC	protein_coding	OTTHUMT00000257278.2	G	NM_172175		142643137	+1	no_errors	ENST00000296545	ensembl	human	known	70_37	missense	SNP	0.612	C
IL17RB	55540	genome.wustl.edu	37	3	53899116	53899116	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:53899116C>G	ENST00000288167.3	+	11	1299	c.1290C>G	c.(1288-1290)ttC>ttG	p.F430L		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	430	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.			Missing (in Ref. 2; AA sequence). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TTAACCTTTTCTGCAGTGATC	0.478																																																	0													96.0	87.0	90.0					3																	53899116		2203	4300	6503	SO:0001583	missense	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1290C>G	3.37:g.53899116C>G	ENSP00000288167:p.Phe430Leu		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	pfam_SEFIR	p.F430L	ENST00000288167.3	37	c.1290	CCDS2874.1	3	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822473	0.32237	.	.	ENSG00000056736	ENST00000288167	T	0.28666	1.6	5.65	2.4	0.29515	SEFIR (1);	0.195054	0.35870	N	0.002938	T	0.29556	0.0737	M	0.68317	2.08	0.37600	D	0.920509	B	0.24618	0.107	B	0.26693	0.072	T	0.10543	-1.0625	10	0.40728	T	0.16	-13.054	7.8802	0.29618	0.0:0.6905:0.0:0.3095	.	430	Q9NRM6	I17RB_HUMAN	L	430	ENSP00000288167:F430L	ENSP00000288167:F430L	F	+	3	2	IL17RB	53874156	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.882000	0.28186	0.160000	0.19432	-0.145000	0.13849	TTC	IL17RB	-	pfam_SEFIR		0.478	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RB	HGNC	protein_coding	OTTHUMT00000350563.1	C	NM_172234		53899116	+1	no_errors	ENST00000288167	ensembl	human	known	70_37	missense	SNP	1.000	G
IL17RD	54756	genome.wustl.edu	37	3	57148770	57148770	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:57148770G>A	ENST00000296318.7	-	3	348	c.260C>T	c.(259-261)gCt>gTt	p.A87V	IL17RD_ENST00000479825.1_5'UTR|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000427856.2_Missense_Mutation_p.A63V|IL17RD_ENST00000463523.1_5'UTR	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	87					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GTCATGGCAAGCATACTGGCT	0.517																																																	0													76.0	76.0	76.0					3																	57148770		1956	4152	6108	SO:0001583	missense	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.260C>T	3.37:g.57148770G>A	ENSP00000296318:p.Ala87Val		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.A87V	ENST00000296318.7	37	c.260	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.491298	0.96339	.	.	ENSG00000144730	ENST00000296318;ENST00000427856	T;T	0.17054	2.3;2.31	5.8	5.8	0.92144	.	0.149355	0.64402	D	0.000013	T	0.20292	0.0488	L	0.27053	0.805	0.53688	D	0.999978	P;P	0.41393	0.748;0.649	B;B	0.44044	0.355;0.439	T	0.00857	-1.1538	10	0.72032	D	0.01	-17.041	20.063	0.97692	0.0:0.0:1.0:0.0	.	87;63	Q8NFM7;Q8NFM7-3	I17RD_HUMAN;.	V	87;63	ENSP00000296318:A87V;ENSP00000399209:A63V	ENSP00000296318:A87V	A	-	2	0	IL17RD	57123810	0.999000	0.42202	0.603000	0.28903	0.996000	0.88848	8.125000	0.89590	2.735000	0.93741	0.655000	0.94253	GCT	IL17RD	-	NULL		0.517	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	G	NM_017563		57148770	-1	no_errors	ENST00000296318	ensembl	human	known	70_37	missense	SNP	0.981	A
IL1RAP	3556	genome.wustl.edu	37	3	190363541	190363541	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:190363541G>C	ENST00000412504.2	+	10	1507	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	IL1RAP_ENST00000072516.3_Missense_Mutation_p.E419Q|IL1RAP_ENST00000439062.1_Missense_Mutation_p.E419Q|IL1RAP_ENST00000443369.2_Missense_Mutation_p.E419Q|IL1RAP_ENST00000317757.3_Missense_Mutation_p.E419Q|IL1RAP_ENST00000447382.1_Missense_Mutation_p.E419Q			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	419	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GGAAGAAGAAGAATTTGTATT	0.388																																																	0													110.0	108.0	109.0					3																	190363541		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1255G>C	3.37:g.190363541G>C	ENSP00000412053:p.Glu419Gln		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.E419Q	ENST00000412504.2	37	c.1255	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062878	0.36373	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14	5.63	5.63	0.86233	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.219343	0.47455	D	0.000229	T	0.07007	0.0178	N	0.16833	0.445	0.49798	D	0.999826	P;B	0.43578	0.811;0.437	B;B	0.43623	0.425;0.349	T	0.12604	-1.0541	10	0.02654	T	1	.	18.678	0.91535	0.0:0.0:1.0:0.0	.	419;419	Q9NPH3-5;Q9NPH3	.;IL1AP_HUMAN	Q	419	ENSP00000072516:E419Q;ENSP00000408893:E419Q;ENSP00000412053:E419Q;ENSP00000401132:E419Q;ENSP00000390541:E419Q;ENSP00000314807:E419Q	ENSP00000072516:E419Q	E	+	1	0	IL1RAP	191846235	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.745000	0.62125	2.669000	0.90835	0.655000	0.94253	GAA	IL1RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.388	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	G			190363541	+1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	1.000	C
IL1RAP	3556	genome.wustl.edu	37	3	190373990	190373990	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:190373990C>G	ENST00000317757.3	+	12	1864	c.1658C>G	c.(1657-1659)tCt>tGt	p.S553C	IL1RAP_ENST00000443369.2_Missense_Mutation_p.S553C	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	555					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGTGCCAGTTCTGGCTGGAAT	0.493																																																	0													36.0	36.0	36.0					3																	190373990		692	1591	2283	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1658C>G	3.37:g.190373990C>G	ENSP00000314807:p.Ser553Cys		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.S553C	ENST00000317757.3	37	c.1658	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053774	0.55218	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.01613	4.73;4.73	5.51	5.51	0.81932	.	.	.	.	.	T	0.08492	0.0211	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.02632	-1.1131	9	0.62326	D	0.03	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	553	Q9NPH3-5	.	C	553	ENSP00000408893:S553C;ENSP00000314807:S553C	ENSP00000314807:S553C	S	+	2	0	IL1RAP	191856684	0.025000	0.19082	0.983000	0.44433	0.927000	0.56198	2.673000	0.46858	2.577000	0.86979	0.561000	0.74099	TCT	IL1RAP	-	NULL		0.493	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190373990	+1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	0.988	G
IL27RA	9466	genome.wustl.edu	37	19	14157028	14157028	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:14157028G>A	ENST00000263379.2	+	7	956	c.831G>A	c.(829-831)ctG>ctA	p.L277L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	277					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTCGTGAGCTGAGTCCAGAAG	0.582																																					Colon(164;1849 1896 4443 37792 47834)												0													160.0	160.0	160.0					19																	14157028		2203	4300	6503	SO:0001819	synonymous_variant	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.831G>A	19.37:g.14157028G>A			A0N0L1|O60624	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L277	ENST00000263379.2	37	c.831	CCDS12303.1	19																																																																																			IL27RA	-	superfamily_Fibronectin_type3		0.582	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	G	NM_004843		14157028	+1	no_errors	ENST00000263379	ensembl	human	known	70_37	silent	SNP	0.000	A
ILKAP	80895	genome.wustl.edu	37	2	239103229	239103229	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:239103229G>C	ENST00000254654.3	-	2	297				ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase						protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATGAACCAGAGAAAACTGCTC	0.353																																																	0																																										SO:0001627	intron_variant	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.121+216C>G	2.37:g.239103229G>C			B3KM39	RNA	SNP	-	NULL	ENST00000254654.3	37	NULL	CCDS2526.1	2																																																																																			ILKAP	-	-		0.353	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	G	NM_030768		239103229	-1	no_errors	ENST00000490837	ensembl	human	known	70_37	rna	SNP	0.993	C
IMPG2	50939	genome.wustl.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding. {ECO:0000250}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACCAGTTCTCACCCACCCGG	0.507																																																	2	Substitution - Missense(2)	lung(2)											196.0	167.0	177.0					3																	100949976		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3247G>A	3.37:g.100949976C>T	ENSP00000193391:p.Glu1083Lys		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1083K	ENST00000193391.7	37	c.3247	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724715	0.68959	.	.	ENSG00000081148	ENST00000193391	T	0.26067	1.76	5.91	4.06	0.47325	Epidermal growth factor-like, type 3 (1);	0.430497	0.23362	N	0.049011	T	0.26412	0.0645	L	0.54323	1.7	0.42318	D	0.992244	B;B	0.30937	0.301;0.301	B;B	0.30646	0.118;0.118	T	0.03394	-1.1041	10	0.48119	T	0.1	-2.9048	12.9447	0.58365	0.1326:0.7468:0.1206:0.0	.	1083;1083	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	1083	ENSP00000193391:E1083K	ENSP00000193391:E1083K	E	-	1	0	IMPG2	102432666	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	3.726000	0.54977	0.768000	0.33290	0.650000	0.86243	GAG	IMPG2	-	NULL		0.507	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			100949976	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	1.000	T
INADL	10207	genome.wustl.edu	37	1	62579784	62579784	+	Missense_Mutation	SNP	G	G	C	rs201005049		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:62579784G>C	ENST00000371158.2	+	35	4635	c.4521G>C	c.(4519-4521)caG>caC	p.Q1507H	INADL_ENST00000545929.1_Missense_Mutation_p.Q152H|INADL_ENST00000316485.6_Missense_Mutation_p.Q1537H|INADL_ENST00000543708.1_Missense_Mutation_p.Q321H	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1507	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCCTGAGGCAGACCCCCCAGA	0.557																																																	0													72.0	66.0	68.0					1																	62579784		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4521G>C	1.37:g.62579784G>C	ENSP00000360200:p.Gln1507His		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.Q1507H	ENST00000371158.2	37	c.4521	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584189	0.46110	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	T;T;T;T	0.27890	1.64;1.64;1.64;2.24	5.63	3.72	0.42706	PDZ/DHR/GLGF (4);	0.085636	0.45867	D	0.000322	T	0.35364	0.0929	M	0.68728	2.09	0.51482	D	0.999929	B;B;B;B;B;B	0.25206	0.004;0.12;0.002;0.019;0.001;0.005	B;B;B;B;B;B	0.32724	0.012;0.151;0.006;0.031;0.018;0.031	T	0.31752	-0.9932	10	0.62326	D	0.03	.	11.6348	0.51198	0.0674:0.1236:0.809:0.0	.	152;321;966;1537;1507;1479	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	H	1507;1537;1537;1479;321;152	ENSP00000360200:Q1507H;ENSP00000326199:Q1537H;ENSP00000445790:Q321H;ENSP00000440094:Q152H	ENSP00000326199:Q1537H	Q	+	3	2	INADL	62352372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.343000	0.44001	1.352000	0.45808	0.655000	0.94253	CAG	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.557	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	G	NM_170605		62579784	+1	no_errors	ENST00000371158	ensembl	human	known	70_37	missense	SNP	1.000	C
ING5	84289	genome.wustl.edu	37	2	242644096	242644096	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:242644096G>C	ENST00000313552.6	+	2	92	c.66G>C	c.(64-66)caG>caC	p.Q22H	ING5_ENST00000406941.1_Missense_Mutation_p.Q22H|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	22					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCGAACTTCAGAGGAACTTCC	0.507																																																	0													127.0	124.0	125.0					2																	242644096		2203	4296	6499	SO:0001583	missense	84289			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.66G>C	2.37:g.242644096G>C	ENSP00000322142:p.Gln22His		A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q22H	ENST00000313552.6	37	c.66	CCDS33425.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017484	0.75161	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	4.55	3.65	0.41850	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.76730	0.4028	M	0.77820	2.39	0.53688	D	0.999978	D;P	0.89917	1.0;0.774	D;P	0.77557	0.99;0.463	T	0.78066	-0.2349	9	0.48119	T	0.1	-11.7565	12.2713	0.54708	0.0835:0.0:0.9165:0.0	.	22;22	Q8WYH8;B7Z6R2	ING5_HUMAN;.	H	22	.	ENSP00000322142:Q22H	Q	+	3	2	ING5	242292769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.397000	0.34543	2.235000	0.73313	0.591000	0.81541	CAG	ING5	-	NULL		0.507	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING5	HGNC	protein_coding	OTTHUMT00000322901.3	G	NM_032329		242644096	+1	no_errors	ENST00000313552	ensembl	human	known	70_37	missense	SNP	1.000	C
MCMBP	79892	genome.wustl.edu	37	10	121587053	121587053	+	IGR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:121587053C>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.H444Y|INPP5F_ENST00000361976.2_Missense_Mutation_p.H1054Y	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GACAGGGCTTCATGTAACTCC	0.502																																																	0													107.0	105.0	106.0					10																	121587053		2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587053C>T			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.H1054Y	ENST00000360003.3	37	c.3160	CCDS7617.1	10	.	.	.	.	.	.	.	.	.	.	C	7.392	0.630929	0.14322	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.44083	1.18;0.93	5.92	1.41	0.22369	.	1.351530	0.04643	N	0.405729	T	0.28234	0.0697	L	0.29908	0.895	0.18873	N	0.999985	B;B	0.24533	0.105;0.0	B;B	0.22601	0.04;0.0	T	0.15896	-1.0421	10	0.02654	T	1	-0.0867	8.2385	0.31640	0.2356:0.6298:0.0:0.1345	.	444;1054	Q5W135;Q9Y2H2	.;SAC2_HUMAN	Y	1054;444	ENSP00000354519:H1054Y;ENSP00000358076:H444Y	ENSP00000354519:H1054Y	H	+	1	0	INPP5F	121577043	0.023000	0.18921	0.018000	0.16275	0.975000	0.68041	2.079000	0.41577	0.376000	0.24707	0.655000	0.94253	CAT	INPP5F	-	NULL		0.502	MCMBP-002	KNOWN	basic|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050684.1	C	NM_024834		121587053	+1	no_errors	ENST00000361976	ensembl	human	known	70_37	missense	SNP	0.031	T
INTS1	26173	genome.wustl.edu	37	7	1519192	1519192	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:1519192G>A	ENST00000404767.3	-	31	4288	c.4203C>T	c.(4201-4203)atC>atT	p.I1401I	INTS1_ENST00000389470.4_Silent_p.I1600I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1401					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACGCACCGTGATGCCCGGCA	0.741																																																	0													7.0	11.0	10.0					7																	1519192		2010	4116	6126	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4203C>T	7.37:g.1519192G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.I1600	ENST00000404767.3	37	c.4800	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.741	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1519192	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.000	A
INTS1	26173	genome.wustl.edu	37	7	1525123	1525123	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:1525123G>C	ENST00000404767.3	-	23	3062				INTS1_ENST00000389470.4_Missense_Mutation_p.H1149D	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGACACTCATGAGCTGGGCCG	0.667																																																	0													20.0	26.0	24.0					7																	1525123		2049	4181	6230	SO:0001627	intron_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2977-18C>G	7.37:g.1525123G>C			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.H1149D	ENST00000404767.3	37	c.3445	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	9.512	1.105935	0.20632	.	.	ENSG00000164880	ENST00000389470	T	0.41758	0.99	3.68	1.63	0.23807	.	.	.	.	.	T	0.28632	0.0709	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22034	-1.0228	5	.	.	.	.	4.0445	0.09766	0.1407:0.0:0.6322:0.2271	.	.	.	.	D	1149	ENSP00000374121:H1149D	.	H	-	1	0	INTS1	1491649	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	0.400000	0.20932	0.228000	0.21019	0.561000	0.74099	CAT	INTS1	-	NULL		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1525123	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.001	C
IPPK	64768	genome.wustl.edu	37	9	95378213	95378213	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:95378213G>C	ENST00000287996.3	-	13	1653	c.1377C>G	c.(1375-1377)gtC>gtG	p.V459V	IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Silent_p.V131V	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	459					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AATAATAGTTGACGATCTTGC	0.488																																																	0													208.0	155.0	173.0					9																	95378213		2203	4300	6503	SO:0001819	synonymous_variant	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1377C>G	9.37:g.95378213G>C			Q5T9F7|Q9H7V8	Silent	SNP	pfam_Ins_P5_2-kin	p.V459	ENST00000287996.3	37	c.1377	CCDS6699.1	9																																																																																			IPPK	-	NULL		0.488	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	G	NM_022755		95378213	-1	no_errors	ENST00000287996	ensembl	human	known	70_37	silent	SNP	1.000	C
IQCH	64799	genome.wustl.edu	37	15	67649712	67649712	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:67649712C>T	ENST00000335894.4	+	7	733	c.667C>T	c.(667-669)Cca>Tca	p.P223S	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Missense_Mutation_p.P50S	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	223										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGAACCACCTCCATCTCCAGC	0.398																																																	0													109.0	99.0	103.0					15																	67649712		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.667C>T	15.37:g.67649712C>T	ENSP00000336861:p.Pro223Ser		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.P223S	ENST00000335894.4	37	c.667	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	3.807	-0.040553	0.07497	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.45276	0.9;0.9	4.65	0.581	0.17407	.	3.060280	0.00805	N	0.001450	T	0.24812	0.0602	N	0.17082	0.46	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.008	B;B;B	0.12837	0.005;0.008;0.007	T	0.08868	-1.0701	10	0.12766	T	0.61	-9.3641	3.1206	0.06389	0.2168:0.4768:0.0:0.3064	.	50;223;50	F8WAL8;Q86VS3;Q86VS3-3	.;IQCH_HUMAN;.	S	50;223	ENSP00000351617:P50S;ENSP00000336861:P223S	ENSP00000336861:P223S	P	+	1	0	IQCH	65436766	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.069000	0.11542	0.121000	0.18284	0.655000	0.94253	CCA	IQCH	-	NULL		0.398	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	C	NM_022784		67649712	+1	no_errors	ENST00000335894	ensembl	human	known	70_37	missense	SNP	0.000	T
IQGAP3	128239	genome.wustl.edu	37	1	156539199	156539199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:156539199G>A	ENST00000361170.2	-	2	104	c.94C>T	c.(94-96)Cag>Tag	p.Q32*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	32					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGGTACTGATAGGCAACA	0.552																																																	0													50.0	41.0	44.0					1																	156539199		2203	4300	6503	SO:0001587	stop_gained	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.94C>T	1.37:g.156539199G>A	ENSP00000354451:p.Gln32*		Q5T3H8	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.Q32*	ENST00000361170.2	37	c.94	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.360808	0.95877	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.97	4.05	0.47172	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1929	14.3289	0.66541	0.0:0.1492:0.8508:0.0	.	.	.	.	X	32	.	ENSP00000354451:Q32X	Q	-	1	0	IQGAP3	154805823	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.036000	0.41165	1.326000	0.45319	0.467000	0.42956	CAG	IQGAP3	-	superfamily_CH-domain		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	G	NM_178229		156539199	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	nonsense	SNP	1.000	A
IRAK3	11213	genome.wustl.edu	37	12	66638416	66638416	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:66638416C>T	ENST00000261233.4	+	9	1459	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	IRAK3_ENST00000457197.2_Silent_p.I285I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AAGAGTACATCAGACAGGGGA	0.433																																																	0													122.0	110.0	114.0					12																	66638416		2203	4300	6503	SO:0001819	synonymous_variant	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1038C>T	12.37:g.66638416C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.I346	ENST00000261233.4	37	c.1038	CCDS8975.1	12																																																																																			IRAK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.433	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	C			66638416	+1	no_errors	ENST00000261233	ensembl	human	known	70_37	silent	SNP	0.997	T
IRF1	3659	genome.wustl.edu	37	5	131820129	131820129	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:131820129C>G	ENST00000245414.4	-	9	1036	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Missense_Mutation_p.E260Q	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	260					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ACTCCAGGTTCATTGAGTAGG	0.547																																																	0													149.0	143.0	145.0					5																	131820129		2203	4300	6503	SO:0001583	missense	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.778G>C	5.37:g.131820129C>G	ENSP00000245414:p.Glu260Gln		Q96GG7	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.E260Q	ENST00000245414.4	37	c.778	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585789	0.86748	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.81996	-1.56;-1.56	5.67	5.67	0.87782	.	1.223500	0.05298	N	0.522540	D	0.91620	0.7352	M	0.64997	1.995	0.58432	D	0.999999	D	0.69078	0.997	D	0.75484	0.986	T	0.82776	-0.0290	10	0.72032	D	0.01	-23.0179	17.2762	0.87116	0.0:1.0:0.0:0.0	.	260	P10914	IRF1_HUMAN	Q	260	ENSP00000245414:E260Q;ENSP00000384406:E260Q	ENSP00000245414:E260Q	E	-	1	0	IRF1	131848028	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.741000	0.62095	2.677000	0.91161	0.561000	0.74099	GAA	IRF1	-	pirsf_Interferon_reg_fac-1/2		0.547	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	C	NM_002198		131820129	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	missense	SNP	1.000	G
ITFG1	81533	genome.wustl.edu	37	16	47195728	47195728	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:47195728C>G	ENST00000320640.6	-	16	1822	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	ITFG1_ENST00000544001.2_Missense_Mutation_p.E419Q|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	532						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GCAGTCCACTCTTGTTTTCGT	0.328																																																	0													185.0	171.0	176.0					16																	47195728		2202	4300	6502	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1594G>C	16.37:g.47195728C>G	ENSP00000319918:p.Glu532Gln		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.E532Q	ENST00000320640.6	37	c.1594	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583791	0.86748	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	N	0.21097	0.63	0.80722	D	1	P;D	0.67145	0.627;0.996	B;P	0.62184	0.295;0.899	T	0.58323	-0.7656	10	0.14252	T	0.57	-24.94	19.5992	0.95552	0.0:1.0:0.0:0.0	.	419;532	F5GXC5;Q8TB96	.;TIP_HUMAN	Q	532;192;277;419	ENSP00000319918:E532Q;ENSP00000441062:E419Q	ENSP00000319918:E532Q	E	-	1	0	ITFG1	45753229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.270000	0.78493	2.640000	0.89533	0.467000	0.42956	GAG	ITFG1	-	NULL		0.328	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	C	NM_030790		47195728	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	missense	SNP	1.000	G
ITFG1	81533	genome.wustl.edu	37	16	47487999	47487999	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:47487999G>A	ENST00000320640.6	-	3	580	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	ITFG1_ENST00000544001.2_Silent_p.L5L	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGATATGTCAGAAGGACATCC	0.338																																																	0													118.0	116.0	117.0					16																	47487999		2201	4300	6501	SO:0001819	synonymous_variant	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.352C>T	16.37:g.47487999G>A			Q96SR4|Q9BRE2|Q9H2V9	Silent	SNP	NULL	p.L118	ENST00000320640.6	37	c.352	CCDS10728.1	16																																																																																			ITFG1	-	NULL		0.338	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	G	NM_030790		47487999	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	silent	SNP	0.459	A
ITGA4	3676	genome.wustl.edu	37	2	182363438	182363438	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:182363438G>A	ENST00000397033.2	+	15	2059	c.1629G>A	c.(1627-1629)gtG>gtA	p.V543V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	543					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CTTCTGACGTGATTACAGGAA	0.358																																																	0													98.0	95.0	96.0					2																	182363438		2009	4179	6188	SO:0001819	synonymous_variant	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1629G>A	2.37:g.182363438G>A			D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V543	ENST00000397033.2	37	c.1629	CCDS42788.1	2																																																																																			ITGA4	-	pfam_Integrin_alpha-2		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182363438	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	silent	SNP	0.367	A
ITGA9	3680	genome.wustl.edu	37	3	37544680	37544680	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:37544680G>A	ENST00000264741.5	+	6	880	c.624G>A	c.(622-624)gtG>gtA	p.V208V	ITGA9_ENST00000422441.1_Silent_p.V208V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	208					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCTGGTGGTGATGGGTGCTC	0.473																																																	0													157.0	148.0	151.0					3																	37544680		2203	4300	6503	SO:0001819	synonymous_variant	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.624G>A	3.37:g.37544680G>A			Q14638	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V208	ENST00000264741.5	37	c.624	CCDS2669.1	3																																																																																			ITGA9	-	NULL		0.473	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	G	NM_002207		37544680	+1	no_errors	ENST00000264741	ensembl	human	known	70_37	silent	SNP	1.000	A
ITGAL	3683	genome.wustl.edu	37	16	30490497	30490497	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:30490497G>T	ENST00000356798.6	+	5	593	c.413G>T	c.(412-414)gGt>gTt	p.G138V	ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_Missense_Mutation_p.G138V|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	138					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AATCTGCAGGGTCCCATGCTG	0.542																																					NSCLC(110;1462 1641 3311 33990 49495)												0													80.0	76.0	77.0					16																	30490497		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.413G>T	16.37:g.30490497G>T	ENSP00000349252:p.Gly138Val		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G138V	ENST00000356798.6	37	c.413	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749625	0.30955	.	.	ENSG00000005844	ENST00000356798;ENST00000454514	T;T	0.75154	-0.91;1.68	5.86	-3.57	0.04612	.	1.296290	0.05161	N	0.497713	T	0.66877	0.2834	L	0.34521	1.04	0.09310	N	0.999991	P	0.48503	0.911	P	0.48368	0.575	T	0.60419	-0.7267	10	0.48119	T	0.1	.	6.3264	0.21246	0.4901:0.0:0.3889:0.1211	.	138	P20701	ITAL_HUMAN	V	138	ENSP00000349252:G138V;ENSP00000408615:G138V	ENSP00000349252:G138V	G	+	2	0	ITGAL	30397998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.112000	0.15479	-0.922000	0.03789	-0.351000	0.07748	GGT	ITGAL	-	NULL		0.542	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	G			30490497	+1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.000	T
ITIH6	347365	genome.wustl.edu	37	X	54784259	54784259	+	Missense_Mutation	SNP	C	C	T	rs368811375		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:54784259C>T	ENST00000218436.6	-	8	2277	c.2248G>A	c.(2248-2250)Gat>Aat	p.D750N		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	750	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGTAATATATCAGGATTCTGG	0.517																																																	0								C	ASN/ASP	0,3835		0,0,0,1632,571	124.0	118.0	120.0		2248	0.9	0.0	X		120	1,6727		0,0,1,2428,1871	no	missense	ITIH5L	NM_198510.2	23	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	750/1314	54784259	1,10562	2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2248G>A	X.37:g.54784259C>T	ENSP00000218436:p.Asp750Asn		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D750N	ENST00000218436.6	37	c.2248	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.121041	0.00346	0.0	1.49E-4	ENSG00000102313	ENST00000218436	T	0.02050	4.48	4.03	0.92	0.19397	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49597	-0.8923	9	0.16896	T	0.51	.	3.07	0.06227	0.3323:0.3905:0.0:0.2772	.	750	Q6UXX5	ITH5L_HUMAN	N	750	ENSP00000218436:D750N	ENSP00000218436:D750N	D	-	1	0	ITIH5L	54800984	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.504000	0.06375	0.035000	0.15519	0.553000	0.69018	GAT	ITIH6	-	NULL		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	C	NM_198510		54784259	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.000	T
ITPA	3704	genome.wustl.edu	37	20	3190194	3190194	+	5'UTR	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:3190194C>A	ENST00000380113.3	+	0	189				ITPA_ENST00000483354.1_Intron|ITPA_ENST00000455664.2_5'UTR|ITPA_ENST00000399838.3_5'UTR	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AACCGGGGATCACCATGGCGG	0.602																																																	0													70.0	65.0	66.0					20																	3190194		2203	4300	6503	SO:0001623	5_prime_UTR_variant	3704			AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.-4C>A	20.37:g.3190194C>A				RNA	SNP	-	NULL	ENST00000380113.3	37	NULL	CCDS13051.1	20																																																																																			ITPA	-	-		0.602	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPA	HGNC	protein_coding	OTTHUMT00000077719.2	C			3190194	+1	no_errors	ENST00000460550	ensembl	human	known	70_37	rna	SNP	0.014	A
ITPK1	3705	genome.wustl.edu	37	14	93537475	93537475	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:93537475G>C	ENST00000267615.6	-	3	294				ITPK1-AS1_ENST00000553639.1_RNA|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Intron|ITPK1_ENST00000556603.2_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTCTTCTTCTGAGCTACCTGG	0.542																																																	0																																										SO:0001627	intron_variant	319085			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.120+5464C>G	14.37:g.93537475G>C			Q9BTL6|Q9H2E7	RNA	SNP	-	NULL	ENST00000267615.6	37	NULL	CCDS9907.1	14																																																																																			ITPK1-AS1	-	-		0.542	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1-AS1	HGNC	protein_coding	OTTHUMT00000412421.2	G	NM_014216		93537475	+1	no_errors	ENST00000553639	ensembl	human	known	70_37	rna	SNP	0.005	C
ITPKC	80271	genome.wustl.edu	37	19	41243662	41243662	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:41243662C>G	ENST00000263370.2	+	6	1869	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	612					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCCTTCTTCAAGACCCACG	0.537																																																	0													170.0	155.0	160.0					19																	41243662		2203	4300	6503	SO:0001583	missense	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1836C>G	19.37:g.41243662C>G	ENSP00000263370:p.Phe612Leu		Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.F612L	ENST00000263370.2	37	c.1836	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250633	0.59212	.	.	ENSG00000086544	ENST00000263370	T	0.13089	2.62	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09400	-1.0676	10	0.87932	D	0	-20.3359	11.9524	0.52962	0.0:0.9191:0.0:0.0809	.	612	Q96DU7	IP3KC_HUMAN	L	612	ENSP00000263370:F612L	ENSP00000263370:F612L	F	+	3	2	ITPKC	45935502	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.219000	0.58561	2.740000	0.93945	0.650000	0.86243	TTC	ITPKC	-	pfam_IPK		0.537	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1	C	NM_025194		41243662	+1	no_errors	ENST00000263370	ensembl	human	known	70_37	missense	SNP	1.000	G
JPH3	57338	genome.wustl.edu	37	16	87723265	87723265	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:87723265G>C	ENST00000284262.2	+	4	1541	c.1299G>C	c.(1297-1299)caG>caC	p.Q433H	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	433					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGGAGTACCAGAGGCCGAAGC	0.672																																																	0													36.0	27.0	30.0					16																	87723265		2194	4299	6493	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1299G>C	16.37:g.87723265G>C	ENSP00000284262:p.Gln433His		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.Q433H	ENST00000284262.2	37	c.1299	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373671	0.61624	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51817	0.69	4.48	4.48	0.54585	.	0.137892	0.50627	D	0.000112	T	0.57961	0.2089	L	0.57536	1.79	0.58432	D	0.999996	D	0.61697	0.99	P	0.57776	0.827	T	0.61783	-0.6992	10	0.66056	D	0.02	.	11.7767	0.51989	0.0887:0.0:0.9113:0.0	.	433	Q8WXH2	JPH3_HUMAN	H	296;433	ENSP00000284262:Q433H	ENSP00000284262:Q433H	Q	+	3	2	JPH3	86280766	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	5.235000	0.65348	2.050000	0.60909	0.655000	0.94253	CAG	JPH3	-	pirsf_Junctophilin		0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	G			87723265	+1	no_errors	ENST00000284262	ensembl	human	known	70_37	missense	SNP	1.000	C
JRK	8629	genome.wustl.edu	37	8	143740180	143740180	+	RNA	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:143740180G>A	ENST00000507178.2	-	0	7630							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GGAGGCCACAGACCTACCAAC	0.517																																																	0																																												8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143740180G>A			O75565	RNA	SNP	-	NULL	ENST00000507178.2	37	NULL		8																																																																																			JRK	-	-		0.517	JRK-003	KNOWN	basic	processed_transcript	JRK	HGNC	processed_transcript	OTTHUMT00000362914.1	G	NM_003724		143740180	-1	no_errors	ENST00000507178	ensembl	human	known	70_37	rna	SNP	0.000	A
JUN	3725	genome.wustl.edu	37	1	59247748	59247748	+	Nonstop_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:59247748C>G	ENST00000371222.2	-	1	2037	c.995G>C	c.(994-996)tGa>tCa	p.*332S		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	0					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GGTCTCTCTTCAAAATGTTTG	0.463			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p32-p31	3725	jun oncogene		M	0													81.0	82.0	82.0					1																	59247748		2203	4300	6503	SO:0001578	stop_lost	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.995G>C	1.37:g.59247748C>G		1037	Q6FHM7|Q96G93	Nonstop_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.*332S	ENST00000371222.2	37	c.995	CCDS610.1	1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771384	0.31320	.	.	ENSG00000177606	ENST00000371222	.	.	.	3.24	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.748	0.77962	0.0:1.0:0.0:0.0	.	.	.	.	S	332	.	.	X	-	2	2	JUN	59020336	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.239000	0.78182	2.108000	0.64289	0.561000	0.74099	TGA	JUN	-	NULL		0.463	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	HGNC	protein_coding	OTTHUMT00000023042.1	C	NM_002228		59247748	-1	no_errors	ENST00000371222	ensembl	human	known	70_37	nonstop	SNP	1.000	G
KAT5	10524	genome.wustl.edu	37	11	65486388	65486388	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:65486388C>A	ENST00000377046.3	+	13	1642	c.1370C>A	c.(1369-1371)tCc>tAc	p.S457Y	KAT5_ENST00000352980.4_Missense_Mutation_p.S405Y|KAT5_ENST00000534650.1_Missense_Mutation_p.S246Y|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S438Y|KAT5_ENST00000341318.4_Missense_Mutation_p.S490Y	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	457	Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GATGTCATCTCCACTCTGCAG	0.542																																																	0													137.0	104.0	115.0					11																	65486388		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1370C>A	11.37:g.65486388C>A	ENSP00000366245:p.Ser457Tyr		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.S490Y	ENST00000377046.3	37	c.1469	CCDS31610.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.789599|3.789599	0.70337|0.70337	.|.	.|.	ENSG00000172977|ENSG00000172977	ENST00000533596|ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	.|T;T;T;T	.|0.48836	.|0.81;0.83;0.8;0.83	4.74|4.74	3.82|3.82	0.43975|0.43975	.|Acyl-CoA N-acyltransferase (1);MOZ/SAS-like protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56217|0.56217	0.1970|0.1970	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	.|D;P;P;P	.|0.54772	.|0.968;0.885;0.85;0.916	.|P;P;P;P	.|0.58620	.|0.842;0.742;0.639;0.813	T|T	0.52540|0.52540	-0.8562|-0.8562	5|10	.|0.28530	.|T	.|0.3	-20.5207|-20.5207	12.7084|12.7084	0.57076|0.57076	0.0:0.8329:0.1671:0.0|0.0:0.8329:0.1671:0.0	.|.	.|438;490;405;457	.|B4E3C7;Q92993-3;Q92993-2;Q92993	.|.;.;.;KAT5_HUMAN	T|Y	39|457;405;490;438;246	.|ENSP00000366245:S457Y;ENSP00000344955:S405Y;ENSP00000340330:S490Y;ENSP00000434765:S438Y	.|ENSP00000340330:S490Y	P|S	+|+	1|2	0|0	KAT5|KAT5	65242964|65242964	1.000000|1.000000	0.71417|0.71417	0.873000|0.873000	0.34254|0.34254	0.984000|0.984000	0.73092|0.73092	7.139000|7.139000	0.77314|0.77314	1.203000|1.203000	0.43233|0.43233	0.555000|0.555000	0.69702|0.69702	CCA|TCC	KAT5	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.542	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	C	NM_006388		65486388	+1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	A
KAT6B	23522	genome.wustl.edu	37	10	76789044	76789044	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:76789044G>C	ENST00000287239.4	+	18	4951	c.4462G>C	c.(4462-4464)Gag>Cag	p.E1488Q	KAT6B_ENST00000372725.1_Missense_Mutation_p.E1196Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1305Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1196Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1196Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1488					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTGTAACAGTGAGCCCAAGGA	0.532																																																	0													66.0	69.0	68.0					10																	76789044		2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4462G>C	10.37:g.76789044G>C	ENSP00000287239:p.Glu1488Gln		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E1488Q	ENST00000287239.4	37	c.4462	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	8.213	0.800828	0.16397	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79141	-1.23;-1.23;-1.24;-1.23;-1.23	4.78	4.78	0.61160	.	0.128463	0.34777	N	0.003694	T	0.71375	0.3332	L	0.29908	0.895	0.39365	D	0.965986	P;B;B	0.39480	0.675;0.144;0.443	B;B;B	0.41813	0.367;0.157;0.146	T	0.75196	-0.3403	10	0.46703	T	0.11	-10.9103	15.9958	0.80243	0.0:0.0:1.0:0.0	.	1305;1196;1488	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	1196;1196;1488;1196;1305	ENSP00000361810:E1196Q;ENSP00000361809:E1196Q;ENSP00000287239:E1488Q;ENSP00000361799:E1196Q;ENSP00000361796:E1305Q	ENSP00000287239:E1488Q	E	+	1	0	KAT6B	76459050	0.999000	0.42202	1.000000	0.80357	0.802000	0.45316	2.995000	0.49441	2.202000	0.70862	0.462000	0.41574	GAG	KAT6B	-	NULL		0.532	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	G	NM_012330		76789044	+1	no_errors	ENST00000287239	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNC3	3748	genome.wustl.edu	37	19	50831754	50831754	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:50831754C>T	ENST00000477616.1	-	1	880	c.586G>A	c.(586-588)Gag>Aag	p.E196K	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.E196K|NR1H2_ENST00000542413.1_5'Flank	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	196					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	AGCGCCTCCTCAGCGTCGCGA	0.731																																					Melanoma(91;1496 2324 50908)												0													18.0	22.0	20.0					19																	50831754		2194	4290	6484	SO:0001583	missense	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.586G>A	19.37:g.50831754C>T	ENSP00000434241:p.Glu196Lys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.E196K	ENST00000477616.1	37	c.586	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	16.81	3.225211	0.58668	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98105	-4.72;-4.72	2.16	2.16	0.27623	BTB/POZ fold (1);	0.000000	0.28883	U	0.013829	D	0.97009	0.9023	L	0.35723	1.085	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95876	0.8895	10	0.87932	D	0	.	7.8828	0.29631	0.0:1.0:0.0:0.0	.	196	Q14003	KCNC3_HUMAN	K	196;196;10	ENSP00000366158:E196K;ENSP00000434241:E196K	ENSP00000366158:E196K	E	-	1	0	KCNC3	55523566	1.000000	0.71417	0.997000	0.53966	0.233000	0.25261	5.048000	0.64238	1.249000	0.43950	0.154000	0.16183	GAG	KCNC3	-	NULL		0.731	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	C	NM_004977		50831754	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNC3	3748	genome.wustl.edu	37	19	50831779	50831779	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:50831779C>T	ENST00000477616.1	-	1	855	c.561G>A	c.(559-561)atG>atA	p.M187I	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.M187I|NR1H2_ENST00000542413.1_5'Flank	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	187					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GCCGGTAGGTCATCCAGCAGC	0.721																																					Melanoma(91;1496 2324 50908)												0													26.0	30.0	29.0					19																	50831779		2203	4297	6500	SO:0001583	missense	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.561G>A	19.37:g.50831779C>T	ENSP00000434241:p.Met187Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.M187I	ENST00000477616.1	37	c.561	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	13.96	2.393354	0.42410	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.97831	-4.56;-4.56	2.28	2.28	0.28536	BTB/POZ-like (1);BTB/POZ fold (2);	0.231134	0.27778	U	0.017886	D	0.97480	0.9175	M	0.64404	1.975	0.80722	D	1	P	0.47191	0.891	P	0.57057	0.812	D	0.97122	0.9812	10	0.87932	D	0	.	10.3457	0.43906	0.0:1.0:0.0:0.0	.	187	Q14003	KCNC3_HUMAN	I	187;187;1	ENSP00000366158:M187I;ENSP00000434241:M187I	ENSP00000366158:M187I	M	-	3	0	KCNC3	55523591	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	6.618000	0.74214	1.317000	0.45149	0.154000	0.16183	ATG	KCNC3	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3		0.721	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	C	NM_004977		50831779	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNH3	23416	genome.wustl.edu	37	12	49948277	49948277	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49948277C>T	ENST00000257981.6	+	11	2336	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	692					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCCGCGCTTCAGTCGTGGCC	0.647																																																	0													56.0	55.0	55.0					12																	49948277		2203	4300	6503	SO:0001819	synonymous_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2076C>T	12.37:g.49948277C>T			Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.F692	ENST00000257981.6	37	c.2076	CCDS8786.1	12																																																																																			KCNH3	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.647	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	C	NM_012284		49948277	+1	no_errors	ENST00000257981	ensembl	human	known	70_37	silent	SNP	0.991	T
KCNK5	8645	genome.wustl.edu	37	6	39158927	39158927	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:39158927G>A	ENST00000359534.3	-	5	1577	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	413					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCTGGAAGATGAGTGGGTGGT	0.622																																																	0													82.0	75.0	78.0					6																	39158927		2203	4300	6503	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1239C>T	6.37:g.39158927G>A			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.L413	ENST00000359534.3	37	c.1239	CCDS4841.1	6																																																																																			KCNK5	-	NULL		0.622	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	G	NM_003740		39158927	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	silent	SNP	0.993	A
KCTD12	115207	genome.wustl.edu	37	13	77459648	77459648	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:77459648G>A	ENST00000377474.2	-	1	877	c.636C>T	c.(634-636)atC>atT	p.I212I	KCTD12_ENST00000317765.2_Silent_p.I212I|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	212					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CGCGGTAGCCGATGGTGATGT	0.726											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6.0	7.0	7.0					13																	77459648		1939	3934	5873	SO:0001819	synonymous_variant	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.636C>T	13.37:g.77459648G>A		1175		Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.I212	ENST00000377474.2	37	c.636	CCDS9455.1	13																																																																																			KCTD12	-	NULL		0.726	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD12	HGNC	protein_coding	OTTHUMT00000045309.2	G	NM_138444		77459648	-1	no_errors	ENST00000317765	ensembl	human	known	70_37	silent	SNP	1.000	A
KCTD6	200845	genome.wustl.edu	37	3	58484430	58484430	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:58484430C>G	ENST00000355076.6	+	0	931				KCTD6_ENST00000404589.3_Intron|KCTD6_ENST00000490264.1_Intron|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6						protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		CTGTTTTTCTCCTCTTGAAGT	0.438																																																	0													113.0	96.0	101.0					3																	58484430		692	1591	2283	SO:0001623	5_prime_UTR_variant	200845			AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.-53C>G	3.37:g.58484430C>G			B3KNI5|Q8NBS6|Q8TCA6	RNA	SNP	-	NULL	ENST00000355076.6	37	NULL	CCDS2891.1	3																																																																																			KCTD6	-	-		0.438	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD6	HGNC	protein_coding	OTTHUMT00000353591.1	C	NM_153331		58484430	+1	no_errors	ENST00000479470	ensembl	human	putative	70_37	rna	SNP	0.000	G
KDM2B	84678	genome.wustl.edu	37	12	121947753	121947753	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:121947753C>G	ENST00000377071.4	-	11	1336	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	KDM2B_ENST00000542973.1_5'Flank|KDM2B_ENST00000377069.4_Missense_Mutation_p.E391Q|KDM2B_ENST00000536437.1_Missense_Mutation_p.E305Q|KDM2B_ENST00000538046.2_Missense_Mutation_p.E332Q	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	422	Glu-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ttctcctcctcctcctGAGGC	0.647																																																	0													37.0	44.0	41.0					12																	121947753		2054	4172	6226	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1264G>C	12.37:g.121947753C>G	ENSP00000366271:p.Glu422Gln		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E422Q	ENST00000377071.4	37	c.1264	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703436	0.48412	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000542030	T;T;T;T;T	0.52057	2.46;1.87;0.89;0.89;0.68	4.96	4.96	0.65561	.	0.553031	0.17127	N	0.185990	T	0.50222	0.1603	L	0.47716	1.5	0.34701	D	0.726732	D;P;P;P	0.57257	0.979;0.675;0.816;0.675	P;B;B;B	0.50082	0.63;0.118;0.382;0.242	T	0.53927	-0.8369	10	0.14656	T	0.56	-25.2328	17.5919	0.87999	0.0:1.0:0.0:0.0	.	422;305;422;391	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	Q	422;391;422;305;422;422;385;124	ENSP00000366269:E391Q;ENSP00000366271:E422Q;ENSP00000445196:E305Q;ENSP00000398279:E385Q;ENSP00000444846:E124Q	ENSP00000261824:E422Q	E	-	1	0	KDM2B	120432136	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.422000	0.73357	2.476000	0.83614	0.655000	0.94253	GAG	KDM2B	-	NULL		0.647	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	C	NM_032590		121947753	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	missense	SNP	1.000	G
KHSRP	8570	genome.wustl.edu	37	19	6417784	6417784	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:6417784C>G	ENST00000398148.3	-	11	1139	c.1047G>C	c.(1045-1047)caG>caC	p.Q349H	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	349	Gly-rich.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CAGCATCATTCTGGATCTTCT	0.632											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(55;593 1006 2067 9135 22980)												0													64.0	70.0	68.0					19																	6417784		2117	4239	6356	SO:0001583	missense	8570			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1047G>C	19.37:g.6417784C>G	ENSP00000381216:p.Gln349His	633	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.Q349H	ENST00000398148.3	37	c.1047	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946714	0.53186	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.34072	1.38	5.35	4.1	0.47936	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	H	0.96015	3.755	0.50632	D	0.99988	D	0.89917	1.0	D	0.91635	0.999	T	0.77210	-0.2671	10	0.87932	D	0	.	10.7459	0.46181	0.0:0.8545:0.0:0.1455	.	349	Q92945	FUBP2_HUMAN	H	349;349;305	ENSP00000381216:Q349H	ENSP00000201886:Q349H	Q	-	3	2	KHSRP	6368784	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.647000	0.54403	2.493000	0.84123	0.655000	0.94253	CAG	KHSRP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.632	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1	C			6417784	-1	no_errors	ENST00000398148	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA0100	9703	genome.wustl.edu	37	17	26959124	26959124	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:26959124C>T	ENST00000528896.2	-	21	4013	c.3939G>A	c.(3937-3939)aaG>aaA	p.K1313K	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.K1170K|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.K1170K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1313						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GACCAAGTTTCTTCTTGCTGG	0.493																																																	0													322.0	307.0	312.0					17																	26959124		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3939G>A	17.37:g.26959124C>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.K1313	ENST00000528896.2	37	c.3939	CCDS32595.1	17																																																																																			KIAA0100	-	NULL		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26959124	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	silent	SNP	1.000	T
KIAA0922	23240	genome.wustl.edu	37	4	154544168	154544168	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:154544168G>C	ENST00000409663.3	+	29	4027	c.3975G>C	c.(3973-3975)tgG>tgC	p.W1325C	KIAA0922_ENST00000409959.3_Missense_Mutation_p.W1326C|KIAA0922_ENST00000440693.1_Missense_Mutation_p.W1242C	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1325	Ser-rich.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGGGGAGCTGGAGCAGCACCA	0.647																																																	0													52.0	56.0	55.0					4																	154544168		2203	4300	6503	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3975G>C	4.37:g.154544168G>C	ENSP00000386574:p.Trp1325Cys		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.W1326C	ENST00000409663.3	37	c.3978	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126974	0.56721	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.31510	1.8;1.49;1.8;1.51	5.69	5.69	0.88448	.	0.161196	0.48286	D	0.000193	T	0.54271	0.1848	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.43653	-0.9378	10	0.38643	T	0.18	-8.6796	19.821	0.96592	0.0:0.0:1.0:0.0	.	1242;1326;1325	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	C	1325;1242;1326;1103	ENSP00000386574:W1325C;ENSP00000409663:W1242C;ENSP00000386787:W1326C;ENSP00000240487:W1103C	ENSP00000240487:W1103C	W	+	3	0	KIAA0922	154763618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.780000	0.68956	2.683000	0.91414	0.655000	0.94253	TGG	KIAA0922	-	NULL		0.647	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	G	NM_015196		154544168	+1	no_errors	ENST00000409959	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1524	57650	genome.wustl.edu	37	3	108276072	108276072	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:108276072G>A	ENST00000295746.8	-	17	2279	c.2203C>T	c.(2203-2205)Ctt>Ttt	p.L735F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L576F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	735					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACCTCTGAAGAAGTTCCATG	0.363																																																	0													102.0	102.0	102.0					3																	108276072		2202	4300	6502	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2203C>T	3.37:g.108276072G>A	ENSP00000295746:p.Leu735Phe		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L735F	ENST00000295746.8	37	c.2203	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825618	0.50739	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.68479	-0.33;1.49	6.03	-1.13	0.09775	.	0.423848	0.28119	N	0.016538	T	0.47801	0.1465	L	0.27053	0.805	0.33697	D	0.614117	P	0.42757	0.789	B	0.41894	0.369	T	0.54403	-0.8299	10	0.51188	T	0.08	-0.6041	6.0044	0.19539	0.0611:0.1786:0.4369:0.3234	.	735	Q8TCG1	CIP2A_HUMAN	F	576;735	ENSP00000419487:L576F;ENSP00000295746:L735F	ENSP00000295746:L735F	L	-	1	0	KIAA1524	109758762	1.000000	0.71417	0.982000	0.44146	0.931000	0.56810	0.677000	0.25262	-0.099000	0.12263	-0.225000	0.12378	CTT	KIAA1524	-	NULL		0.363	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	G	NM_020890		108276072	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	missense	SNP	0.954	A
KIAA1644	85352	genome.wustl.edu	37	22	44681447	44681447	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:44681447G>A	ENST00000381176.4	-	4	592	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	154						integral component of membrane (GO:0016021)		p.R154W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGAGGGGCCCGAGCGGGGTTC	0.687																																																	1	Substitution - Missense(1)	large_intestine(1)											43.0	47.0	46.0					22																	44681447		1887	4120	6007	SO:0001583	missense	85352			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.460C>T	22.37:g.44681447G>A	ENSP00000370568:p.Arg154Trp		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	NULL	p.R154W	ENST00000381176.4	37	c.460	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953160	0.34471	.	.	ENSG00000138944	ENST00000381176	.	.	.	4.28	3.24	0.37175	.	0.651810	0.13564	N	0.378521	T	0.29817	0.0745	N	0.08118	0	0.33797	D	0.626183	D	0.64830	0.994	P	0.47744	0.556	T	0.43893	-0.9363	8	0.87932	D	0	-14.4147	10.899	0.47040	0.0:0.0:0.7996:0.2004	.	154	Q3SXP7	K1644_HUMAN	W	154	.	ENSP00000370568:R154W	R	-	1	2	KIAA1644	43012780	1.000000	0.71417	0.947000	0.38551	0.264000	0.26372	2.294000	0.43567	0.889000	0.36185	0.561000	0.74099	CGG	KIAA1644	-	NULL		0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	G	NM_001099294		44681447	-1	no_errors	ENST00000381176	ensembl	human	putative	70_37	missense	SNP	0.998	A
KIDINS220	57498	genome.wustl.edu	37	2	8934073	8934073	+	Silent	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:8934073C>A	ENST00000256707.3	-	12	1324	c.1143G>T	c.(1141-1143)cgG>cgT	p.R381R	KIDINS220_ENST00000473731.1_Silent_p.R381R|KIDINS220_ENST00000418530.1_Silent_p.R339R|KIDINS220_ENST00000319688.5_Silent_p.R382R|KIDINS220_ENST00000427284.1_Silent_p.R381R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	381					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGCCAGTTTCCGGCTCCTTC	0.388																																																	0													90.0	83.0	85.0					2																	8934073		1826	4079	5905	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1143G>T	2.37:g.8934073C>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R381	ENST00000256707.3	37	c.1143	CCDS42650.1	2																																																																																			KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.388	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8934073	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	0.988	A
KIF11	3832	genome.wustl.edu	37	10	94397061	94397061	+	Missense_Mutation	SNP	G	G	A	rs201047452		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:94397061G>A	ENST00000260731.3	+	15	2086	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	666					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACAGTGGCCGATAAGGTAAC	0.313																																					Colon(47;212 1003 2764 4062 8431)												0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	96.0	98.0	97.0		1996	2.6	1.0	10		97	0,8596		0,0,4298	no	missense	KIF11	NM_004523.3	23	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	666/1057	94397061	1,13001	2203	4298	6501	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1996G>A	10.37:g.94397061G>A	ENSP00000260731:p.Asp666Asn		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D666N	ENST00000260731.3	37	c.1996	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527545	0.27299	2.27E-4	0.0	ENSG00000138160	ENST00000260731	T	0.64438	-0.1	4.82	2.59	0.31030	.	0.598474	0.16618	N	0.206638	T	0.35307	0.0927	N	0.04880	-0.145	0.31131	N	0.70777	B	0.14805	0.011	B	0.11329	0.006	T	0.28996	-1.0026	10	0.22706	T	0.39	.	7.3061	0.26449	0.1094:0.1729:0.7177:0.0	.	666	P52732	KIF11_HUMAN	N	666	ENSP00000260731:D666N	ENSP00000260731:D666N	D	+	1	0	KIF11	94387041	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	2.472000	0.45136	0.957000	0.37930	0.655000	0.94253	GAT	KIF11	-	NULL		0.313	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523		94397061	+1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF23	9493	genome.wustl.edu	37	15	69728997	69728997	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:69728997G>A	ENST00000260363.4	+	14	1608	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	KIF23_ENST00000537891.1_Silent_p.L314L|KIF23_ENST00000352331.4_Silent_p.L497L|KIF23_ENST00000558585.1_Silent_p.L314L|KIF23_ENST00000395392.2_Silent_p.L497L|KIF23_ENST00000559279.1_Silent_p.L497L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	497					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCCAAGGCTGATTGAAGCCT	0.353																																																	0													93.0	80.0	84.0					15																	69728997		2199	4298	6497	SO:0001819	synonymous_variant	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1491G>A	15.37:g.69728997G>A			Q8WVP0	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L497	ENST00000260363.4	37	c.1491	CCDS32278.1	15																																																																																			KIF23	-	NULL		0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69728997	+1	no_errors	ENST00000260363	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF2C	11004	genome.wustl.edu	37	1	45218872	45218872	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:45218872G>C	ENST00000372224.4	+	6	621	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000372222.3_Missense_Mutation_p.E57Q|KIF2C_ENST00000372217.1_Missense_Mutation_p.E116Q|KIF2C_ENST00000493027.1_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	170	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGAGGAGATGGAAGAGCAAGT	0.547																																																	0													187.0	158.0	167.0					1																	45218872		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.508G>C	1.37:g.45218872G>C	ENSP00000361298:p.Glu170Gln		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E170Q	ENST00000372224.4	37	c.508	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	g	13.24	2.178867	0.38511	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.75050	-0.86;0.95;-0.9;-0.88	5.26	5.26	0.73747	.	0.230082	0.31257	N	0.007965	T	0.57695	0.2071	N	0.14661	0.345	0.39386	D	0.96633	B;P	0.48764	0.058;0.915	B;B	0.42062	0.049;0.374	T	0.58272	-0.7665	10	0.18276	T	0.48	.	14.2382	0.65941	0.0:0.0:1.0:0.0	.	116;170	Q99661-2;Q99661	.;KIF2C_HUMAN	Q	170;161;57;116	ENSP00000361298:E170Q;ENSP00000395050:E161Q;ENSP00000361296:E57Q;ENSP00000361291:E116Q	ENSP00000361291:E116Q	E	+	1	0	KIF2C	44991459	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.515000	0.60489	2.750000	0.94351	0.561000	0.74099	GAA	KIF2C	-	NULL		0.547	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	G	NM_006845		45218872	+1	no_errors	ENST00000372224	ensembl	human	known	70_37	missense	SNP	0.997	C
KIN	22944	genome.wustl.edu	37	10	7805709	7805709	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:7805709G>A	ENST00000379562.4	-	10	942	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	KIN_ENST00000535925.1_Missense_Mutation_p.H299Y|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.H193Y	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TTTTTCTTATGATATTTCTCT	0.303																																																	0													169.0	151.0	157.0					10																	7805709		2201	4299	6500	SO:0001583	missense	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.895C>T	10.37:g.7805709G>A	ENSP00000368881:p.His299Tyr			Missense_Mutation	SNP	pfam_DNA/RNA-bd_Kin17_cons_domain	p.H299Y	ENST00000379562.4	37	c.895	CCDS7080.1	10	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456890	0.01071	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.0	4.09	0.47781	.	0.105873	0.64402	N	0.000004	T	0.07234	0.0183	N	0.00047	-2.435	0.49389	D	0.99978	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.34527	-0.9825	9	0.02654	T	1	-19.6607	9.0502	0.36372	0.1727:0.0:0.8273:0.0	.	193;299;299	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	Y	299;299;193	.	ENSP00000368881:H299Y	H	-	1	0	KIN	7845715	1.000000	0.71417	0.995000	0.50966	0.313000	0.28021	3.799000	0.55529	1.238000	0.43771	0.655000	0.94253	CAT	KIN	-	NULL		0.303	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2	G	NM_012311		7805709	-1	no_errors	ENST00000379562	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL36	79786	genome.wustl.edu	37	16	84695382	84695382	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:84695382C>T	ENST00000564996.1	+	5	1635	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	KLHL36_ENST00000258157.5_Silent_p.I435I	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	498					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCTACTCCATCGGGGGCAGCG	0.682																																																	0													68.0	61.0	63.0					16																	84695382		2199	4300	6499	SO:0001819	synonymous_variant	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1494C>T	16.37:g.84695382C>T			Q8N5G6|Q9H9U6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I498	ENST00000564996.1	37	c.1494	CCDS10948.1	16																																																																																			KLHL36	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.682	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	C			84695382	+1	no_errors	ENST00000564996	ensembl	human	known	70_37	silent	SNP	0.993	T
KLK2	3817	genome.wustl.edu	37	19	51380002	51380002	+	Missense_Mutation	SNP	G	G	A	rs371591640		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:51380002G>A	ENST00000325321.3	+	3	706	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	KLK2_ENST00000358049.4_Missense_Mutation_p.E161K|KLK2_ENST00000391810.2_Missense_Mutation_p.E59K|AC037199.1_ENST00000594218.1_5'Flank			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGCAGCATCGAACCAGAGGA	0.642			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	41.0	41.0	41.0		481,481	-6.0	0.0	19		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KLK2	NM_001002231.1,NM_005551.3	56,56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	161/224,161/262	51380002	2,13004	2203	4300	6503	SO:0001583	missense	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.481G>A	19.37:g.51380002G>A	ENSP00000313581:p.Glu161Lys		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E161K	ENST00000325321.3	37	c.481	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	G	6.504	0.461142	0.12342	2.27E-4	1.16E-4	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	D;D;D	0.88354	-2.37;-2.37;-2.37	3.01	-6.02	0.02192	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.262420	0.02598	N	0.100780	T	0.76154	0.3948	N	0.20574	0.59	0.09310	N	1	B;B;B	0.18166	0.026;0.011;0.008	B;B;B	0.13407	0.009;0.002;0.002	T	0.70353	-0.4895	10	0.06365	T	0.9	.	7.4518	0.27242	0.1921:0.4951:0.3128:0.0	.	144;161;161	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	K	161;161;59	ENSP00000313581:E161K;ENSP00000350748:E161K;ENSP00000375686:E59K	ENSP00000313581:E161K	E	+	1	0	KLK2	56071814	.	.	0.000000	0.03702	0.105000	0.19272	.	.	-1.938000	0.01046	-0.714000	0.03626	GAA	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.642	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	G	NM_005551.3		51380002	+1	no_errors	ENST00000325321	ensembl	human	known	70_37	missense	SNP	0.000	A
KLRD1	3824	genome.wustl.edu	37	12	10464197	10464197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:10464197C>T	ENST00000381907.4	+	5	500	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	KLRD1_ENST00000543777.1_Nonsense_Mutation_p.Q79*|KLRD1_ENST00000381908.3_Nonsense_Mutation_p.Q100*|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.Q100*|KLRD1_ENST00000350274.5_Nonsense_Mutation_p.Q69*|KLRD1_ENST00000543420.1_Nonsense_Mutation_p.Q100*|KLRD1_ENST00000538997.1_3'UTR	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	100	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCTTCAGCTTCAAAACACAGA	0.383																																																	0													71.0	65.0	67.0					12																	10464197		2203	4300	6503	SO:0001587	stop_gained	3824			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.298C>T	12.37:g.10464197C>T	ENSP00000371332:p.Gln100*		O43321|O43773|Q9UBE3|Q9UEQ0	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q100*	ENST00000381907.4	37	c.298	CCDS8621.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536586	0.85812	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543420;ENST00000543777	.	.	.	5.77	-3.1	0.05315	.	0.986917	0.08258	N	0.973491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	1.3173	0.02110	0.3653:0.2457:0.2366:0.1524	.	.	.	.	X	69;100;100;100;69;100;79	.	ENSP00000338130:Q100X	Q	+	1	0	KLRD1	10355464	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-2.931000	0.00688	-0.175000	0.10725	0.655000	0.94253	CAA	KLRD1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.383	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	C	NM_002262		10464197	+1	no_errors	ENST00000381908	ensembl	human	known	70_37	nonsense	SNP	0.000	T
KNTC1	9735	genome.wustl.edu	37	12	123078605	123078605	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:123078605G>A	ENST00000333479.7	+	43	4422				KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAGATGAAGAGGCAATGGT	0.408																																																	0																																										SO:0001627	intron_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4246-218G>A	12.37:g.123078605G>A			A7E2C4|B3KSG2	RNA	SNP	-	NULL	ENST00000333479.7	37	NULL	CCDS45002.1	12																																																																																			KNTC1	-	-		0.408	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123078605	+1	no_errors	ENST00000545065	ensembl	human	known	70_37	rna	SNP	0.001	A
KNTC1	9735	genome.wustl.edu	37	12	123078723	123078723	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:123078723G>A	ENST00000333479.7	+	43	4422				KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTTTCTTTTTGAAAAAGGATA	0.383																																																	0																																										SO:0001627	intron_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4246-100G>A	12.37:g.123078723G>A			A7E2C4|B3KSG2	RNA	SNP	-	NULL	ENST00000333479.7	37	NULL	CCDS45002.1	12																																																																																			KNTC1	-	-		0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123078723	+1	no_errors	ENST00000545065	ensembl	human	known	70_37	rna	SNP	0.000	A
KRT71	112802	genome.wustl.edu	37	12	52943902	52943902	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:52943902C>T	ENST00000267119.5	-	2	636	c.567G>A	c.(565-567)cgG>cgA	p.R189R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	189	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCAGCTGCTTCCGCAGGTTGC	0.592																																																	0													194.0	176.0	182.0					12																	52943902		2203	4300	6503	SO:0001819	synonymous_variant	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.567G>A	12.37:g.52943902C>T			B3KVC1|Q3SY85|Q96DU2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R189	ENST00000267119.5	37	c.567	CCDS8831.1	12																																																																																			KRT71	-	pfam_F		0.592	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	C	NM_033448		52943902	-1	no_errors	ENST00000267119	ensembl	human	known	70_37	silent	SNP	0.992	T
KRT76	51350	genome.wustl.edu	37	12	53170902	53170902	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:53170902G>A	ENST00000332411.2	-	1	227	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	58	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGGTTGTAGAGGCTGCGAC	0.667																																																	0													91.0	114.0	106.0					12																	53170902		2203	4300	6503	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.174C>T	12.37:g.53170902G>A			B4DRR3|Q7Z795	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L58	ENST00000332411.2	37	c.174	CCDS8838.1	12																																																																																			KRT76	-	NULL		0.667	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	G	NM_015848		53170902	-1	no_errors	ENST00000332411	ensembl	human	known	70_37	silent	SNP	1.000	A
KNTC1	9735	genome.wustl.edu	37	12	123082420	123082420	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:123082420G>C	ENST00000333479.7	+	44	4675	c.4498G>C	c.(4498-4500)Gag>Cag	p.E1500Q	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1500					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAAGCCCTTGAGATGGTTCC	0.498																																																	0													85.0	86.0	86.0					12																	123082420		1960	4157	6117	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4498G>C	12.37:g.123082420G>C	ENSP00000328236:p.Glu1500Gln		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E1500Q	ENST00000333479.7	37	c.4498	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782531	0.31502	.	.	ENSG00000184445	ENST00000333479;ENST00000423927	T;T	0.45276	2.47;0.9	5.71	5.71	0.89125	.	0.106321	0.64402	D	0.000005	T	0.32164	0.0820	L	0.39020	1.185	0.80722	D	1	P	0.35456	0.502	B	0.31016	0.123	T	0.07271	-1.0781	10	0.30854	T	0.27	-17.969	14.0824	0.64932	0.0738:0.0:0.9262:0.0	.	1500	P50748	KNTC1_HUMAN	Q	1500;59	ENSP00000328236:E1500Q;ENSP00000397140:E59Q	ENSP00000328236:E1500Q	E	+	1	0	KNTC1	121648373	0.969000	0.33509	0.251000	0.24312	0.953000	0.61014	1.910000	0.39927	2.709000	0.92574	0.655000	0.94253	GAG	KNTC1	-	NULL		0.498	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123082420	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.646	C
KRTAP21-3	100288323	genome.wustl.edu	37	21	32090931	32090931	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:32090931C>T	ENST00000444335.1	-	1	164	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_001164435.1	NP_001157907.1	Q3LHN1	KR213_HUMAN	keratin associated protein 21-3	49						intermediate filament (GO:0005882)											CAAAAAATATCAGATCATCTA	0.358																																																	0													51.0	48.0	49.0					21																	32090931		692	1591	2283	SO:0001819	synonymous_variant	100288323			AB180042	CCDS54481.1	21q22.11	2011-02-24			ENSG00000231068	ENSG00000231068		"""Keratin associated proteins"""	34216	protein-coding gene	gene with protein product							Standard	NM_001164435		Approved		uc021wii.1	Q3LHN1	OTTHUMG00000125533	ENST00000444335.1:c.147G>A	21.37:g.32090931C>T				Silent	SNP	NULL	p.L49	ENST00000444335.1	37	c.147	CCDS54481.1	21																																																																																			KRTAP21-3	-	NULL		0.358	KRTAP21-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP21-3	HGNC	protein_coding	OTTHUMT00000246864.1	C	XM_002343741		32090931	-1	no_errors	ENST00000444335	ensembl	human	known	70_37	silent	SNP	0.000	T
KRTAP10-5	386680	genome.wustl.edu	37	21	46000241	46000241	+	Missense_Mutation	SNP	G	G	A	rs587619616		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:46000241G>A	ENST00000400372.1	-	1	240	c.215C>T	c.(214-216)tCg>tTg	p.S72L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	72	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ctggcagcacgagggcgtgca	0.697													.|||	1	0.000199681	0.0	0.0	5008	,	,		17850	0.0		0.0	False		,,,				2504	0.001																0													45.0	48.0	47.0					21																	46000241		2201	4295	6496	SO:0001583	missense	386680			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.215C>T	21.37:g.46000241G>A	ENSP00000383223:p.Ser72Leu		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.S72L	ENST00000400372.1	37	c.215	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	g	2.782	-0.253388	0.05829	.	.	ENSG00000241123	ENST00000400372	T	0.00922	5.54	2.06	-1.21	0.09524	.	.	.	.	.	T	0.01029	0.0034	M	0.73217	2.22	0.09310	N	1	P	0.42518	0.782	B	0.29267	0.1	T	0.44967	-0.9293	9	0.45353	T	0.12	.	4.9855	0.14187	0.5627:0.0:0.4373:0.0	.	72	P60370	KR105_HUMAN	L	72	ENSP00000383223:S72L	ENSP00000383223:S72L	S	-	2	0	KRTAP10-5	44824669	0.992000	0.36948	0.405000	0.26409	0.004000	0.04260	-0.235000	0.09016	-0.172000	0.10779	-0.403000	0.06358	TCG	KRTAP10-5	-	NULL		0.697	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	G			46000241	-1	no_errors	ENST00000400372	ensembl	human	known	70_37	missense	SNP	0.037	A
LAMA1	284217	genome.wustl.edu	37	18	7043261	7043261	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:7043261C>T	ENST00000389658.3	-	8	1213	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	374	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E374K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATACAGGTTTCACAGTTGATT	0.408																																																	1	Substitution - Missense(1)	lung(1)											256.0	234.0	242.0					18																	7043261		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1120G>A	18.37:g.7043261C>T	ENSP00000374309:p.Glu374Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E374K	ENST00000389658.3	37	c.1120	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550062	0.86127	.	.	ENSG00000101680	ENST00000389658	T	0.65178	-0.14	5.76	4.87	0.63330	EGF-like, laminin (4);	0.055265	0.64402	D	0.000001	D	0.86781	0.6015	H	0.98027	4.13	0.58432	D	0.999993	D	0.69078	0.997	D	0.70487	0.969	D	0.92191	0.5759	10	0.72032	D	0.01	.	17.0129	0.86411	0.0:0.8726:0.1274:0.0	.	374	P25391	LAMA1_HUMAN	K	374	ENSP00000374309:E374K	ENSP00000374309:E374K	E	-	1	0	LAMA1	7033261	1.000000	0.71417	0.994000	0.49952	0.800000	0.45204	4.002000	0.57053	1.525000	0.49052	0.650000	0.86243	GAA	LAMA1	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7043261	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	1.000	T
LANCL2	55915	genome.wustl.edu	37	7	55492961	55492961	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:55492961G>A	ENST00000254770.2	+	7	1601	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	341					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TTAAGGAGGAGAAGTACTTGA	0.458																																																	0													117.0	111.0	113.0					7																	55492961		2203	4300	6503	SO:0001819	synonymous_variant	55915			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1023G>A	7.37:g.55492961G>A			B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Silent	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.E341	ENST00000254770.2	37	c.1023	CCDS5517.1	7																																																																																			LANCL2	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk		0.458	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	G	NM_018697		55492961	+1	no_errors	ENST00000254770	ensembl	human	known	70_37	silent	SNP	0.998	A
LAMB1	3912	genome.wustl.edu	37	7	107626622	107626622	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:107626622C>G	ENST00000222399.6	-	6	840	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	LAMB1_ENST00000393560.1_Missense_Mutation_p.E204Q|LAMB1_ENST00000393561.1_Missense_Mutation_p.E228Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	204	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAACAAACCTCTCCTTCAGTT	0.368																																																	0													111.0	110.0	111.0					7																	107626622		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.610G>C	7.37:g.107626622C>G	ENSP00000222399:p.Glu204Gln		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E204Q	ENST00000222399.6	37	c.610	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047654	0.93740	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.80214	-1.35;-1.35;-1.35	5.72	5.72	0.89469	Laminin, N-terminal (3);	.	.	.	.	D	0.90403	0.6996	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.90828	0.4714	9	0.87932	D	0	.	19.8874	0.96916	0.0:1.0:0.0:0.0	.	204;204;228	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	Q	228;204;204	ENSP00000377191:E228Q;ENSP00000222399:E204Q;ENSP00000377190:E204Q	ENSP00000222399:E204Q	E	-	1	0	LAMB1	107413858	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.697000	0.92050	0.557000	0.71058	GAG	LAMB1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.368	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107626622	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	missense	SNP	1.000	G
LARP1B	55132	genome.wustl.edu	37	4	129120696	129120696	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:129120696G>A	ENST00000326639.6	+	16	2317	c.2106G>A	c.(2104-2106)ttG>ttA	p.L702L	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Silent_p.L121L|LARP1B_ENST00000264584.5_Silent_p.L643L|LARP1B_ENST00000441387.1_Silent_p.L702L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	702						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ATGAACTTTTGAAGGAAAATG	0.393																																																	0													95.0	86.0	89.0					4																	129120696		2203	4300	6503	SO:0001819	synonymous_variant	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2106G>A	4.37:g.129120696G>A			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.L702	ENST00000326639.6	37	c.2106	CCDS3738.1	4																																																																																			LARP1B	-	NULL		0.393	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	G	NM_018078		129120696	+1	no_errors	ENST00000326639	ensembl	human	known	70_37	silent	SNP	1.000	A
LCT	3938	genome.wustl.edu	37	2	136575357	136575357	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:136575357C>T	ENST00000264162.2	-	6	1271	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	421	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E421K(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCTTGGCCCTCAGTGGTGTTC	0.642																																																	1	Substitution - Missense(1)	lung(1)											68.0	65.0	66.0					2																	136575357		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1261G>A	2.37:g.136575357C>T	ENSP00000264162:p.Glu421Lys		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E421K	ENST00000264162.2	37	c.1261	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	6.062	0.379846	0.11466	.	.	ENSG00000115850	ENST00000264162	T	0.31769	1.48	5.77	-3.96	0.04106	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.117000	0.01277	N	0.009628	T	0.12902	0.0313	N	0.04260	-0.245	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.32929	-0.9888	10	0.06625	T	0.88	-0.8159	8.82	0.35020	0.0:0.4248:0.2921:0.2831	.	421	P09848	LPH_HUMAN	K	421	ENSP00000264162:E421K	ENSP00000264162:E421K	E	-	1	0	LCT	136291827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.741000	0.04855	-0.278000	0.09180	-0.302000	0.09304	GAG	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.642	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136575357	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	missense	SNP	0.000	T
LDB3	11155	genome.wustl.edu	37	10	88441498	88441498	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:88441498G>C	ENST00000361373.4	+	4	648	c.627G>C	c.(625-627)gaG>gaC	p.E209D	LDB3_ENST00000372056.4_Missense_Mutation_p.E209D|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.E209D|LDB3_ENST00000542786.1_Missense_Mutation_p.E209D|LDB3_ENST00000429277.2_Missense_Mutation_p.E209D|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000372066.3_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCTGAGGGAGATGGCTCAGA	0.632																																																	0													64.0	72.0	69.0					10																	88441498		2203	4300	6503	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.627G>C	10.37:g.88441498G>C	ENSP00000355296:p.Glu209Asp			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E209D	ENST00000361373.4	37	c.627	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481359	0.44147	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T	0.56776	0.67;0.79;0.99;0.44;0.49	5.67	5.67	0.87782	ZASP (1);	0.000000	0.32918	N	0.005497	T	0.64193	0.2576	M	0.62723	1.935	0.51012	D	0.999906	D;B;D;D;B	0.69078	0.997;0.004;0.995;0.997;0.145	D;B;D;D;B	0.72625	0.978;0.024;0.948;0.978;0.101	T	0.59215	-0.7496	10	0.16896	T	0.51	.	9.9345	0.41543	0.1554:0.0:0.8446:0.0	.	209;209;209;209;209	B4E3K3;F5H0C2;O75112-4;O75112;O75112-5	.;.;.;LDB3_HUMAN;.	D	209	ENSP00000401437:E209D;ENSP00000361126:E209D;ENSP00000311913:E209D;ENSP00000355296:E209D;ENSP00000438866:E209D	ENSP00000311913:E209D	E	+	3	2	LDB3	88431478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.132000	0.57977	2.676000	0.91093	0.655000	0.94253	GAG	LDB3	-	smart_ZASP		0.632	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	G			88441498	+1	no_errors	ENST00000429277	ensembl	human	known	70_37	missense	SNP	1.000	C
LDLRAD4	753	genome.wustl.edu	37	18	13645378	13645378	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:13645378G>A	ENST00000359446.5	+	6	1111	c.643G>A	c.(643-645)Gac>Aac	p.D215N	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.D197N|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.D215N|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.D178N|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.D138N|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.D160N|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.D117N|RP11-701H16.4_ENST00000588397.1_RNA	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	215					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										AACCATATTTGACAGTGATTT	0.572																																																	0													78.0	86.0	83.0					18																	13645378		2203	4300	6503	SO:0001583	missense	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.643G>A	18.37:g.13645378G>A	ENSP00000352420:p.Asp215Asn		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.D215N	ENST00000359446.5	37	c.643	CCDS32793.1	18	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719132	0.89205	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.40225	1.06;1.04	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.998;0.997;0.998;0.999;0.998	T	0.73685	-0.3905	10	0.87932	D	0	-11.7118	15.1129	0.72372	0.0:0.0:0.8574:0.1426	.	139;157;160;178;197;215	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	N	215;197;178;160;157;139	ENSP00000354753:D215N;ENSP00000382741:D197N	ENSP00000352420:D178N	D	+	1	0	C18orf1	13635378	1.000000	0.71417	0.895000	0.35142	0.966000	0.64601	9.480000	0.97931	1.171000	0.42768	0.655000	0.94253	GAC	LDLRAD4	-	NULL		0.572	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	G	NM_181481		13645378	+1	no_errors	ENST00000359446	ensembl	human	known	70_37	missense	SNP	1.000	A
LHFPL1	340596	genome.wustl.edu	37	X	111914586	111914586	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:111914586G>A	ENST00000371968.3	-	2	272	c.33C>T	c.(31-33)ctC>ctT	p.L11L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L11L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	11						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGAAGGCCCAGAGGGTTCCCA	0.522																																																	0													175.0	165.0	168.0					X																	111914586		2203	4300	6503	SO:0001819	synonymous_variant	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.33C>T	X.37:g.111914586G>A			A8K1N1|Q496M9|Q496N0|Q6UXU2	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.L11	ENST00000371968.3	37	c.33	CCDS14562.1	X																																																																																			LHFPL1	-	pfam_Lipome_HGMIC_fus_partner-like		0.522	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL1	HGNC	protein_coding	OTTHUMT00000057947.1	G	NM_178175		111914586	-1	no_errors	ENST00000371968	ensembl	human	known	70_37	silent	SNP	1.000	A
CHD4	1108	genome.wustl.edu	37	12	6692553	6692553	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:6692553G>A	ENST00000357008.2	-	26	4043				CHD4_ENST00000544484.1_Intron|SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_Intron|CHD4_ENST00000309577.6_Intron|CHD4_ENST00000544040.1_Intron	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCTGGGACAGAGGGAGGGCC	0.527																																					Colon(32;586 792 4568 16848 45314)												0													110.0	108.0	109.0					12																	6692553		2203	4300	6503	SO:0001627	intron_variant	100127974			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3880-9C>T	12.37:g.6692553G>A			Q8IXZ5	RNA	SNP	-	NULL	ENST00000357008.2	37	NULL	CCDS8552.1	12																																																																																			RP5-940J5.6	-	-		0.527	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100127974	Clone_based_vega_gene	protein_coding		G	NM_001273		6692553	+1	no_errors	ENST00000501075	ensembl	human	known	70_37	rna	SNP	1.000	A
SPTBN5	51332	genome.wustl.edu	37	15	42187240	42187240	+	5'Flank	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42187240C>T	ENST00000320955.6	-	0	0				RP11-23P13.6_ENST00000568861.1_RNA|RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.7_ENST00000605942.1_lincRNA|RP11-23P13.6_ENST00000562920.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGCTGTCCTCTCCCTGCCAG	0.687																																																	0																																										SO:0001631	upstream_gene_variant	100289090			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6			15.37:g.42187240C>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000320955.6	37	NULL		15	.	.	.	.	.	.	.	.	.	.	C	6.016	0.371265	0.11409	.	.	ENSG00000174171	ENST00000309874	.	.	.	2.62	0.214	0.15249	.	.	.	.	.	T	0.37293	0.0998	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48186	-0.9057	4	0.87932	D	0	.	3.2909	0.06948	0.0:0.5466:0.2774:0.176	.	.	.	.	F	20	.	ENSP00000311642:L20F	L	+	1	0	AC020659.1	39974532	0.000000	0.05858	0.040000	0.18447	0.023000	0.10783	-1.520000	0.02241	0.362000	0.24319	-0.258000	0.10820	CTC	RP11-23P13.6	-	-		0.687	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	LOC100289090	Clone_based_vega_gene	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42187240	+1	no_errors	ENST00000309874	ensembl	human	known	70_37	rna	SNP	0.010	T
LOC100505782	100505782	genome.wustl.edu	37	17	39564775	39564775	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:39564775C>T	ENST00000432258.1	+	0	189				AC003958.2_ENST00000430006.1_RNA																							AGCCAGAGCTCACCTGCAAAG	0.517																																																	0																																												100505782																															17.37:g.39564775C>T				RNA	SNP	-	NULL	ENST00000432258.1	37	NULL		17																																																																																			AC003958.2	-	-		0.517	AC003958.2-002	KNOWN	basic	antisense	LOC100505782	Clone_based_vega_gene	antisense	OTTHUMT00000257900.2	C			39564775	+1	no_errors	ENST00000430006	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-485M7.3	0	genome.wustl.edu	37	5	132446890	132446890	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:132446890G>C	ENST00000507389.1	-	0	534																											GCAGAGCCAAGAATTTTAATG	0.448											OREG0016775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												100506102																															5.37:g.132446890G>C		1595		RNA	SNP	-	NULL	ENST00000507389.1	37	NULL		5																																																																																			RP11-485M7.3	-	-		0.448	RP11-485M7.3-001	KNOWN	basic	lincRNA	LOC100506102	Clone_based_vega_gene	lincRNA	OTTHUMT00000370160.1	G			132446890	-1	no_errors	ENST00000507389	ensembl	human	known	70_37	rna	SNP	0.001	C
LOC151174	151174	genome.wustl.edu	37	2	239133938	239133938	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:239133938G>A	ENST00000409070.1	-	3	548	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	AC016757.3_ENST00000334973.4_Missense_Mutation_p.P90S|AC016757.3_ENST00000409376.1_Missense_Mutation_p.P93S|AC016757.3_ENST00000470346.1_5'UTR|AC016757.3_ENST00000409942.1_Missense_Mutation_p.P93S																							GACCTCAGCGGAGCCTGGGAG	0.662																																																	0																																										SO:0001583	missense	151174																														ENST00000409070.1:c.337C>T	2.37:g.239133938G>A	ENSP00000386947:p.Pro113Ser			Missense_Mutation	SNP	NULL	p.P90S	ENST00000409070.1	37	c.268		2	.	.	.	.	.	.	.	.	.	.	G	9.041	0.989806	0.18966	.	.	ENSG00000186235	ENST00000409376;ENST00000334973;ENST00000409070;ENST00000409942	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	1.62	0.71	0.18157	.	.	.	.	.	T	0.63651	0.2529	.	.	.	.	.	.	B	0.24483	0.104	B	0.17979	0.02	T	0.60151	-0.7319	7	0.87932	D	0	.	4.0298	0.09703	0.2271:0.0:0.7729:0.0	.	113	E7EUL1	.	S	93;90;113;93	ENSP00000386409:P93S;ENSP00000334143:P90S;ENSP00000386947:P113S;ENSP00000386755:P93S	ENSP00000334143:P90S	P	-	1	0	AC016757.3	238798677	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.038000	0.13862	0.234000	0.21139	0.563000	0.77884	CCG	AC016757.3	-	NULL		0.662	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	LOC151174	Clone_based_vega_gene	protein_coding	OTTHUMT00000328480.1	G			239133938	-1	no_errors	ENST00000334973	ensembl	human	known	70_37	missense	SNP	0.000	A
LINGO1	84894	genome.wustl.edu	37	15	77934197	77934197	+	Intron	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:77934197G>T	ENST00000561030.1	-	4	446				RP11-307C19.3_ENST00000558691.1_RNA			Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1						central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCCCAGCCTGATAGGCTGAg	0.597																																																	0																																										SO:0001627	intron_variant	253044			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000561030.1:c.12-25955C>A	15.37:g.77934197G>T			D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	RNA	SNP	-	NULL	ENST00000561030.1	37	NULL		15																																																																																			RP11-307C19.3	-	-		0.597	LINGO1-002	KNOWN	basic	protein_coding	LOC253044	Clone_based_vega_gene	protein_coding	OTTHUMT00000419548.2	G	NM_032808		77934197	+1	no_errors	ENST00000558691	ensembl	human	known	70_37	rna	SNP	0.002	T
LRRC74B	400891	genome.wustl.edu	37	22	21406603	21406603	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:21406603C>T	ENST00000342608.4	+	5	715	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	AC002472.13_ENST00000497328.1_3'UTR|AC002472.13_ENST00000543388.1_3'UTR																lung(2)	2						GAGCTGGAATCACCTCCGGGG	0.592																																																	0																																										SO:0001583	missense	400891																														ENST00000342608.4:c.688C>T	22.37:g.21406603C>T	ENSP00000341179:p.His230Tyr			Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.H230Y	ENST00000342608.4	37	c.688		22	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552316	0.45487	.	.	ENSG00000187905	ENST00000342608;ENST00000442047	T;T	0.52754	0.65;0.65	3.97	2.96	0.34315	.	.	.	.	.	T	0.47746	0.1462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38693	-0.9649	6	0.37606	T	0.19	-7.1353	7.4519	0.27244	0.0:0.8833:0.0:0.1167	.	.	.	.	Y	230	ENSP00000341179:H230Y;ENSP00000394078:H230Y	ENSP00000341179:H230Y	H	+	1	0	AC002472.13	19736603	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.484000	0.35508	1.256000	0.44068	0.462000	0.41574	CAC	AC002472.13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.592	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	LOC400891	Clone_based_vega_gene	protein_coding		C			21406603	+1	no_errors	ENST00000342608	ensembl	human	known	70_37	missense	SNP	1.000	T
LOC645513	645513	genome.wustl.edu	37	4	120384132	120384132	+	IGR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:120384132G>C								RP11-33B1.3 (5700 upstream) : RP11-33B1.1 (25665 downstream)																							gcctttTGTTGAGGTAATTTC	0.363																																																	0																																										SO:0001628	intergenic_variant	645513																															4.37:g.120384132G>C				RNA	SNP	-	NULL		37	NULL		4																																																																																			RP11-33B1.1	-	-	0	0.363					LOC645513	Clone_based_vega_gene			G			120384132	+1	no_errors	ENST00000508519	ensembl	human	known	70_37	rna	SNP	0.338	C
LOC645752	645752	genome.wustl.edu	37	15	78208211	78208211	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:78208211C>T	ENST00000565869.1	+	0	0				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							AATCCAAGCTCTCGTCTCTCC	0.602																																																	0																																												645752																															15.37:g.78208211C>T				RNA	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			RP11-114H24.2	-	-		0.602	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	C			78208211	-1	no_errors	ENST00000563349	ensembl	human	known	70_37	rna	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133779077	133779077	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:133779077G>T	ENST00000533871.2	-	20	4431	c.4201C>A	c.(4201-4203)Cct>Act	p.P1401T	IGSF9B_ENST00000564347.1_5'UTR	NM_001277285.1	NP_001264214.1	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	0					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGGTCAGGACGAGAATGT	0.572																																																	0																																										SO:0001583	missense	646543			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000533871.2:c.4201C>A	11.37:g.133779077G>T	ENSP00000436552:p.Pro1401Thr		G5EA26	Missense_Mutation	SNP	NULL	p.P83T	ENST00000533871.2	37	c.247		11																																																																																			RP11-259P6.1	-	NULL		0.572	IGSF9B-002	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	LOC646543	Clone_based_vega_gene	protein_coding	OTTHUMT00000471431.1	G	XM_290502		133779077	-1	no_errors	ENST00000564347	ensembl	human	putative	70_37	missense	SNP	0.976	T
RP11-469N6.1	0	genome.wustl.edu	37	11	134605754	134605754	+	lincRNA	SNP	C	C	T	rs377412522	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:134605754C>T	ENST00000513405.1	+	0	265																											AACTGGGGTTCGTGGGCAGAG	0.642													C|||	240	0.0479233	0.0363	0.0605	5008	,	,		16179	0.0129		0.1054	False		,,,				2504	0.0317																0																																												729305																															11.37:g.134605754C>T				RNA	SNP	-	NULL	ENST00000513405.1	37	NULL		11																																																																																			RP11-469N6.1	-	-		0.642	RP11-469N6.1-001	KNOWN	basic|exp_conf	lincRNA	LOC729305	Clone_based_vega_gene	lincRNA	OTTHUMT00000382010.2	C			134605754	+1	no_errors	ENST00000513405	ensembl	human	putative	70_37	rna	SNP	0.567	T
IGF2R	3482	genome.wustl.edu	37	6	160515007	160515007	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:160515007G>C	ENST00000356956.1	+	45	6803				RP11-288H12.3_ENST00000569097.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor						insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AACAGAAAATGAGCATCTGAT	0.448																																																	0																																										SO:0001627	intron_variant	729603			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6656-2464G>C	6.37:g.160515007G>C			Q7Z7G9|Q96PT5	RNA	SNP	-	NULL	ENST00000356956.1	37	NULL	CCDS5273.1	6																																																																																			RP11-288H12.3	-	-		0.448	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729603	Clone_based_vega_gene	protein_coding	OTTHUMT00000042931.1	G	NM_000876		160515007	+1	no_errors	ENST00000569097	ensembl	human	known	70_37	rna	SNP	1.000	C
RFPL4AL1	729974	genome.wustl.edu	37	19	56284507	56284507	+	Missense_Mutation	SNP	T	T	G	rs73933348	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56284507T>G	ENST00000341750.4	+	3	870	c.826T>G	c.(826-828)Tcc>Gcc	p.S276A		NM_001277397.1	NP_001264326.1	F8VTS6	RFAL1_HUMAN	ret finger protein-like 4A-like 1	276	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)										GATCAATCCATCCACTGCCAG	0.438													N|||	2511	0.501398	0.6415	0.4035	5008	,	,		26727	0.4821		0.336	False		,,,				2504	0.5716																0																																										SO:0001583	missense	729974				CCDS59425.1	19q13.42	2013-02-22			ENSG00000229292	ENSG00000229292			45147	protein-coding gene	gene with protein product							Standard	NM_001277397		Approved		uc031rnc.1	F8VTS6	OTTHUMG00000165450	ENST00000341750.4:c.826T>G	19.37:g.56284507T>G	ENSP00000345151:p.Ser276Ala			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.S276A	ENST00000341750.4	37	c.826	CCDS59425.1	19	.	.	.	.	.	.	.	.	.	.	N	2.915	-0.224391	0.06061	.	.	ENSG00000229292	ENST00000341750	T	0.55588	0.51	1.5	0.26	0.15588	.	.	.	.	.	T	0.19046	0.0457	N	0.04297	-0.235	.	.	.	.	.	.	.	.	.	T	0.26258	-1.0108	6	0.02654	T	1	-36.3353	0.4952	0.00571	0.1934:0.2364:0.3316:0.2386	.	.	.	.	A	276	ENSP00000345151:S276A	ENSP00000345151:S276A	S	+	1	0	CTD-2611O12.2	60976319	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.225000	0.09151	-0.220000	0.09988	-0.672000	0.03802	TCC	CTD-2611O12.2	-	pfscan_B30.2/SPRY		0.438	RFPL4AL1-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	LOC729974	Clone_based_vega_gene	protein_coding	OTTHUMT00000384186.1	T			56284507	+1	no_errors	ENST00000341750	ensembl	human	novel	70_37	missense	SNP	0.000	G
RFPL4AL1	729974	genome.wustl.edu	37	19	56284529	56284529	+	Missense_Mutation	SNP	C	C	A	rs199519773	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56284529C>A	ENST00000341750.4	+	3	892	c.848C>A	c.(847-849)tCt>tAt	p.S283Y		NM_001277397.1	NP_001264326.1	F8VTS6	RFAL1_HUMAN	ret finger protein-like 4A-like 1	283							zinc ion binding (GO:0008270)										GCCCCAGTTTCTTCTGAGGGA	0.418																																																	0																																										SO:0001583	missense	729974				CCDS59425.1	19q13.42	2013-02-22			ENSG00000229292	ENSG00000229292			45147	protein-coding gene	gene with protein product							Standard	NM_001277397		Approved		uc031rnc.1	F8VTS6	OTTHUMG00000165450	ENST00000341750.4:c.848C>A	19.37:g.56284529C>A	ENSP00000345151:p.Ser283Tyr			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.S283Y	ENST00000341750.4	37	c.848	CCDS59425.1	19	.	.	.	.	.	.	.	.	.	.	c	0.166	-1.076594	0.01903	.	.	ENSG00000229292	ENST00000341750	T	0.56776	0.44	1.69	-3.38	0.04883	.	.	.	.	.	T	0.14184	0.0343	N	0.00408	-1.53	.	.	.	.	.	.	.	.	.	T	0.12400	-1.0549	6	0.48119	T	0.1	-15.0261	0.8539	0.01178	0.4823:0.196:0.1409:0.1808	.	.	.	.	Y	283	ENSP00000345151:S283Y	ENSP00000345151:S283Y	S	+	2	0	CTD-2611O12.2	60976341	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.528000	0.06193	-1.463000	0.01904	-2.562000	0.00173	TCT	CTD-2611O12.2	-	NULL		0.418	RFPL4AL1-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	LOC729974	Clone_based_vega_gene	protein_coding	OTTHUMT00000384186.1	C			56284529	+1	no_errors	ENST00000341750	ensembl	human	novel	70_37	missense	SNP	0.000	A
RFPL4AL1	729974	genome.wustl.edu	37	19	56284535	56284535	+	Missense_Mutation	SNP	A	A	G	rs144990325	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56284535A>G	ENST00000341750.4	+	3	898	c.854A>G	c.(853-855)gAg>gGg	p.E285G		NM_001277397.1	NP_001264326.1	F8VTS6	RFAL1_HUMAN	ret finger protein-like 4A-like 1	285							zinc ion binding (GO:0008270)										GTTTCTTCTGAGGGAAAGTAA	0.408																																																	0																																										SO:0001583	missense	729974				CCDS59425.1	19q13.42	2013-02-22			ENSG00000229292	ENSG00000229292			45147	protein-coding gene	gene with protein product							Standard	NM_001277397		Approved		uc031rnc.1	F8VTS6	OTTHUMG00000165450	ENST00000341750.4:c.854A>G	19.37:g.56284535A>G	ENSP00000345151:p.Glu285Gly			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.E285G	ENST00000341750.4	37	c.854	CCDS59425.1	19	.	.	.	.	.	.	.	.	.	.	N	0.881	-0.728609	0.03135	.	.	ENSG00000229292	ENST00000341750	T	0.57273	0.41	.	.	.	.	.	.	.	.	T	0.30386	0.0763	L	0.29908	0.895	.	.	.	.	.	.	.	.	.	T	0.20974	-1.0259	4	0.21540	T	0.41	-31.5182	.	.	.	.	.	.	.	G	285	ENSP00000345151:E285G	ENSP00000345151:E285G	E	+	2	0	CTD-2611O12.2	60976347	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.182000	0.01256	-1.871000	0.01138	-1.895000	0.00532	GAG	CTD-2611O12.2	-	NULL		0.408	RFPL4AL1-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	LOC729974	Clone_based_vega_gene	protein_coding	OTTHUMT00000384186.1	A			56284535	+1	no_errors	ENST00000341750	ensembl	human	novel	70_37	missense	SNP	0.000	G
LPIN1	23175	genome.wustl.edu	37	2	11881504	11881504	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:11881504C>T	ENST00000396099.1	+	0	321				AC012456.4_ENST00000431500.2_RNA|LPIN1_ENST00000425416.2_5'UTR|LPIN1_ENST00000464517.1_3'UTR|LPIN1_ENST00000449576.2_Intron|LPIN1_ENST00000396098.1_5'UTR			Q14693	LPIN1_HUMAN	lipin 1						cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCCAGAATTCAAGGCCACCT	0.428																																																	0																																										SO:0001623	5_prime_UTR_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000396099.1:c.-42C>T	2.37:g.11881504C>T			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	RNA	SNP	-	NULL	ENST00000396099.1	37	NULL		2																																																																																			LPIN1	-	-		0.428	LPIN1-003	PUTATIVE	not_organism_supported|basic	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000277149.1	C	NM_145693		11881504	+1	no_errors	ENST00000464517	ensembl	human	known	70_37	rna	SNP	0.011	T
LRMP	4033	genome.wustl.edu	37	12	25186727	25186727	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:25186727C>G	ENST00000556485.1	+	0	35							Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein						immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CTGTTGACTTCAAACGTAATG	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	4033				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000556485.1:c.*32C>G	12.37:g.25186727C>G			A0AVM2|B4E077|Q8N301	RNA	SNP	-	NULL	ENST00000556485.1	37	NULL		12																																																																																			LRMP	-	-		0.383	LRMP-009	KNOWN	basic	processed_transcript	LRMP	HGNC	protein_coding	OTTHUMT00000410498.1	C	NM_006152		25186727	+1	no_errors	ENST00000556485	ensembl	human	known	70_37	rna	SNP	0.000	G
LRP2	4036	genome.wustl.edu	37	2	170135983	170135983	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:170135983G>A	ENST00000263816.3	-	12	1749	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	LRP2_ENST00000443831.1_Silent_p.V488V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	488					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTATGCGGTTGACCTTGGTTT	0.423																																																	0													121.0	126.0	124.0					2																	170135983		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1464C>T	2.37:g.170135983G>A			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V488	ENST00000263816.3	37	c.1464	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170135983	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	1.000	A
LRP5L	91355	genome.wustl.edu	37	22	25750774	25750774	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:25750774G>A	ENST00000402785.2	-	3	540	c.444C>T	c.(442-444)atC>atT	p.I148I	LRP5L_ENST00000402859.2_Silent_p.I148I|LRP5L_ENST00000444995.3_Silent_p.I148I			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	148					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CATCGACACTGATCGCCTGCA	0.597																																																	0													100.0	89.0	93.0					22																	25750774		2200	4300	6500	SO:0001819	synonymous_variant	91355			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.444C>T	22.37:g.25750774G>A			B0QYF3|B0QYF4|B2RPI5	Silent	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.I148	ENST00000402785.2	37	c.444	CCDS33626.1	22																																																																																			LRP5L	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt		0.597	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	G	NM_182492		25750774	-1	no_errors	ENST00000402785	ensembl	human	known	70_37	silent	SNP	0.944	A
LRRC16A	55604	genome.wustl.edu	37	6	25452491	25452491	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:25452491C>T	ENST00000329474.6	+	8	982				LRRC16A_ENST00000377969.3_Intron	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TCTCCTTCTTCCTATAAGTGA	0.383																																																	0													63.0	64.0	64.0					6																	25452491		876	1991	2867	SO:0001627	intron_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.614+1552C>T	6.37:g.25452491C>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	RNA	SNP	-	NULL	ENST00000329474.6	37	NULL	CCDS54973.1	6																																																																																			LRRC16A	-	-		0.383	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	C	NM_017640		25452491	+1	no_errors	ENST00000461945	ensembl	human	known	70_37	rna	SNP	0.001	T
LRRC37A6P	387646	genome.wustl.edu	37	10	27540266	27540266	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:27540266G>C	ENST00000574842.1	+	0	2004				LRRC37A6P_ENST00000284414.4_RNA																							GTCTGGTTCTGATCCCTGTCC	0.517																																																	0																																												387646																															10.37:g.27540266G>C				RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-		0.517	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	G			27540266	-1	no_errors	ENST00000574795	ensembl	human	known	70_37	rna	SNP	0.014	C
LRRC38	126755	genome.wustl.edu	37	1	13802519	13802519	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:13802519G>A	ENST00000376085.3	-	2	1134	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_001010847.1	NP_001010847.1	Q5VT99	LRC38_HUMAN	leucine rich repeat containing 38	227	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTCACGCAGGGATATCCTCCT	0.547																																																	0																																										SO:0001583	missense	126755			BC016048	CCDS53269.1	1p36.21	2008-02-05			ENSG00000162494	ENSG00000162494			27005	protein-coding gene	gene with protein product		615212				12477932	Standard	NM_001010847		Approved		uc001avb.3	Q5VT99	OTTHUMG00000007918	ENST00000376085.3:c.680C>T	1.37:g.13802519G>A	ENSP00000365253:p.Ser227Phe		Q96B32	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S227F	ENST00000376085.3	37	c.680	CCDS53269.1	1	.	.	.	.	.	.	.	.	.	.	G	1.794	-0.478820	0.04414	.	.	ENSG00000162494	ENST00000376085	T	0.02606	4.23	5.25	0.301	0.15781	Cysteine-rich flanking region, C-terminal (1);	0.416342	0.26457	N	0.024261	T	0.01730	0.0055	N	0.11789	0.175	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46400	-0.9194	10	0.33940	T	0.23	.	8.4288	0.32744	0.7607:0.0:0.2393:0.0	.	227	Q5VT99	LRC38_HUMAN	F	227	ENSP00000365253:S227F	ENSP00000365253:S227F	S	-	2	0	LRRC38	13675106	0.996000	0.38824	0.234000	0.24042	0.851000	0.48451	2.213000	0.42844	0.078000	0.16900	-0.254000	0.11334	TCC	LRRC38	-	smart_Cys-rich_flank_reg_C		0.547	LRRC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC38	HGNC	protein_coding	OTTHUMT00000021793.1	G			13802519	-1	no_errors	ENST00000376085	ensembl	human	known	70_37	missense	SNP	0.103	A
LRRC48	83450	genome.wustl.edu	37	17	17891275	17891275	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:17891275G>A	ENST00000399187.1	+	5	525	c.307G>A	c.(307-309)Gag>Aag	p.E103K	LRRC48_ENST00000313838.8_Missense_Mutation_p.E103K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E103K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E103K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E103K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	103						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGAGACCATCGAGGGGCTGGA	0.547																																																	0													76.0	77.0	77.0					17																	17891275		1995	4162	6157	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.307G>A	17.37:g.17891275G>A	ENSP00000382140:p.Glu103Lys		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.E103K	ENST00000399187.1	37	c.307	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856207	0.91355	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.97	3.99	0.46301	.	0.049164	0.85682	D	0.000000	T	0.64757	0.2627	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.65987	0.94;0.901	T	0.66626	-0.5876	10	0.62326	D	0.03	-23.8575	12.5471	0.56206	0.0836:0.0:0.9164:0.0	.	103;103	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	103	ENSP00000326870:E103K;ENSP00000394020:E103K;ENSP00000382140:E103K;ENSP00000382136:E103K	ENSP00000326870:E103K	E	+	1	0	LRRC48	17832000	1.000000	0.71417	0.951000	0.38953	0.922000	0.55478	6.192000	0.72069	1.058000	0.40530	0.655000	0.94253	GAG	LRRC48	-	NULL		0.547	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	G	NM_031294		17891275	+1	no_errors	ENST00000313838	ensembl	human	known	70_37	missense	SNP	0.986	A
LRRC49	54839	genome.wustl.edu	37	15	71305151	71305151	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:71305151G>C	ENST00000260382.5	+	14	1862	c.1602G>C	c.(1600-1602)caG>caC	p.Q534H	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q222H|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q524H|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q240H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q539H|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q490H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	534						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGGTGACACAGAATGATATGA	0.388																																																	0													147.0	135.0	139.0					15																	71305151		2199	4297	6496	SO:0001583	missense	54839				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1602G>C	15.37:g.71305151G>C	ENSP00000260382:p.Gln534His		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q534H	ENST00000260382.5	37	c.1602	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402714	0.42613	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.35236	1.32;1.32;1.32	5.47	2.4	0.29515	.	0.187919	0.46758	D	0.000266	T	0.40145	0.1105	L	0.57536	1.79	0.39649	D	0.97044	P;D;P;P;P	0.54397	0.898;0.966;0.938;0.898;0.944	B;P;P;P;P	0.51135	0.336;0.631;0.652;0.45;0.66	T	0.26916	-1.0089	10	0.66056	D	0.02	-3.9444	6.7546	0.23505	0.4384:0.0:0.5616:0.0	.	539;506;490;534;524	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	H	524;534;490;506	ENSP00000439600:Q524H;ENSP00000260382:Q534H;ENSP00000414065:Q490H	ENSP00000260382:Q534H	Q	+	3	2	LRRC49	69092205	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	1.990000	0.40717	0.197000	0.20387	0.555000	0.69702	CAG	LRRC49	-	NULL		0.388	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	G	NM_017691		71305151	+1	no_errors	ENST00000260382	ensembl	human	known	70_37	missense	SNP	0.999	C
LRRC4B	94030	genome.wustl.edu	37	19	51022613	51022613	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:51022613C>T	ENST00000599957.1	-	3	554	c.357G>A	c.(355-357)aaG>aaA	p.K119K	LRRC4B_ENST00000389201.3_Silent_p.K119K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	119					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACCAGGTTCTTGCTCAGCT	0.617																																																	0													35.0	37.0	37.0					19																	51022613		2129	4255	6384	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.357G>A	19.37:g.51022613C>T			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K119	ENST00000599957.1	37	c.357	CCDS42595.1	19																																																																																			LRRC4B	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	C	NM_001080457		51022613	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	1.000	T
LRRC4B	94030	genome.wustl.edu	37	19	51022619	51022619	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:51022619C>T	ENST00000599957.1	-	3	548	c.351G>A	c.(349-351)ctG>ctA	p.L117L	LRRC4B_ENST00000389201.3_Silent_p.L117L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	117					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTTCTTGCTCAGCTGCAGAA	0.617																																																	0													34.0	36.0	35.0					19																	51022619		2119	4247	6366	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.351G>A	19.37:g.51022619C>T			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L117	ENST00000599957.1	37	c.351	CCDS42595.1	19																																																																																			LRRC4B	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	C	NM_001080457		51022619	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	0.999	T
LRRC8A	56262	genome.wustl.edu	37	9	131671153	131671153	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:131671153G>A	ENST00000259324.5	+	3	2233	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	LRRC8A_ENST00000372600.4_Silent_p.Q570Q|LRRC8A_ENST00000372599.3_Silent_p.Q570Q	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	570					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCACCTGCAGAAGCTGTCCA	0.587																																																	0													84.0	70.0	75.0					9																	131671153		2203	4300	6503	SO:0001819	synonymous_variant	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1710G>A	9.37:g.131671153G>A			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q570	ENST00000259324.5	37	c.1710	CCDS35155.1	9																																																																																			LRRC8A	-	NULL		0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	G	NM_019594		131671153	+1	no_errors	ENST00000259324	ensembl	human	known	70_37	silent	SNP	1.000	A
LRTM2	654429	genome.wustl.edu	37	12	1940559	1940559	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:1940559C>G	ENST00000543818.1	+	4	1368	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.L176V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.L176V	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	176						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTCCAACCGTCTGCAGAATCT	0.617																																																	0													50.0	55.0	53.0					12																	1940559		2203	4300	6503	SO:0001583	missense	654429			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.526C>G	12.37:g.1940559C>G	ENSP00000446278:p.Leu176Val		A7E2U6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L176V	ENST00000543818.1	37	c.526	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562747	0.45694	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.65916	-0.18;-0.18;-0.18	4.86	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.81095	-0.1088	10	0.72032	D	0.01	.	12.4451	0.55647	0.0:0.7819:0.0:0.2181	.	176	Q8N967	LRTM2_HUMAN	V	176	ENSP00000446278:L176V;ENSP00000299194:L176V;ENSP00000444737:L176V	ENSP00000299194:L176V	L	+	1	2	LRTM2	1810820	1.000000	0.71417	0.995000	0.50966	0.244000	0.25665	2.726000	0.47302	0.857000	0.35407	0.561000	0.74099	CTG	LRTM2	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	C			1940559	+1	no_errors	ENST00000299194	ensembl	human	known	70_37	missense	SNP	1.000	G
LTK	4058	genome.wustl.edu	37	15	41801322	41801322	+	Missense_Mutation	SNP	C	C	T	rs145538913		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:41801322C>T	ENST00000263800.6	-	8	1099	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	LTK_ENST00000561619.1_Missense_Mutation_p.D17N|LTK_ENST00000453182.2_Missense_Mutation_p.D274N|LTK_ENST00000355166.5_Missense_Mutation_p.D274N	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	335					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCTGAAGCGTCGCCCCCTGGA	0.562										TSP Lung(18;0.14)																																							0								C	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	74.0	71.0	72.0		820,1003,820	3.9	0.2	15	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	23,23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	274/735,335/865,274/804	41801322	1,13005	2203	4300	6503	SO:0001583	missense	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1003G>A	15.37:g.41801322C>T	ENSP00000263800:p.Asp335Asn		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D335N	ENST00000263800.6	37	c.1003	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698338	0.15106	2.27E-4	0.0	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.81415	-1.03;-1.49;-0.96	4.81	3.87	0.44632	.	0.000000	0.34603	U	0.003830	T	0.64627	0.2615	L	0.28649	0.875	0.21147	N	0.99977	D;P;D;P	0.55800	0.973;0.897;0.966;0.542	P;B;B;B	0.46320	0.512;0.255;0.378;0.111	T	0.61148	-0.7121	10	0.02654	T	1	.	3.4915	0.07639	0.1782:0.5587:0.172:0.0911	.	274;274;274;335	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	N	335;274;335;274	ENSP00000347293:D274N;ENSP00000263800:D335N;ENSP00000392196:D274N	ENSP00000263800:D335N	D	-	1	0	LTK	39588614	0.850000	0.29656	0.159000	0.22649	0.691000	0.40173	1.452000	0.35156	1.186000	0.42985	0.491000	0.48974	GAC	LTK	-	NULL		0.562	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	C			41801322	-1	no_errors	ENST00000263800	ensembl	human	known	70_37	missense	SNP	0.968	T
LY6H	4062	genome.wustl.edu	37	8	144240337	144240337	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:144240337G>A	ENST00000430474.2	-	3	235	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	LY6H_ENST00000414417.2_Missense_Mutation_p.H45Y|LY6H_ENST00000342752.4_Missense_Mutation_p.H45Y	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	24					nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACAGGCCATGAGCTGGGCAG	0.667																																																	0													90.0	66.0	75.0					8																	144240337		2203	4300	6503	SO:0001583	missense	4062			AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.70C>T	8.37:g.144240337G>A	ENSP00000409899:p.His24Tyr		B2RAD2|J3KQI0|Q6IAX0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.H45Y	ENST00000430474.2	37	c.133	CCDS6396.1	8	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339688	0.41398	.	.	ENSG00000176956	ENST00000430474;ENST00000342752;ENST00000414417	T;T;T	0.68903	-0.36;-0.36;-0.36	3.55	3.55	0.40652	.	0.613584	0.14640	N	0.307269	T	0.61763	0.2373	L	0.58101	1.795	0.41997	D	0.990873	B	0.22604	0.072	B	0.23018	0.043	T	0.63453	-0.6634	10	0.49607	T	0.09	-2.4883	10.9177	0.47146	0.0:0.0:1.0:0.0	.	24	O94772	LY6H_HUMAN	Y	24;45;45	ENSP00000409899:H24Y;ENSP00000342711:H45Y;ENSP00000399485:H45Y	ENSP00000342711:H45Y	H	-	1	0	LY6H	144311712	0.993000	0.37304	0.989000	0.46669	0.995000	0.86356	1.709000	0.37909	2.294000	0.77228	0.561000	0.74099	CAT	LY6H	-	NULL		0.667	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6H	HGNC	protein_coding	OTTHUMT00000337535.1	G			144240337	-1	no_errors	ENST00000342752	ensembl	human	known	70_37	missense	SNP	0.990	A
LY75	4065	genome.wustl.edu	37	2	160741792	160741792	+	Missense_Mutation	SNP	G	G	A	rs370167372		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:160741792G>A	ENST00000263636.4	-	6	953	c.926C>T	c.(925-927)gCa>gTa	p.A309V	LY75_ENST00000554112.1_Missense_Mutation_p.A309V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.A309V|LY75_ENST00000553424.1_Missense_Mutation_p.A309V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.A309V	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	309	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A309E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TATAGTAGGTGCACTGGGCCT	0.438																																																	1	Substitution - Missense(1)	NS(1)						G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	100.0	103.0	102.0		926,926,926	4.9	0.0	2		102	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	64,64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	309/1874,309/1818,309/1723	160741792	2,13004	2203	4300	6503	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.926C>T	2.37:g.160741792G>A	ENSP00000263636:p.Ala309Val		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.A309V	ENST00000263636.4	37	c.926	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045242	0.55110	0.0	2.33E-4	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.77	4.88	0.63580	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.252121	0.20877	N	0.084076	T	0.38799	0.1054	N	0.24115	0.695	0.09310	N	1	P;P;P	0.43662	0.666;0.555;0.814	B;B;B	0.42214	0.228;0.257;0.38	T	0.19353	-1.0308	10	0.38643	T	0.18	-0.8604	8.7891	0.34839	0.0768:0.0:0.7719:0.1513	.	309;309;309	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	V	309	ENSP00000451511:A309V;ENSP00000451446:A309V;ENSP00000263636:A309V;ENSP00000423463:A309V;ENSP00000421035:A309V	ENSP00000423463:A309V	A	-	2	0	LY75;LY75-CD302	160450038	0.452000	0.25713	0.006000	0.13384	0.395000	0.30598	2.235000	0.43044	1.416000	0.47057	0.650000	0.86243	GCA	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.438	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	G			160741792	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	missense	SNP	0.018	A
LYPD3	27076	genome.wustl.edu	37	19	43965504	43965504	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:43965504C>T	ENST00000244333.3	-	5	1128	c.1040G>A	c.(1039-1041)tGa>tAa	p.*347*		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	0					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TGGAGAAGCTCACAGTAGGAC	0.592																																																	0													28.0	28.0	28.0					19																	43965504		2203	4300	6503	SO:0001819	synonymous_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.1040G>A	19.37:g.43965504C>T			Q9UJ74	Silent	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.*347	ENST00000244333.3	37	c.1040	CCDS12620.1	19																																																																																			LYPD3	-	NULL		0.592	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	C	NM_014400		43965504	-1	no_errors	ENST00000244333	ensembl	human	known	70_37	silent	SNP	0.992	T
MAB21L1	4081	genome.wustl.edu	37	13	36049917	36049917	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:36049917G>C	ENST00000379919.4	-	1	915	c.359C>G	c.(358-360)tCc>tGc	p.S120C	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	120					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GAGGTAGCCGGAGGCGGTAAT	0.592																																																	0													45.0	46.0	46.0					13																	36049917		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.359C>G	13.37:g.36049917G>C	ENSP00000369251:p.Ser120Cys		Q6I9T5	Missense_Mutation	SNP	pfam_Mab-21_dom	p.S120C	ENST00000379919.4	37	c.359	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077203	0.76415	.	.	ENSG00000180660	ENST00000379919	T	0.09073	3.02	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.08046	-1.0741	10	0.66056	D	0.02	-15.5188	19.7375	0.96212	0.0:0.0:1.0:0.0	.	120	Q13394	MB211_HUMAN	C	120	ENSP00000369251:S120C	ENSP00000369251:S120C	S	-	2	0	MAB21L1	34947917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.680000	0.91292	0.655000	0.94253	TCC	MAB21L1	-	pfam_Mab-21_dom		0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	G	NM_005584		36049917	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	missense	SNP	1.000	C
MACF1	23499	genome.wustl.edu	37	1	39888163	39888163	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:39888163G>A	ENST00000372915.3	+	58	16036	c.15949G>A	c.(15949-15951)Gac>Aac	p.D5317N	MACF1_ENST00000567887.1_Missense_Mutation_p.D5349N|MACF1_ENST00000317713.7_Missense_Mutation_p.D3250N|MACF1_ENST00000564288.1_Missense_Mutation_p.D5312N|MACF1_ENST00000289893.4_Missense_Mutation_p.D3752N|MACF1_ENST00000545844.1_Missense_Mutation_p.D3250N|MACF1_ENST00000361689.2_Missense_Mutation_p.D3250N|MACF1_ENST00000539005.1_Missense_Mutation_p.D3229N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5317					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTAGAACATGACATGGAAGA	0.428																																																	0													116.0	109.0	112.0					1																	39888163		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15949G>A	1.37:g.39888163G>A	ENSP00000362006:p.Asp5317Asn		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D3250N	ENST00000372915.3	37	c.9748		1	.	.	.	.	.	.	.	.	.	.	G	36	5.656264	0.96724	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000004	T	0.74291	0.3697	M	0.85542	2.76	0.80722	D	1	D;D;P	0.76494	0.999;0.984;0.956	D;P;P	0.77004	0.989;0.828;0.868	T	0.76313	-0.3005	10	0.66056	D	0.02	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	5317;3250;3194	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	N	3250;5317;3250;3250;3229;3752;66	ENSP00000439537:D3250N;ENSP00000362006:D5317N;ENSP00000354573:D3250N;ENSP00000313438:D3250N;ENSP00000444364:D3229N;ENSP00000289893:D3752N;ENSP00000433104:D66N	ENSP00000289893:D3752N	D	+	1	0	MACF1	39660750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.821000	0.97095	0.650000	0.86243	GAC	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39888163	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39888169	39888169	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:39888169G>A	ENST00000372915.3	+	58	16042	c.15955G>A	c.(15955-15957)Gaa>Aaa	p.E5319K	MACF1_ENST00000567887.1_Missense_Mutation_p.E5351K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3252K|MACF1_ENST00000564288.1_Missense_Mutation_p.E5314K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3754K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3252K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3252K|MACF1_ENST00000539005.1_Missense_Mutation_p.E3231K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5319					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATGACATGGAAGAGATCAA	0.423																																																	0													113.0	106.0	109.0					1																	39888169		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15955G>A	1.37:g.39888169G>A	ENSP00000362006:p.Glu5319Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3252K	ENST00000372915.3	37	c.9754		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827169|4.827169	0.90955|0.90955	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	T;T;T;T;T;T;T|.	0.36340|.	1.26;1.26;1.26;1.26;1.26;1.26;1.26|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.092159|.	0.47093|.	D|.	0.000260|.	T|T	0.73916|0.73916	0.3648|0.3648	L|L	0.59912|0.59912	1.85|1.85	0.80722|0.80722	D|D	1|1	B;B;P|.	0.42010|.	0.322;0.32;0.768|.	B;B;P|.	0.49999|.	0.158;0.389;0.628|.	T|T	0.69098|0.69098	-0.5235|-0.5235	10|5	0.87932|.	D|.	0|.	.|.	20.3812|20.3812	0.98933|0.98933	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5319;3252;3196|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	K|E	3252;5319;3252;3252;3231;3754;68|2364	ENSP00000439537:E3252K;ENSP00000362006:E5319K;ENSP00000354573:E3252K;ENSP00000313438:E3252K;ENSP00000444364:E3231K;ENSP00000289893:E3754K;ENSP00000433104:E68K|.	ENSP00000289893:E3754K|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39660756|39660756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.864000|9.864000	0.99589|0.99589	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	GAA|GGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39888169	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A
MAFB	9935	genome.wustl.edu	37	20	39316690	39316690	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:39316690C>G	ENST00000373313.2	-	1	1190	c.801G>C	c.(799-801)gaG>gaC	p.E267D	MAFB_ENST00000396967.1_Missense_Mutation_p.E267D	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	267	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				TCTTCTCATTCTCCAGGTGGT	0.597			T	IGH@	MM																																			Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	0													62.0	63.0	63.0					20																	39316690		2203	4300	6503	SO:0001583	missense	9935			AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.801G>C	20.37:g.39316690C>G	ENSP00000362410:p.Glu267Asp		B3KNE1|Q9H1F1	Missense_Mutation	SNP	pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E267D	ENST00000373313.2	37	c.801	CCDS13311.1	20	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478254	0.63849	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.92149	-2.98;-2.98	3.91	2.87	0.33458	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.95974	0.8689	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95944	0.8949	10	0.66056	D	0.02	-7.9356	12.0259	0.53371	0.0:0.8986:0.0:0.1014	.	267	Q9Y5Q3	MAFB_HUMAN	D	267	ENSP00000362410:E267D;ENSP00000380167:E267D	ENSP00000362410:E267D	E	-	3	2	MAFB	38750104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.888000	0.69758	2.050000	0.60909	0.456000	0.33151	GAG	MAFB	-	pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP		0.597	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFB	HGNC	protein_coding	OTTHUMT00000080375.2	C			39316690	-1	no_errors	ENST00000373313	ensembl	human	known	70_37	missense	SNP	1.000	G
MAGED1	9500	genome.wustl.edu	37	X	51640555	51640555	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:51640555G>A	ENST00000375722.1	+	6	1738				MAGED1_ENST00000375695.2_Intron|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGAGGACCTTGACTGTGCTAC	0.577										Multiple Myeloma(10;0.10)																																							0																																										SO:0001627	intron_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1487-88G>A	X.37:g.51640555G>A			Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	RNA	SNP	-	NULL	ENST00000375722.1	37	NULL	CCDS14337.1	X																																																																																			MAGED1	-	-		0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	G	NM_001005332		51640555	+1	no_errors	ENST00000494718	ensembl	human	known	70_37	rna	SNP	0.000	A
MAL	4118	genome.wustl.edu	37	2	95713817	95713817	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:95713817G>A	ENST00000309988.4	+	2	316	c.207G>A	c.(205-207)ttG>ttA	p.L69L	MAL_ENST00000353004.3_Silent_p.L69L|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	69	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCACCACCTTGATCATCCTGT	0.617																																																	0													110.0	97.0	101.0					2																	95713817		2203	4300	6503	SO:0001819	synonymous_variant	4118				CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.207G>A	2.37:g.95713817G>A			Q6FH77	Silent	SNP	pfam_MARVEL-like_dom,prints_MAL	p.L69	ENST00000309988.4	37	c.207	CCDS2006.1	2																																																																																			MAL	-	pfam_MARVEL-like_dom		0.617	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAL	HGNC	protein_coding	OTTHUMT00000254982.3	G	NM_002371		95713817	+1	no_errors	ENST00000309988	ensembl	human	known	70_37	silent	SNP	0.345	A
MAMDC2	256691	genome.wustl.edu	37	9	72840732	72840732	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:72840732C>G	ENST00000377182.4	+	13	2595	c.1978C>G	c.(1978-1980)Cag>Gag	p.Q660E	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	660	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGTTAAATTTCAGGCAGGACC	0.313																																																	0													71.0	73.0	72.0					9																	72840732		2203	4297	6500	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1978C>G	9.37:g.72840732C>G	ENSP00000366387:p.Gln660Glu		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.Q660E	ENST00000377182.4	37	c.1978	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434805	0.12045	.	.	ENSG00000165072	ENST00000377182	T	0.02085	4.46	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.201590	0.52532	D	0.000068	T	0.02418	0.0074	N	0.16602	0.42	0.42650	D	0.993441	B	0.23854	0.092	B	0.30316	0.114	T	0.53662	-0.8407	10	0.07030	T	0.85	-17.1329	20.6634	0.99662	0.0:1.0:0.0:0.0	.	660	Q7Z304	MAMC2_HUMAN	E	660	ENSP00000366387:Q660E	ENSP00000366387:Q660E	Q	+	1	0	MAMDC2	72030552	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	3.608000	0.54109	2.894000	0.99253	0.655000	0.94253	CAG	MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.313	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72840732	+1	no_errors	ENST00000377182	ensembl	human	known	70_37	missense	SNP	0.998	G
MAN1C1	57134	genome.wustl.edu	37	1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGATGAGAGTCAGGAGCCCCA	0.637																																																	0													16.0	12.0	14.0					1																	25944781		1843	3823	5666	SO:0001587	stop_gained	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.493C>T	1.37:g.25944781C>T	ENSP00000363452:p.Gln165*		A6NNE2|B2RNP2|Q9Y545	Nonsense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q165*	ENST00000374332.4	37	c.493	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	c	35	5.537383	0.96460	.	.	ENSG00000117643	ENST00000374332	.	.	.	4.67	-9.33	0.00639	.	2.652800	0.01007	N	0.003765	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	3.4789	0.07595	0.1568:0.412:0.3136:0.1176	.	.	.	.	X	165	.	ENSP00000363452:Q165X	Q	+	1	0	MAN1C1	25817368	0.011000	0.17503	0.002000	0.10522	0.429000	0.31625	-0.297000	0.08276	-1.376000	0.02126	-0.867000	0.03001	CAG	MAN1C1	-	superfamily_Glyco_hydro_47		0.637	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	C	NM_020379		25944781	+1	no_errors	ENST00000374332	ensembl	human	known	70_37	nonsense	SNP	0.000	T
MAP3K3	4215	genome.wustl.edu	37	17	61771015	61771015	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:61771015C>A	ENST00000361733.3	+	16	2079	c.1759C>A	c.(1759-1761)Cag>Aag	p.Q587K	MAP3K3_ENST00000579585.1_Missense_Mutation_p.Q618K|MAP3K3_ENST00000361357.3_Missense_Mutation_p.Q618K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.Q614K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.Q583K	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	587	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACCAATCCTCAGCTGCCCTC	0.582																																																	0													127.0	107.0	114.0					17																	61771015		2203	4300	6503	SO:0001583	missense	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1759C>A	17.37:g.61771015C>A	ENSP00000354485:p.Gln587Lys		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q618K	ENST00000361733.3	37	c.1852	CCDS32702.1	17	.	.	.	.	.	.	.	.	.	.	C	9.412	1.080830	0.20309	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.64438	-0.1;-0.1	5.15	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.248799	0.41500	D	0.000880	T	0.42854	0.1221	N	0.11131	0.1	0.54753	D	0.999982	B;B;B;B	0.14012	0.009;0.009;0.009;0.004	B;B;B;B	0.18263	0.021;0.014;0.021;0.012	T	0.39941	-0.9589	10	0.07030	T	0.85	.	18.6362	0.91379	0.0:1.0:0.0:0.0	.	583;555;587;618	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	K	618;587	ENSP00000354927:Q618K;ENSP00000354485:Q587K	ENSP00000354927:Q618K	Q	+	1	0	MAP3K3	59124747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.859000	0.55987	2.407000	0.81776	0.561000	0.74099	CAG	MAP3K3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.582	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	MAP3K3	HGNC	protein_coding	OTTHUMT00000443867.1	C	NM_002401		61771015	+1	no_errors	ENST00000361357	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPK14	1432	genome.wustl.edu	37	6	36041852	36041852	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:36041852G>A	ENST00000229794.4	+	6	862	c.474G>A	c.(472-474)gtG>gtA	p.V158V	MAPK14_ENST00000468133.1_Silent_p.V81V|MAPK14_ENST00000229795.3_Silent_p.V158V|MAPK14_ENST00000310795.4_Silent_p.V158V	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ATCTAGCTGTGAATGAAGACT	0.383																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)												0													138.0	125.0	130.0					6																	36041852		2203	4300	6503	SO:0001819	synonymous_variant	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.474G>A	6.37:g.36041852G>A			A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38	p.V158	ENST00000229794.4	37	c.474	CCDS4816.1	6																																																																																			MAPK14	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.383	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK14	HGNC	protein_coding	OTTHUMT00000357450.1	G	NM_001315		36041852	+1	no_errors	ENST00000229794	ensembl	human	known	70_37	silent	SNP	1.000	A
MAPKAPK2	9261	genome.wustl.edu	37	1	206905167	206905167	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:206905167C>G	ENST00000367103.3	+	9	1171				MAPKAPK2_ENST00000479009.1_3'UTR|MAPKAPK2_ENST00000294981.4_Intron	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ACTCGGACCCCTTTTCTCTCT	0.582																																																	0													43.0	49.0	47.0					1																	206905167		2203	4300	6503	SO:0001627	intron_variant	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.979-17C>G	1.37:g.206905167C>G			Q5SY30|Q5SY41|Q8IYD6	RNA	SNP	-	NULL	ENST00000367103.3	37	NULL	CCDS31001.1	1																																																																																			MAPKAPK2	-	-		0.582	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	C	NM_004759		206905167	+1	no_errors	ENST00000479009	ensembl	human	putative	70_37	rna	SNP	0.072	G
MARCH10	162333	genome.wustl.edu	37	17	60814461	60814461	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:60814461G>C	ENST00000311269.5	-	6	1042	c.768C>G	c.(766-768)ctC>ctG	p.L256L	RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Silent_p.L255L|MARCH10_ENST00000456609.2_Silent_p.L256L|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.L294L	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	256					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGGTGGGTGTGAGTGGTGGCC	0.498																																																	0													115.0	117.0	116.0					17																	60814461		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.768C>G	17.37:g.60814461G>C			D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.L256	ENST00000311269.5	37	c.768	CCDS11635.1	17																																																																																			MARCH10	-	NULL		0.498	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	G	NM_152598		60814461	-1	no_errors	ENST00000311269	ensembl	human	known	70_37	silent	SNP	0.000	C
MARK3	4140	genome.wustl.edu	37	14	103852004	103852004	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:103852004C>T	ENST00000429436.2	+	0	148				MARK3_ENST00000440884.3_5'UTR|MARK3_ENST00000416682.2_5'UTR|MARK3_ENST00000553942.1_5'Flank|MARK3_ENST00000303622.9_5'UTR|MARK3_ENST00000335102.5_5'Flank|MARK3_ENST00000216288.7_5'Flank	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3							plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGCTGAAATTCGCGGTGCGAC	0.726																																																	0																																										SO:0001623	5_prime_UTR_variant	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.-363C>T	14.37:g.103852004C>T			O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	RNA	SNP	-	NULL	ENST00000429436.2	37	NULL	CCDS45165.1	14																																																																																			MARK3	-	-		0.726	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	C	NM_001128918		103852004	+1	no_errors	ENST00000560603	ensembl	human	known	70_37	rna	SNP	0.000	T
MARS	4141	genome.wustl.edu	37	12	57906126	57906126	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:57906126C>T	ENST00000262027.5	+	14	1877	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Silent_p.L347L|RNU6-594P_ENST00000517056.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	581					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCAGCCACCTCATTGCTACAG	0.463																																																	0													130.0	123.0	125.0					12																	57906126		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1743C>T	12.37:g.57906126C>T			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.L581	ENST00000262027.5	37	c.1743	CCDS8942.1	12																																																																																			MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth		0.463	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57906126	+1	no_errors	ENST00000262027	ensembl	human	known	70_37	silent	SNP	1.000	T
MASP2	10747	genome.wustl.edu	37	1	11103437	11103437	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:11103437C>G	ENST00000400897.3	-	5	715	c.700G>C	c.(700-702)Gag>Cag	p.E234Q		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	234	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-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)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGGTGTGTCTCCACATCGAAG	0.572																																					GBM(35;611 746 20780 22741 36496)												0													73.0	56.0	62.0					1																	11103437		2200	4297	6497	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.700G>C	1.37:g.11103437C>G	ENSP00000383690:p.Glu234Gln		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E234Q	ENST00000400897.3	37	c.700	CCDS123.1	1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.249035	0.59103	.	.	ENSG00000009724	ENST00000400897	T	0.27104	1.69	4.39	4.39	0.52855	CUB (5);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69529	-0.5121	10	0.66056	D	0.02	.	16.1639	0.81739	0.0:1.0:0.0:0.0	.	234	O00187	MASP2_HUMAN	Q	234	ENSP00000383690:E234Q	ENSP00000383690:E234Q	E	-	1	0	MASP2	11026024	1.000000	0.71417	0.984000	0.44739	0.127000	0.20565	7.640000	0.83355	2.166000	0.68216	0.299000	0.19835	GAG	MASP2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.572	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	HGNC	protein_coding	OTTHUMT00000006072.1	C	NM_006610		11103437	-1	no_errors	ENST00000400897	ensembl	human	known	70_37	missense	SNP	1.000	G
MAX	4149	genome.wustl.edu	37	14	65544131	65544131	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:65544131C>G	ENST00000358664.4	-	4	426				MAX_ENST00000557746.1_Nonstop_Mutation_p.*122S|MAX_ENST00000284165.6_3'UTR|MAX_ENST00000555419.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Intron|MAX_ENST00000556979.1_Nonstop_Mutation_p.*104S|MAX_ENST00000557277.1_Missense_Mutation_p.D13H|MAX_ENST00000555667.1_Nonstop_Mutation_p.*95S|MAX_ENST00000555932.1_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		AGAACTTGATCAGCTCTCGCT	0.488																																																	0													84.0	84.0	84.0					14																	65544131		1902	4129	6031	SO:0001627	intron_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.295+499G>C	14.37:g.65544131C>G			A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	NULL	p.D13H	ENST00000358664.4	37	c.37	CCDS9771.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.344119|2.344119	0.41498|0.41498	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000557277|ENST00000556979;ENST00000555667;ENST00000557746	D|.	0.85339|.	-1.97|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|.	0.69441|.	0.3111|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67146|.	-0.5744|.	5|.	.|.	.|.	.|.	.|.	14.0921|14.0921	0.64998|0.64998	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	H|S	13|104;95;122	ENSP00000450955:D13H|.	.|.	D|X	-|-	1|2	0|2	MAX|MAX	64613884|64613884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.347000|3.347000	0.52200|0.52200	2.705000|2.705000	0.92388|0.92388	0.585000|0.585000	0.79938|0.79938	GAT|TGA	MAX	-	NULL		0.488	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	C	NM_197957		65544131	-1	no_errors	ENST00000557277	ensembl	human	putative	70_37	missense	SNP	1.000	G
MBTPS1	8720	genome.wustl.edu	37	16	84099344	84099344	+	Silent	SNP	C	C	T	rs149572196		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:84099344C>T	ENST00000343411.3	-	18	2877	c.2382G>A	c.(2380-2382)gcG>gcA	p.A794A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	794					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGGAAACTTCGCGATGCTGC	0.448																																																	0								C		0,4400		0,0,2200	135.0	114.0	121.0		2382	-11.3	0.0	16	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MBTPS1	NM_003791.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		794/1053	84099344	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2382G>A	16.37:g.84099344C>T			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.A794	ENST00000343411.3	37	c.2382	CCDS10941.1	16																																																																																			MBTPS1	-	NULL		0.448	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84099344	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	silent	SNP	0.054	T
MCM8	84515	genome.wustl.edu	37	20	5974260	5974260	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:5974260C>T	ENST00000378896.3	+	18	2726	c.2349C>T	c.(2347-2349)ctC>ctT	p.L783L	MCM8_ENST00000378886.2_Silent_p.L823L|MCM8_ENST00000265187.4_Silent_p.L767L|MCM8_ENST00000378883.1_Silent_p.L736L	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	783					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTCTGCTCTCAACAACGTTG	0.358																																																	0													58.0	63.0	62.0					20																	5974260		2203	4300	6503	SO:0001819	synonymous_variant	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2349C>T	20.37:g.5974260C>T			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.L823	ENST00000378896.3	37	c.2469	CCDS13094.1	20																																																																																			MCM8	-	NULL		0.358	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	C	NM_032485		5974260	+1	no_errors	ENST00000378886	ensembl	human	known	70_37	silent	SNP	1.000	T
MCM9	254394	genome.wustl.edu	37	6	119147332	119147332	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:119147332C>T	ENST00000316316.6	-	12	2225	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	MCM9_ENST00000505485.1_5'Flank	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	647					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CTAAGCTCTTCACTCAAGAGG	0.438																																																	0																																										SO:0001583	missense	254394			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1939G>A	6.37:g.119147332C>T	ENSP00000314505:p.Glu647Lys		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.E647K	ENST00000316316.6	37	c.1939	CCDS56447.1	6	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368075	0.61513	.	.	ENSG00000111877	ENST00000316316;ENST00000243218	T	0.04119	3.7	5.42	5.42	0.78866	.	0.646420	0.14574	N	0.311268	T	0.01661	0.0053	L	0.38175	1.15	0.80722	D	1	P	0.42409	0.779	B	0.33121	0.158	T	0.58885	-0.7557	10	0.30078	T	0.28	.	9.5352	0.39218	0.0:0.8387:0.0:0.1613	.	647	Q9NXL9	MCM9_HUMAN	K	647;266	ENSP00000314505:E647K	ENSP00000243218:E266K	E	-	1	0	MCM9	119254024	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	2.966000	0.49208	2.525000	0.85131	0.655000	0.94253	GAA	MCM9	-	NULL		0.438	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4	C	NM_153255		119147332	-1	no_errors	ENST00000316316	ensembl	human	known	70_37	missense	SNP	0.990	T
MCPH1	79648	genome.wustl.edu	37	8	6266851	6266851	+	Nonsense_Mutation	SNP	C	C	G	rs121434305		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:6266851C>G	ENST00000344683.5	+	2	150	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*|RP11-115C21.2_ENST00000606853.1_RNA|RP11-115C21.2_ENST00000500118.2_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	25	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAATTATTCAAAGACATTT	0.358																																					Colon(95;1448 1467 8277 34473 35819)												0			GRCh37	CM021634	MCPH1	M	rs121434305	C	stop/SER,stop/SER,stop/SER	0,3754		0,0,1877	157.0	147.0	150.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	74,74,74	5.1	1.0	8	dbSNP_132	150	1,8221		0,1,4110	no	stop-gained,stop-gained,stop-gained	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,1,5987	GG,GC,CC		0.0122,0.0,0.0084	,,	25/611,25/563,25/836	6266851	1,11975	1877	4111	5988	SO:0001587	stop_gained	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.74C>G	8.37:g.6266851C>G	ENSP00000342924:p.Ser25*		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.S25*	ENST00000344683.5	37	c.74	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.350629	0.97498	0.0	1.22E-4	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5541	16.0918	0.81094	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000342924:S25X	S	+	2	0	MCPH1	6254259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.496000	0.73670	2.381000	0.81170	0.591000	0.81541	TCA	MCPH1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.358	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	C	NM_024596		6266851	+1	no_errors	ENST00000344683	ensembl	human	known	70_37	nonsense	SNP	1.000	G
MDGA2	161357	genome.wustl.edu	37	14	47530502	47530502	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:47530502C>T	ENST00000399232.2	-	7	1632	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	MDGA2_ENST00000439988.3_Missense_Mutation_p.G492E|MDGA2_ENST00000357362.3_Missense_Mutation_p.G194E|MDGA2_ENST00000426342.1_Missense_Mutation_p.G194E	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	423	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATTCCTCCTCCCTTCAGAGA	0.378																																																	0													150.0	138.0	142.0					14																	47530502		1908	4119	6027	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1268G>A	14.37:g.47530502C>T	ENSP00000382178:p.Gly423Glu		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.G492E	ENST00000399232.2	37	c.1475		14	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627537	0.66901	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000120	T	0.77130	0.4085	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.73011	-0.4117	10	0.30854	T	0.27	.	18.2795	0.90094	0.0:1.0:0.0:0.0	.	423	Q7Z553	MDGA2_HUMAN	E	423;194;492;194	ENSP00000400011:G423E;ENSP00000405456:G194E;ENSP00000382178:G492E;ENSP00000349925:G194E	ENSP00000349925:G194E	G	-	2	0	MDGA2	46600252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.806000	0.69150	2.658000	0.90341	0.655000	0.94253	GGA	MDGA2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	C	NM_182830		47530502	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90422942	90422942	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:90422942C>T	ENST00000369393.3	-	47	7258	c.7143G>A	c.(7141-7143)ctG>ctA	p.L2381L	MDN1_ENST00000428876.1_Silent_p.L2381L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2381					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCTAAACTCAGCCCTCGCT	0.413																																																	0													132.0	139.0	136.0					6																	90422942		2203	4300	6503	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7143G>A	6.37:g.90422942C>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L2381	ENST00000369393.3	37	c.7143	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90422942	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	silent	SNP	0.990	T
MED12L	116931	genome.wustl.edu	37	3	151131027	151131027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:151131027C>T	ENST00000474524.1	+	40	6174	c.6136C>T	c.(6136-6138)Cag>Tag	p.Q2046*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2046	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCCCTGCCTCAGGATCCCAT	0.592																																																	0													73.0	68.0	69.0					3																	151131027		2203	4300	6503	SO:0001587	stop_gained	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6136C>T	3.37:g.151131027C>T	ENSP00000417235:p.Gln2046*		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.Q2046*	ENST00000474524.1	37	c.6136	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	47	13.326269	0.99735	.	.	ENSG00000144893	ENST00000474524	.	.	.	5.33	5.33	0.75918	.	0.202601	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-15.0679	16.8214	0.85747	0.0:1.0:0.0:0.0	.	.	.	.	X	2046	.	ENSP00000417235:Q2046X	Q	+	1	0	MED12L	152613717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.219000	0.65262	2.495000	0.84180	0.655000	0.94253	CAG	MED12L	-	NULL		0.592	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		151131027	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60038353	60038353	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:60038353C>G	ENST00000397786.2	-	23	5431	c.5355G>C	c.(5353-5355)caG>caC	p.Q1785H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1785					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATTATATTTCTGTCCAGCTT	0.388																																																	0													134.0	121.0	125.0					17																	60038353		1839	4094	5933	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5355G>C	17.37:g.60038353C>G	ENSP00000380888:p.Gln1785His		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Q1785H	ENST00000397786.2	37	c.5355	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187139	0.57909	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83419	-1.72	5.31	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.81914	0.995	D	0.87715	0.2569	10	0.54805	T	0.06	-2.5042	10.1554	0.42820	0.0:0.8477:0.0:0.1523	.	1785	Q9UHV7	MED13_HUMAN	H	1785;1784	ENSP00000380888:Q1785H	ENSP00000262436:Q1784H	Q	-	3	2	MED13	57393135	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.847000	0.48270	1.245000	0.43885	-0.154000	0.13518	CAG	MED13	-	pfam_Mediator_Med13		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60038353	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	G
MEF2B	100271849	genome.wustl.edu	37	19	19257570	19257570	+	Missense_Mutation	SNP	C	C	A	rs368120349		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:19257570C>A	ENST00000602424.2	-	8	1382	c.656G>T	c.(655-657)cGa>cTa	p.R219L	MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000162023.5_Missense_Mutation_p.R219L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R236L|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R219L|MEF2B_ENST00000410050.1_Missense_Mutation_p.R219L|MEF2B_ENST00000409224.1_Missense_Mutation_p.R222L|MEF2B_ENST00000424583.2_Missense_Mutation_p.R219L	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	219					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TAGTCCCCCTCGGGGCCCAGC	0.662																																																	0								C	LEU/ARG,LEU/ARG	0,4406		0,0,2203	51.0	51.0	51.0		656,656	4.6	1.0	19		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MEF2BNB-MEF2B,MEF2B	NM_001145785.1,NM_005919.3	102,102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	219/369,219/366	19257570	1,13005	2203	4300	6503	SO:0001583	missense	100271849			X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.656G>T	19.37:g.19257570C>A	ENSP00000473308:p.Arg219Leu		A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.R219L	ENST00000602424.2	37	c.656	CCDS12394.1	19	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733378	0.30684	0.0	1.16E-4	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000162023	D;D;D;D;D	0.88046	-2.33;-2.31;-2.31;-2.24;-2.31	4.58	4.58	0.56647	.	0.397256	0.22917	N	0.054072	D	0.83339	0.5233	L	0.32530	0.975	0.26846	N	0.968276	P;P;P;B	0.48998	0.918;0.515;0.859;0.049	B;B;P;B	0.46275	0.376;0.17;0.51;0.049	T	0.78183	-0.2303	10	0.52906	T	0.07	-1.7888	12.8877	0.58053	0.0:1.0:0.0:0.0	.	219;219;219;222	Q02080;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.	L	222;219;219;219;219	ENSP00000386480:R222L;ENSP00000402154:R219L;ENSP00000386374:R219L;ENSP00000390762:R219L;ENSP00000162023:R219L	ENSP00000162023:R219L	R	-	2	0	MEF2B	19118570	0.064000	0.20934	0.968000	0.41197	0.260000	0.26232	1.133000	0.31430	2.123000	0.65237	0.561000	0.74099	CGA	MEF2B	-	NULL		0.662	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2B	HGNC	protein_coding		C	NM_005919		19257570	-1	no_errors	ENST00000162023	ensembl	human	known	70_37	missense	SNP	0.631	A
MEI1	150365	genome.wustl.edu	37	22	42099426	42099426	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:42099426G>C	ENST00000401548.3	+	2	306	c.266G>C	c.(265-267)aGa>aCa	p.R89T	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGATCAGAGAGTCTGCATC	0.443																																																	0													77.0	72.0	73.0					22																	42099426		1942	4135	6077	SO:0001583	missense	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.266G>C	22.37:g.42099426G>C	ENSP00000384115:p.Arg89Thr			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R89T	ENST00000401548.3	37	c.266	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054167	0.55218	.	.	ENSG00000167077	ENST00000401548	T	0.18657	2.2	5.22	0.477	0.16784	Armadillo-type fold (1);	0.128078	0.48767	D	0.000164	T	0.31482	0.0798	L	0.59436	1.845	0.80722	D	1	D;B	0.71674	0.998;0.017	D;B	0.66351	0.943;0.013	T	0.08868	-1.0701	10	0.72032	D	0.01	-4.3527	4.0247	0.09682	0.154:0.1257:0.5915:0.1288	.	89;89	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	T	89	ENSP00000384115:R89T	ENSP00000384115:R89T	R	+	2	0	MEI1	40429372	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	0.555000	0.23422	0.601000	0.29879	0.485000	0.47835	AGA	MEI1	-	superfamily_ARM-type_fold		0.443	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	G	NM_152513		42099426	+1	no_errors	ENST00000401548	ensembl	human	known	70_37	missense	SNP	0.999	C
MEPE	56955	genome.wustl.edu	37	4	88759818	88759818	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:88759818G>C	ENST00000424957.3	+	3	162	c.89G>C	c.(88-90)aGc>aCc	p.S30T	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S30T|MEPE_ENST00000511670.1_Missense_Mutation_p.S30T|MEPE_ENST00000361056.3_Missense_Mutation_p.S30T|MEPE_ENST00000560249.1_5'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	30					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACTAAGCAAAGCTGTGTGGAA	0.338																																																	0													132.0	134.0	133.0					4																	88759818		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.89G>C	4.37:g.88759818G>C	ENSP00000416984:p.Ser30Thr		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.S30T	ENST00000424957.3	37	c.89	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406283	0.25378	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000511670;ENST00000361056	T;T;T	0.21361	4.33;2.01;4.33	4.79	1.81	0.25067	.	0.701948	0.11823	N	0.525976	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	B	0.28233	0.204	B	0.23419	0.046	T	0.13388	-1.0511	10	0.62326	D	0.03	-5.6712	5.2195	0.15362	0.4729:0.0:0.5271:0.0	.	30	Q9NQ76	MEPE_HUMAN	T	30	ENSP00000416984:S30T;ENSP00000378534:S30T;ENSP00000354341:S30T	ENSP00000354341:S30T	S	+	2	0	MEPE	88978842	0.953000	0.32496	0.953000	0.39169	0.706000	0.40770	0.879000	0.28146	0.363000	0.24346	0.655000	0.94253	AGC	MEPE	-	NULL		0.338	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	G			88759818	+1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.968	C
MERTK	10461	genome.wustl.edu	37	2	112785945	112785945	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:112785945C>G	ENST00000295408.4	+	19	2761	c.2504C>G	c.(2503-2505)tCt>tGt	p.S835C	MERTK_ENST00000421804.2_Missense_Mutation_p.S835C|MERTK_ENST00000409780.1_Missense_Mutation_p.S659C			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATAATGTACTCTTGCTGGAGA	0.438																																																	0													48.0	53.0	51.0					2																	112785945		2203	4300	6503	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2504C>G	2.37:g.112785945C>G	ENSP00000295408:p.Ser835Cys		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S835C	ENST00000295408.4	37	c.2504	CCDS2094.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908446|2.908446	0.52333|0.52333	.|.	.|.	ENSG00000153208|ENSG00000153208	ENST00000393237|ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	.|D;D;D;D	.|0.83591	.|-1.74;-1.74;-1.74;-1.74	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.33075	.|U	.|0.005309	D|D	0.87928|0.87928	0.6301|0.6301	L|L	0.45470|0.45470	1.425|1.425	0.09310|0.09310	N|N	0.999993|0.999993	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.81385|0.81385	-0.0957|-0.0957	6|10	0.29301|0.66056	T|D	0.29|0.02	-17.4451|-17.4451	13.955|13.955	0.64142|0.64142	0.2672:0.7328:0.0:0.0|0.2672:0.7328:0.0:0.0	.|.	.|835	.|Q12866	.|MERTK_HUMAN	V|C	495|835;835;659;159	.|ENSP00000295408:S835C;ENSP00000389152:S835C;ENSP00000387277:S659C;ENSP00000412660:S159C	ENSP00000376929:L495V|ENSP00000295408:S835C	L|S	+|+	1|2	0|0	MERTK|MERTK	112502416|112502416	0.060000|0.060000	0.20803|0.20803	0.963000|0.963000	0.40424|0.40424	0.925000|0.925000	0.55904|0.55904	2.826000|2.826000	0.48104|0.48104	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	CTT|TCT	MERTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.438	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	C			112785945	+1	no_errors	ENST00000295408	ensembl	human	known	70_37	missense	SNP	0.013	G
MET	4233	genome.wustl.edu	37	7	116371803	116371803	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:116371803G>C	ENST00000318493.6	+	3	1469	c.1282G>C	c.(1282-1284)Gac>Cac	p.D428H	MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Missense_Mutation_p.D428H|MET_ENST00000436117.2_Missense_Mutation_p.D428H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCAGCGCGTTGACTTATTCAT	0.443			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													124.0	115.0	118.0					7																	116371803		1927	4114	6041	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1282G>C	7.37:g.116371803G>C	ENSP00000317272:p.Asp428His		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D428H	ENST00000318493.6	37	c.1282	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047243	0.55110	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.12465	2.68;2.68;2.68	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.090250	0.85682	D	0.000000	T	0.42449	0.1203	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;0.997;0.997;0.997;0.997;0.995;0.991;0.995;1.0	T	0.32640	-0.9899	10	0.87932	D	0	.	19.5825	0.95473	0.0:0.0:1.0:0.0	.	428;428;428;428;428;428;428;428;428;428;428	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	H	428	ENSP00000380860:D428H;ENSP00000317272:D428H;ENSP00000410980:D428H	ENSP00000317272:D428H	D	+	1	0	MET	116159039	1.000000	0.71417	0.971000	0.41717	0.238000	0.25445	7.539000	0.82063	2.624000	0.88883	0.655000	0.94253	GAC	MET	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag		0.443	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	G			116371803	+1	no_errors	ENST00000318493	ensembl	human	known	70_37	missense	SNP	0.997	C
MFSD2A	84879	genome.wustl.edu	37	1	40422823	40422823	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:40422823G>C	ENST00000372809.5	+	2	301	c.158G>C	c.(157-159)gGa>gCa	p.G53A	MFSD2A_ENST00000372811.5_Missense_Mutation_p.G53A|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	53					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCACTTGGGGGAGCCCCCTAC	0.507																																																	0													191.0	203.0	199.0					1																	40422823		2203	4300	6503	SO:0001583	missense	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.158G>C	1.37:g.40422823G>C	ENSP00000361895:p.Gly53Ala		A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G53A	ENST00000372809.5	37	c.158	CCDS44118.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538101	0.85917	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	D;D;D	0.87029	-2.2;-2.2;-2.2	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	L	0.56396	1.775	0.80722	D	1	D;D	0.56746	0.977;0.972	P;P	0.61722	0.893;0.828	D	0.91825	0.5470	10	0.56958	D	0.05	-13.988	16.9853	0.86338	0.0:0.0:1.0:0.0	.	53;53	Q8NA29;Q8NA29-2	MFS2A_HUMAN;.	A	53;51;53	ENSP00000361898:G53A;ENSP00000407606:G51A;ENSP00000361895:G53A	ENSP00000361895:G53A	G	+	2	0	MFSD2A	40195410	1.000000	0.71417	0.995000	0.50966	0.894000	0.52154	9.174000	0.94824	2.250000	0.74265	0.462000	0.41574	GGA	MFSD2A	-	superfamily_MFS_dom_general_subst_transpt		0.507	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	MFSD2A	HGNC	protein_coding	OTTHUMT00000025756.1	G	NM_032793		40422823	+1	no_errors	ENST00000372809	ensembl	human	known	70_37	missense	SNP	0.998	C
MGA	23269	genome.wustl.edu	37	15	41961629	41961629	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:41961629C>G	ENST00000570161.1	+	1	537	c.537C>G	c.(535-537)ctC>ctG	p.L179L	MGA_ENST00000545763.1_Silent_p.L179L|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Silent_p.L179L|MGA_ENST00000389936.4_Silent_p.L179L|MGA_ENST00000566586.1_Silent_p.L179L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTATAAACTCAAACTTACCA	0.448																																																	0													230.0	228.0	229.0					15																	41961629		1940	4139	6079	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.537C>G	15.37:g.41961629C>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L179	ENST00000570161.1	37	c.537	CCDS55959.1	15																																																																																			MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41961629	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	silent	SNP	0.990	G
MT-ND2	4536	genome.wustl.edu	37	M	1719	1719	+	5'Flank	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrM:1719G>A	ENST00000361453.3	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TF_ENST00000387314.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CAGACAACCTTAGCCAAACCA	0.418																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1719G>A	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.418	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024027		1719	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	A
MKI67	4288	genome.wustl.edu	37	10	129903272	129903272	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:129903272C>G	ENST00000368654.3	-	13	7207	c.6832G>C	c.(6832-6834)Gac>Cac	p.D2278H	MKI67_ENST00000368653.3_Missense_Mutation_p.D1918H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2278	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTTTCATGTCTTTCTCATCA	0.473																																																	0													266.0	243.0	251.0					10																	129903272		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6832G>C	10.37:g.129903272C>G	ENSP00000357643:p.Asp2278His		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D2278H	ENST00000368654.3	37	c.6832	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	8.276	0.814434	0.16607	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02446	4.29;4.29	3.21	-2.68	0.06041	.	2.836530	0.01441	N	0.015088	T	0.06690	0.0171	L	0.52573	1.65	0.09310	N	1	B;B;P	0.42735	0.06;0.123;0.788	B;B;P	0.51777	0.093;0.426;0.679	T	0.29822	-0.9999	10	0.48119	T	0.1	.	4.2338	0.10616	0.1553:0.4239:0.0:0.4207	.	2277;1918;2278	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	H	2278;1918;2277	ENSP00000357643:D2278H;ENSP00000357642:D1918H	ENSP00000357642:D1918H	D	-	1	0	MKI67	129793262	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.272000	0.01165	-0.360000	0.08138	-0.751000	0.03497	GAC	MKI67	-	pfam_K167R		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129903272	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	G
KMT2D	8085	genome.wustl.edu	37	12	49416091	49416091	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49416091C>G	ENST00000301067.7	-	52	16383	c.16384G>C	c.(16384-16386)Gat>Cat	p.D5462H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5462	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AACGTAGCATCAATCACATGT	0.512																																																	0													70.0	69.0	69.0					12																	49416091		2102	4215	6317	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16384G>C	12.37:g.49416091C>G	ENSP00000301067:p.Asp5462His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D5462H	ENST00000301067.7	37	c.16384	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134753	0.56828	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85702	-2.02;-2.02	5.11	5.11	0.69529	SET domain (3);	0.000000	0.37136	N	0.002236	D	0.95878	0.8658	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97730	1.0202	10	0.87932	D	0	.	17.7533	0.88441	0.0:1.0:0.0:0.0	.	5462	O14686	MLL2_HUMAN	H	5462;143	ENSP00000301067:D5462H;ENSP00000435714:D143H	ENSP00000301067:D5462H	D	-	1	0	MLL2	47702358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.868000	0.63021	2.565000	0.86533	0.650000	0.86243	GAT	MLL2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49416091	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	G
KMT2D	8085	genome.wustl.edu	37	12	49426526	49426526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:49426526G>A	ENST00000301067.7	-	39	11961	c.11962C>T	c.(11962-11964)Cag>Tag	p.Q3988*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3988	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3718*(1)									TGTTGTTGCTGAGGAGACAGT	0.532																																																	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											64.0	70.0	68.0					12																	49426526		2196	4296	6492	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11962C>T	12.37:g.49426526G>A	ENSP00000301067:p.Gln3988*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3988*	ENST00000301067.7	37	c.11962	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	50	17.079656	0.99878	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.88	4.88	0.63580	.	0.000000	0.34652	N	0.003786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6695	0.88212	0.0:0.0:1.0:0.0	.	.	.	.	X	3988	.	ENSP00000301067:Q3988X	Q	-	1	0	MLL2	47712793	0.997000	0.39634	1.000000	0.80357	0.099000	0.18886	3.213000	0.51153	2.643000	0.89663	0.655000	0.94253	CAG	MLL2	-	NULL		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49426526	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151878871	151878871	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:151878871G>C	ENST00000262189.6	-	36	6292	c.6074C>G	c.(6073-6075)tCa>tGa	p.S2025*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S2025*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2025	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGTGCATATGAGTCAGGTAT	0.468																																																	0													119.0	115.0	116.0					7																	151878871		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6074C>G	7.37:g.151878871G>C	ENSP00000262189:p.Ser2025*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2025*	ENST00000262189.6	37	c.6074	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.000636	0.99774	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.28	5.28	0.74379	.	0.742338	0.11320	N	0.576125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.8324	0.63389	0.0:0.0:0.847:0.153	.	.	.	.	X	2025	.	ENSP00000262189:S2025X	S	-	2	0	MLL3	151509804	1.000000	0.71417	0.726000	0.30738	0.876000	0.50452	7.763000	0.85283	2.483000	0.83821	0.563000	0.77884	TCA	MLL3	-	NULL		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151878871	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.997	C
KMT2C	58508	genome.wustl.edu	37	7	151879322	151879322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:151879322G>A	ENST00000262189.6	-	36	5841	c.5623C>T	c.(5623-5625)Cag>Tag	p.Q1875*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1875*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1875	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAGGGTGGCTGAGAAGTCTGA	0.522																																																	0													87.0	88.0	87.0					7																	151879322		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5623C>T	7.37:g.151879322G>A	ENSP00000262189:p.Gln1875*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1875*	ENST00000262189.6	37	c.5623	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.639293	0.99804	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.3	5.3	0.74995	.	0.000000	0.42682	D	0.000679	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.9258	0.88982	0.0:0.0:1.0:0.0	.	.	.	.	X	1875	.	ENSP00000262189:Q1875X	Q	-	1	0	MLL3	151510255	1.000000	0.71417	0.980000	0.43619	0.911000	0.54048	6.913000	0.75759	2.468000	0.83385	0.563000	0.77884	CAG	MLL3	-	NULL		0.522	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151879322	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MLLT3	4300	genome.wustl.edu	37	9	20365705	20365705	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:20365705G>C	ENST00000380338.4	-	6	1449	c.1163C>G	c.(1162-1164)tCc>tGc	p.S388C	MLLT3_ENST00000380321.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S385C	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	388	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctggagctggagctggagct	0.438			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0													143.0	133.0	136.0					9																	20365705		2203	4300	6503	SO:0001583	missense	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1163C>G	9.37:g.20365705G>C	ENSP00000369695:p.Ser388Cys		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S388C	ENST00000380338.4	37	c.1163	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088319	0.76756	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.7	5.7	0.88788	.	0.052059	0.85682	D	0.000000	T	0.78929	0.4361	M	0.74881	2.28	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70935	0.971;0.971	T	0.80350	-0.1419	9	0.87932	D	0	-8.2778	16.9321	0.86192	0.0:0.0:1.0:0.0	.	385;388	B7Z755;P42568	.;AF9_HUMAN	C	388;385;427	.	ENSP00000369695:S388C	S	-	2	0	MLLT3	20355705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.033000	0.64146	2.850000	0.98022	0.650000	0.86243	TCC	MLLT3	-	NULL		0.438	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	G	NM_004529		20365705	-1	no_errors	ENST00000380338	ensembl	human	known	70_37	missense	SNP	1.000	C
MLNR	2862	genome.wustl.edu	37	13	49795333	49795333	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:49795333C>T	ENST00000218721.1	+	1	860	c.860C>T	c.(859-861)tCg>tTg	p.S287L	MLNR_ENST00000398307.1_Missense_Mutation_p.S287L	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	287					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCGGCCGCCTCGGGGCGGGAG	0.721																																																	0													7.0	9.0	8.0					13																	49795333		1956	3792	5748	SO:0001583	missense	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.860C>T	13.37:g.49795333C>T	ENSP00000218721:p.Ser287Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S287L	ENST00000218721.1	37	c.860	CCDS9414.1	13	.	.	.	.	.	.	.	.	.	.	C	7.063	0.566819	0.13560	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.41400	1.0;1.0	4.43	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.644375	0.14515	N	0.314803	T	0.32376	0.0827	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24154	-1.0168	10	0.33141	T	0.24	-3.2095	5.1987	0.15252	0.1536:0.6279:0.0:0.2186	.	287	O43193	MTLR_HUMAN	L	287	ENSP00000218721:S287L;ENSP00000381352:S287L	ENSP00000218721:S287L	S	+	2	0	MLNR	48693334	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.777000	0.26718	0.094000	0.17404	0.462000	0.41574	TCG	MLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM		0.721	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	C	NM_001507		49795333	+1	no_errors	ENST00000218721	ensembl	human	known	70_37	missense	SNP	0.001	T
MLXIPL	51085	genome.wustl.edu	37	7	73013893	73013893	+	Missense_Mutation	SNP	G	G	A	rs551026243		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:73013893G>A	ENST00000313375.3	-	8	1081	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	MLXIPL_ENST00000395189.1_Missense_Mutation_p.S252L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S345L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S345L|MLXIPL_ENST00000414749.2_Missense_Mutation_p.S345L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.S252L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	345					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCATGGCCGAGGAAGCCGG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14850	0.0		0.0	False		,,,				2504	0.0																0													42.0	49.0	47.0					7																	73013893		2203	4300	6503	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1034C>T	7.37:g.73013893G>A	ENSP00000320886:p.Ser345Leu		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S345L	ENST00000313375.3	37	c.1034	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	g	2.487	-0.318238	0.05386	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24538	2.54;2.54;2.54;2.54;1.87;1.85	4.52	2.44	0.29823	.	1.562160	0.04227	U	0.334589	T	0.18087	0.0434	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B	0.15473	0.013;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.002;0.002	T	0.26573	-1.0099	10	0.45353	T	0.12	0.1079	7.1439	0.25573	0.2382:0.0:0.7618:0.0	.	252;252;345;345;345;345	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	L	345;345;345;345;252;252;178	ENSP00000412330:S345L;ENSP00000406296:S345L;ENSP00000320886:S345L;ENSP00000346629:S345L;ENSP00000378616:S252L;ENSP00000392636:S252L	ENSP00000320886:S345L	S	-	2	0	MLXIPL	72651829	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.601000	0.24119	0.224000	0.20940	0.550000	0.68814	TCG	MLXIPL	-	NULL		0.647	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	G	NM_032951		73013893	-1	no_errors	ENST00000313375	ensembl	human	known	70_37	missense	SNP	0.001	A
MMP10	4319	genome.wustl.edu	37	11	102645984	102645984	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:102645984G>C	ENST00000279441.4	-	7	1037	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	334					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGATGGAAGAGAGGGCCAAAA	0.353																																																	0													69.0	70.0	70.0					11																	102645984		2203	4299	6502	SO:0001583	missense	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1001C>G	11.37:g.102645984G>C	ENSP00000279441:p.Ser334Cys		B2R9X9|Q53HH9	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.S334C	ENST00000279441.4	37	c.1001	CCDS8321.1	11	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030502	0.19512	.	.	ENSG00000166670	ENST00000279441	T	0.02763	4.17	4.23	3.32	0.38043	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.723751	0.12799	N	0.438173	T	0.14743	0.0356	M	0.90252	3.1	0.09310	N	0.999999	D	0.71674	0.998	D	0.65573	0.936	T	0.10132	-1.0643	10	0.72032	D	0.01	.	5.3887	0.16231	0.229:0.1623:0.6087:0.0	.	334	P09238	MMP10_HUMAN	C	334	ENSP00000279441:S334C	ENSP00000279441:S334C	S	-	2	0	MMP10	102151194	0.000000	0.05858	0.954000	0.39281	0.121000	0.20230	0.655000	0.24933	1.117000	0.41842	0.650000	0.86243	TCT	MMP10	-	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.353	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	HGNC	protein_coding	OTTHUMT00000398014.1	G			102645984	-1	no_errors	ENST00000279441	ensembl	human	known	70_37	missense	SNP	0.099	C
MOBP	4336	genome.wustl.edu	37	3	39544051	39544051	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:39544051C>G	ENST00000420739.1	+	4	456	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	MOBP_ENST00000447324.1_Intron|MOBP_ENST00000479860.1_Intron|MOBP_ENST00000383754.3_Intron|MOBP_ENST00000415443.1_Intron|MOBP_ENST00000396228.1_Intron|MOBP_ENST00000428261.1_Intron|MOBP_ENST00000441980.2_Missense_Mutation_p.Q78E|MOBP_ENST00000354668.4_Missense_Mutation_p.Q78E|MOBP_ENST00000311042.6_Missense_Mutation_p.Q102E			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	78	Pro-rich.				intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		CAAGTCCCCTCAGAGGCCCAA	0.687																																																	0													8.0	8.0	8.0					3																	39544051		870	1974	2844	SO:0001583	missense	4336			D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.232C>G	3.37:g.39544051C>G	ENSP00000400491:p.Gln78Glu		A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Missense_Mutation	SNP	NULL	p.Q78E	ENST00000420739.1	37	c.232		3	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213351	0.09757	.	.	ENSG00000168314	ENST00000354668;ENST00000420739;ENST00000441980;ENST00000311042	T	0.20069	2.1	3.45	1.57	0.23409	.	0.355450	0.27319	N	0.019919	T	0.07818	0.0196	.	.	.	0.20307	N	0.999916	B;B	0.28291	0.048;0.206	B;B	0.25140	0.036;0.058	T	0.39165	-0.9627	9	0.05351	T	0.99	-0.915	9.9819	0.41819	0.3648:0.6352:0.0:0.0	.	78;102	Q13875;G5E945	MOBP_HUMAN;.	E	78;78;78;102	ENSP00000312293:Q102E	ENSP00000312293:Q102E	Q	+	1	0	MOBP	39519055	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	0.768000	0.26590	0.436000	0.26393	0.549000	0.68633	CAG	MOBP	-	NULL		0.687	MOBP-001	KNOWN	basic	protein_coding	MOBP	HGNC	protein_coding	OTTHUMT00000343711.1	C	NM_006501, NM_182934, NM_182935		39544051	+1	no_errors	ENST00000354668	ensembl	human	known	70_37	missense	SNP	1.000	G
MOCS1	4337	genome.wustl.edu	37	6	39874883	39874883	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:39874883C>G	ENST00000340692.5	-	11	1164	c.1161G>C	c.(1159-1161)ttG>ttC	p.L387F	MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.L387F|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.L284F|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000308559.7_Missense_Mutation_p.L371F			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	387					Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGGGAACATCAAAAATAACT	0.488																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													26.0	31.0	29.0					6																	39874883		2194	4299	6493	SO:0001583	missense	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1161G>C	6.37:g.39874883C>G	ENSP00000344794:p.Leu387Phe		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.L387F	ENST00000340692.5	37	c.1161		6	.	.	.	.	.	.	.	.	.	.	C	6.558	0.471263	0.12461	.	.	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.32023	1.51;1.51;1.48;1.47	4.87	1.88	0.25563	.	1.784800	0.02823	N	0.125775	T	0.09069	0.0224	.	.	.	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.004	T	0.22941	-1.0202	9	0.56958	D	0.05	-0.0054	5.6799	0.17769	0.0:0.651:0.0:0.349	.	371;387;387	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	F	371;284;387;387	ENSP00000309843:L371F;ENSP00000362291:L284F;ENSP00000344794:L387F;ENSP00000416478:L387F	ENSP00000309843:L371F	L	-	3	2	MOCS1	39982861	0.014000	0.17966	0.001000	0.08648	0.558000	0.35554	1.351000	0.34022	0.644000	0.30656	0.563000	0.77884	TTG	MOCS1	-	NULL		0.488	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	C	NM_005943		39874883	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	missense	SNP	0.000	G
MORC3	23515	genome.wustl.edu	37	21	37741550	37741550	+	Silent	SNP	A	A	G	rs532768592	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:37741550A>G	ENST00000400485.1	+	15	1960	c.1884A>G	c.(1882-1884)tcA>tcG	p.S628S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	628					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CAAGCACCTCATCATCCCGAT	0.453													A|||	15	0.00299521	0.0	0.0	5008	,	,		20777	0.0		0.0	False		,,,				2504	0.0153																0													211.0	205.0	207.0					21																	37741550		2118	4236	6354	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1884A>G	21.37:g.37741550A>G			A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S628	ENST00000400485.1	37	c.1884	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.453	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	A	NM_015358		37741550	+1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	0.000	G
MPPED1	758	genome.wustl.edu	37	22	43821022	43821022	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:43821022C>T	ENST00000417669.2	+	2	475	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Silent_p.L44L|MPPED1_ENST00000443721.1_Silent_p.L11L|MPPED1_ENST00000542779.1_Silent_p.L11L|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	11							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TGCCAGCGTCCTGAAGGCGGA	0.741																																																	0													15.0	20.0	18.0					22																	43821022		2083	4204	6287	SO:0001819	synonymous_variant	758			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.31C>T	22.37:g.43821022C>T			A8K159|B7Z2S9|Q8N361	Silent	SNP	pfam_Metallo_PEstase_dom	p.L44	ENST00000417669.2	37	c.130	CCDS46723.1	22																																																																																			MPPED1	-	NULL		0.741	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	HGNC	protein_coding	OTTHUMT00000318938.2	C	NM_001044370		43821022	+1	no_errors	ENST00000538182	ensembl	human	known	70_37	silent	SNP	1.000	T
MRGPRX1	259249	genome.wustl.edu	37	11	18955407	18955407	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:18955407G>C	ENST00000302797.3	-	1	1149	c.925C>G	c.(925-927)Cct>Gct	p.P309A	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	309					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATTTCCTCAGGAAGCTGCCCT	0.582																																																	0													71.0	67.0	68.0					11																	18955407		2194	4285	6479	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.925C>G	11.37:g.18955407G>C	ENSP00000305766:p.Pro309Ala		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P309A	ENST00000302797.3	37	c.925	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	4.103	0.017197	0.07959	.	.	ENSG00000170255	ENST00000302797	T	0.18960	2.18	2.14	0.152	0.14893	.	0.727411	0.12381	N	0.473917	T	0.15478	0.0373	L	0.52266	1.64	0.09310	N	1	B	0.32245	0.361	B	0.27500	0.08	T	0.17930	-1.0353	10	0.52906	T	0.07	.	4.4111	0.11434	0.3624:0.0:0.6376:0.0	.	309	Q96LB2	MRGX1_HUMAN	A	309	ENSP00000305766:P309A	ENSP00000305766:P309A	P	-	1	0	MRGPRX1	18911983	0.010000	0.17322	0.009000	0.14445	0.005000	0.04900	1.102000	0.31050	0.036000	0.15547	-0.339000	0.08088	CCT	MRGPRX1	-	NULL		0.582	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	G	NM_147199		18955407	-1	no_errors	ENST00000302797	ensembl	human	known	70_37	missense	SNP	0.052	C
MRPL28	10573	genome.wustl.edu	37	16	420123	420123	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:420123C>T	ENST00000199706.8	-	2	131	c.96G>A	c.(94-96)ctG>ctA	p.L32L	MRPL28_ENST00000389675.2_Silent_p.L32L|MRPL28_ENST00000429738.1_5'Flank	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	32					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GCTCCTCCTCCAGGGAGCGCA	0.652																																																	0													45.0	42.0	43.0					16																	420123		2188	4292	6480	SO:0001819	synonymous_variant	10573			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.96G>A	16.37:g.420123C>T			B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	NULL	p.L32	ENST00000199706.8	37	c.96	CCDS32349.1	16																																																																																			MRPL28	-	NULL		0.652	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	HGNC	protein_coding	OTTHUMT00000139285.2	C			420123	-1	no_errors	ENST00000199706	ensembl	human	known	70_37	silent	SNP	0.161	T
MRPL28	10573	genome.wustl.edu	37	16	420171	420171	+	Silent	SNP	C	C	T	rs139612920		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:420171C>T	ENST00000199706.8	-	2	83	c.48G>A	c.(46-48)ctG>ctA	p.L16L	MRPL28_ENST00000389675.2_Silent_p.L16L|MRPL28_ENST00000429738.1_5'Flank	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	16					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				TGCCCTCCCGCAGCTGCAGCC	0.687																																																	0													16.0	17.0	17.0					16																	420171		2169	4277	6446	SO:0001819	synonymous_variant	10573			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.48G>A	16.37:g.420171C>T			B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	NULL	p.L16	ENST00000199706.8	37	c.48	CCDS32349.1	16																																																																																			MRPL28	-	NULL		0.687	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	HGNC	protein_coding	OTTHUMT00000139285.2	C			420171	-1	no_errors	ENST00000199706	ensembl	human	known	70_37	silent	SNP	0.999	T
MRPS18B	28973	genome.wustl.edu	37	6	30587278	30587278	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:30587278C>G	ENST00000259873.4	+	2	244	c.87C>G	c.(85-87)ctC>ctG	p.L29L	PPP1R10_ENST00000376511.2_5'Flank|MRPS18B_ENST00000506373.2_Silent_p.L29L|PPP1R10_ENST00000484449.1_5'Flank|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	29					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						AGGTTCCCCTCCAGACTCTTT	0.403																																																	0													73.0	89.0	84.0					6																	30587278		1507	2707	4214	SO:0001819	synonymous_variant	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.87C>G	6.37:g.30587278C>G			A6NDQ0|Q659G4|Q9BS27	Silent	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.L29	ENST00000259873.4	37	c.87	CCDS4682.1	6																																																																																			MRPS18B	-	NULL		0.403	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	C			30587278	+1	no_errors	ENST00000259873	ensembl	human	known	70_37	silent	SNP	0.989	G
MRPS30	10884	genome.wustl.edu	37	5	44809106	44809106	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:44809106G>A	ENST00000507110.1	+	1	80	c.42G>A	c.(40-42)ccG>ccA	p.P14P	RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	14					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TACGCGGTCCGAGGCTTTCAT	0.637																																																	0													12.0	12.0	12.0					5																	44809106		2169	4253	6422	SO:0001819	synonymous_variant	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.42G>A	5.37:g.44809106G>A			Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	pfam_Ribosomal_L37/S30	p.P14	ENST00000507110.1	37	c.42	CCDS3951.1	5																																																																																			MRPS30	-	pfam_Ribosomal_L37/S30		0.637	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	HGNC	protein_coding	OTTHUMT00000214033.2	G	NM_016640		44809106	+1	no_errors	ENST00000507110	ensembl	human	known	70_37	silent	SNP	0.000	A
MT-ND5	4540	genome.wustl.edu	37	M	12633	12633	+	Silent	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrM:12633C>A	ENST00000361567.2	+	1	297	c.297C>A	c.(295-297)tcC>tcA	p.S99S	MT-TE_ENST00000387459.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	99			S -> P. {ECO:0000269|PubMed:1757091}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GTTACATGGTCCATCATAGAA	0.368																																																	0																																										SO:0001819	synonymous_variant	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.297C>A	M.37:g.12633C>A			Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.S99	ENST00000361567.2	37	c.297		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5		0.368	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		C	YP_003024036		12633	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	silent	SNP	NULL	A
MT-ND5	4540	genome.wustl.edu	37	M	13780	13780	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrM:13780A>G	ENST00000361567.2	+	1	1444	c.1444A>G	c.(1444-1446)Atc>Gtc	p.I482V	MT-TE_ENST00000387459.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	482					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCCAAACAACAATCCCCCTCT	0.468																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1444A>G	M.37:g.13780A>G	ENSP00000354813:p.Ile482Val		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.I482V	ENST00000361567.2	37	c.1444		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5		0.468	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		A	YP_003024036		13780	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	G
MT1E	4493	genome.wustl.edu	37	16	56660658	56660658	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:56660658C>T	ENST00000306061.6	+	3	471				MT1E_ENST00000568293.1_Intron|MT1E_ENST00000330439.6_Silent_p.F103F	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										CCTATGGTTTCAGAACAGAGC	0.542																																																	0																																										SO:0001627	intron_variant	4493			BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.95-134C>T	16.37:g.56660658C>T			A2RRF7|Q86YX4|Q8TD51	Silent	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom	p.F103	ENST00000306061.6	37	c.309	CCDS10764.2	16																																																																																			MT1E	-	NULL		0.542	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1E	HGNC	protein_coding	OTTHUMT00000256600.1	C	NM_175617		56660658	+1	no_errors	ENST00000330439	ensembl	human	putative	70_37	silent	SNP	0.000	T
MTDH	92140	genome.wustl.edu	37	8	98718853	98718853	+	Splice_Site	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:98718853G>C	ENST00000336273.3	+	8	1475		c.e8-1		MTDH_ENST00000519934.1_Splice_Site	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin						lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TTAAATTTTAGATGGTCTGTC	0.373																																																	0													89.0	89.0	89.0					8																	98718853		2203	4300	6503	SO:0001630	splice_region_variant	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1148-1G>C	8.37:g.98718853G>C			Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Splice_Site	SNP	-	e8-1	ENST00000336273.3	37	c.1148-1	CCDS6274.1	8	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595556	0.66219	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5505	0.84471	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTDH	98788029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.711000	0.92665	0.655000	0.94253	.	MTDH	-	-		0.373	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	G		Intron	98718853	+1	no_errors	ENST00000336273	ensembl	human	known	70_37	splice_site	SNP	1.000	C
MTFP1	51537	genome.wustl.edu	37	22	30822800	30822800	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:30822800G>A	ENST00000266263.5	+	2	513	c.163G>A	c.(163-165)Gat>Aat	p.D55N	MTFP1_ENST00000355143.4_Missense_Mutation_p.D55N|MTFP1_ENST00000407550.3_Missense_Mutation_p.D55N|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.D227N	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	55					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						CGTGCTGGCGGATGCCATTGA	0.582											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	85.0	84.0					22																	30822800		2203	4300	6503	SO:0001583	missense	51537			AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.163G>A	22.37:g.30822800G>A	ENSP00000266263:p.Asp55Asn	820	A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	pfam_Mitochondrial_18_kDa_protein_	p.D55N	ENST00000266263.5	37	c.163	CCDS33635.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.924744	0.97110	.	.	ENSG00000249590;ENSG00000242114;ENSG00000242114;ENSG00000242114	ENST00000439838;ENST00000266263;ENST00000355143;ENST00000407550	D	0.83837	-1.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94266	0.7506	10	0.72032	D	0.01	-13.6586	18.0235	0.89262	0.0:0.0:1.0:0.0	.	55;55	Q9UDX5-2;Q9UDX5	.;MTFP1_HUMAN	N	227;55;55;55	ENSP00000415178:D227N	ENSP00000266263:D55N	D	+	1	0	MTFP1;RP4-539M6.19	29152800	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	9.026000	0.93700	2.557000	0.86248	0.655000	0.94253	GAT	MTFP1	-	pfam_Mitochondrial_18_kDa_protein_		0.582	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFP1	HGNC	protein_coding	OTTHUMT00000321126.3	G	NM_016498		30822800	+1	no_errors	ENST00000266263	ensembl	human	known	70_37	missense	SNP	1.000	A
MUC4	4585	genome.wustl.edu	37	3	195475853	195475853	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:195475853G>A	ENST00000346145.4	-	23	3285	c.3246C>T	c.(3244-3246)ttC>ttT	p.F1082F	MUC4_ENST00000475231.1_Silent_p.F5266F|MUC4_ENST00000349607.4_Silent_p.F1031F|MUC4_ENST00000463781.3_Silent_p.F5318F	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2075					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACGCAGGTGAAGCCGCTCT	0.632																																																	0													74.0	65.0	68.0					3																	195475853		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3246C>T	3.37:g.195475853G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.F5318	ENST00000346145.4	37	c.15954	CCDS3310.1	3																																																																																			MUC4	-	NULL		0.632	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195475853	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.993	A
MUC4	4585	genome.wustl.edu	37	3	195511420	195511420	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:195511420G>A	ENST00000463781.3	-	2	7490	c.7031C>T	c.(7030-7032)tCa>tTa	p.S2344L	MUC4_ENST00000475231.1_Missense_Mutation_p.S2344L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGGGCT	0.587																																																	0													5.0	8.0	7.0					3																	195511420		540	1444	1984	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7031C>T	3.37:g.195511420G>A	ENSP00000417498:p.Ser2344Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2344L	ENST00000463781.3	37	c.7031	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	6.896	0.534858	0.13188	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34275	1.44;1.37	.	.	.	.	.	.	.	.	T	0.19525	0.0469	N	0.19112	0.55	0.20563	N	0.999881	P	0.42584	0.784	B	0.39706	0.307	T	0.08472	-1.0720	7	.	.	.	.	3.4513	0.07499	1.0E-4:1.0E-4:0.552:0.4478	.	2344	E7ESK3	.	L	2344	ENSP00000417498:S2344L;ENSP00000420243:S2344L	.	S	-	2	0	MUC4	196995815	0.051000	0.20477	0.006000	0.13384	0.019000	0.09904	1.052000	0.30429	0.488000	0.27723	0.064000	0.15345	TCA	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511420	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.541	A
MUC4	4585	genome.wustl.edu	37	3	195515701	195515701	+	Missense_Mutation	SNP	C	C	G	rs372277800		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:195515701C>G	ENST00000463781.3	-	2	3209	c.2750G>C	c.(2749-2751)aGa>aCa	p.R917T	MUC4_ENST00000475231.1_Missense_Mutation_p.R917T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	922	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCAGACCCTCTGCTGGTTCT	0.582																																																	0													164.0	163.0	163.0					3																	195515701		2129	4215	6344	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2750G>C	3.37:g.195515701C>G	ENSP00000417498:p.Arg917Thr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.R917T	ENST00000463781.3	37	c.2750	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	c	5.384	0.256153	0.10185	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.51817	0.69;0.71	2.78	1.88	0.25563	.	1.952920	0.02765	N	0.119040	T	0.33089	0.0851	N	0.19112	0.55	0.09310	N	1	B;B	0.26081	0.03;0.141	B;B	0.20767	0.031;0.031	T	0.16217	-1.0410	10	0.11485	T	0.65	.	9.88	0.41227	0.0:0.7888:0.2112:0.0	.	917;922	E7ESK3;Q99102	.;MUC4_HUMAN	T	917;917;891	ENSP00000417498:R917T;ENSP00000420243:R917T	ENSP00000376209:R891T	R	-	2	0	MUC4	197000096	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.316000	0.02710	0.726000	0.32339	0.579000	0.79373	AGA	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195515701	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.025	G
MUC5B	727897	genome.wustl.edu	37	11	1267602	1267602	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:1267602C>G	ENST00000529681.1	+	31	9550	c.9492C>G	c.(9490-9492)ctC>ctG	p.L3164L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L3167L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3164	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGATCCTCACAGAGCCCA	0.667																																																	0													78.0	96.0	90.0					11																	1267602		2096	4181	6277	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9492C>G	11.37:g.1267602C>G			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L3167	ENST00000529681.1	37	c.9501	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.685	-0.274575	0.05679	.	.	ENSG00000117983	ENST00000538459	.	.	.	1.48	-2.96	0.05547	.	.	.	.	.	T	0.18173	0.0436	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34054	-0.9844	5	0.11794	T	0.64	.	8.8228	0.35036	0.742:0.2579:0.0:0.0	.	.	.	.	D	54	.	ENSP00000442622:H54D	H	+	1	0	MUC5B	1224178	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-2.108000	0.01336	-0.841000	0.04200	0.186000	0.17326	CAC	MUC5B	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1267602	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	G
MUC5B	727897	genome.wustl.edu	37	11	1271508	1271508	+	Silent	SNP	G	G	A	rs12418291	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:1271508G>A	ENST00000529681.1	+	31	13456	c.13398G>A	c.(13396-13398)acG>acA	p.T4466T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4469T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4466	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGATCCACGGCCACCGCCT	0.672													G|||	1698	0.339058	0.2133	0.3242	5008	,	,		18754	0.5992		0.2853	False		,,,				2504	0.3067																0								G		781,3161		75,631,1265	42.0	51.0	48.0		13398	-0.0	0.0	11	dbSNP_120	48	2487,5713		417,1653,2030	no	coding-synonymous	MUC5B	NM_002458.2		492,2284,3295	AA,AG,GG		30.3293,19.8123,26.9148		4466/5763	1271508	3268,8874	1971	4100	6071	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13398G>A	11.37:g.1271508G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4469	ENST00000529681.1	37	c.13407	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1271508	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.001	A
MXRA5	25878	genome.wustl.edu	37	X	3241076	3241076	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:3241076G>C	ENST00000217939.6	-	5	2804	c.2650C>G	c.(2650-2652)Ctg>Gtg	p.L884V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	884						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTTCCTCCAGAGGTGTGCTT	0.483																																																	0													99.0	86.0	90.0					X																	3241076		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2650C>G	X.37:g.3241076G>C	ENSP00000217939:p.Leu884Val		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L884V	ENST00000217939.6	37	c.2650	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	3.141	-0.176268	0.06380	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64618	-0.11	3.63	-1.26	0.09376	.	1.472120	0.05085	N	0.484326	T	0.31888	0.0811	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13308	-1.0514	10	0.07482	T	0.82	.	0.4568	0.00510	0.2454:0.2548:0.2698:0.2301	.	884	Q9NR99	MXRA5_HUMAN	V	884	ENSP00000217939:L884V	ENSP00000217939:L884V	L	-	1	2	MXRA5	3251076	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.795000	0.04580	-0.285000	0.09089	-1.161000	0.01788	CTG	MXRA5	-	NULL		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3241076	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.000	C
LINC01317	104355287	genome.wustl.edu	37	2	33953001	33953001	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:33953001C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GACCCTACGACGGTGGGGGAC	0.657																																																	0																																												151325																															2.37:g.33953001C>T				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-		0.657	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	C			33953001	-1	no_errors	ENST00000474610	ensembl	human	known	70_37	rna	SNP	0.015	T
MYBPH	4608	genome.wustl.edu	37	1	203144510	203144510	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:203144510C>G	ENST00000255416.4	-	2	342	c.285G>C	c.(283-285)gaG>gaC	p.E95D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	95	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E95E(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCCCCAGCCTCTCTGGGGGCT	0.612																																					NSCLC(32;174 1025 14462 23899 42933)												1	Substitution - coding silent(1)	skin(1)											64.0	79.0	74.0					1																	203144510		2203	4300	6503	SO:0001583	missense	4608			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.285G>C	1.37:g.203144510C>G	ENSP00000255416:p.Glu95Asp		Q16886|Q86YC5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E95D	ENST00000255416.4	37	c.285	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947484	0.53186	.	.	ENSG00000133055	ENST00000255416	T	0.57907	0.37	5.51	2.11	0.27256	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.125201	0.35870	N	0.002936	T	0.49098	0.1537	L	0.50993	1.605	0.25927	N	0.983047	P	0.38863	0.65	P	0.47015	0.534	T	0.32428	-0.9907	10	0.23302	T	0.38	.	7.6046	0.28095	0.0:0.6771:0.1444:0.1785	.	95	Q13203	MYBPH_HUMAN	D	95	ENSP00000255416:E95D	ENSP00000255416:E95D	E	-	3	2	MYBPH	201411133	0.163000	0.22920	0.673000	0.29887	0.968000	0.65278	0.248000	0.18198	0.675000	0.31264	0.655000	0.94253	GAG	MYBPH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.612	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	C	NM_004997		203144510	-1	no_errors	ENST00000255416	ensembl	human	known	70_37	missense	SNP	0.450	G
MYCBP2	23077	genome.wustl.edu	37	13	77695598	77695598	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:77695598G>C	ENST00000544440.2	-	55	7953	c.7936C>G	c.(7936-7938)Cct>Gct	p.P2646A	MYCBP2_ENST00000407578.2_Missense_Mutation_p.P2684A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P2646A|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.P109A					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTGGAGGAGGAGTTTGAGAA	0.398																																																	0													84.0	84.0	84.0					13																	77695598		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7936C>G	13.37:g.77695598G>C	ENSP00000444596:p.Pro2646Ala			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.P2684A	ENST00000544440.2	37	c.8050		13	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494895	0.64186	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.44881	1.7;1.7;1.7;0.91	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.80764	0.994;0.971	T	0.46555	-0.9183	10	0.24483	T	0.36	.	19.3377	0.94326	0.0:0.0:1.0:0.0	.	2646;2646	O75592-2;O75592	.;MYCB2_HUMAN	A	2646;2684;2646;109	ENSP00000349892:P2646A;ENSP00000384288:P2684A;ENSP00000444596:P2646A;ENSP00000353197:P109A	ENSP00000349892:P2646A	P	-	1	0	MYCBP2	76593599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.455000	0.97625	2.547000	0.85894	0.563000	0.77884	CCT	MYCBP2	-	superfamily_ARM-type_fold		0.398	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77695598	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	C
MYL3	4634	genome.wustl.edu	37	3	46904775	46904775	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:46904775C>T	ENST00000395869.1	-	1	157	c.106G>A	c.(106-108)Gag>Aag	p.E36K	MYL3_ENST00000292327.4_Missense_Mutation_p.E36K			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	36					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GCATCAAACTCGACCTCCTTA	0.597																																					Melanoma(166;130 1949 2249 18977 46142)												0													137.0	139.0	138.0					3																	46904775		2203	4300	6503	SO:0001583	missense	4634				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.106G>A	3.37:g.46904775C>T	ENSP00000379210:p.Glu36Lys		B2R534|Q9NRS8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E36K	ENST00000395869.1	37	c.106	CCDS2746.1	3	.	.	.	.	.	.	.	.	.	.	c	11.01	1.514118	0.27123	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84873	-1.91;-1.91	4.67	3.63	0.41609	.	0.315116	0.29660	N	0.011538	T	0.68504	0.3008	L	0.32530	0.975	0.09310	N	0.999996	B	0.33379	0.41	B	0.14578	0.011	T	0.53718	-0.8399	10	0.13853	T	0.58	-32.9329	5.0026	0.14271	0.0:0.6554:0.2002:0.1444	.	36	P08590	MYL3_HUMAN	K	36	ENSP00000379210:E36K;ENSP00000292327:E36K	ENSP00000292327:E36K	E	-	1	0	MYL3	46879779	0.009000	0.17119	0.487000	0.27428	0.509000	0.34042	2.402000	0.44521	1.068000	0.40764	0.556000	0.70494	GAG	MYL3	-	NULL		0.597	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL3	HGNC	protein_coding	OTTHUMT00000259165.2	C	NM_000258		46904775	-1	no_errors	ENST00000292327	ensembl	human	known	70_37	missense	SNP	0.218	T
MYLK	4638	genome.wustl.edu	37	3	123385156	123385156	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:123385156C>T	ENST00000475616.1	-	19	3740	c.3741G>A	c.(3739-3741)caG>caA	p.Q1247Q	MYLK_ENST00000359169.1_Silent_p.Q1247Q|MYLK_ENST00000346322.5_Silent_p.Q1178Q|MYLK_ENST00000360304.3_Silent_p.Q1247Q|MYLK_ENST00000354792.5_Silent_p.Q47Q|MYLK_ENST00000360772.3_Silent_p.Q1247Q|MYLK_ENST00000510775.1_5'UTR			Q15746	MYLK_HUMAN	myosin light chain kinase	1247	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGCGTACCTTCTGGTCCTCAG	0.557																																																	0													102.0	76.0	84.0					3																	123385156		2203	4300	6503	SO:0001819	synonymous_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3741G>A	3.37:g.123385156C>T			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q1247	ENST00000475616.1	37	c.3741	CCDS46896.1	3																																																																																			MYLK	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	C	NM_053025		123385156	-1	no_errors	ENST00000360304	ensembl	human	known	70_37	silent	SNP	0.988	T
MYO15A	51168	genome.wustl.edu	37	17	18025405	18025405	+	Silent	SNP	A	A	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:18025405A>C	ENST00000205890.5	+	2	3629	c.3291A>C	c.(3289-3291)ccA>ccC	p.P1097P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1097					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGGGCCCCAGAGCCCCTGC	0.677																																																	0													38.0	44.0	42.0					17																	18025405		1920	4114	6034	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3291A>C	17.37:g.18025405A>C			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.P1097	ENST00000205890.5	37	c.3291	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	A	NM_016239		18025405	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.001	C
MYOM2	9172	genome.wustl.edu	37	8	2054351	2054351	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:2054351G>A	ENST00000262113.4	+	23	3103	c.2962G>A	c.(2962-2964)Gac>Aac	p.D988N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D413N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	988	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGTGATACAGACGGAGTGTC	0.418																																																	0													102.0	99.0	100.0					8																	2054351		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2962G>A	8.37:g.2054351G>A	ENSP00000262113:p.Asp988Asn		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D988N	ENST00000262113.4	37	c.2962	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767075	0.69878	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.40476	1.03;1.03	5.31	5.31	0.75309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110885	0.64402	D	0.000005	T	0.52484	0.1737	M	0.83223	2.63	0.58432	D	0.999998	P	0.47841	0.901	B	0.41946	0.371	T	0.64228	-0.6457	10	0.66056	D	0.02	.	18.9834	0.92763	0.0:0.0:1.0:0.0	.	988	P54296	MYOM2_HUMAN	N	988;413	ENSP00000262113:D988N;ENSP00000428396:D413N	ENSP00000262113:D988N	D	+	1	0	MYOM2	2041758	1.000000	0.71417	0.136000	0.22124	0.016000	0.09150	7.604000	0.82830	2.476000	0.83614	0.643000	0.83706	GAC	MYOM2	-	smart_Ig_sub,pfscan_Ig-like		0.418	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	G	NM_003970		2054351	+1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	1.000	A
MYOM3	127294	genome.wustl.edu	37	1	24419481	24419481	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:24419481G>A	ENST00000374434.3	-	10	1208	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	MYOM3_ENST00000330966.7_Missense_Mutation_p.S350L|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.S349L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAAGGGCGAGGGCACCCG	0.642																																																	0													30.0	35.0	33.0					1																	24419481		1986	4138	6124	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1046C>T	1.37:g.24419481G>A	ENSP00000363557:p.Ser349Leu		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S350L	ENST00000374434.3	37	c.1049	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276578	0.40294	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.43688	0.94;0.94;0.94	5.36	3.48	0.39840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.242278	0.42053	D	0.000766	T	0.53158	0.1779	M	0.66939	2.045	0.09310	N	1	D;P;D	0.69078	0.995;0.879;0.997	P;B;P	0.58454	0.73;0.358;0.839	T	0.44772	-0.9306	10	0.66056	D	0.02	.	8.741	0.34558	0.1776:0.0:0.8224:0.0	.	6;349;349	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	L	349;350;349	ENSP00000363557:S349L;ENSP00000332670:S350L;ENSP00000328415:S349L	ENSP00000328415:S349L	S	-	2	0	MYOM3	24292068	0.895000	0.30542	0.020000	0.16555	0.014000	0.08584	3.886000	0.56190	1.271000	0.44313	0.650000	0.86243	TCG	MYOM3	-	pfam_Ig_I-set,smart_Ig_sub		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	G	NM_152372		24419481	-1	no_errors	ENST00000330966	ensembl	human	known	70_37	missense	SNP	0.084	A
MYPOP	339344	genome.wustl.edu	37	19	46404855	46404855	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:46404855G>T	ENST00000322217.5	-	2	263	c.177C>A	c.(175-177)atC>atA	p.I59I		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	59	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						TCTTGGCGGCGATGCCGTCCC	0.677											OREG0032108	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																																					0													20.0	19.0	19.0					19																	46404855		2198	4297	6495	SO:0001819	synonymous_variant	339344			BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.177C>A	19.37:g.46404855G>T		939		Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I59	ENST00000322217.5	37	c.177	CCDS33055.1	19																																																																																			MYPOP	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.677	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYPOP	HGNC	protein_coding	OTTHUMT00000461684.1	G	NM_001012643		46404855	-1	no_errors	ENST00000322217	ensembl	human	known	70_37	silent	SNP	1.000	T
NADSYN1	55191	genome.wustl.edu	37	11	71195371	71195371	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:71195371C>G	ENST00000319023.2	+	15	1521	c.1333C>G	c.(1333-1335)Ctc>Gtc	p.L445V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.L185V|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Missense_Mutation_p.L74V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	445	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CCACATCAGTCTCAACATCGA	0.562																																					Ovarian(79;763 1781 6490 50276)												0													109.0	98.0	102.0					11																	71195371		2200	4294	6494	SO:0001583	missense	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1333C>G	11.37:g.71195371C>G	ENSP00000326424:p.Leu445Val		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.L445V	ENST00000319023.2	37	c.1333	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	C	2.434	-0.330267	0.05314	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.63	3.69	0.42338	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.409826	0.21853	N	0.068144	T	0.23766	0.0575	N	0.21373	0.66	0.28849	N	0.896139	B;B	0.06786	0.001;0.001	B;B	0.16289	0.008;0.015	T	0.13764	-1.0497	10	0.19147	T	0.46	-15.528	12.2751	0.54730	0.0:0.827:0.173:0.0	.	185;445	B3KUU4;Q6IA69	.;NADE_HUMAN	V	445;185;74;74	ENSP00000326424:L445V;ENSP00000443718:L185V;ENSP00000437172:L74V;ENSP00000431820:L74V	ENSP00000326424:L445V	L	+	1	0	NADSYN1	70873019	0.962000	0.33011	0.082000	0.20525	0.379000	0.30106	2.232000	0.43018	0.910000	0.36722	0.456000	0.33151	CTC	NADSYN1	-	pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase		0.562	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	C	NM_018161		71195371	+1	no_errors	ENST00000319023	ensembl	human	known	70_37	missense	SNP	0.716	G
NASP	4678	genome.wustl.edu	37	1	46073553	46073553	+	Missense_Mutation	SNP	G	G	A	rs201446871		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:46073553G>A	ENST00000350030.3	+	6	1057	c.970G>A	c.(970-972)Gag>Aag	p.E324K	NASP_ENST00000402363.3_Missense_Mutation_p.E326K|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.E260K|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	324	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CTCTGAAAACGAGGCAGGAAA	0.542																																																	0													66.0	64.0	65.0					1																	46073553		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.970G>A	1.37:g.46073553G>A	ENSP00000255120:p.Glu324Lys		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E326K	ENST00000350030.3	37	c.976	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	3.877	-0.026812	0.07589	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D	0.94537	-3.45;-3.45;-3.45	5.24	4.33	0.51752	.	0.422095	0.22714	N	0.056538	D	0.88511	0.6456	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.004;0.004;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.001;0.003;0.001;0.002	T	0.76116	-0.3077	9	.	.	.	-0.1991	8.8854	0.35400	0.0854:0.1919:0.7227:0.0	.	260;324;224;324;326	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	K	260;326;224;324;287	ENSP00000438871:E260K;ENSP00000384529:E326K;ENSP00000255120:E324K	.	E	+	1	0	NASP	45846140	0.335000	0.24748	0.166000	0.22797	0.014000	0.08584	1.324000	0.33712	1.539000	0.49286	0.557000	0.71058	GAG	NASP	-	NULL		0.542	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	G	NM_002482		46073553	+1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	0.022	A
NAV3	89795	genome.wustl.edu	37	12	78444742	78444742	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:78444742G>T	ENST00000397909.2	+	11	2504	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	NAV3_ENST00000266692.7_Silent_p.S777S|NAV3_ENST00000228327.6_Silent_p.S777S|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Silent_p.S777S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	777						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGACCCCTCGAGGTTCATGT	0.572										HNSCC(70;0.22)																																							0													66.0	66.0	66.0					12																	78444742		2074	4205	6279	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2331G>T	12.37:g.78444742G>T			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S777	ENST00000397909.2	37	c.2331		12																																																																																			NAV3	-	NULL		0.572	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444742	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	silent	SNP	0.004	T
NBEAL1	65065	genome.wustl.edu	37	2	203948174	203948174	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:203948174A>T	ENST00000449802.1	+	9	1250	c.917A>T	c.(916-918)cAt>cTt	p.H306L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	306										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AATTCAGATCATTCAGCTTTA	0.368																																																	0													116.0	103.0	107.0					2																	203948174		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.917A>T	2.37:g.203948174A>T	ENSP00000399903:p.His306Leu		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H306L	ENST00000449802.1	37	c.917	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819358	0.32145	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.67698	-0.28	5.59	3.16	0.36331	Armadillo-type fold (1);	0.786246	0.11704	N	0.537695	T	0.52092	0.1713	N	0.25647	0.755	0.37957	D	0.932853	B	0.06786	0.001	B	0.10450	0.005	T	0.35624	-0.9781	10	0.13470	T	0.59	.	12.6011	0.56497	0.7378:0.2622:0.0:0.0	.	306	Q6ZS30	NBEL1_HUMAN	L	306	ENSP00000399903:H306L	ENSP00000344985:H306L	H	+	2	0	NBEAL1	203656419	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.437000	0.44828	0.378000	0.24764	-0.418000	0.06021	CAT	NBEAL1	-	superfamily_ARM-type_fold		0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	A			203948174	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.999	T
NBEAL1	65065	genome.wustl.edu	37	2	203948177	203948177	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:203948177C>T	ENST00000449802.1	+	9	1253	c.920C>T	c.(919-921)tCa>tTa	p.S307L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	307										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGATCATTCAGCTTTACCT	0.368																																																	0													113.0	99.0	103.0					2																	203948177		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.920C>T	2.37:g.203948177C>T	ENSP00000399903:p.Ser307Leu		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S307L	ENST00000449802.1	37	c.920	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567113	0.65651	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.68181	-0.31	5.59	5.59	0.84812	Armadillo-type fold (1);	1.499520	0.03952	N	0.288605	T	0.66665	0.2812	L	0.47716	1.5	0.45194	D	0.998204	P	0.40578	0.722	B	0.33454	0.164	T	0.61481	-0.7054	10	0.48119	T	0.1	.	19.5944	0.95530	0.0:1.0:0.0:0.0	.	307	Q6ZS30	NBEL1_HUMAN	L	307	ENSP00000399903:S307L	ENSP00000344985:S307L	S	+	2	0	NBEAL1	203656422	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.805000	0.69143	2.627000	0.88993	0.563000	0.77884	TCA	NBEAL1	-	superfamily_ARM-type_fold		0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			203948177	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	T
NCOA1	8648	genome.wustl.edu	37	2	24930525	24930525	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24930525C>G	ENST00000406961.1	+	13	2838	c.2186C>G	c.(2185-2187)tCc>tGc	p.S729C	NCOA1_ENST00000407230.1_Missense_Mutation_p.S578C|NCOA1_ENST00000395856.3_Missense_Mutation_p.S729C|NCOA1_ENST00000405141.1_Missense_Mutation_p.S729C|NCOA1_ENST00000348332.3_Missense_Mutation_p.S729C|NCOA1_ENST00000288599.5_Missense_Mutation_p.S729C|NCOA1_ENST00000538539.1_Missense_Mutation_p.S729C			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	729					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGAAACTCCAGTATAAAA	0.403			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													92.0	88.0	89.0					2																	24930525		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2186C>G	2.37:g.24930525C>G	ENSP00000385216:p.Ser729Cys		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.S729C	ENST00000406961.1	37	c.2186	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536638	0.27475	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02085	4.58;4.58;4.46;4.58;4.58;4.58;4.58	6.04	6.04	0.98038	.	0.266709	0.43260	D	0.000581	T	0.02156	0.0067	N	0.08118	0	0.23341	N	0.997879	B;B;B;B	0.31351	0.32;0.214;0.25;0.07	B;B;B;B	0.35039	0.181;0.054;0.194;0.111	T	0.53173	-0.8476	10	0.52906	T	0.07	.	16.0332	0.80597	0.1349:0.8651:0.0:0.0	.	729;729;729;578	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	C	729;729;578;729;729;729;729	ENSP00000385216:S729C;ENSP00000385097:S729C;ENSP00000385195:S578C;ENSP00000444039:S729C;ENSP00000320940:S729C;ENSP00000288599:S729C;ENSP00000379197:S729C	ENSP00000288599:S729C	S	+	2	0	NCOA1	24784029	0.410000	0.25376	0.054000	0.19295	0.842000	0.47809	3.840000	0.55843	2.873000	0.98535	0.563000	0.77884	TCC	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.403	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	C	NM_147223		24930525	+1	no_errors	ENST00000348332	ensembl	human	known	70_37	missense	SNP	0.410	G
NBEAL1	65065	genome.wustl.edu	37	2	203948191	203948191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:203948191C>T	ENST00000449802.1	+	9	1267	c.934C>T	c.(934-936)Caa>Taa	p.Q312*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	312										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTACCTAATCAAAGGAGGTC	0.363																																																	0													97.0	84.0	88.0					2																	203948191		692	1591	2283	SO:0001587	stop_gained	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.934C>T	2.37:g.203948191C>T	ENSP00000399903:p.Gln312*		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q312*	ENST00000449802.1	37	c.934	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	40	7.955792	0.98580	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.59	5.59	0.84812	.	0.248098	0.28442	N	0.015325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.8372	0.63417	0.0:0.9269:0.0:0.0731	.	.	.	.	X	312	.	ENSP00000344985:Q312X	Q	+	1	0	NBEAL1	203656436	0.118000	0.22208	0.993000	0.49108	0.842000	0.47809	0.763000	0.26517	2.627000	0.88993	0.563000	0.77884	CAA	NBEAL1	-	superfamily_ARM-type_fold		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			203948191	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	nonsense	SNP	0.991	T
NCR2	9436	genome.wustl.edu	37	6	41318523	41318523	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:41318523C>T	ENST00000373089.5	+	5	840	c.752C>T	c.(751-753)tCa>tTa	p.S251L	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	251					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					tcagtttcctcacctgtagag	0.428																																																	0													86.0	77.0	80.0					6																	41318523		2203	4300	6503	SO:0001583	missense	9436			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.752C>T	6.37:g.41318523C>T	ENSP00000362181:p.Ser251Leu		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S251L	ENST00000373089.5	37	c.752	CCDS4855.1	6	.	.	.	.	.	.	.	.	.	.	C	9.540	1.113003	0.20795	.	.	ENSG00000096264	ENST00000373089	T	0.15952	2.38	2.47	0.583	0.17417	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.14023	0.01	T	0.43523	-0.9386	9	0.51188	T	0.08	.	3.6219	0.08099	0.0:0.5806:0.2632:0.1561	.	251	O95944	NCTR2_HUMAN	L	251	ENSP00000362181:S251L	ENSP00000362181:S251L	S	+	2	0	NCR2	41426501	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.259000	0.18405	0.131000	0.18576	-0.140000	0.14226	TCA	NCR2	-	NULL		0.428	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3	C			41318523	+1	no_errors	ENST00000373089	ensembl	human	known	70_37	missense	SNP	0.001	T
NDC80	10403	genome.wustl.edu	37	18	2608732	2608732	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:2608732G>C	ENST00000261597.4	+	15	1773	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	531	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATGTGCCAGTGAGCTTGAGTC	0.428																																																	0													115.0	108.0	110.0					18																	2608732		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1591G>C	18.37:g.2608732G>C	ENSP00000261597:p.Glu531Gln		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E531Q	ENST00000261597.4	37	c.1591	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495519	0.85069	.	.	ENSG00000080986	ENST00000261597	T	0.42131	0.98	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.58160	-0.7685	10	0.29301	T	0.29	-15.0647	19.0474	0.93027	0.0:0.0:1.0:0.0	.	531	O14777	NDC80_HUMAN	Q	531	ENSP00000261597:E531Q	ENSP00000261597:E531Q	E	+	1	0	NDC80	2598732	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	6.297000	0.72757	2.600000	0.87896	0.491000	0.48974	GAG	NDC80	-	superfamily_t-SNARE		0.428	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2608732	+1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	C
NDUFB10	4716	genome.wustl.edu	37	16	2009706	2009706	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:2009706G>A	ENST00000268668.6	+	1	198	c.81G>A	c.(79-81)atG>atA	p.M27I	NDUFB10_ENST00000543683.2_Missense_Mutation_p.M27I|NDUFB10_ENST00000569148.1_Missense_Mutation_p.M27I|RPL3L_ENST00000566484.1_5'Flank|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	27					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						TCGTCTACATGATGAAAGCGT	0.692																																																	0													68.0	63.0	65.0					16																	2009706		2199	4300	6499	SO:0001583	missense	4716			AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.81G>A	16.37:g.2009706G>A	ENSP00000268668:p.Met27Ile		Q96II6	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_su10	p.M27I	ENST00000268668.6	37	c.81	CCDS10451.1	16	.	.	.	.	.	.	.	.	.	.	G	2.986	-0.209277	0.06140	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	4.82	-1.32	0.09201	.	0.869339	0.10033	N	0.724535	T	0.11537	0.0281	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.32481	-0.9905	9	0.17369	T	0.5	-0.0572	5.4678	0.16652	0.0701:0.386:0.3315:0.2124	.	27;27	Q96II6;O96000	.;NDUBA_HUMAN	I	27	.	ENSP00000268668:M27I	M	+	3	0	NDUFB10	1949707	0.077000	0.21312	0.004000	0.12327	0.001000	0.01503	0.592000	0.23984	-0.188000	0.10499	-1.667000	0.00748	ATG	NDUFB10	-	NULL		0.692	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB10	HGNC	protein_coding	OTTHUMT00000250614.2	G	NM_004548		2009706	+1	no_errors	ENST00000268668	ensembl	human	known	70_37	missense	SNP	0.000	A
NEURL3	93082	genome.wustl.edu	37	2	97166533	97166533	+	RNA	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:97166533G>A	ENST00000310865.3	-	0	394							A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 3						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)										CGCACCGGCCGCTGGCTGAAC	0.731																																																	0													3.0	3.0	3.0					2																	97166533		1680	3448	5128			93082				CCDS74541.1, CCDS74542.1	2q11.2	2013-10-24	2013-10-24		ENSG00000163121	ENSG00000163121			25162	protein-coding gene	gene with protein product			"""neuralized homolog 3 (Drosophila) pseudogene"""			15936721	Standard	NM_001285486		Approved	Lincr, LOC93082	uc010yuo.2	Q96EH8	OTTHUMG00000128645		2.37:g.97166533G>A			C9DQJ5|C9DQJ6|C9DQJ7	RNA	SNP	-	NULL	ENST00000310865.3	37	NULL		2																																																																																			NEURL3	-	-		0.731	NEURL3-002	KNOWN	basic	processed_transcript	NEURL3	HGNC	pseudogene	OTTHUMT00000250521.1	G	NM_138397		97166533	-1	no_errors	ENST00000310865	ensembl	human	known	70_37	rna	SNP	1.000	A
NEUROG2	63973	genome.wustl.edu	37	4	113436006	113436006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:113436006G>T	ENST00000313341.3	-	2	952	c.626C>A	c.(625-627)tCg>tAg	p.S209*	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	209	Ser-rich.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGAGGCGGGCGAGGGGCTGTC	0.721																																																	0													22.0	26.0	25.0					4																	113436006		2197	4292	6489	SO:0001587	stop_gained	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.626C>A	4.37:g.113436006G>T	ENSP00000317333:p.Ser209*		Q8N416	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S209*	ENST00000313341.3	37	c.626	CCDS3698.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.435412	0.97564	.	.	ENSG00000178403	ENST00000313341	.	.	.	4.07	4.07	0.47477	.	0.000000	0.41605	D	0.000841	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3413	9.1117	0.36732	0.0:0.0:0.782:0.218	.	.	.	.	X	209	.	ENSP00000317333:S209X	S	-	2	0	NEUROG2	113655455	0.958000	0.32768	0.994000	0.49952	0.876000	0.50452	0.820000	0.27323	2.097000	0.63578	0.655000	0.94253	TCG	NEUROG2	-	NULL		0.721	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG2	HGNC	protein_coding	OTTHUMT00000256414.1	G	NM_024019		113436006	-1	no_errors	ENST00000313341	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NFAT5	10725	genome.wustl.edu	37	16	69681236	69681236	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:69681236G>C	ENST00000354436.2	+	3	823	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	NFAT5_ENST00000393742.2_Missense_Mutation_p.E93Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.E187Q|NFAT5_ENST00000566899.1_Missense_Mutation_p.E93Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.E187Q|NFAT5_ENST00000349945.1_Missense_Mutation_p.E93Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	169					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGGAATCTGAGCAGAGCTG	0.507																																																	0													123.0	107.0	112.0					16																	69681236		2198	4300	6498	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.505G>C	16.37:g.69681236G>C	ENSP00000346420:p.Glu169Gln		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E187Q	ENST00000354436.2	37	c.559	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732756	0.69189	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.994	T	0.34428	-0.9829	10	0.66056	D	0.02	-2.6037	19.0353	0.92974	0.0:0.0:1.0:0.0	.	187;169;187	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	Q	187;187;93;169;93	ENSP00000396538:E187Q;ENSP00000338806:E93Q;ENSP00000346420:E169Q;ENSP00000377343:E93Q	ENSP00000338806:E93Q	E	+	1	0	NFAT5	68238737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.480000	0.83734	0.650000	0.86243	GAG	NFAT5	-	NULL		0.507	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	G	NM_138714		69681236	+1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	C
NFATC1	4772	genome.wustl.edu	37	18	77170535	77170535	+	Missense_Mutation	SNP	C	C	T	rs372492742		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:77170535C>T	ENST00000427363.2	+	2	260	c.260C>T	c.(259-261)tCg>tTg	p.S87L	NFATC1_ENST00000318065.5_Missense_Mutation_p.S74L|NFATC1_ENST00000253506.5_Missense_Mutation_p.S87L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S74L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.S74L|NFATC1_ENST00000586434.1_Missense_Mutation_p.S74L|NFATC1_ENST00000587635.1_Missense_Mutation_p.S87L|NFATC1_ENST00000542384.1_Missense_Mutation_p.S87L|NFATC1_ENST00000591814.1_Missense_Mutation_p.S87L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	87					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GATCACCCCTCGGGGTACGGA	0.721																																					GBM(151;1210 2593 28719 45011)												0								C	LEU/SER,LEU/SER,,LEU/SER,LEU/SER	0,4406		0,0,2203	42.0	45.0	44.0		260,221,,221,260	0.6	0.0	18		44	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	145,145,,145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,,benign,benign	87/826,74/931,,74/813,87/717	77170535	1,13003	2203	4299	6502	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.260C>T	18.37:g.77170535C>T	ENSP00000389377:p.Ser87Leu		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S87L	ENST00000427363.2	37	c.260		18	.	.	.	.	.	.	.	.	.	.	C	9.713	1.157706	0.21454	0.0	1.16E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.42513	0.97;0.97;0.97	4.39	0.607	0.17564	.	1.330090	0.05153	N	0.496456	T	0.29684	0.0741	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.13145	0.007;0.003;0.003;0.003;0.003;0.007;0.003	B;B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.002;0.002;0.002;0.001	T	0.28396	-1.0045	10	0.46703	T	0.11	-1.0201	8.6172	0.33840	0.0:0.6834:0.0:0.3166	.	74;74;87;87;87;74;87	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	87;87;87;74;74;51	ENSP00000253506:S87L;ENSP00000442435:S87L;ENSP00000327850:S74L	ENSP00000253506:S87L	S	+	2	0	NFATC1	75271523	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.430000	0.34914	-0.080000	0.12685	-0.258000	0.10820	TCG	NFATC1	-	NULL		0.721	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	C	NM_172390		77170535	+1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	0.008	T
NFATC1	4772	genome.wustl.edu	37	18	77208811	77208811	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:77208811G>A	ENST00000427363.2	+	4	1416	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	NFATC1_ENST00000318065.5_Silent_p.L459L|NFATC1_ENST00000253506.5_Silent_p.L472L|NFATC1_ENST00000329101.4_Silent_p.L459L|NFATC1_ENST00000545796.1_De_novo_Start_InFrame|NFATC1_ENST00000397790.2_De_novo_Start_InFrame|NFATC1_ENST00000592223.1_Silent_p.L459L|NFATC1_ENST00000586434.1_Silent_p.L459L|NFATC1_ENST00000587635.1_Silent_p.L472L|NFATC1_ENST00000542384.1_Silent_p.L472L|NFATC1_ENST00000591814.1_Silent_p.L472L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	472	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	ATGAGCCGCTGATGCTGCAGC	0.622																																					GBM(151;1210 2593 28719 45011)												0													75.0	75.0	75.0					18																	77208811		2203	4300	6503	SO:0001819	synonymous_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1416G>A	18.37:g.77208811G>A			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.L472	ENST00000427363.2	37	c.1416		18																																																																																			NFATC1	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.622	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	G	NM_172390		77208811	+1	no_errors	ENST00000427363	ensembl	human	known	70_37	silent	SNP	0.995	A
NFATC2	4773	genome.wustl.edu	37	20	50133469	50133469	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:50133469G>C	ENST00000396009.3	-	3	1405	c.1186C>G	c.(1186-1188)Cca>Gca	p.P396A	NFATC2_ENST00000609507.1_Missense_Mutation_p.P177A|NFATC2_ENST00000610033.1_Missense_Mutation_p.P177A|NFATC2_ENST00000609943.1_Missense_Mutation_p.P376A|NFATC2_ENST00000414705.1_Missense_Mutation_p.P376A|NFATC2_ENST00000371564.3_Missense_Mutation_p.P396A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	396	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CACTCAAGTGGAGGGAGGGAT	0.502																																																	0													42.0	39.0	40.0					20																	50133469		2203	4300	6503	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1186C>G	20.37:g.50133469G>C	ENSP00000379330:p.Pro396Ala		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P396A	ENST00000396009.3	37	c.1186	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	6.300	0.423465	0.11928	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.18502	2.21;2.21;2.24	5.18	5.18	0.71444	Rel homology (1);	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	L	0.28344	0.845	0.58432	D	0.999992	B;D;B;B	0.76494	0.319;0.999;0.319;0.319	B;D;B;B	0.72982	0.053;0.979;0.053;0.043	T	0.04216	-1.0968	10	0.13853	T	0.58	-8.2745	18.723	0.91703	0.0:0.0:1.0:0.0	.	376;376;396;396	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	A	396;396;177;376	ENSP00000360619:P396A;ENSP00000379330:P396A;ENSP00000396471:P376A	ENSP00000360619:P396A	P	-	1	0	NFATC2	49566876	1.000000	0.71417	0.874000	0.34290	0.232000	0.25224	3.460000	0.53028	2.420000	0.82092	0.603000	0.83216	CCA	NFATC2	-	pfscan_RHD		0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	G	NM_012340		50133469	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	missense	SNP	0.998	C
NFATC3	4775	genome.wustl.edu	37	16	68224764	68224764	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:68224764C>G	ENST00000346183.3	+	9	2216	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	NFATC3_ENST00000575270.1_Missense_Mutation_p.S731C|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S731C|NFATC3_ENST00000349223.5_Missense_Mutation_p.S731C|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	731					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGGCCTTCCTCTGATTCAGGG	0.458																																																	0													100.0	87.0	92.0					16																	68224764		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2192C>G	16.37:g.68224764C>G	ENSP00000300659:p.Ser731Cys		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S731C	ENST00000346183.3	37	c.2192	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763353	0.49574	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.09445	2.99;2.99;2.98	5.55	5.55	0.83447	.	0.551757	0.20254	N	0.096005	T	0.19644	0.0472	L	0.47716	1.5	0.45962	D	0.998782	P;P;P;P	0.51791	0.948;0.947;0.948;0.948	B;P;B;B	0.52758	0.41;0.708;0.41;0.41	T	0.00179	-1.1950	10	0.40728	T	0.16	-5.7236	15.0406	0.71788	0.0:0.8583:0.1416:0.0	.	731;731;731;731	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	C	731;731;731;252	ENSP00000264008:S731C;ENSP00000300659:S731C;ENSP00000331324:S731C	ENSP00000331324:S731C	S	+	2	0	NFATC3	66782265	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	4.274000	0.58921	2.617000	0.88574	0.557000	0.71058	TCT	NFATC3	-	NULL		0.458	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68224764	+1	no_errors	ENST00000346183	ensembl	human	known	70_37	missense	SNP	1.000	G
NHS	4810	genome.wustl.edu	37	X	17744529	17744529	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:17744529C>T	ENST00000380060.3	+	6	2578	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	NHS_ENST00000398097.3_Missense_Mutation_p.S591L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	768					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGTCTCCATCAGACAAAGCG	0.493																																																	0													94.0	90.0	91.0					X																	17744529		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2240C>T	X.37:g.17744529C>T	ENSP00000369400:p.Ser747Leu		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.S747L	ENST00000380060.3	37	c.2240	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067042	0.76301	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.55234	0.53;0.62	6.03	6.03	0.97812	.	0.106561	0.64402	D	0.000003	T	0.76097	0.3940	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.986;0.986;0.986;1.0	P;P;P;D	0.83275	0.88;0.88;0.88;0.996	T	0.78181	-0.2304	10	0.72032	D	0.01	-10.8688	19.4774	0.94994	0.0:1.0:0.0:0.0	.	768;589;591;747	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	747;591;589	ENSP00000369400:S747L;ENSP00000381170:S591L	ENSP00000369397:S589L	S	+	2	0	NHS	17654450	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	7.818000	0.86416	2.554000	0.86153	0.600000	0.82982	TCA	NHS	-	NULL		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744529	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.997	T
NID2	22795	genome.wustl.edu	37	14	52534754	52534754	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:52534754C>T	ENST00000216286.5	-	2	355	c.356G>A	c.(355-357)aGa>aAa	p.R119K	NID2_ENST00000541773.1_Missense_Mutation_p.R66K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	119	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GACTCGGCCTCTGCCGTGGCT	0.662																																																	0													27.0	33.0	31.0					14																	52534754		2203	4300	6503	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.356G>A	14.37:g.52534754C>T	ENSP00000216286:p.Arg119Lys		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R119K	ENST00000216286.5	37	c.356	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074571	0.36566	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.21932	1.98;1.98	5.58	5.58	0.84498	Nidogen, extracellular domain (2);	0.088407	0.85682	D	0.000000	T	0.15392	0.0371	L	0.39633	1.23	0.25035	N	0.991245	B;B;B	0.26081	0.141;0.013;0.003	B;B;B	0.22753	0.041;0.007;0.003	T	0.21586	-1.0241	10	0.12103	T	0.63	.	10.0966	0.42480	0.0:0.8514:0.0:0.1486	.	66;121;119	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	K	119;119;66;121	ENSP00000216286:R119K;ENSP00000443730:R66K	ENSP00000216286:R119K	R	-	2	0	NID2	51604504	0.577000	0.26708	0.999000	0.59377	0.985000	0.73830	2.023000	0.41040	2.626000	0.88956	0.563000	0.77884	AGA	NID2	-	smart_Nidogen_extracell_dom		0.662	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	C			52534754	-1	no_errors	ENST00000216286	ensembl	human	known	70_37	missense	SNP	1.000	T
NKAP	79576	genome.wustl.edu	37	X	119064010	119064010	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:119064010C>G	ENST00000371410.3	-	8	1208	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	348	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CCTGAGCATTCAAATGATGCA	0.383																																																	0													177.0	155.0	163.0					X																	119064010		2203	4300	6503	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1042G>C	X.37:g.119064010C>G	ENSP00000360464:p.Glu348Gln		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.E348Q	ENST00000371410.3	37	c.1042	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400795	0.83120	.	.	ENSG00000101882	ENST00000371410	T	0.56275	0.47	5.29	4.43	0.53597	.	0.045709	0.85682	D	0.000000	T	0.77398	0.4124	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82398	-0.0477	10	0.87932	D	0	-21.9479	12.2289	0.54476	0.0:0.9171:0.0:0.0829	.	348	Q8N5F7	NKAP_HUMAN	Q	348	ENSP00000360464:E348Q	ENSP00000360464:E348Q	E	-	1	0	NKAP	118948038	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.599000	0.82757	1.237000	0.43756	0.529000	0.55759	GAA	NKAP	-	pfam_DUF926		0.383	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	C	NM_024528		119064010	-1	no_errors	ENST00000371410	ensembl	human	known	70_37	missense	SNP	1.000	G
NKTR	4820	genome.wustl.edu	37	3	42674112	42674112	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:42674112G>C	ENST00000232978.8	+	9	758	c.570G>C	c.(568-570)aaG>aaC	p.K190N	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	190					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAAAAAGGAAGAAACCAACTC	0.338																																																	0													43.0	46.0	45.0					3																	42674112		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.570G>C	3.37:g.42674112G>C	ENSP00000232978:p.Lys190Asn			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K190N	ENST00000232978.8	37	c.570	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132924	0.56828	.	.	ENSG00000114857	ENST00000232978	T	0.15139	2.45	5.83	5.83	0.93111	.	0.105674	0.64402	D	0.000004	T	0.36524	0.0970	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.64144	0.617;0.922	T	0.08046	-1.0741	10	0.72032	D	0.01	-19.3364	10.1948	0.43047	0.1519:0.0:0.8481:0.0	.	70;190	Q59EC3;P30414	.;NKTR_HUMAN	N	190	ENSP00000232978:K190N	ENSP00000232978:K190N	K	+	3	2	NKTR	42649116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.043000	0.57354	2.754000	0.94517	0.655000	0.94253	AAG	NKTR	-	NULL		0.338	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42674112	+1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	C
NLGN3	54413	genome.wustl.edu	37	X	70387001	70387001	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:70387001C>G	ENST00000358741.3	+	7	1357	c.1054C>G	c.(1054-1056)Ctt>Gtt	p.L352V	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.L312V|NLGN3_ENST00000374051.3_Missense_Mutation_p.L332V	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	352					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGTGGACTGTCTTCGGCAAAA	0.557																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													138.0	100.0	113.0					X																	70387001		2203	4300	6503	SO:0001583	missense	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1054C>G	X.37:g.70387001C>G	ENSP00000351591:p.Leu352Val		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L352V	ENST00000358741.3	37	c.1054	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843059	0.71488	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	H	0.95328	3.655	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.993	D;D;P	0.71414	0.928;0.973;0.888	D	0.94103	0.7364	10	0.87932	D	0	.	17.8251	0.88662	0.0:1.0:0.0:0.0	.	312;352;332	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	V	312;215;332;312;352	ENSP00000445298:L312V;ENSP00000363163:L332V;ENSP00000379196:L312V;ENSP00000351591:L352V	ENSP00000351591:L352V	L	+	1	0	NLGN3	70303726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.796000	0.69080	2.398000	0.81561	0.431000	0.28591	CTT	NLGN3	-	pfam_CarbesteraseB		0.557	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	C	NM_018977		70387001	+1	no_errors	ENST00000358741	ensembl	human	known	70_37	missense	SNP	1.000	G
NLRP13	126204	genome.wustl.edu	37	19	56424379	56424379	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56424379G>A	ENST00000342929.3	-	5	803	c.804C>T	c.(802-804)ctC>ctT	p.L268L	NLRP13_ENST00000588751.1_Silent_p.L268L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	268	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TATGGCAGCTGAGATAGAAAA	0.463																																																	0													61.0	65.0	64.0					19																	56424379		2203	4300	6503	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.804C>T	19.37:g.56424379G>A			Q7RTR5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L268	ENST00000342929.3	37	c.804	CCDS33119.1	19																																																																																			NLRP13	-	pfscan_NACHT_NTPase		0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	G	NM_176810		56424379	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	silent	SNP	0.523	A
NOL10	79954	genome.wustl.edu	37	2	10729233	10729233	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:10729233C>G	ENST00000381685.5	-	19	1885	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	NOL10_ENST00000542668.1_Missense_Mutation_p.E544Q|NOL10_ENST00000538384.1_Missense_Mutation_p.E568Q|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000345985.3_Missense_Mutation_p.E544Q	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	594						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GCTTTGATCTCATAAAACTGG	0.488																																																	0													159.0	167.0	164.0					2																	10729233		2203	4300	6503	SO:0001583	missense	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1780G>C	2.37:g.10729233C>G	ENSP00000371101:p.Glu594Gln		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E594Q	ENST00000381685.5	37	c.1780	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391448	0.42410	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.46451	0.87;2.19;1.48;2.19	5.35	5.35	0.76521	.	0.190285	0.56097	N	0.000028	T	0.33527	0.0866	L	0.27053	0.805	0.47737	D	0.9995	B;B;B	0.29766	0.256;0.256;0.06	B;B;B	0.24155	0.051;0.051;0.028	T	0.08534	-1.0717	10	0.41790	T	0.15	-27.0834	19.4318	0.94772	0.0:1.0:0.0:0.0	.	568;594;544	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	Q	544;594;544;568	ENSP00000263837:E544Q;ENSP00000371101:E594Q;ENSP00000437625:E544Q;ENSP00000439663:E568Q	ENSP00000263837:E544Q	E	-	1	0	NOL10	10646684	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.505000	0.60421	2.668000	0.90789	0.591000	0.81541	GAG	NOL10	-	NULL		0.488	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	C	NM_024894		10729233	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	missense	SNP	1.000	G
NOP56	10528	genome.wustl.edu	37	20	2634826	2634826	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:2634826G>C	ENST00000329276.5	+	4	724				SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TATCAGACCTGAATGCAGTTG	0.453																																																	0													155.0	144.0	148.0					20																	2634826		876	1991	2867	SO:0001627	intron_variant	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.209-234G>C	20.37:g.2634826G>C			Q2M3T6|Q9NQ05	RNA	SNP	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			NOP56	-	-		0.453	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	G	NM_006392		2634826	+1	no_errors	ENST00000494697	ensembl	human	known	70_37	rna	SNP	0.001	C
NOS1	4842	genome.wustl.edu	37	12	117749369	117749369	+	Missense_Mutation	SNP	G	G	C	rs375810209		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:117749369G>C	ENST00000338101.4	-	2	758	c.754C>G	c.(754-756)Ctg>Gtg	p.L252V	NOS1_ENST00000344089.3_Missense_Mutation_p.L252V|NOS1_ENST00000317775.6_Missense_Mutation_p.L252V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L252V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCGAGGGGCAGAGGTTTGTGT	0.552																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											75.0	78.0	77.0					12																	117749369		1992	4166	6158	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.754C>G	12.37:g.117749369G>C	ENSP00000337459:p.Leu252Val			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L252V	ENST00000338101.4	37	c.754	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169764	0.57584	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.06687	4.94;3.27;4.96	5.65	4.71	0.59529	.	0.380726	0.25009	N	0.033846	T	0.07728	0.0194	L	0.44542	1.39	0.22933	N	0.998543	B	0.15930	0.015	B	0.18263	0.021	T	0.32824	-0.9892	10	0.12766	T	0.61	-7.2403	11.057	0.47925	0.0:0.0:0.8151:0.1849	.	252	P29475	NOS1_HUMAN	V	252	ENSP00000320758:L252V;ENSP00000339862:L252V;ENSP00000337459:L252V	ENSP00000320758:L252V	L	-	1	2	NOS1	116233752	0.951000	0.32395	0.961000	0.40146	0.840000	0.47671	1.660000	0.37397	2.657000	0.90304	0.561000	0.74099	CTG	NOS1	-	pirsf_NOS_met		0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	G			117749369	-1	no_errors	ENST00000317775	ensembl	human	known	70_37	missense	SNP	0.987	C
NOS2	4843	genome.wustl.edu	37	17	26087701	26087701	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:26087701G>A	ENST00000313735.6	-	24	3191	c.2958C>T	c.(2956-2958)atC>atT	p.I986I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	986					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGAAGGGCGCGATGCCTGTGC	0.662											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25.0	22.0	23.0					17																	26087701		2157	4196	6353	SO:0001819	synonymous_variant	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2958C>T	17.37:g.26087701G>A		784	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.I986	ENST00000313735.6	37	c.2958	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	2.583	-0.297031	0.05532	.	.	ENSG00000007171	ENST00000302153	.	.	.	4.63	-4.65	0.03339	.	.	.	.	.	T	0.56877	0.2015	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62129	-0.6919	5	0.54805	T	0.06	.	7.9008	0.29734	0.6809:0.0:0.1936:0.1255	.	.	.	.	L	706	.	ENSP00000305638:S706L	S	-	2	0	NOS2	23111828	0.001000	0.12720	0.974000	0.42286	0.168000	0.22595	-1.351000	0.02622	-0.517000	0.06461	-0.463000	0.05309	TCG	NOS2	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase		0.662	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26087701	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	silent	SNP	0.900	A
NOTCH2	4853	genome.wustl.edu	37	1	120468178	120468178	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:120468178G>A	ENST00000256646.2	-	25	4480	c.4261C>T	c.(4261-4263)Cct>Tct	p.P1421S	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1421					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCAGGAGGGGTGCTGGGG	0.627			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													51.0	56.0	54.0					1																	120468178		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4261C>T	1.37:g.120468178G>A	ENSP00000256646:p.Pro1421Ser		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P1421S	ENST00000256646.2	37	c.4261	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528016	0.27299	.	.	ENSG00000134250	ENST00000256646	D	0.81996	-1.56	5.72	5.72	0.89469	Notch domain (2);	0.000000	0.37530	U	0.002041	T	0.48822	0.1521	N	0.08118	0	0.09310	N	0.999999	B	0.20164	0.042	B	0.26202	0.067	T	0.17715	-1.0360	10	0.09590	T	0.72	.	13.2997	0.60317	0.0:0.1705:0.8295:0.0	.	1421	Q04721	NOTC2_HUMAN	S	1421	ENSP00000256646:P1421S	ENSP00000256646:P1421S	P	-	1	0	NOTCH2	120269701	0.929000	0.31497	0.964000	0.40570	0.849000	0.48306	2.954000	0.49113	2.706000	0.92434	0.561000	0.74099	CCT	NOTCH2	-	pirsf_Notch,smart_Notch_dom		0.627	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120468178	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.165	A
NOTCH2	4853	genome.wustl.edu	37	1	120468354	120468354	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:120468354G>C	ENST00000256646.2	-	25	4304	c.4085C>G	c.(4084-4086)tCt>tGt	p.S1362C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1362					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGGTCCAGAGGCGGTGTG	0.637			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													27.0	24.0	25.0					1																	120468354		2202	4296	6498	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4085C>G	1.37:g.120468354G>C	ENSP00000256646:p.Ser1362Cys		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S1362C	ENST00000256646.2	37	c.4085	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246526	0.39697	.	.	ENSG00000134250	ENST00000256646	D	0.82526	-1.62	5.94	4.85	0.62838	.	0.662303	0.11774	U	0.530821	T	0.79701	0.4491	M	0.84683	2.71	0.09310	N	1	B	0.26876	0.162	B	0.32980	0.156	T	0.73585	-0.3936	10	0.54805	T	0.06	.	11.4455	0.50120	0.1505:0.0:0.8495:0.0	.	1362	Q04721	NOTC2_HUMAN	C	1362	ENSP00000256646:S1362C	ENSP00000256646:S1362C	S	-	2	0	NOTCH2	120269877	0.973000	0.33851	0.794000	0.32065	0.891000	0.51852	1.917000	0.39996	2.816000	0.96949	0.561000	0.74099	TCT	NOTCH2	-	pirsf_Notch,smart_EG-like_dom		0.637	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120468354	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.005	C
NOTCH3	4854	genome.wustl.edu	37	19	15291882	15291882	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:15291882C>T	ENST00000263388.2	-	18	2959	c.2884G>A	c.(2884-2886)Gag>Aag	p.E962K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	962	EGF-like 25. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGTCTGCCTCATGTTGGCAG	0.692																																																	0													18.0	21.0	20.0					19																	15291882		2201	4299	6500	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2884G>A	19.37:g.15291882C>T	ENSP00000263388:p.Glu962Lys		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.E962K	ENST00000263388.2	37	c.2884	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311172	0.40895	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87334	-2.24	5.36	1.61	0.23674	Epidermal growth factor-like, type 3 (1);	0.265359	0.19996	N	0.101447	T	0.82006	0.4943	L	0.54323	1.7	0.42249	D	0.991962	B;B	0.13594	0.008;0.005	B;B	0.20577	0.006;0.03	T	0.73867	-0.3847	10	0.27785	T	0.31	.	10.0275	0.42081	0.0:0.6487:0.2754:0.0759	.	913;962	Q59FL3;Q9UM47	.;NOTC3_HUMAN	K	962;912	ENSP00000263388:E962K	ENSP00000263388:E962K	E	-	1	0	NOTCH3	15152882	0.095000	0.21747	0.018000	0.16275	0.465000	0.32709	1.157000	0.31724	0.571000	0.29365	0.491000	0.48974	GAG	NOTCH3	-	smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.692	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435		15291882	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	missense	SNP	0.613	T
NPIPB3	23117	genome.wustl.edu	37	16	21416078	21416078	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:21416078G>A	ENST00000448012.2	-	8	1104	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	NPIPB3_ENST00000458643.2_Silent_p.L210L|NPIPB3_ENST00000542817.1_Silent_p.L177L	NM_130464.2	NP_569731.2	Q92617	NPIB3_HUMAN	nuclear pore complex interacting protein family, member B3	519	Pro-rich.					integral component of membrane (GO:0016021)											GAAGGGGAGTGAGCTGACGCT	0.572																																																	0													1.0	1.0	1.0					16																	21416078		222	487	709	SO:0001819	synonymous_variant	23117					16p12.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000169246	ENSG00000169246			28989	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 3"""	NPIPL3		11948212	Standard	NM_130464		Approved	KIAA0220	uc021tei.1	Q92617	OTTHUMG00000163506	ENST00000448012.2:c.1065C>T	16.37:g.21416078G>A			O43332|Q504Q6|Q59F29|Q6GMR1|Q6P7T2|Q6PIE2|Q6RH21	Silent	SNP	pfam_NPIP	p.L271	ENST00000448012.2	37	c.813		16																																																																																			NPIPL3	-	pfam_NPIP		0.572	NPIPB3-201	KNOWN	basic|appris_principal	protein_coding	NPIPL3	HGNC	protein_coding		G	NM_130464		21416078	-1	no_errors	ENST00000447737	ensembl	human	known	70_37	silent	SNP	0.027	A
NPSR1	387129	genome.wustl.edu	37	7	34800762	34800762	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:34800762G>A	ENST00000360581.1	+	3	408				NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381553.3_Intron|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	agcggatgctgaaacagagtc	0.488																																																	0																																										SO:0001627	intron_variant	404744			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.281-17312G>A	7.37:g.34800762G>A			A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	RNA	SNP	-	NULL	ENST00000360581.1	37	NULL	CCDS5444.1	7																																																																																			NPSR1-AS1	-	-		0.488	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPSR1-AS1	HGNC	protein_coding	OTTHUMT00000216837.1	G	NM_207173		34800762	-1	no_errors	ENST00000419766	ensembl	human	known	70_37	rna	SNP	0.000	A
NPY6R	4888	genome.wustl.edu	37	5	137144191	137144191	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:137144191C>T	ENST00000510937.1	+	0	739					NR_002713.3		Q99463	NPY6R_HUMAN	neuropeptide Y receptor Y6 (pseudogene)							integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)										CATCTACACTCTGATGGACCA	0.438																																																	0																																												4888			D86519		5q31.2	2013-03-26			ENSG00000226306	ENSG00000226306		"""GPCR / Class A : Neuropeptide receptors : Y"""	7959	pseudogene	pseudogene		601770				8910373, 8910290	Standard	NR_002713		Approved	PP2, NPY1RL, NPY6RP	uc011cyf.2	Q99463	OTTHUMG00000163236		5.37:g.137144191C>T			D3DQB4	RNA	SNP	-	NULL	ENST00000510937.1	37	NULL		5																																																																																			NPY6R	-	-		0.438	NPY6R-003	KNOWN	basic	processed_transcript	NPY6R	HGNC	pseudogene	OTTHUMT00000373630.1	C			137144191	+1	no_errors	ENST00000510937	ensembl	human	known	70_37	rna	SNP	0.427	T
NRAP	4892	genome.wustl.edu	37	10	115364418	115364418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:115364418C>A	ENST00000359988.3	-	35	4421	c.4177G>T	c.(4177-4179)Gag>Tag	p.E1393*	NRAP_ENST00000360478.3_Nonsense_Mutation_p.E1358*|NRAP_ENST00000369358.4_Nonsense_Mutation_p.E1401*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.E1366*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCAGGTCCTCGGGCAGTGCT	0.592																																																	0													111.0	103.0	106.0					10																	115364418		2203	4300	6503	SO:0001587	stop_gained	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4177G>T	10.37:g.115364418C>A	ENSP00000353078:p.Glu1393*			Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.E1401*	ENST00000359988.3	37	c.4201	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	40	8.493536	0.98836	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.54	4.64	0.57946	.	0.101966	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.0234	0.42057	0.0:0.7901:0.1374:0.0724	.	.	.	.	X	1401;1366;1393;1358;551	.	ENSP00000353078:E1393X	E	-	1	0	NRAP	115354408	1.000000	0.71417	0.866000	0.34008	0.083000	0.17756	4.891000	0.63185	1.359000	0.45940	-0.266000	0.10368	GAG	NRAP	-	smart_Nebulin_35r-motif		0.592	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	C	NM_006175		115364418	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	nonsense	SNP	0.996	A
NRAP	4892	genome.wustl.edu	37	10	115401164	115401164	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:115401164C>T	ENST00000359988.3	-	13	1527	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	NRAP_ENST00000360478.3_Missense_Mutation_p.R393H|NRAP_ENST00000369358.4_Missense_Mutation_p.R428H|NRAP_ENST00000369360.3_Missense_Mutation_p.R393H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGCAGAGTGCGTCTGTCCAT	0.468																																																	0													180.0	155.0	164.0					10																	115401164		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1283G>A	10.37:g.115401164C>T	ENSP00000353078:p.Arg428His			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.R428H	ENST00000359988.3	37	c.1283	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605596	0.87157	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.35048	1.33;2.51;1.33;2.33	5.34	5.34	0.76211	.	0.105848	0.64402	D	0.000006	T	0.52092	0.1713	L	0.46157	1.445	0.43069	D	0.994703	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68621	0.959;0.959;0.933	T	0.36138	-0.9760	10	0.18710	T	0.47	.	19.0347	0.92972	0.0:1.0:0.0:0.0	.	428;393;428	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	428;393;428;393;157;157	ENSP00000358365:R428H;ENSP00000358367:R393H;ENSP00000353078:R428H;ENSP00000353666:R393H	ENSP00000353078:R428H	R	-	2	0	NRAP	115391154	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	3.050000	0.49877	2.514000	0.84764	0.561000	0.74099	CGC	NRAP	-	smart_Nebulin_35r-motif		0.468	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	C	NM_006175		115401164	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	1.000	T
NRK	203447	genome.wustl.edu	37	X	105168739	105168739	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:105168739C>T	ENST00000243300.9	+	19	3331	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	NRK_ENST00000428173.2_Missense_Mutation_p.R1011C	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1010					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGATGGAAGTCGTGGAAAAGA	0.468										HNSCC(51;0.14)			C|||	1	0.000264901	0.0008	0.0	3775	,	,		14598	0.0		0.0	False		,,,				2504	0.0																0													55.0	53.0	54.0					X																	105168739		2036	4176	6212	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3028C>T	X.37:g.105168739C>T	ENSP00000434830:p.Arg1010Cys		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R1011C	ENST00000243300.9	37	c.3031		X	.	.	.	.	.	.	.	.	.	.	C	7.367	0.626078	0.14257	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77358	-1.08;-1.09	2.86	0.0374	0.14196	.	0.865966	0.09578	N	0.783278	T	0.51753	0.1693	N	0.08118	0	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.12156	0.007;0.003	T	0.39210	-0.9625	10	0.49607	T	0.09	.	3.0662	0.06215	0.2989:0.2369:0.4643:0.0	.	678;1010	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	C	1010;1011	ENSP00000434830:R1010C;ENSP00000438378:R1011C	ENSP00000434830:R1010C	R	+	1	0	NRK	105055395	0.109000	0.22037	0.001000	0.08648	0.025000	0.11179	-0.007000	0.12810	-0.097000	0.12307	-0.884000	0.02946	CGT	NRK	-	NULL		0.468	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	C	NM_198465		105168739	+1	no_errors	ENST00000428173	ensembl	human	known	70_37	missense	SNP	0.001	T
NSUN2	54888	genome.wustl.edu	37	5	6632788	6632788	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:6632788C>T	ENST00000264670.6	-	2	489	c.178G>A	c.(178-180)Gag>Aag	p.E60K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E60K|SRD5A1_ENST00000538824.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR|SRD5A1_ENST00000537411.1_5'Flank|SRD5A1_ENST00000274192.5_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	60					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTCGCCCTCGGGCACGATC	0.562																																																	0													83.0	89.0	87.0					5																	6632788		2203	4300	6503	SO:0001583	missense	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.178G>A	5.37:g.6632788C>T	ENSP00000264670:p.Glu60Lys		A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1	p.E60K	ENST00000264670.6	37	c.178	CCDS3869.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120375	0.77323	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.39056	1.1;1.11	4.81	3.94	0.45596	.	0.117980	0.56097	D	0.000034	T	0.34978	0.0916	M	0.67397	2.05	0.80722	D	1	P;B	0.36010	0.532;0.448	B;B	0.28553	0.053;0.091	T	0.14643	-1.0465	10	0.36615	T	0.2	-38.3956	8.3807	0.32470	0.0:0.7554:0.1569:0.0877	.	60;60	B4DQW2;Q08J23	.;NSUN2_HUMAN	K	60	ENSP00000264670:E60K;ENSP00000420957:E60K	ENSP00000264670:E60K	E	-	1	0	NSUN2	6685788	0.998000	0.40836	0.968000	0.41197	0.980000	0.70556	4.194000	0.58393	1.026000	0.39733	0.655000	0.94253	GAG	NSUN2	-	NULL		0.562	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NSUN2	HGNC	protein_coding	OTTHUMT00000206902.1	C	NM_017755		6632788	-1	no_errors	ENST00000264670	ensembl	human	known	70_37	missense	SNP	0.974	T
NUGGC	389643	genome.wustl.edu	37	8	27918098	27918098	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:27918098C>G	ENST00000413272.2	-	8	1084	c.942G>C	c.(940-942)gtG>gtC	p.V314V	NUGGC_ENST00000341513.6_Silent_p.V314V	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	314					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCACCCAGATCACTGAGCACT	0.537											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53.0	54.0	53.0					8																	27918098		2048	4201	6249	SO:0001819	synonymous_variant	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.942G>C	8.37:g.27918098C>G		99	Q6ZP73	Silent	SNP	pfam_Dynamin_GTPase	p.V314	ENST00000413272.2	37	c.942	CCDS47833.1	8																																																																																			NUGGC	-	pfam_Dynamin_GTPase		0.537	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27918098	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	silent	SNP	0.736	G
NUP205	23165	genome.wustl.edu	37	7	135300800	135300800	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:135300800G>A	ENST00000285968.6	+	24	3473	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1149					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACATGCCAGTGAAACCATACT	0.433																																																	0													154.0	139.0	144.0					7																	135300800		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3447G>A	7.37:g.135300800G>A			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.V1149	ENST00000285968.6	37	c.3447	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414		0.433	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135300800	+1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	1.000	A
OCIAD1	54940	genome.wustl.edu	37	4	48859304	48859304	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:48859304G>C	ENST00000381473.3	+	8	1040	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	OCIAD1_ENST00000508293.1_Missense_Mutation_p.E208Q|OCIAD1_ENST00000509122.1_Missense_Mutation_p.E181Q|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000513391.2_Missense_Mutation_p.E208Q|OCIAD1_ENST00000264312.7_Missense_Mutation_p.E208Q|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000444354.2_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	208						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TAAGAACAGAGAGTCATATGA	0.343																																																	0													62.0	66.0	65.0					4																	48859304		2203	4297	6500	SO:0001583	missense	54940			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.622G>C	4.37:g.48859304G>C	ENSP00000370882:p.Glu208Gln		C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	pfam_OCIA	p.E208Q	ENST00000381473.3	37	c.622	CCDS3484.1	4	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017855	0.54576	.	.	ENSG00000109180	ENST00000509122;ENST00000264312;ENST00000381473;ENST00000503016;ENST00000508293;ENST00000513391	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.96	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.56769	1.78	0.80722	D	1	B;P	0.35507	0.379;0.506	B;B	0.26864	0.07;0.074	T	0.41538	-0.9503	9	.	.	.	-8.24	14.4251	0.67210	0.0:0.1475:0.8525:0.0	.	181;208	D6RBN5;Q9NX40	.;OCAD1_HUMAN	Q	181;208;208;154;208;208	ENSP00000264312:E208Q;ENSP00000370882:E208Q;ENSP00000423002:E208Q;ENSP00000423909:E208Q	.	E	+	1	0	OCIAD1	48554061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.081000	0.64444	1.511000	0.48818	0.655000	0.94253	GAG	OCIAD1	-	NULL		0.343	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	G	NM_017830		48859304	+1	no_errors	ENST00000264312	ensembl	human	known	70_37	missense	SNP	1.000	C
OFD1	8481	genome.wustl.edu	37	X	13779245	13779245	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:13779245G>C	ENST00000340096.6	+	17	2629	c.2302G>C	c.(2302-2304)Gac>Cac	p.D768H	OFD1_ENST00000380550.3_Missense_Mutation_p.D728H|OFD1_ENST00000380567.1_Missense_Mutation_p.D628H|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	768	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTTGTCCTGACAGAATGCC	0.522																																																	0													153.0	111.0	126.0					X																	13779245		2203	4300	6503	SO:0001583	missense	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2302G>C	X.37:g.13779245G>C	ENSP00000344314:p.Asp768His		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D768H	ENST00000340096.6	37	c.2302	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457345	0.63401	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.97256	-4.31;-4.28;-2.14	5.03	4.13	0.48395	.	1.091110	0.06942	N	0.812927	D	0.97904	0.9311	M	0.64997	1.995	0.20489	N	0.999896	D;D;D;D;D	0.89917	1.0;1.0;0.997;0.986;1.0	D;D;D;P;D	0.69479	0.964;0.964;0.925;0.789;0.964	D	0.90750	0.4656	10	0.59425	D	0.04	-5.0167	10.5037	0.44821	0.0:0.1923:0.8077:0.0	.	768;728;436;628;768	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	H	728;768;628	ENSP00000369923:D728H;ENSP00000344314:D768H;ENSP00000369941:D628H	ENSP00000344314:D768H	D	+	1	0	OFD1	13689166	0.157000	0.22836	0.004000	0.12327	0.491000	0.33493	2.243000	0.43115	0.988000	0.38734	0.600000	0.82982	GAC	OFD1	-	NULL		0.522	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	G	NM_003611		13779245	+1	no_errors	ENST00000340096	ensembl	human	known	70_37	missense	SNP	0.008	C
OLFM3	118427	genome.wustl.edu	37	1	102271722	102271722	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:102271722C>T	ENST00000338858.5	-	5	668	c.669G>A	c.(667-669)atG>atA	p.M223I	OLFM3_ENST00000370103.4_Missense_Mutation_p.M203I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	223	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTGTGATTTTCATCAGTTTGC	0.433																																																	0													139.0	126.0	130.0					1																	102271722		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.669G>A	1.37:g.102271722C>T	ENSP00000345192:p.Met223Ile		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.M223I	ENST00000338858.5	37	c.669		1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653258	0.88056	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.88201	-2.35;-2.35	5.17	5.17	0.71159	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	L	0.37507	1.11	0.80722	D	1	B;B	0.34372	0.035;0.451	B;B	0.32624	0.03;0.149	T	0.80207	-0.1478	10	0.37606	T	0.19	.	18.667	0.91493	0.0:1.0:0.0:0.0	.	203;223	Q5T3V6;Q96PB7	.;NOE3_HUMAN	I	74;203;223	ENSP00000359121:M203I;ENSP00000345192:M223I	ENSP00000345192:M223I	M	-	3	0	OLFM3	102044310	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.747000	0.85070	2.423000	0.82170	0.591000	0.81541	ATG	OLFM3	-	pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like		0.433	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	C			102271722	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	T
OR10G3	26533	genome.wustl.edu	37	14	22037976	22037976	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:22037976C>G	ENST00000303532.1	-	1	899	c.900G>C	c.(898-900)ctG>ctC	p.L300L		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCATTCTTTTCAGGGCCAGCT	0.512																																																	0													50.0	52.0	52.0					14																	22037976		2203	4300	6503	SO:0001819	synonymous_variant	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.900G>C	14.37:g.22037976C>G			Q6IET7|Q96R77	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L300	ENST00000303532.1	37	c.900	CCDS32046.1	14																																																																																			OR10G3	-	NULL		0.512	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G3	HGNC	protein_coding	OTTHUMT00000401521.1	C			22037976	-1	no_errors	ENST00000303532	ensembl	human	known	70_37	silent	SNP	0.996	G
OR10X1	128367	genome.wustl.edu	37	1	158549459	158549459	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:158549459G>C	ENST00000368150.1	-	1	230	c.231C>G	c.(229-231)ctC>ctG	p.L77L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CACTAAGGAAGAGATACATAG	0.493																																																	0													124.0	116.0	119.0					1																	158549459		2203	4300	6503	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.231C>G	1.37:g.158549459G>C			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L77	ENST00000368150.1	37	c.231	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549459	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	silent	SNP	0.832	C
OR10X1	128367	genome.wustl.edu	37	1	158549540	158549540	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:158549540G>C	ENST00000368150.1	-	1	149	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAGAAGGTAGAGACAAAAGA	0.448																																																	0													127.0	126.0	126.0					1																	158549540		2203	4300	6503	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.150C>G	1.37:g.158549540G>C			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L50	ENST00000368150.1	37	c.150	CCDS30900.1	1																																																																																			OR10X1	-	prints_GPCR_Rhodpsn		0.448	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549540	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	silent	SNP	0.995	C
OR10X1	128367	genome.wustl.edu	37	1	158549659	158549659	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:158549659G>C	ENST00000368150.1	-	1	30	c.31C>G	c.(31-33)Caa>Gaa	p.Q11E		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTGAAATTTGAAAGAAACAA	0.323																																																	0													93.0	93.0	93.0					1																	158549659		2203	4300	6503	SO:0001583	missense	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.31C>G	1.37:g.158549659G>C	ENSP00000357132:p.Gln11Glu		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q11E	ENST00000368150.1	37	c.31	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	G	7.336	0.619970	0.14193	.	.	ENSG00000186400	ENST00000368150	T	0.00001	9.88	4.72	-0.0264	0.13930	.	3.942700	0.01037	N	0.004250	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14337	-1.0476	10	0.28530	T	0.3	.	5.4533	0.16576	0.3815:0.1399:0.4786:0.0	.	11	Q8NGY0	O10X1_HUMAN	E	11	ENSP00000357132:Q11E	ENSP00000357132:Q11E	Q	-	1	0	OR10X1	156816283	0.000000	0.05858	0.009000	0.14445	0.121000	0.20230	-1.010000	0.03656	0.071000	0.16664	-0.355000	0.07637	CAA	OR10X1	-	NULL		0.323	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549659	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	missense	SNP	0.002	C
OR1D2	4991	genome.wustl.edu	37	17	2995364	2995364	+	Missense_Mutation	SNP	C	C	G	rs377057127		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:2995364C>G	ENST00000331459.1	-	1	926	c.927G>C	c.(925-927)aaG>aaC	p.K309N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	309					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATGTCAGCCTCTTAAAGTGTT	0.458																																																	0													126.0	119.0	122.0					17																	2995364		2203	4300	6503	SO:0001583	missense	4991			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.927G>C	17.37:g.2995364C>G	ENSP00000327585:p.Lys309Asn		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K309N	ENST00000331459.1	37	c.927	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	c	8.428	0.848049	0.17034	.	.	ENSG00000184166	ENST00000331459	T	0.37915	1.17	2.35	2.35	0.29111	.	.	.	.	.	T	0.15912	0.0383	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.17077	-1.0381	9	0.27082	T	0.32	.	8.2678	0.31824	0.0:1.0:0.0:0.0	.	309	P34982	OR1D2_HUMAN	N	309	ENSP00000327585:K309N	ENSP00000327585:K309N	K	-	3	2	OR1D2	2942114	0.000000	0.05858	0.028000	0.17463	0.246000	0.25737	-0.012000	0.12699	1.606000	0.50161	0.543000	0.68304	AAG	OR1D2	-	NULL		0.458	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	HGNC	protein_coding	OTTHUMT00000207207.1	C	NM_002548		2995364	-1	no_errors	ENST00000331459	ensembl	human	known	70_37	missense	SNP	0.005	G
OR1D5	8386	genome.wustl.edu	37	17	2966374	2966374	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:2966374G>A	ENST00000575751.1	-	1	527	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	176					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						CACAGAAGAGGTAGTGGATCT	0.552																																																	0													76.0	81.0	79.0					17																	2966374		2179	4292	6471	SO:0001819	synonymous_variant	8386			AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.528C>T	17.37:g.2966374G>A			Q96RA6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y176	ENST00000575751.1	37	c.528	CCDS58499.1	17																																																																																			OR1D5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.552	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D5	HGNC	protein_coding	OTTHUMT00000438410.2	G	NM_014566		2966374	-1	no_errors	ENST00000575751	ensembl	human	known	70_37	silent	SNP	0.117	A
OR1D2	4991	genome.wustl.edu	37	17	2995386	2995386	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:2995386C>G	ENST00000331459.1	-	1	904	c.905G>C	c.(904-906)aGa>aCa	p.R302T		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	302					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCTAGGAGTCTTCCCAGAGC	0.463																																																	0													132.0	127.0	129.0					17																	2995386		2203	4300	6503	SO:0001583	missense	4991			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.905G>C	17.37:g.2995386C>G	ENSP00000327585:p.Arg302Thr		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R302T	ENST00000331459.1	37	c.905	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	c	9.561	1.118356	0.20877	.	.	ENSG00000184166	ENST00000331459	T	0.40476	1.03	3.21	-1.42	0.08913	.	.	.	.	.	T	0.43211	0.1237	M	0.86740	2.835	0.09310	N	1	P	0.35124	0.485	B	0.34991	0.193	T	0.41928	-0.9481	9	0.51188	T	0.08	.	5.1861	0.15185	0.0:0.3175:0.1581:0.5243	.	302	P34982	OR1D2_HUMAN	T	302	ENSP00000327585:R302T	ENSP00000327585:R302T	R	-	2	0	OR1D2	2942136	0.004000	0.15560	0.577000	0.28562	0.839000	0.47603	-0.029000	0.12329	-0.171000	0.10797	-0.324000	0.08512	AGA	OR1D2	-	NULL		0.463	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	HGNC	protein_coding	OTTHUMT00000207207.1	C	NM_002548		2995386	-1	no_errors	ENST00000331459	ensembl	human	known	70_37	missense	SNP	0.001	G
OR2A5	393046	genome.wustl.edu	37	7	143748007	143748007	+	Silent	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:143748007C>A	ENST00000408906.2	+	1	547	c.513C>A	c.(511-513)ccC>ccA	p.P171P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGGGCCCCATGAAATCA	0.552																																																	0													185.0	189.0	188.0					7																	143748007		2055	4223	6278	SO:0001819	synonymous_variant	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.513C>A	7.37:g.143748007C>A			B9EGX2|O43885|O43888	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P171	ENST00000408906.2	37	c.513	CCDS43668.1	7																																																																																			OR2A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A5	HGNC	protein_coding	OTTHUMT00000349986.1	C			143748007	+1	no_errors	ENST00000408906	ensembl	human	known	70_37	silent	SNP	0.815	A
OR2A25	392138	genome.wustl.edu	37	7	143772059	143772059	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:143772059C>T	ENST00000408898.2	+	1	785	c.747C>T	c.(745-747)ctC>ctT	p.L249L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGTTGGACTCTTTTATGGCA	0.483																																																	0													121.0	132.0	128.0					7																	143772059		2194	4299	6493	SO:0001819	synonymous_variant	392138				CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.747C>T	7.37:g.143772059C>T			B2RNC9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L249	ENST00000408898.2	37	c.747	CCDS43669.1	7																																																																																			OR2A25	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A25	HGNC	protein_coding	OTTHUMT00000350000.1	C			143772059	+1	no_errors	ENST00000408898	ensembl	human	known	70_37	silent	SNP	0.992	T
OR4C46	119749	genome.wustl.edu	37	11	51515606	51515606	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:51515606G>C	ENST00000328188.1	+	1	325	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473																																																	0													151.0	144.0	146.0					11																	51515606		2201	4296	6497	SO:0001583	missense	119749				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.325G>C	11.37:g.51515606G>C	ENSP00000329056:p.Glu109Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E109Q	ENST00000328188.1	37	c.325	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	7.821	0.717684	0.15372	.	.	ENSG00000185926	ENST00000328188	T	0.39997	1.05	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000273	T	0.48995	0.1531	M	0.91818	3.245	0.09310	N	0.999999	P	0.47253	0.892	B	0.39562	0.303	T	0.57516	-0.7798	10	0.87932	D	0	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	109	A6NHA9	O4C46_HUMAN	Q	109	ENSP00000329056:E109Q	ENSP00000329056:E109Q	E	+	1	0	OR4C46	51372182	0.979000	0.34478	0.131000	0.22000	0.006000	0.05464	3.490000	0.53245	1.513000	0.48852	0.134000	0.15878	GAG	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	G	NM_001004703		51515606	+1	no_errors	ENST00000328188	ensembl	human	known	70_37	missense	SNP	0.239	C
OR4F6	390648	genome.wustl.edu	37	15	102346624	102346624	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:102346624C>G	ENST00000328882.4	+	1	723	c.702C>G	c.(700-702)ttC>ttG	p.F234L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTGGTATATTCAAGGCTTTCT	0.348																																																	0													159.0	155.0	156.0					15																	102346624		2202	4300	6502	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.702C>G	15.37:g.102346624C>G	ENSP00000327525:p.Phe234Leu		B9EH28|Q6IF95	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F234L	ENST00000328882.4	37	c.702	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	3.923	-0.017802	0.07681	.	.	ENSG00000184140	ENST00000328882	T	0.00054	8.8	4.78	0.806	0.18708	GPCR, rhodopsin-like superfamily (1);	0.670173	0.13733	N	0.366542	T	0.00073	0.0002	N	0.02973	-0.45	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.17561	-1.0365	10	0.62326	D	0.03	.	4.3783	0.11281	0.4832:0.3627:0.0:0.154	.	234	Q8NGB9	OR4F6_HUMAN	L	234	ENSP00000327525:F234L	ENSP00000327525:F234L	F	+	3	2	OR4F6	100164147	0.120000	0.22244	0.173000	0.22940	0.058000	0.15608	0.482000	0.22276	0.066000	0.16515	-0.282000	0.10007	TTC	OR4F6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.348	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	HGNC	protein_coding	OTTHUMT00000417593.1	C			102346624	+1	no_errors	ENST00000328882	ensembl	human	known	70_37	missense	SNP	0.001	G
OR5B21	219968	genome.wustl.edu	37	11	58275515	58275515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:58275515G>A	ENST00000360374.2	-	1	63	c.64C>T	c.(64-66)Cag>Tag	p.Q22*		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGGGTATCTGAAGATTGGGG	0.463																																																	0													64.0	61.0	62.0					11																	58275515		2201	4295	6496	SO:0001587	stop_gained	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.64C>T	11.37:g.58275515G>A	ENSP00000353537:p.Gln22*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q22*	ENST00000360374.2	37	c.64	CCDS31552.1	11	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386150	0.42308	.	.	ENSG00000198283	ENST00000360374	.	.	.	5.08	4.17	0.49024	.	0.242387	0.21316	U	0.076546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.4572	12.114	0.53856	0.0834:0.0:0.9166:0.0	.	.	.	.	X	22	.	ENSP00000353537:Q22X	Q	-	1	0	OR5B21	58032091	0.405000	0.25336	0.055000	0.19348	0.499000	0.33736	2.443000	0.44881	1.361000	0.45981	0.655000	0.94253	CAG	OR5B21	-	NULL		0.463	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B21	HGNC	protein_coding	OTTHUMT00000394891.1	G	NM_001005218		58275515	-1	no_errors	ENST00000360374	ensembl	human	known	70_37	nonsense	SNP	0.131	A
OR5H15	403274	genome.wustl.edu	37	3	97888151	97888151	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:97888151C>G	ENST00000356526.2	+	1	608	c.608C>G	c.(607-609)tCa>tGa	p.S203*		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTTATTTTCTCAGGTTCAATT	0.313																																																	0													35.0	40.0	38.0					3																	97888151		2203	4296	6499	SO:0001587	stop_gained	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.608C>G	3.37:g.97888151C>G	ENSP00000373195:p.Ser203*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S203*	ENST00000356526.2	37	c.608	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	10.43	1.348808	0.24426	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	.	.	.	2.48	2.48	0.30137	.	0.310256	0.23491	N	0.047606	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.6024	0.22707	0.2847:0.7153:0.0:0.0	.	.	.	.	X	203	.	ENSP00000373195:S203X	S	+	2	0	OR5H15	99370841	0.000000	0.05858	0.012000	0.15200	0.007000	0.05969	-0.138000	0.10374	1.386000	0.46466	0.184000	0.17185	TCA	OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.313	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	C			97888151	+1	no_errors	ENST00000356526	ensembl	human	known	70_37	nonsense	SNP	0.000	G
OR5W2	390148	genome.wustl.edu	37	11	55681343	55681343	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:55681343G>C	ENST00000344514.1	-	1	715	c.716C>G	c.(715-717)tCt>tGt	p.S239C		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTGCATGTAGAGAGAGCTTT	0.403																																					Melanoma(48;171 1190 15239 43886 49348)												0													79.0	90.0	87.0					11																	55681343		2201	4296	6497	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.716C>G	11.37:g.55681343G>C	ENSP00000342448:p.Ser239Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239C	ENST00000344514.1	37	c.716	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733013	0.30684	.	.	ENSG00000187612	ENST00000344514	T	0.00314	8.14	5.0	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	N	0.001255	T	0.01353	0.0044	H	0.99312	4.51	0.29227	N	0.873554	D	0.89917	1.0	D	0.97110	1.0	T	0.07635	-1.0762	10	0.87932	D	0	.	11.2745	0.49159	0.0901:0.0:0.9099:0.0	.	239	Q8NH69	OR5W2_HUMAN	C	239	ENSP00000342448:S239C	ENSP00000342448:S239C	S	-	2	0	OR5W2	55437919	0.994000	0.37717	0.941000	0.38009	0.069000	0.16628	2.715000	0.47210	1.093000	0.41377	0.542000	0.68232	TCT	OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.403	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	G	NM_001001960		55681343	-1	no_errors	ENST00000344514	ensembl	human	known	70_37	missense	SNP	0.850	C
OR5M8	219484	genome.wustl.edu	37	11	56258535	56258535	+	Silent	SNP	G	G	A	rs373410533		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:56258535G>A	ENST00000327216.2	-	1	336	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGACCAAGGCGATAAAAAGGT	0.468																																																	0								G		1,4401	2.1+/-5.4	0,1,2200	116.0	100.0	106.0		312	-4.0	0.0	11		106	0,8592		0,0,4296	no	coding-synonymous	OR5M8	NM_001005282.1		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		104/312	56258535	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.312C>T	11.37:g.56258535G>A			B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I104	ENST00000327216.2	37	c.312	CCDS31533.1	11																																																																																			OR5M8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	HGNC	protein_coding	OTTHUMT00000391641.1	G	NM_001005282		56258535	-1	no_errors	ENST00000327216	ensembl	human	known	70_37	silent	SNP	0.000	A
OR6C68	403284	genome.wustl.edu	37	12	55886453	55886453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:55886453C>T	ENST00000548615.1	+	1	292	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000379662.1_Nonsense_Mutation_p.Q103*|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATGTGTCATTCAGCTATTTTT	0.358																																																	0													162.0	154.0	157.0					12																	55886453		2203	4300	6503	SO:0001587	stop_gained	403284				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.292C>T	12.37:g.55886453C>T	ENSP00000448811:p.Gln98*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q103*	ENST00000548615.1	37	c.307	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841725	0.71488	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	.	.	.	4.77	4.77	0.60923	.	0.000000	0.48286	D	0.000190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9913	0.89170	0.0:1.0:0.0:0.0	.	.	.	.	X	103;98	.	ENSP00000368983:Q103X	Q	+	1	0	OR6C68	54172720	1.000000	0.71417	0.073000	0.20177	0.004000	0.04260	6.820000	0.75267	2.648000	0.89879	0.603000	0.83216	CAG	OR6C68	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.358	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	C			55886453	+1	no_errors	ENST00000379662	ensembl	human	known	70_37	nonsense	SNP	0.997	T
OR8H1	219469	genome.wustl.edu	37	11	56057847	56057847	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:56057847G>A	ENST00000313022.2	-	1	719	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CTGCTTTCCTGAAGTGGAATT	0.383																																																	0													121.0	114.0	116.0					11																	56057847		2201	4296	6497	SO:0001583	missense	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.692C>T	11.37:g.56057847G>A	ENSP00000323595:p.Ser231Leu		B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S231L	ENST00000313022.2	37	c.692	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	G	6.577	0.474772	0.12521	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00152	8.66	3.9	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.343884	0.21519	N	0.073253	T	0.00144	0.0004	L	0.44542	1.39	0.09310	N	1	B	0.33299	0.407	B	0.35931	0.214	T	0.27157	-1.0082	10	0.87932	D	0	.	11.1786	0.48614	0.0:0.0:0.5321:0.4679	.	231	Q8NGG4	OR8H1_HUMAN	L	231;227	ENSP00000323595:S231L	ENSP00000323595:S231L	S	-	2	0	OR8H1	55814423	0.000000	0.05858	0.053000	0.19242	0.001000	0.01503	0.248000	0.18198	0.879000	0.35944	-0.305000	0.09177	TCA	OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.383	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	G	NM_001005199		56057847	-1	no_errors	ENST00000313022	ensembl	human	known	70_37	missense	SNP	0.002	A
ORC3	23595	genome.wustl.edu	37	6	88367713	88367713	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:88367713G>C	ENST00000392844.3	+	16	1716	c.1668G>C	c.(1666-1668)gtG>gtC	p.V556V	ORC3_ENST00000546266.1_Silent_p.V413V|ORC3_ENST00000257789.4_Silent_p.V557V|ORC3_ENST00000417380.2_3'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	556					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AAAATGTTGTGAACTTCATTG	0.328																																																	0													78.0	78.0	78.0					6																	88367713		2203	4300	6503	SO:0001819	synonymous_variant	23595			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1668G>C	6.37:g.88367713G>C			A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	pfam_ORC3	p.V557	ENST00000392844.3	37	c.1671	CCDS43486.1	6																																																																																			ORC3	-	NULL		0.328	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	G			88367713	+1	no_errors	ENST00000257789	ensembl	human	known	70_37	silent	SNP	0.999	C
ORM1	5004	genome.wustl.edu	37	9	117086070	117086070	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:117086070G>C	ENST00000259396.8	+	2	320	c.242G>C	c.(241-243)aGa>aCa	p.R81T	ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	81					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	ATCTTTCTCAGAGAGTACCAG	0.537																																																	0													88.0	89.0	89.0					9																	117086070		2203	4300	6503	SO:0001583	missense	5004				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.242G>C	9.37:g.117086070G>C	ENSP00000259396:p.Arg81Thr		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop	p.R81T	ENST00000259396.8	37	c.242	CCDS6803.1	9	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843261	0.32606	.	.	ENSG00000229314	ENST00000259396	T	0.05717	3.4	4.77	2.5	0.30297	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.484707	0.22200	N	0.063247	T	0.17066	0.0410	M	0.68317	2.08	0.09310	N	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.02179	-1.1200	10	0.87932	D	0	-25.1517	5.213	0.15327	0.3003:0.0:0.6997:0.0	.	81	P02763	A1AG1_HUMAN	T	81	ENSP00000259396:R81T	ENSP00000259396:R81T	R	+	2	0	ORM1	116125891	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.195000	0.09546	1.135000	0.42183	0.467000	0.42956	AGA	ORM1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop		0.537	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORM1	HGNC	protein_coding	OTTHUMT00000055426.1	G			117086070	+1	no_errors	ENST00000259396	ensembl	human	known	70_37	missense	SNP	0.002	C
OSBP	5007	genome.wustl.edu	37	11	59344396	59344396	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:59344396C>A	ENST00000263847.1	-	13	2642	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	721					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATCAGTCTCTGGTCAGGTC	0.498																																																	0													168.0	173.0	171.0					11																	59344396		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.2163G>T	11.37:g.59344396C>A	ENSP00000263847:p.Gln721His		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q721H	ENST00000263847.1	37	c.2163	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727289	0.69074	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.35421	1.31	5.56	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81104	-0.1084	10	0.87932	D	0	-21.9342	16.0592	0.80826	0.0:0.8653:0.1347:0.0	.	721	P22059	OSBP1_HUMAN	H	721;321	ENSP00000263847:Q721H	ENSP00000263847:Q721H	Q	-	3	2	OSBP	59100972	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.026000	0.70873	1.329000	0.45376	-0.175000	0.13238	CAG	OSBP	-	pfam_Oxysterol-bd		0.498	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	C			59344396	-1	no_errors	ENST00000263847	ensembl	human	known	70_37	missense	SNP	1.000	A
OSGIN1	29948	genome.wustl.edu	37	16	83999202	83999202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:83999202C>T	ENST00000343939.2	+	7	1656	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	OSGIN1_ENST00000393306.1_Nonsense_Mutation_p.Q342*|OSGIN1_ENST00000361711.3_Nonsense_Mutation_p.Q342*			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	425					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CAAGGTGCACCAGATGATGCG	0.637																																																	0													72.0	65.0	68.0					16																	83999202		2200	4300	6500	SO:0001587	stop_gained	29948			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1273C>T	16.37:g.83999202C>T	ENSP00000343376:p.Gln425*		Q52M33|Q86UQ1|Q96S88|Q9BZ70	Nonsense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.Q342*	ENST00000343939.2	37	c.1024		16	.	.	.	.	.	.	.	.	.	.	C	38	6.894851	0.97916	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-32.9331	16.8409	0.85968	0.0:1.0:0.0:0.0	.	.	.	.	X	425;342;342	.	ENSP00000343376:Q425X	Q	+	1	0	OSGIN1	82556703	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	3.531000	0.53546	2.211000	0.71520	0.467000	0.42956	CAG	OSGIN1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.637	OSGIN1-001	PUTATIVE	basic	protein_coding	OSGIN1	HGNC	protein_coding	OTTHUMT00000269081.1	C	NM_013370		83999202	+1	no_errors	ENST00000361711	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PADI3	51702	genome.wustl.edu	37	1	17596733	17596733	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:17596733G>A	ENST00000375460.3	+	7	698	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	220					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCAGGTCCTGAGGATGTGTG	0.587																																																	0													171.0	156.0	161.0					1																	17596733		2203	4300	6503	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.658G>A	1.37:g.17596733G>A	ENSP00000364609:p.Glu220Lys		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E220K	ENST00000375460.3	37	c.658	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.330992	0.01298	.	.	ENSG00000142619	ENST00000375460	T	0.16597	2.33	5.69	1.51	0.23008	Protein-arginine deiminase (PAD), central domain (2);	0.585375	0.18547	N	0.138021	T	0.08223	0.0205	L	0.28274	0.84	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41305	-0.9516	10	0.02654	T	1	-21.4029	6.2043	0.20593	0.1601:0.2896:0.5503:0.0	.	220	Q9ULW8	PADI3_HUMAN	K	220	ENSP00000364609:E220K	ENSP00000364609:E220K	E	+	1	0	PADI3	17469320	0.438000	0.25602	0.599000	0.28851	0.194000	0.23727	0.587000	0.23909	0.342000	0.23796	0.591000	0.81541	GAG	PADI3	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.587	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	G			17596733	+1	no_errors	ENST00000375460	ensembl	human	known	70_37	missense	SNP	0.068	A
PAK4	10298	genome.wustl.edu	37	19	39666057	39666057	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:39666057C>T	ENST00000593690.1	+	8	1765	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	PAK4_ENST00000360442.3_Silent_p.I446I|PAK4_ENST00000599386.1_Silent_p.I293I|PAK4_ENST00000599470.1_Silent_p.I293I|PAK4_ENST00000321944.4_Silent_p.I356I|PAK4_ENST00000358301.3_Silent_p.I446I|PAK4_ENST00000435673.2_Silent_p.I446I	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCGACTCGATCCTGCTGACCC	0.687																																																	0													35.0	34.0	34.0					19																	39666057		2202	4300	6502	SO:0001819	synonymous_variant	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1338C>T	19.37:g.39666057C>T			B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.I446	ENST00000593690.1	37	c.1338	CCDS12528.1	19																																																																																			PAK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.687	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	C			39666057	+1	no_errors	ENST00000358301	ensembl	human	known	70_37	silent	SNP	1.000	T
PALB2	79728	genome.wustl.edu	37	16	23647106	23647106	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:23647106G>C	ENST00000261584.4	-	4	913	c.761C>G	c.(760-762)tCa>tGa	p.S254*		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	254	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACCGCTATCTGATAGAGTCTG	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													140.0	144.0	142.0					16																	23647106		2197	4300	6497	SO:0001587	stop_gained	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.761C>G	16.37:g.23647106G>C	ENSP00000261584:p.Ser254*		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.S254*	ENST00000261584.4	37	c.761	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556104	0.65425	.	.	ENSG00000083093	ENST00000261584	.	.	.	5.66	-1.57	0.08506	.	1.256570	0.05410	N	0.542248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	3.3439	8.7304	0.34496	0.5881:0.0:0.4119:0.0	.	.	.	.	X	254	.	ENSP00000261584:S254X	S	-	2	0	PALB2	23554607	0.004000	0.15560	0.000000	0.03702	0.038000	0.13279	0.445000	0.21677	-0.060000	0.13132	0.655000	0.94253	TCA	PALB2	-	NULL		0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	G	NM_024675		23647106	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	nonsense	SNP	0.000	C
PAQR5	54852	genome.wustl.edu	37	15	69652359	69652359	+	5'UTR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:69652359G>C	ENST00000340965.3	+	0	608				PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_5'UTR|PAQR5_ENST00000561153.1_5'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V						multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TTAGAGCTTTGAGTGAGGCCT	0.557																																																	0													60.0	56.0	57.0					15																	69652359		689	1589	2278	SO:0001623	5_prime_UTR_variant	54852				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.-61G>C	15.37:g.69652359G>C			Q8IXU2	RNA	SNP	-	NULL	ENST00000340965.3	37	NULL	CCDS10232.1	15																																																																																			PAQR5	-	-		0.557	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	G	NM_017705		69652359	+1	no_errors	ENST00000561027	ensembl	human	known	70_37	rna	SNP	0.218	C
PARP14	54625	genome.wustl.edu	37	3	122432725	122432725	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:122432725C>G	ENST00000474629.2	+	11	4042	c.3776C>G	c.(3775-3777)tCc>tGc	p.S1259C		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1259	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTAGGGGTCTCCAAAGCAATT	0.348																																																	0													194.0	171.0	178.0					3																	122432725		1833	4085	5918	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3776C>G	3.37:g.122432725C>G	ENSP00000418194:p.Ser1259Cys		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1259C	ENST00000474629.2	37	c.3776	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178107	0.78564	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.22743	1.94	5.51	5.51	0.81932	Appr-1-p processing (3);	0.000000	0.64402	D	0.000002	T	0.48572	0.1507	M	0.75884	2.315	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32481	-0.9905	10	0.45353	T	0.12	.	18.1516	0.89676	0.0:1.0:0.0:0.0	.	1259;1259	Q460N5-4;Q460N5	.;PAR14_HUMAN	C	1259;1178;255	ENSP00000418194:S1259C	ENSP00000381224:S255C	S	+	2	0	PARP14	123915415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.977000	0.29475	2.868000	0.98415	0.557000	0.71058	TCC	PARP14	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.348	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122432725	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	1.000	G
PASK	23178	genome.wustl.edu	37	2	242047684	242047684	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:242047684G>A	ENST00000405260.1	-	16	4263	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	PASK_ENST00000358649.4_Silent_p.L1196L|PASK_ENST00000539818.1_Silent_p.L973L|PASK_ENST00000234040.4_Silent_p.L1189L|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000544142.1_Silent_p.L1003L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTGACTCCCAGAGACCACATC	0.617																																																	0													106.0	92.0	97.0					2																	242047684		2203	4300	6503	SO:0001819	synonymous_variant	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3565C>T	2.37:g.242047684G>A			G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.L1196	ENST00000405260.1	37	c.3586	CCDS2545.1	2																																																																																			PASK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	G	NM_015148		242047684	-1	no_errors	ENST00000358649	ensembl	human	known	70_37	silent	SNP	0.999	A
PBX3	5090	genome.wustl.edu	37	9	128697785	128697785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:128697785G>T	ENST00000373489.5	+	5	758	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	PBX3_ENST00000373483.2_Nonsense_Mutation_p.E67*|PBX3_ENST00000373487.4_Nonsense_Mutation_p.E248*|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Nonsense_Mutation_p.E248*|PBX3_ENST00000447726.2_Nonsense_Mutation_p.E173*	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	248					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ACAGGCCACAGAAATCTTGAA	0.423																																																	0													116.0	105.0	109.0					9																	128697785		2203	4300	6503	SO:0001587	stop_gained	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.742G>T	9.37:g.128697785G>T	ENSP00000362588:p.Glu248*		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Nonsense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E248*	ENST00000373489.5	37	c.742	CCDS6865.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.09|18.09	3.546818|3.546818	0.65198|0.65198	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998|ENST00000428092	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76428	.|0.3986	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74839	.|-0.3528	.|3	0.48119|.	T|.	0.1|.	.|.	19.5338|19.5338	0.95240|0.95240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	67;248;248;248;67;67;173;159|168	.|.	ENSP00000341990:E248X|.	E|R	+|+	1|2	0|0	PBX3|PBX3	127737606|127737606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	2.692000|2.692000	0.91855|0.91855	0.557000|0.557000	0.71058|0.71058	GAA|AGA	PBX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.423	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	G			128697785	+1	no_errors	ENST00000373489	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PCCA	5095	genome.wustl.edu	37	13	100741455	100741455	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:100741455G>A	ENST00000376285.1	+	1	119	c.81G>A	c.(79-81)ctG>ctA	p.L27L	PCCA_ENST00000376279.3_Silent_p.L27L|PCCA_ENST00000376286.4_Silent_p.L27L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	27					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGCTGATGCTGAGCGCGGCGC	0.741																																																	0													6.0	7.0	6.0					13																	100741455		2016	3952	5968	SO:0001819	synonymous_variant	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.81G>A	13.37:g.100741455G>A			B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.L27	ENST00000376285.1	37	c.81	CCDS9496.2	13																																																																																			PCCA	-	superfamily_PreATP-grasp_fold		0.741	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	G			100741455	+1	no_errors	ENST00000376285	ensembl	human	known	70_37	silent	SNP	0.003	A
PCDH10	57575	genome.wustl.edu	37	4	134073539	134073539	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:134073539C>T	ENST00000264360.5	+	1	3070	c.2244C>T	c.(2242-2244)atC>atT	p.I748I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	748					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCTCAACATCTATACTTGTC	0.597																																																	0													72.0	78.0	76.0					4																	134073539		2203	4300	6503	SO:0001819	synonymous_variant	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2244C>T	4.37:g.134073539C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I748	ENST00000264360.5	37	c.2244	CCDS34063.1	4																																																																																			PCDH10	-	NULL		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	C	NM_032961		134073539	+1	no_errors	ENST00000264360	ensembl	human	known	70_37	silent	SNP	0.988	T
PCDH15	65217	genome.wustl.edu	37	10	55949126	55949126	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:55949126G>A	ENST00000320301.6	-	12	1700				PCDH15_ENST00000361849.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P46S|PCDH15_ENST00000373955.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.P442S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P442S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTACCTACAGGAACTCCACTG	0.338										HNSCC(58;0.16)																																							0													93.0	85.0	87.0					10																	55949126		1565	3580	5145	SO:0001627	intron_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1306-4098C>T	10.37:g.55949126G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P46S	ENST00000320301.6	37	c.136	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977320	0.18812	.	.	ENSG00000150275	ENST00000373965;ENST00000409834;ENST00000395445	T;T;T	0.61510	0.1;0.31;0.1	5.47	5.47	0.80525	.	.	.	.	.	T	0.61299	0.2336	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.53585	-0.8418	9	0.10636	T	0.68	.	16.8303	0.85942	0.0:0.0:1.0:0.0	.	442;442	C6ZEF5;A2A3E2	.;.	S	442;46;442	ENSP00000363076:P442S;ENSP00000386693:P46S;ENSP00000378832:P442S	ENSP00000363076:P442S	P	-	1	0	PCDH15	55619132	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.738000	0.68613	2.579000	0.87056	0.585000	0.79938	CCT	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55949126	-1	no_errors	ENST00000409834	ensembl	human	putative	70_37	missense	SNP	1.000	A
PCDHB1	29930	genome.wustl.edu	37	5	140433012	140433012	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:140433012C>T	ENST00000306549.3	+	1	2034	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAACCAGCTCTTTCCACTAC	0.448																																																	0													142.0	138.0	139.0					5																	140433012		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1957C>T	5.37:g.140433012C>T	ENSP00000307234:p.Leu653Phe		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L653F	ENST00000306549.3	37	c.1957	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030889	0.54790	.	.	ENSG00000171815	ENST00000306549	T	0.55760	0.5	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000647	T	0.78142	0.4237	M	0.87328	2.875	0.49915	D	0.999835	D	0.89917	1.0	D	0.79784	0.993	T	0.79227	-0.1890	10	0.59425	D	0.04	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	653	Q9Y5F3	PCDB1_HUMAN	F	653	ENSP00000307234:L653F	ENSP00000307234:L653F	L	+	1	0	PCDHB1	140413196	0.960000	0.32886	1.000000	0.80357	0.521000	0.34408	6.026000	0.70873	2.894000	0.99253	0.655000	0.94253	CTT	PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	C	NM_013340		140433012	+1	no_errors	ENST00000306549	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHGA2	56113	genome.wustl.edu	37	5	140719441	140719441	+	Silent	SNP	G	G	C	rs141252229		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:140719441G>C	ENST00000394576.2	+	1	903	c.903G>C	c.(901-903)ctG>ctC	p.L301L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGAACTGACAATCATAA	0.428																																																	0													144.0	155.0	151.0					5																	140719441		2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.903G>C	5.37:g.140719441G>C			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L301	ENST00000394576.2	37	c.903	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140719441	+1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.019	C
PCLO	27445	genome.wustl.edu	37	7	82585820	82585820	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:82585820G>C	ENST00000333891.9	-	5	4786	c.4449C>G	c.(4447-4449)agC>agG	p.S1483R	PCLO_ENST00000423517.2_Missense_Mutation_p.S1483R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATCTTGTTGGCTATCTTTTT	0.353																																																	0													109.0	101.0	103.0					7																	82585820		1838	4088	5926	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4449C>G	7.37:g.82585820G>C	ENSP00000334319:p.Ser1483Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S1483R	ENST00000333891.9	37	c.4449	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	4.625	0.116167	0.08831	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15718	2.4;2.4	5.43	4.35	0.52113	.	.	.	.	.	T	0.14874	0.0359	L	0.27053	0.805	0.58432	D	0.999995	P;P	0.37636	0.603;0.603	B;B	0.39258	0.203;0.295	T	0.04678	-1.0934	9	0.87932	D	0	.	13.3937	0.60838	0.0865:0.0:0.9135:0.0	.	1483;1483	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1414;1483;1483	ENSP00000334319:S1483R;ENSP00000388393:S1483R	ENSP00000334319:S1483R	S	-	3	2	PCLO	82423756	0.003000	0.15002	0.100000	0.21137	0.233000	0.25261	0.357000	0.20199	2.564000	0.86499	0.650000	0.86243	AGC	PCLO	-	NULL		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82585820	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.082	C
PCLO	27445	genome.wustl.edu	37	7	82585825	82585825	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:82585825C>G	ENST00000333891.9	-	5	4781	c.4444G>C	c.(4444-4446)Gat>Cat	p.D1482H	PCLO_ENST00000423517.2_Missense_Mutation_p.D1482H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGGCTATCTTTTTTAAAA	0.358																																																	0													108.0	100.0	103.0					7																	82585825		1837	4086	5923	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4444G>C	7.37:g.82585825C>G	ENSP00000334319:p.Asp1482His			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.D1482H	ENST00000333891.9	37	c.4444	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	5.340	0.248051	0.10130	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.43	5.43	0.79202	.	.	.	.	.	T	0.24044	0.0582	L	0.40543	1.245	0.80722	D	1	P;P	0.46220	0.755;0.874	B;P	0.46479	0.346;0.518	T	0.00804	-1.1559	9	0.87932	D	0	.	19.3027	0.94149	0.0:1.0:0.0:0.0	.	1482;1482	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1413;1482;1482	ENSP00000334319:D1482H;ENSP00000388393:D1482H	ENSP00000334319:D1482H	D	-	1	0	PCLO	82423761	0.317000	0.24589	0.213000	0.23690	0.297000	0.27493	2.972000	0.49256	2.564000	0.86499	0.650000	0.86243	GAT	PCLO	-	NULL		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82585825	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.606	G
PDE4B	5142	genome.wustl.edu	37	1	66384365	66384365	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:66384365G>A	ENST00000329654.4	+	3	315	c.128G>A	c.(127-129)aGa>aAa	p.R43K	PDE4B_ENST00000371049.3_Missense_Mutation_p.R43K	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	43					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGGAGAGGGAGAAGGTGTTGC	0.463																																																	0													91.0	87.0	88.0					1																	66384365		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.128G>A	1.37:g.66384365G>A	ENSP00000332116:p.Arg43Lys		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R43K	ENST00000329654.4	37	c.128	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429380	0.62844	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.17528	2.27;2.27;2.27	5.6	5.6	0.85130	.	0.520658	0.21625	N	0.071570	T	0.06690	0.0171	L	0.39898	1.24	0.31506	N	0.664223	B	0.02656	0.0	B	0.04013	0.001	T	0.12528	-1.0544	10	0.34782	T	0.22	.	11.6216	0.51121	0.0821:0.0:0.9179:0.0	.	43	Q07343	PDE4B_HUMAN	K	43	ENSP00000332116:R43K;ENSP00000342637:R43K;ENSP00000360088:R43K	ENSP00000332116:R43K	R	+	2	0	PDE4B	66156953	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.867000	0.75511	2.626000	0.88956	0.650000	0.86243	AGA	PDE4B	-	NULL		0.463	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66384365	+1	no_errors	ENST00000329654	ensembl	human	known	70_37	missense	SNP	1.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233431150	233431150	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:233431150C>T	ENST00000258229.9	-	1	309	c.75G>A	c.(73-75)ccG>ccA	p.P25P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	25						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCTCTGCTCCGGGTCGTGGT	0.706																																																	0													16.0	21.0	19.0					1																	233431150		2147	4205	6352	SO:0001819	synonymous_variant	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.75G>A	1.37:g.233431150C>T			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.P25	ENST00000258229.9	37	c.75	CCDS44335.1	1																																																																																			PCNXL2	-	NULL		0.706	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233431150	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	silent	SNP	0.084	T
PDILT	204474	genome.wustl.edu	37	16	20371898	20371898	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:20371898C>T	ENST00000302451.4	-	11	1746	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	500					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACCTCATCCTCATCCTCAATC	0.443																																																	0													245.0	221.0	229.0					16																	20371898		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1498G>A	16.37:g.20371898C>T	ENSP00000305465:p.Glu500Lys		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E500K	ENST00000302451.4	37	c.1498	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688595	0.48097	.	.	ENSG00000169340	ENST00000302451	T	0.03242	4.0	4.58	3.63	0.41609	.	0.232512	0.43416	D	0.000568	T	0.02304	0.0071	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47407	-0.9120	10	0.11182	T	0.66	.	8.8645	0.35278	0.0:0.9001:0.0:0.0999	.	500	Q8N807	PDILT_HUMAN	K	500	ENSP00000305465:E500K	ENSP00000305465:E500K	E	-	1	0	PDILT	20279399	0.012000	0.17670	0.043000	0.18650	0.654000	0.38779	0.424000	0.21330	1.530000	0.49136	0.650000	0.86243	GAG	PDILT	-	NULL		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	C	NM_174924		20371898	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	missense	SNP	0.052	T
PDS5B	23047	genome.wustl.edu	37	13	33222994	33222994	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:33222994G>C	ENST00000315596.10	+	2	271	c.85G>C	c.(85-87)Gag>Cag	p.E29Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	29					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATATCTAAAGAGGAGATGGT	0.378																																																	0													108.0	108.0	108.0					13																	33222994		1841	4071	5912	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.85G>C	13.37:g.33222994G>C	ENSP00000313851:p.Glu29Gln		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E29Q	ENST00000315596.10	37	c.85	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.392947	0.96009	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.36672	1.1	0.80722	D	1	D;P;P	0.54601	0.967;0.948;0.913	P;P;P	0.54889	0.763;0.466;0.614	T	0.64292	-0.6442	9	0.51188	T	0.08	-13.6884	19.2775	0.94038	0.0:0.0:1.0:0.0	.	29;29;29	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	Q	29	.	ENSP00000313851:E29Q	E	+	1	0	PDS5B	32120994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.692000	0.98682	2.548000	0.85928	0.591000	0.81541	GAG	PDS5B	-	NULL		0.378	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	G	NM_015032		33222994	+1	no_errors	ENST00000315596	ensembl	human	known	70_37	missense	SNP	1.000	C
PDXDC1	23042	genome.wustl.edu	37	16	15120537	15120537	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:15120537G>A	ENST00000396410.4	+	14	1275	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	PDXDC1_ENST00000535621.2_Missense_Mutation_p.R393K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R365K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R302K|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R370K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R411K|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R378K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R366K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	393					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGTGTTCAGATTTTTCCAG	0.393																																																	0													106.0	115.0	112.0					16																	15120537		2197	4300	6497	SO:0001583	missense	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1178G>A	16.37:g.15120537G>A	ENSP00000379691:p.Arg393Lys		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R393K	ENST00000396410.4	37	c.1178	CCDS32393.1	16	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136727	0.37728	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.26	3.05	0.35203	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.148415	0.64402	D	0.000010	T	0.20901	0.0503	N	0.14661	0.345	0.41025	D	0.985113	B;B;B;B;B;B	0.13594	0.004;0.008;0.008;0.004;0.008;0.001	B;B;B;B;B;B	0.16289	0.004;0.015;0.004;0.004;0.009;0.004	T	0.05632	-1.0873	10	0.15066	T	0.55	-16.7748	6.7951	0.23721	0.3028:0.0:0.6972:0.0	.	365;302;393;365;393;370	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	K	378;302;393;393;365;99;370	ENSP00000322807:R378K;ENSP00000400310:R302K;ENSP00000437835:R393K;ENSP00000379691:R393K;ENSP00000391147:R365K;ENSP00000406703:R370K	ENSP00000322807:R378K	R	+	2	0	PDXDC1	15028038	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.721000	0.38032	1.187000	0.43000	0.561000	0.74099	AGA	PDXDC1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.393	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXDC1	HGNC	protein_coding	OTTHUMT00000389065.2	G	NM_015027		15120537	+1	no_errors	ENST00000396410	ensembl	human	known	70_37	missense	SNP	0.999	A
PDZD7	79955	genome.wustl.edu	37	10	102778941	102778941	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:102778941G>T	ENST00000370215.3	-	8	1187	c.962C>A	c.(961-963)gCc>gAc	p.A321D		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	321	Ser-rich.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCTCTCAGAGGCCGGGGACAG	0.677											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													5.0	4.0	4.0					10																	102778941		1936	3891	5827	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.962C>A	10.37:g.102778941G>T	ENSP00000359234:p.Ala321Asp	1369	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A321D	ENST00000370215.3	37	c.962	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595186	0.46318	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11604	2.76	5.21	5.21	0.72293	.	0.357659	0.29522	N	0.011904	T	0.12561	0.0305	L	0.38531	1.155	0.33223	D	0.554923	P;P	0.50272	0.933;0.573	P;B	0.44860	0.462;0.3	T	0.12372	-1.0550	10	0.16420	T	0.52	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	321;321	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	321	ENSP00000359234:A321D	ENSP00000359234:A321D	A	-	2	0	PDZD7	102768931	0.999000	0.42202	0.989000	0.46669	0.966000	0.64601	2.982000	0.49337	2.433000	0.82419	0.561000	0.74099	GCC	PDZD7	-	NULL		0.677	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	G	NM_024895		102778941	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	missense	SNP	0.988	T
PDZRN4	29951	genome.wustl.edu	37	12	41871723	41871723	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:41871723G>C	ENST00000402685.2	+	4	851				PDZRN4_ENST00000298919.7_Splice_Site|PDZRN4_ENST00000539469.2_Intron	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4								ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCATCCACTGTAAGTATGGC	0.323																																																	0													11.0	11.0	11.0					12																	41871723		876	1988	2864	SO:0001627	intron_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.844-28535G>C	12.37:g.41871723G>C			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Splice_Site	SNP	-	e2+1	ENST00000402685.2	37	c.63+1	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	6.170	0.399545	0.11696	.	.	ENSG00000165966	ENST00000298919	.	.	.	4.57	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5441	0.56188	0.0:0.0:0.563:0.437	.	.	.	.	.	-1	.	.	.	+	.	.	PDZRN4	40157990	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.255000	0.18333	0.216000	0.20781	-0.865000	0.03005	.	PDZRN4	-	-		0.323	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	G	NM_013377		41871723	+1	no_errors	ENST00000298919	ensembl	human	known	70_37	splice_site	SNP	0.002	C
PEAK1	79834	genome.wustl.edu	37	15	77473769	77473769	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:77473769C>T	ENST00000560626.2	-	4	975	c.500G>A	c.(499-501)gGa>gAa	p.G167E	PEAK1_ENST00000312493.4_Missense_Mutation_p.G167E|PEAK1_ENST00000558305.1_Missense_Mutation_p.G167E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	167					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTTTCATTTCCTCTTATCTG	0.388																																																	0													183.0	166.0	171.0					15																	77473769		1857	4087	5944	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.500G>A	15.37:g.77473769C>T	ENSP00000452796:p.Gly167Glu		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.G167E	ENST00000560626.2	37	c.500	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	4.197	0.035233	0.08148	.	.	ENSG00000173517	ENST00000312493	T	0.69040	-0.37	5.69	0.344	0.16006	.	0.184683	0.20910	U	0.083499	T	0.39384	0.1076	N	0.12182	0.205	0.29017	N	0.886537	B	0.06786	0.001	B	0.06405	0.002	T	0.12604	-1.0541	10	0.30078	T	0.28	-7.2568	3.8597	0.08990	0.1149:0.584:0.1113:0.1898	.	167	Q9H792	PEAK1_HUMAN	E	167	ENSP00000309230:G167E	ENSP00000309230:G167E	G	-	2	0	AC087465.1	75260824	0.985000	0.35326	0.581000	0.28614	0.817000	0.46193	0.624000	0.24462	0.047000	0.15862	-0.145000	0.13849	GGA	PEAK1	-	NULL		0.388	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77473769	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	0.754	T
PEG3	5178	genome.wustl.edu	37	19	57333033	57333033	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:57333033C>G	ENST00000326441.9	-	7	1018	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	ZIM2_ENST00000599935.1_Missense_Mutation_p.E94Q|ZIM2_ENST00000391708.3_Missense_Mutation_p.E94Q|PEG3_ENST00000598410.1_Missense_Mutation_p.E94Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.E94Q|PEG3_ENST00000593695.1_Missense_Mutation_p.E93Q|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000601070.1_Missense_Mutation_p.E94Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.E94Q|PEG3_ENST00000423103.2_Missense_Mutation_p.E219Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	219					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GATCGGGACTCATAAGCCCTG	0.507																																																	0													187.0	164.0	172.0					19																	57333033		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.655G>C	19.37:g.57333033C>G	ENSP00000326581:p.Glu219Gln		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E219Q	ENST00000326441.9	37	c.655	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543706	0.45280	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.11604	2.76;2.76;3.88;3.88	3.57	2.54	0.30619	.	0.000000	0.41500	D	0.000877	T	0.13200	0.0320	N	0.24115	0.695	.	.	.	D;D;D;P	0.76494	0.997;0.994;0.999;0.614	P;P;D;B	0.64144	0.878;0.795;0.922;0.199	T	0.18650	-1.0330	9	0.22706	T	0.39	-23.2621	7.2734	0.26271	0.0:0.8792:0.0:0.1208	.	94;219;153;94	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	Q	94;94;219;219;219	ENSP00000375589:E94Q;ENSP00000221722:E94Q;ENSP00000326581:E219Q;ENSP00000403051:E219Q	ENSP00000221722:E94Q	E	-	1	0	ZIM2	62024845	0.000000	0.05858	0.013000	0.15412	0.125000	0.20455	0.228000	0.17814	1.118000	0.41863	-0.219000	0.12488	GAG	PEG3	-	NULL		0.507	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57333033	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.013	G
PEX5	5830	genome.wustl.edu	37	12	7356091	7356091	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:7356091G>A	ENST00000455147.2	+	11	1490	c.910G>A	c.(910-912)Gag>Aag	p.E304K	PEX5_ENST00000266563.5_Missense_Mutation_p.E267K|PEX5_ENST00000434354.2_Missense_Mutation_p.E319K|PEX5_ENST00000420616.2_Missense_Mutation_p.E304K|PEX5_ENST00000412720.2_Missense_Mutation_p.E325K|PEX5_ENST00000266564.3_Missense_Mutation_p.E296K	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	304					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ACGGGATGCTGAGGCCCACCC	0.468																																																	0													116.0	103.0	107.0					12																	7356091		2203	4300	6503	SO:0001583	missense	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.910G>A	12.37:g.7356091G>A	ENSP00000400647:p.Glu304Lys		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E319K	ENST00000455147.2	37	c.955	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225521	0.79576	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	D;D;D;D;D;D;D	0.88431	-2.37;-2.26;-2.38;-2.37;-2.38;-2.24;-2.3	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.89354	0.6691	L	0.46157	1.445	0.80722	D	1	D;B;B;B;B	0.53745	0.962;0.032;0.415;0.046;0.012	P;B;B;B;B	0.50136	0.632;0.028;0.065;0.096;0.037	D	0.89820	0.3988	10	0.49607	T	0.09	.	17.9082	0.88926	0.0:0.0:1.0:0.0	.	325;319;304;296;267	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	K	304;267;319;255;304;325;274;296	ENSP00000400647:E304K;ENSP00000266563:E267K;ENSP00000407401:E319K;ENSP00000410159:E304K;ENSP00000391601:E325K;ENSP00000379877:E274K;ENSP00000266564:E296K	ENSP00000266563:E267K	E	+	1	0	PEX5	7247358	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	9.256000	0.95535	2.469000	0.83416	0.462000	0.41574	GAG	PEX5	-	NULL		0.468	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	G	NM_000319		7356091	+1	no_errors	ENST00000434354	ensembl	human	known	70_37	missense	SNP	1.000	A
PGAP1	80055	genome.wustl.edu	37	2	197777621	197777621	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:197777621C>T	ENST00000354764.4	-	4	748	c.634G>A	c.(634-636)Gat>Aat	p.D212N	PGAP1_ENST00000409188.1_Missense_Mutation_p.D170N|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.D212N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	212					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATGAAACGATCTAATGGCATC	0.363																																																	0													110.0	106.0	107.0					2																	197777621		2203	4300	6503	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.634G>A	2.37:g.197777621C>T	ENSP00000346809:p.Asp212Asn		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.D212N	ENST00000354764.4	37	c.634	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841128	0.91197	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	D;D;D	0.90444	-2.67;-2.67;-2.67	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.971;0.999	D	0.96687	0.9508	10	0.72032	D	0.01	-16.7316	19.0781	0.93171	0.0:1.0:0.0:0.0	.	170;212;212	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	N	212;212;170	ENSP00000346809:D212N;ENSP00000387028:D212N;ENSP00000386802:D170N	ENSP00000346809:D212N	D	-	1	0	PGAP1	197485866	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	6.886000	0.75611	2.741000	0.93983	0.650000	0.86243	GAT	PGAP1	-	pfam_PGAP1-like		0.363	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	C	NM_024989		197777621	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	1.000	T
PGCP1	441897	genome.wustl.edu	37	1	111927180	111927180	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:111927180C>T	ENST00000411951.1	-	0	568					NR_029429.1				progastricsin (pepsinogen C) pseudogene 1																		TGGCAACCCTCAGAGCACAAG	0.562																																																	0																																												441897					1p13.2	2011-01-31			ENSG00000227179	ENSG00000227179			39503	pseudogene	pseudogene							Standard	NR_029429		Approved		uc021orp.1		OTTHUMG00000011171		1.37:g.111927180C>T				RNA	SNP	-	NULL	ENST00000411951.1	37	NULL		1																																																																																			PGCP1	-	-		0.562	PGCP1-002	KNOWN	basic	processed_transcript	PGCP1	HGNC	pseudogene	OTTHUMT00000331136.1	C	NR_029429		111927180	-1	no_errors	ENST00000411951	ensembl	human	known	70_37	rna	SNP	0.937	T
PGK2	5232	genome.wustl.edu	37	6	49754286	49754286	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:49754286C>T	ENST00000304801.3	-	1	767	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	205					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GAAAGGGTCTCACTGGGTTTT	0.433																																																	0													109.0	108.0	108.0					6																	49754286		2203	4300	6503	SO:0001819	synonymous_variant	5232			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.615G>A	6.37:g.49754286C>T			B2R6Y8|Q9H107	Silent	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.V205	ENST00000304801.3	37	c.615	CCDS4930.1	6																																																																																			PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase		0.433	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	C			49754286	-1	no_errors	ENST00000304801	ensembl	human	known	70_37	silent	SNP	1.000	T
PHC2	1912	genome.wustl.edu	37	1	33833011	33833011	+	Nonsense_Mutation	SNP	G	G	A	rs543761364		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:33833011G>A	ENST00000257118.5	-	6	735	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PHC2_ENST00000419414.2_Nonsense_Mutation_p.R228*|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Nonsense_Mutation_p.R199*	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	228					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCTGTGTTCGGAGGGTCAAG	0.617											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17222	0.0		0.0	False		,,,				2504	0.0																0													82.0	102.0	95.0					1																	33833011		2175	4270	6445	SO:0001587	stop_gained	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.682C>T	1.37:g.33833011G>A	ENSP00000257118:p.Arg228*	843	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R228*	ENST00000257118.5	37	c.682	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.540961	0.97650	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4886	15.4198	0.75003	0.0:0.0:1.0:0.0	.	.	.	.	X	199;228;228	.	ENSP00000257118:R228X	R	-	1	2	PHC2	33605598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.814000	0.55643	2.702000	0.92279	0.655000	0.94253	CGA	PHC2	-	NULL		0.617	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33833011	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PHEX	5251	genome.wustl.edu	37	X	22239804	22239804	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:22239804A>G	ENST00000379374.4	+	18	2408	c.1843A>G	c.(1843-1845)Aca>Gca	p.T615A	PHEX_ENST00000537599.1_Missense_Mutation_p.T615A|PHEX_ENST00000535894.1_Missense_Mutation_p.T518A|PHEX_ENST00000418858.3_Missense_Mutation_p.T318A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	615					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAAGGAAAAAACAAAATGCAT	0.368																																																	0													103.0	98.0	100.0					X																	22239804		2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1843A>G	X.37:g.22239804A>G	ENSP00000368682:p.Thr615Ala		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T615A	ENST00000379374.4	37	c.1843	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511387	0.44660	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.96	4.73	0.59995	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.045227	0.85682	D	0.000000	T	0.59128	0.2171	N	0.12920	0.275	0.58432	D	0.999998	P;P	0.38827	0.649;0.477	B;B	0.34590	0.117;0.186	T	0.63888	-0.6535	10	0.02654	T	1	.	11.1523	0.48466	0.8603:0.0:0.0:0.1397	.	615;615	F5GXU4;P78562	.;PHEX_HUMAN	A	615;615;518;318	ENSP00000368682:T615A;ENSP00000440362:T615A;ENSP00000439418:T518A;ENSP00000443531:T318A	ENSP00000368682:T615A	T	+	1	0	PHEX	22149725	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.480000	0.66820	2.002000	0.58637	0.486000	0.48141	ACA	PHEX	-	pfam_Peptidase_M13_C		0.368	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	A	NM_000444		22239804	+1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	1.000	G
JADE1	79960	genome.wustl.edu	37	4	129776799	129776799	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:129776799C>T	ENST00000226319.6	+	7	991	c.711C>T	c.(709-711)atC>atT	p.I237I	PHF17_ENST00000452328.2_Silent_p.I225I|PHF17_ENST00000511647.1_Silent_p.I237I|PHF17_ENST00000512960.1_Silent_p.I237I|PHF17_ENST00000413543.2_Silent_p.I237I	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTTATGGAATCCTCAAGGTAC	0.478																																																	0													61.0	59.0	59.0					4																	129776799		2203	4300	6503	SO:0001819	synonymous_variant	79960																														ENST00000226319.6:c.711C>T	4.37:g.129776799C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I237	ENST00000226319.6	37	c.711	CCDS34062.1	4																																																																																			PHF17	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.478	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	C			129776799	+1	no_errors	ENST00000226319	ensembl	human	known	70_37	silent	SNP	1.000	T
PHF20L1	51105	genome.wustl.edu	37	8	133806714	133806714	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:133806714G>C	ENST00000395386.2	+	3	441	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E48Q|PHF20L1_ENST00000395376.1_Missense_Mutation_p.E48Q|PHF20L1_ENST00000395379.1_Missense_Mutation_p.E48Q|PHF20L1_ENST00000337920.4_Missense_Mutation_p.E48Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	48	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTCCATTTTGAGCGCTGGAG	0.388																																																	0													117.0	108.0	111.0					8																	133806714		2203	4300	6503	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.142G>C	8.37:g.133806714G>C	ENSP00000378784:p.Glu48Gln		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.E48Q	ENST00000395386.2	37	c.142	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698782	0.88830	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000522580;ENST00000395390	T;T;T;T;T;T;T;T	0.51071	0.72;0.74;0.76;1.34;0.72;0.77;0.75;1.36	5.91	5.91	0.95273	Tudor-like, plant (1);Tudor domain (1);	0.094893	0.64402	D	0.000001	T	0.64605	0.2613	L	0.48877	1.53	0.80722	D	1	D;P;D;D;D	0.89917	0.996;0.638;1.0;0.986;0.998	P;B;D;P;D	0.76575	0.889;0.345;0.988;0.844;0.94	T	0.62115	-0.6922	10	0.52906	T	0.07	-5.3975	19.29	0.94095	0.0:0.0:1.0:0.0	.	48;48;48;48;48	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	Q	48;48;48;48;48;48;48;6;48	ENSP00000378781:E48Q;ENSP00000378777:E48Q;ENSP00000355301:E48Q;ENSP00000378784:E48Q;ENSP00000324519:E48Q;ENSP00000338269:E48Q;ENSP00000378775:E48Q;ENSP00000378788:E48Q	ENSP00000324519:E48Q	E	+	1	0	PHF20L1	133875896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.411000	0.73298	2.799000	0.96334	0.650000	0.86243	GAG	PHF20L1	-	smart_Tudor,smart_Tudor-like_plant		0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	G	NM_016018		133806714	+1	no_errors	ENST00000315808	ensembl	human	known	70_37	missense	SNP	1.000	C
PHKA2	5256	genome.wustl.edu	37	X	18969235	18969235	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18969235C>T	ENST00000379942.4	-	4	1106	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	147					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGCGGTCATCTGGGCCAGGA	0.617																																																	0													86.0	68.0	74.0					X																	18969235		2203	4300	6503	SO:0001819	synonymous_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.441G>A	X.37:g.18969235C>T			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Q147	ENST00000379942.4	37	c.441	CCDS14190.1	X																																																																																			PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.617	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		18969235	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	silent	SNP	1.000	T
PHLDA3	23612	genome.wustl.edu	37	1	201437540	201437540	+	Silent	SNP	G	G	C	rs201117567		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:201437540G>C	ENST00000367311.3	-	1	772	c.375C>G	c.(373-375)ctC>ctG	p.L125L	PHLDA3_ENST00000367309.1_Silent_p.L125L|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	125	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TTTAGGACACGAGGGTCCCGG	0.647																																																	0													54.0	62.0	59.0					1																	201437540		2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.375C>G	1.37:g.201437540G>C			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.L125	ENST00000367311.3	37	c.375	CCDS1412.1	1																																																																																			PHLDA3	-	NULL		0.647	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437540	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	0.805	C
PI4KA	5297	genome.wustl.edu	37	22	21119958	21119958	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:21119958G>A	ENST00000572273.1	-	20	2408	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	PI4KA_ENST00000255882.6_Silent_p.I784I|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	726					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TAGCTTCTTTGATGGGTGGCA	0.517																																					GBM(136;1332 1831 3115 23601 50806)												0													98.0	92.0	94.0					22																	21119958		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2178C>T	22.37:g.21119958G>A			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.I784	ENST00000572273.1	37	c.2352		22																																																																																			PI4KA	-	superfamily_ARM-type_fold		0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		G	NM_058004		21119958	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	silent	SNP	1.000	A
PIGV	55650	genome.wustl.edu	37	1	27117354	27117354	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27117354C>T	ENST00000374145.1	+	2	730	c.48C>T	c.(46-48)gtC>gtT	p.V16V	PIGV_ENST00000449950.2_5'UTR|PIGV_ENST00000078527.4_Silent_p.V16V	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	16					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGTTTGCAGTCAGCTGCCGTA	0.547																																																	0													150.0	110.0	124.0					1																	27117354		2203	4300	6503	SO:0001819	synonymous_variant	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.48C>T	1.37:g.27117354C>T			D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	pfam_GPI_Mannosyltransferase_2-like	p.V16	ENST00000374145.1	37	c.48	CCDS287.1	1																																																																																			PIGV	-	pfam_GPI_Mannosyltransferase_2-like		0.547	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGV	HGNC	protein_coding	OTTHUMT00000011441.1	C	NM_017837		27117354	+1	no_errors	ENST00000078527	ensembl	human	known	70_37	silent	SNP	0.129	T
PIFO	128344	genome.wustl.edu	37	1	111891340	111891340	+	Intron	SNP	A	A	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:111891340A>C	ENST00000369738.4	+	4	754				PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Intron	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation						cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										TAATAAAAGAAGCACATAAAG	0.378																																																	0																																										SO:0001627	intron_variant	128344			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.389+72A>C	1.37:g.111891340A>C			D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	RNA	SNP	-	NULL	ENST00000369738.4	37	NULL	CCDS833.1	1																																																																																			PIFO	-	-		0.378	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIFO	HGNC	protein_coding	OTTHUMT00000030718.1	A	NM_181643		111891340	+1	no_errors	ENST00000484512	ensembl	human	known	70_37	rna	SNP	0.000	C
PIH1D2	120379	genome.wustl.edu	37	11	111942361	111942361	+	Nonsense_Mutation	SNP	G	G	C	rs374544297		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:111942361G>C	ENST00000280350.4	-	3	521	c.299C>G	c.(298-300)tCa>tGa	p.S100*	C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000393047.3_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000530641.1_Nonsense_Mutation_p.S100*|PIH1D2_ENST00000532211.1_Nonsense_Mutation_p.S100*|PIH1D2_ENST00000431456.1_Nonsense_Mutation_p.S100*|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000528775.1_Nonsense_Mutation_p.S100*|C11orf57_ENST00000530104.1_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	100										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATTTGTACCTGATATCTCAGT	0.373																																																	0								G	stop/SER,stop/SER	1,4401	2.1+/-5.4	0,1,2200	115.0	111.0	113.0		299,299	5.1	1.0	11		113	0,8594		0,0,4297	no	stop-gained,stop-gained	PIH1D2	NM_001082619.1,NM_138789.3	,	0,1,6497	CC,CG,GG		0.0,0.0227,0.0077	,	100/289,100/316	111942361	1,12995	2201	4297	6498	SO:0001587	stop_gained	120379			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.299C>G	11.37:g.111942361G>C	ENSP00000280350:p.Ser100*		B4DU48|E9PD82	Nonsense_Mutation	SNP	pfam_PIH	p.S100*	ENST00000280350.4	37	c.299	CCDS8355.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.10|13.10	2.137258|2.137258	0.37728|0.37728	2.27E-4|2.27E-4	0.0|0.0	ENSG00000150773|ENSG00000150773	ENST00000525072|ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T|.	0.17054|.	2.3|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.792485	.|0.11686	.|N	.|0.539397	T|.	0.66567|.	0.2802|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69083|.	-0.5239|.	5|.	0.48119|0.40728	T|T	0.1|0.16	-2.8543|-2.8543	15.5031|15.5031	0.75716|0.75716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	72|100;100;100;100;100;65	ENSP00000431336:I72M|.	ENSP00000431336:I72M|ENSP00000280350:S100X	I|S	-|-	3|2	3|0	PIH1D2|PIH1D2	111447571|111447571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.527000|0.527000	0.34593|0.34593	5.181000|5.181000	0.65054|0.65054	2.647000|2.647000	0.89833|0.89833	0.491000|0.491000	0.48974|0.48974	ATC|TCA	PIH1D2	-	pfam_PIH		0.373	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D2	HGNC	protein_coding	OTTHUMT00000391916.1	G	NM_138789		111942361	-1	no_errors	ENST00000280350	ensembl	human	known	70_37	nonsense	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	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	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PKHD1	5314	genome.wustl.edu	37	6	51712645	51712645	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51712645G>C	ENST00000371117.3	-	50	8310	c.8035C>G	c.(8035-8037)Ctt>Gtt	p.L2679V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2679V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2679					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L2679I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTGATGGAAGAAATGGAAAA	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											149.0	135.0	140.0					6																	51712645		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8035C>G	6.37:g.51712645G>C	ENSP00000360158:p.Leu2679Val		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2679V	ENST00000371117.3	37	c.8035	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	4.323	0.059255	0.08339	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.02;-2.22	5.47	4.58	0.56647	.	0.567197	0.16951	N	0.192881	T	0.69949	0.3168	L	0.50333	1.59	0.09310	N	1	B;B;B	0.26195	0.11;0.023;0.144	B;B;B	0.22601	0.03;0.04;0.022	T	0.55451	-0.8139	10	0.12103	T	0.63	.	11.3979	0.49854	0.0738:0.1292:0.797:0.0	.	2679;2679;2679	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2679	ENSP00000360158:L2679V;ENSP00000341097:L2679V	ENSP00000341097:L2679V	L	-	1	0	PKHD1	51820604	0.397000	0.25270	0.361000	0.25849	0.121000	0.20230	2.197000	0.42696	2.720000	0.93068	0.650000	0.86243	CTT	PKHD1	-	NULL		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51712645	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.042	C
PKHD1	5314	genome.wustl.edu	37	6	51735351	51735351	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51735351G>A	ENST00000371117.3	-	47	7712	c.7437C>T	c.(7435-7437)ctC>ctT	p.L2479L	PKHD1_ENST00000340994.4_Silent_p.L2479L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2479					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAGTTGATGAGATCAAAAT	0.373																																																	0													148.0	139.0	142.0					6																	51735351		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7437C>T	6.37:g.51735351G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2479	ENST00000371117.3	37	c.7437	CCDS4935.1	6																																																																																			PKHD1	-	smart_PbH1		0.373	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51735351	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.000	A
PKHD1	5314	genome.wustl.edu	37	6	51751999	51751999	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51751999G>C	ENST00000371117.3	-	44	7316	c.7041C>G	c.(7039-7041)ctC>ctG	p.L2347L	PKHD1_ENST00000340994.4_Silent_p.L2347L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2347					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTTGGTCATGAGATGGAAAA	0.413																																																	0													127.0	113.0	118.0					6																	51751999		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7041C>G	6.37:g.51751999G>C			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2347	ENST00000371117.3	37	c.7041	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51751999	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.989	C
PKHD1	5314	genome.wustl.edu	37	6	51907736	51907736	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:51907736G>T	ENST00000371117.3	-	27	3293	c.3018C>A	c.(3016-3018)atC>atA	p.I1006I	PKHD1_ENST00000340994.4_Silent_p.I1006I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1006	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGTGGCACTGATGGCAAGAC	0.478																																																	0													111.0	107.0	108.0					6																	51907736		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3018C>A	6.37:g.51907736G>T			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.I1006	ENST00000371117.3	37	c.3018	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Ig_E-set		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51907736	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.027	T
PKP2	5318	genome.wustl.edu	37	12	32996150	32996150	+	Silent	SNP	C	C	A	rs140301552		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:32996150C>A	ENST00000070846.6	-	6	1500	c.1476G>T	c.(1474-1476)acG>acT	p.T492T	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	492					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctcctgacctcgtgatccgcc	0.547																																																	0													24.0	24.0	24.0					12																	32996150		2200	4294	6494	SO:0001819	synonymous_variant	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1476G>T	12.37:g.32996150C>A			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T492	ENST00000070846.6	37	c.1476	CCDS8731.1	12																																																																																			PKP2	-	superfamily_ARM-type_fold		0.547	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	C	NM_004572		32996150	-1	no_errors	ENST00000070846	ensembl	human	known	70_37	silent	SNP	0.001	A
PLAC9	219348	genome.wustl.edu	37	10	81904097	81904098	+	In_Frame_Ins	INS	-	-	AGA	rs368889684|rs149506488|rs71482765	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:81904097_81904098insAGA	ENST00000372263.3	+	3	323_324	c.281_282insAGA	c.(280-285)ggagat>ggAGAagat	p.94_95GD>GED	PLAC9_ENST00000372267.2_Intron|PLAC9_ENST00000372270.2_In_Frame_Ins_p.52_53GD>GED	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	94						extracellular region (GO:0005576)				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			GACCTTCTCGGAGGTGAGCAGT	0.678											OREG0020321	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103	0.0205671	0.0227	0.0173	5008	,	,		12770	0.0		0.0338	False		,,,				2504	0.0276																0										91,4169		2,87,2041						0.8	0.0		dbSNP_130	18	352,7896		6,340,3778	no	coding-near-splice	PLAC9	NM_001012973.1		8,427,5819	A1A1,A1R,RR		4.2677,2.1362,3.5417				443,12065				SO:0001652	inframe_insertion	219348				CCDS31232.1	10q23.2	2008-02-04			ENSG00000189129	ENSG00000189129			19255	protein-coding gene	gene with protein product		612857					Standard	NM_001012973		Approved		uc001kbp.1	Q5JTB6	OTTHUMG00000018596	ENST00000372263.3:c.282_284dupAGA	10.37:g.81904097_81904098insAGA	ENSP00000361337:p.Gly94_Asp95insGlu	1209		In_Frame_Ins	INS	NULL	p.95in_frame_insE	ENST00000372263.3	37	c.281_282	CCDS31232.1	10																																																																																			PLAC9	-	NULL		0.678	PLAC9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLAC9	HGNC	protein_coding	OTTHUMT00000049019.1	-	NM_001012973		81904098	+1	no_errors	ENST00000372263	ensembl	human	known	70_37	in_frame_ins	INS	0.062:0.007	AGA
PLCD4	84812	genome.wustl.edu	37	2	219494347	219494347	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:219494347C>G	ENST00000450993.2	+	8	1419	c.1080C>G	c.(1078-1080)ttC>ttG	p.F360L	PLCD4_ENST00000417849.1_Missense_Mutation_p.F360L|PLCD4_ENST00000432688.1_Missense_Mutation_p.F360L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	360	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCATCCTGTTCAAAGATGTCG	0.597																																																	0													62.0	65.0	64.0					2																	219494347		2090	4212	6302	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1080C>G	2.37:g.219494347C>G	ENSP00000388631:p.Phe360Leu		Q53FS8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F360L	ENST00000450993.2	37	c.1080	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293674	0.80914	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.66995	-0.24;-0.24;-0.24	5.09	5.09	0.68999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	L	0.59967	1.855	0.43347	D	0.995406	P	0.47841	0.901	P	0.51453	0.67	T	0.73190	-0.4061	10	0.59425	D	0.04	.	12.7087	0.57078	0.0:0.9201:0.0:0.0799	.	360	Q9BRC7	PLCD4_HUMAN	L	360	ENSP00000388631:F360L;ENSP00000396942:F360L;ENSP00000396185:F360L	ENSP00000251959:F360L	F	+	3	2	PLCD4	219202591	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.241000	0.32743	2.657000	0.90304	0.491000	0.48974	TTC	PLCD4	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.597	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	C			219494347	+1	no_errors	ENST00000417849	ensembl	human	known	70_37	missense	SNP	1.000	G
PLCE1	51196	genome.wustl.edu	37	10	95931118	95931118	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:95931118C>G	ENST00000371380.3	+	3	1909	c.1674C>G	c.(1672-1674)ttC>ttG	p.F558L	PLCE1_ENST00000371375.1_Missense_Mutation_p.F250L|PLCE1_ENST00000371385.3_Missense_Mutation_p.F250L|PLCE1_ENST00000260766.3_Missense_Mutation_p.F558L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	558	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCTTTGCTTCTTAACACGGG	0.537																																																	0													145.0	146.0	146.0					10																	95931118		2041	4190	6231	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1674C>G	10.37:g.95931118C>G	ENSP00000360431:p.Phe558Leu		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.F558L	ENST00000371380.3	37	c.1674	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323399	0.81580	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.84	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.125962	0.53938	D	0.000051	T	0.49184	0.1542	L	0.54323	1.7	0.40040	D	0.975631	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.99;0.992	T	0.50972	-0.8764	10	0.56958	D	0.05	.	12.5222	0.56067	0.0:0.8632:0.0:0.1368	.	558;250;558	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	558;558;250;250	ENSP00000260766:F558L;ENSP00000360431:F558L;ENSP00000360438:F250L;ENSP00000360426:F250L	ENSP00000260766:F558L	F	+	3	2	PLCE1	95921108	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.199000	0.32235	1.472000	0.48140	0.655000	0.94253	TTC	PLCE1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.537	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95931118	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	G
PLCL2	23228	genome.wustl.edu	37	3	17052159	17052159	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:17052159C>T	ENST00000418129.2	+	2	1408	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.H315Y|PLCL2_ENST00000396755.2_Missense_Mutation_p.H315Y	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	441					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAACTCATCTCATAATACATA	0.388																																																	0													110.0	122.0	118.0					3																	17052159		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.943C>T	3.37:g.17052159C>T	ENSP00000409637:p.His315Tyr		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.H315Y	ENST00000418129.2	37	c.943	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844224	0.32606	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.65916	-0.18;-0.18;-0.18	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.089379	0.85682	D	0.000000	T	0.70037	0.3178	.	.	.	0.80722	D	1	P	0.43701	0.815	P	0.47015	0.534	T	0.70722	-0.4794	9	0.59425	D	0.04	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	441	Q9UPR0	PLCL2_HUMAN	Y	315;442;315;315	ENSP00000409637:H315Y;ENSP00000379979:H315Y;ENSP00000412836:H315Y	ENSP00000285094:H442Y	H	+	1	0	PLCL2	17027163	1.000000	0.71417	0.996000	0.52242	0.232000	0.25224	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CAT	PLCL2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C		0.388	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	C			17052159	+1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHH2	130271	genome.wustl.edu	37	2	43958683	43958683	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:43958683C>A	ENST00000282406.4	+	19	2995	c.2885C>A	c.(2884-2886)tCc>tAc	p.S962Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	962	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGAATCATTTCCCCTCTGACA	0.338																																																	0													103.0	104.0	104.0					2																	43958683		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2885C>A	2.37:g.43958683C>A	ENSP00000282406:p.Ser962Tyr		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S962Y	ENST00000282406.4	37	c.2885	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722225	0.30503	.	.	ENSG00000152527	ENST00000282406	T	0.74632	-0.86	5.61	4.72	0.59763	MyTH4 domain (2);	0.163706	0.56097	D	0.000034	T	0.70902	0.3277	L	0.48362	1.52	0.44454	D	0.997387	B;P	0.45474	0.003;0.859	B;B	0.43701	0.017;0.428	T	0.68580	-0.5371	10	0.23891	T	0.37	-7.7161	16.7266	0.85423	0.0:0.7581:0.2419:0.0	.	962;399	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Y	962	ENSP00000282406:S962Y	ENSP00000282406:S962Y	S	+	2	0	PLEKHH2	43812187	0.827000	0.29292	0.676000	0.29932	0.947000	0.59692	1.779000	0.38624	1.475000	0.48197	0.655000	0.94253	TCC	PLEKHH2	-	smart_MyTH4_dom,pfscan_MyTH4_dom		0.338	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	C	NM_172069		43958683	+1	no_errors	ENST00000282406	ensembl	human	known	70_37	missense	SNP	0.950	A
PNPLA7	375775	genome.wustl.edu	37	9	140400156	140400156	+	Silent	SNP	C	C	T	rs147554482		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:140400156C>T	ENST00000277531.4	-	13	1494	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	PNPLA7_ENST00000406427.1_Silent_p.E461E|PNPLA7_ENST00000371457.1_Silent_p.E42E	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	436				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.S435fs(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGTGTGACTCTCTGAGTGCT	0.562																																																	2	Complex(2)	central_nervous_system(2)											172.0	153.0	159.0					9																	140400156		2203	4300	6503	SO:0001819	synonymous_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1308G>A	9.37:g.140400156C>T			B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E461	ENST00000277531.4	37	c.1383	CCDS7045.1	9																																																																																			PNPLA7	-	NULL		0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	C	NM_152286		140400156	-1	no_errors	ENST00000406427	ensembl	human	known	70_37	silent	SNP	0.002	T
PNPLA8	50640	genome.wustl.edu	37	7	108154978	108154978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:108154978G>A	ENST00000422087.1	-	4	1364	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000426128.2_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000453144.1_Nonsense_Mutation_p.Q220*|PNPLA8_ENST00000436062.1_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000388728.5_Nonsense_Mutation_p.Q320*	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	320					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCTTCTGACTGACTCTTTGAA	0.423																																																	0													111.0	111.0	111.0					7																	108154978		2203	4300	6503	SO:0001587	stop_gained	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.958C>T	7.37:g.108154978G>A	ENSP00000410804:p.Gln320*		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Nonsense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.Q320*	ENST00000422087.1	37	c.958	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.162111	0.97338	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	.	.	.	4.5	3.59	0.41128	.	0.859098	0.10445	N	0.673760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.5597	0.45138	0.0:0.0:0.5325:0.4675	.	.	.	.	X	320;320;320;320;220;320;220	.	ENSP00000257694:Q320X	Q	-	1	0	PNPLA8	107942214	0.846000	0.29590	0.749000	0.31150	0.673000	0.39480	1.898000	0.39809	1.206000	0.43276	0.591000	0.81541	CAG	PNPLA8	-	NULL		0.423	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	G	NM_015723		108154978	-1	no_errors	ENST00000257694	ensembl	human	known	70_37	nonsense	SNP	0.366	A
PNPT1	87178	genome.wustl.edu	37	2	55883471	55883471	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:55883471G>A	ENST00000447944.2	-	16	1406	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	440					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTAAACCAGTGACTTTGCCAA	0.294																																																	0													95.0	99.0	97.0					2																	55883471		2203	4299	6502	SO:0001819	synonymous_variant	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1320C>T	2.37:g.55883471G>A			Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.V440	ENST00000447944.2	37	c.1320	CCDS1856.1	2																																																																																			PNPT1	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase		0.294	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	G	NM_033109		55883471	-1	no_errors	ENST00000415374	ensembl	human	known	70_37	silent	SNP	0.951	A
POC1A	25886	genome.wustl.edu	37	3	52159161	52159161	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:52159161C>T	ENST00000296484.2	-	8	889	c.850G>A	c.(850-852)Gag>Aag	p.E284K	POC1A_ENST00000394970.2_Missense_Mutation_p.E284K|POC1A_ENST00000474012.1_Missense_Mutation_p.E246K	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	284					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GCAAAATACTCCCCCGTTCTT	0.433																																																	0													134.0	125.0	128.0					3																	52159161		2203	4300	6503	SO:0001583	missense	25886			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.850G>A	3.37:g.52159161C>T	ENSP00000296484:p.Glu284Lys		A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E284K	ENST00000296484.2	37	c.850	CCDS2846.1	3	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044518	0.55110	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.59224	0.28;0.28;0.28	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.268987	0.42053	D	0.000763	T	0.35038	0.0918	N	0.04686	-0.185	0.40981	D	0.984775	B;B	0.30763	0.029;0.294	B;B	0.31101	0.01;0.124	T	0.29058	-1.0024	10	0.23891	T	0.37	.	13.1014	0.59222	0.0:1.0:0.0:0.0	.	284;284	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	K	284;284;246	ENSP00000296484:E284K;ENSP00000378421:E284K;ENSP00000418968:E246K	ENSP00000296484:E284K	E	-	1	0	POC1A	52134201	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.090000	0.50191	2.463000	0.83235	0.561000	0.74099	GAG	POC1A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.433	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1A	HGNC	protein_coding	OTTHUMT00000349685.1	C	NM_015426		52159161	-1	no_errors	ENST00000296484	ensembl	human	known	70_37	missense	SNP	0.997	T
POLQ	10721	genome.wustl.edu	37	3	121263718	121263718	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:121263718C>G	ENST00000264233.5	-	2	327	c.199G>C	c.(199-201)Gac>Cac	p.D67H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	67					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTAGCTTGTCTCTTTCGTAG	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													97.0	94.0	95.0					3																	121263718		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.199G>C	3.37:g.121263718C>G	ENSP00000264233:p.Asp67His		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.D67H	ENST00000264233.5	37	c.199	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904150	0.72754	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.56103	0.48	5.68	5.68	0.88126	.	0.043480	0.85682	D	0.000000	T	0.53932	0.1827	L	0.58101	1.795	0.58432	D	0.999998	B	0.29936	0.262	B	0.29524	0.103	T	0.53194	-0.8473	10	0.51188	T	0.08	.	19.7786	0.96409	0.0:1.0:0.0:0.0	.	67	O75417	DPOLQ_HUMAN	H	67;202	ENSP00000264233:D67H	ENSP00000264233:D67H	D	-	1	0	POLQ	122746408	1.000000	0.71417	0.984000	0.44739	0.450000	0.32258	7.433000	0.80362	2.670000	0.90874	0.557000	0.71058	GAC	POLQ	-	NULL		0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121263718	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	G
POLR2M	81488	genome.wustl.edu	37	15	57999317	57999317	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:57999317G>A	ENST00000299638.3	+	1	327				POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000587652.1_Intron|POLR2M_ENST00000380557.4_Intron|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000484300.1_Intron	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M						maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TGCTGCGGCAGAGCCGTGCCT	0.607																																																	0													7.0	10.0	9.0					15																	57999317		1277	2261	3538	SO:0001627	intron_variant	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.113+164G>A	15.37:g.57999317G>A			Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	RNA	SNP	-	NULL	ENST00000299638.3	37	NULL	CCDS32252.1	15																																																																																			POLR2M	-	-		0.607	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2M	HGNC	protein_coding	OTTHUMT00000255719.2	G			57999317	+1	no_errors	ENST00000464308	ensembl	human	known	70_37	rna	SNP	0.000	A
PON2	5445	genome.wustl.edu	37	7	95041658	95041658	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:95041658G>C	ENST00000222572.3	-	4	579	c.333C>G	c.(331-333)ttC>ttG	p.F111L	PON2_ENST00000536183.1_Missense_Mutation_p.F132L|PON2_ENST00000433091.2_Missense_Mutation_p.F111L|PON2_ENST00000483292.1_5'Flank			Q15165	PON2_HUMAN	paraoxonase 2	111					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGTGGATTGAATGAGGCCA	0.418																																					GBM(42;803 823 13649 23368 31463)												0													218.0	184.0	196.0					7																	95041658		2203	4300	6503	SO:0001583	missense	5445			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.333C>G	7.37:g.95041658G>C	ENSP00000222572:p.Phe111Leu		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.F132L	ENST00000222572.3	37	c.396	CCDS5640.1	7	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369968	0.42003	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.41065	3.65;1.01;3.65	4.78	-0.489	0.12052	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.62088	1.915	0.52501	D	0.999959	P;P	0.38078	0.617;0.617	B;B	0.34991	0.148;0.193	T	0.04216	-1.0968	10	0.26408	T	0.33	-8.9596	5.1064	0.14787	0.5461:0.0:0.3266:0.1273	.	111;111	A4D1H7;Q15165	.;PON2_HUMAN	L	132;109;111;111	ENSP00000440282:F132L;ENSP00000404622:F111L;ENSP00000222572:F111L	ENSP00000222572:F111L	F	-	3	2	PON2	94879594	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	0.895000	0.28363	-0.151000	0.11176	-0.367000	0.07326	TTC	PON2	-	NULL		0.418	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1	G	NM_000305		95041658	-1	no_errors	ENST00000536183	ensembl	human	known	70_37	missense	SNP	0.998	C
PPARA	5465	genome.wustl.edu	37	22	46631032	46631032	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:46631032C>T	ENST00000396000.2	+	8	1427	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	PPARA_ENST00000402126.1_Missense_Mutation_p.R388C|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Missense_Mutation_p.R388C|PPARA_ENST00000262735.5_Missense_Mutation_p.R388C			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	388	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GAGACTAGATCGTCCTGGCCT	0.448																																																	0													92.0	82.0	85.0					22																	46631032		2203	4300	6503	SO:0001583	missense	5465			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.1162C>T	22.37:g.46631032C>T	ENSP00000379322:p.Arg388Cys		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	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_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R388C	ENST00000396000.2	37	c.1162	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487247	0.84854	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.02	5.02	0.67125	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055100	0.85682	D	0.000000	D	0.86859	0.6034	M	0.90082	3.085	0.80722	D	1	D	0.54397	0.966	P	0.57283	0.817	D	0.89586	0.3824	10	0.72032	D	0.01	.	17.504	0.87739	0.0:1.0:0.0:0.0	.	388	Q07869	PPARA_HUMAN	C	388	ENSP00000379322:R388C;ENSP00000262735:R388C;ENSP00000385523:R388C;ENSP00000385246:R388C	ENSP00000262735:R388C	R	+	1	0	PPARA	45009696	1.000000	0.71417	0.930000	0.37139	0.436000	0.31835	7.475000	0.81041	2.623000	0.88846	0.563000	0.77884	CGT	PPARA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.448	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	C	NM_001001928		46631032	+1	no_errors	ENST00000262735	ensembl	human	known	70_37	missense	SNP	1.000	T
PPBP	5473	genome.wustl.edu	37	4	74853301	74853301	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:74853301G>A	ENST00000296028.3	-	2	310	c.217C>T	c.(217-219)Cat>Tat	p.H73Y		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	73					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTTTTGGGATGAATTCCAGAG	0.428																																																	0													123.0	115.0	118.0					4																	74853301		2203	4300	6503	SO:0001583	missense	5473			M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.217C>T	4.37:g.74853301G>A	ENSP00000296028:p.His73Tyr		B2R5F3|Q6IBJ8	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.H73Y	ENST00000296028.3	37	c.217	CCDS3563.1	4	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059191	0.55325	.	.	ENSG00000163736	ENST00000296028	T	0.05081	3.5	2.8	2.8	0.32819	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.274556	0.29286	N	0.012599	T	0.21881	0.0527	M	0.83953	2.67	0.09310	N	1	D	0.69078	0.997	D	0.67231	0.95	T	0.01330	-1.1383	10	0.62326	D	0.03	-0.0547	9.1346	0.36866	0.0:0.0:1.0:0.0	.	73	P02775	CXCL7_HUMAN	Y	73	ENSP00000296028:H73Y	ENSP00000296028:H73Y	H	-	1	0	PPBP	75072165	0.016000	0.18221	0.004000	0.12327	0.604000	0.37047	1.146000	0.31589	1.560000	0.49568	0.305000	0.20034	CAT	PPBP	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8		0.428	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPBP	HGNC	protein_coding	OTTHUMT00000252281.2	G	NM_002704		74853301	-1	no_errors	ENST00000296028	ensembl	human	known	70_37	missense	SNP	0.007	A
PPEF1	5475	genome.wustl.edu	37	X	18845465	18845465	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:18845465G>C	ENST00000361511.4	+	19	2316	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.D546H|PPEF1_ENST00000359763.6_Missense_Mutation_p.D555H|PPEF1_ENST00000544635.1_Missense_Mutation_p.D543H	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	608	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCACATTGATGATTCCCAAGT	0.368																																																	0													144.0	129.0	134.0					X																	18845465		2203	4300	6503	SO:0001583	missense	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1822G>C	X.37:g.18845465G>C	ENSP00000354871:p.Asp608His		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.D608H	ENST00000361511.4	37	c.1822	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212440	0.39102	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.52	5.52	0.82312	EF-hand-like domain (1);	0.104471	0.41294	D	0.000909	D	0.85199	0.5642	M	0.71296	2.17	0.47276	D	0.999374	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.943;0.981;0.943	D	0.85379	0.1118	10	0.46703	T	0.11	-15.3915	17.1066	0.86665	0.0:0.0:1.0:0.0	.	546;608;580	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	H	608;555;546;543;70	ENSP00000354871:D608H;ENSP00000352806:D555H;ENSP00000341892:D546H;ENSP00000441289:D543H;ENSP00000419273:D70H	ENSP00000341892:D546H	D	+	1	0	PPEF1	18755386	1.000000	0.71417	0.899000	0.35326	0.063000	0.16089	7.011000	0.76359	2.304000	0.77564	0.594000	0.82650	GAT	PPEF1	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2		0.368	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	G	NM_006240		18845465	+1	no_errors	ENST00000361511	ensembl	human	known	70_37	missense	SNP	1.000	C
PPM1F	9647	genome.wustl.edu	37	22	22287817	22287817	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:22287817G>C	ENST00000263212.5	-	5	798	c.693C>G	c.(691-693)ctC>ctG	p.L231L	PPM1F_ENST00000397495.4_Silent_p.L231L|PPM1F_ENST00000407142.1_Silent_p.L63L|PPM1F_ENST00000538191.1_Silent_p.L127L	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	231					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGGCTTCTCTGAGGGCTCCCT	0.647																																																	0													60.0	55.0	57.0					22																	22287817		2203	4300	6503	SO:0001819	synonymous_variant	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.693C>G	22.37:g.22287817G>C			A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L231	ENST00000263212.5	37	c.693	CCDS13796.1	22																																																																																			PPM1F	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.647	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	G	NM_014634		22287817	-1	no_errors	ENST00000263212	ensembl	human	known	70_37	silent	SNP	0.000	C
PPP1R12A	4659	genome.wustl.edu	37	12	80187678	80187678	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:80187678C>G	ENST00000450142.2	-	19	2880	c.2614G>C	c.(2614-2616)Gac>Cac	p.D872H	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D872H|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D816H|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.D785H|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D872H	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	872					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTTCTGTGTCTGATTGTTGT	0.234																																																	0													111.0	103.0	106.0					12																	80187678		1793	4061	5854	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2614G>C	12.37:g.80187678C>G	ENSP00000389168:p.Asp872His		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D872H	ENST00000450142.2	37	c.2614	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.298500|4.298500	0.81025|0.81025	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107|ENST00000550299	T;T;T;T;T|.	0.39997|.	1.07;1.07;1.05;1.1;1.05|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.044088|.	0.85682|.	D|.	0.000000|.	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.998;0.998;0.995|.	T|T	0.71122|0.71122	-0.4684|-0.4684	10|5	0.54805|.	T|.	0.06|.	.|.	19.8252|19.8252	0.96614|0.96614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	872;816;872|.	O14974-2;O14974-3;O14974|.	.;.;MYPT1_HUMAN|.	H|H	872;872;872;816;813;872;872;785;816|54	ENSP00000261207:D872H;ENSP00000389168:D872H;ENSP00000416769:D872H;ENSP00000449514:D785H;ENSP00000446855:D816H|.	ENSP00000261207:D872H|.	D|Q	-|-	1|3	0|2	PPP1R12A|PPP1R12A	78711809|78711809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	6.746000|6.746000	0.74866|0.74866	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAC|CAG	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.234	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	C	NM_002480		80187678	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R26	9858	genome.wustl.edu	37	9	138379815	138379815	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:138379815G>C	ENST00000356818.2	+	4	4008	c.3459G>C	c.(3457-3459)ctG>ctC	p.L1153L	PPP1R26_ENST00000604351.1_Silent_p.L1153L|PPP1R26_ENST00000401470.3_Silent_p.L1153L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.L1153L|PPP1R26_ENST00000605286.1_Silent_p.L1153L	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1153					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGGCAGGGCTGAGTTTGCATG	0.622																																																	0													36.0	31.0	33.0					9																	138379815		2203	4300	6503	SO:0001819	synonymous_variant	9858			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3459G>C	9.37:g.138379815G>C			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.L1153	ENST00000356818.2	37	c.3459	CCDS6988.1	9																																																																																			PPP1R26	-	NULL		0.622	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	G	NM_014811		138379815	+1	no_errors	ENST00000356818	ensembl	human	known	70_37	silent	SNP	0.000	C
PPP2R2B	5521	genome.wustl.edu	37	5	146070736	146070736	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:146070736A>C	ENST00000394413.3	-	4	972	c.402T>G	c.(400-402)gaT>gaG	p.D134E	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D134E|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D200E|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D192E|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D140E|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D123E|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D134E|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D134E|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D137E|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D123E			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	134					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCCTCCTCATCTTTCAGAT	0.537																																																	0													100.0	107.0	105.0					5																	146070736		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.402T>G	5.37:g.146070736A>C	ENSP00000377935:p.Asp134Glu		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.D200E	ENST00000394413.3	37	c.600	CCDS4284.1	5	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868620	0.51588	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.73469	-0.74;-0.74;1.56;-0.74;-0.74;-0.74;-0.74;-0.75;-0.74;1.56	5.85	5.85	0.93711	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	N	0.20881	0.62	0.80722	D	1	B;B;B;B;B;B	0.13145	0.003;0.005;0.005;0.007;0.006;0.002	B;B;B;B;B;B	0.15052	0.011;0.012;0.007;0.011;0.008;0.012	T	0.57294	-0.7836	10	0.17369	T	0.5	-6.9284	16.2303	0.82332	1.0:0.0:0.0:0.0	.	192;140;123;200;137;134	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	E	134;123;200;134;134;134;123;137;140;192	ENSP00000377935:D134E;ENSP00000431320:D123E;ENSP00000377936:D200E;ENSP00000377933:D134E;ENSP00000349283:D134E;ENSP00000398779:D134E;ENSP00000377932:D123E;ENSP00000336591:D137E;ENSP00000421396:D140E;ENSP00000377931:D192E	ENSP00000336591:D137E	D	-	3	2	AC011357.1	146050929	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.313000	0.33585	2.233000	0.73108	0.533000	0.62120	GAT	PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.537	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	A	NM_181678		146070736	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP2R2B	5521	genome.wustl.edu	37	5	146070742	146070742	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:146070742C>T	ENST00000394413.3	-	4	966	c.396G>A	c.(394-396)ctG>ctA	p.L132L	PPP2R2B_ENST00000453001.1_Silent_p.L132L|PPP2R2B_ENST00000394414.1_Silent_p.L198L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Silent_p.L190L|PPP2R2B_ENST00000504198.1_Silent_p.L138L|PPP2R2B_ENST00000508545.2_Silent_p.L121L|PPP2R2B_ENST00000394411.4_Silent_p.L132L|PPP2R2B_ENST00000356826.3_Silent_p.L132L|PPP2R2B_ENST00000336640.6_Silent_p.L135L|PPP2R2B_ENST00000394410.2_Silent_p.L121L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	132					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCATCTTTCAGATTGTAGC	0.537																																																	0													102.0	109.0	107.0					5																	146070742		2203	4300	6503	SO:0001819	synonymous_variant	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.396G>A	5.37:g.146070742C>T			A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L198	ENST00000394413.3	37	c.594	CCDS4284.1	5																																																																																			PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.537	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	C	NM_181678		146070742	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	silent	SNP	1.000	T
PPP3CB	5532	genome.wustl.edu	37	10	75198056	75198056	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:75198056G>A	ENST00000360663.5	-	14	1630	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	PPP3CB_ENST00000394829.2_Silent_p.L508L|PPP3CB_ENST00000394828.2_Silent_p.L498L|PPP3CB_ENST00000544628.1_Silent_p.L135L			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	507					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)					GCGGTGTTCAGAGAATTGAAA	0.507																																																	0													173.0	146.0	155.0					10																	75198056		2203	4300	6503	SO:0001819	synonymous_variant	5532			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.1519C>T	10.37:g.75198056G>A			P16299|Q5F2F9|Q8N1F0|Q8N3W4	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L508	ENST00000360663.5	37	c.1522	CCDS7328.1	10																																																																																			PPP3CB	-	NULL		0.507	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	G	NM_021132		75198056	-1	no_errors	ENST00000394829	ensembl	human	known	70_37	silent	SNP	1.000	A
PRAMEF1	65121	genome.wustl.edu	37	1	12855773	12855773	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12855773C>G	ENST00000332296.7	+	4	1156	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	PRAMEF1_ENST00000400814.3_Silent_p.L106L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCTCTCAAAACCCTCA	0.552																																																	0													195.0	194.0	194.0					1																	12855773		2203	4300	6503	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1053C>G	1.37:g.12855773C>G			Q9UQP2	Silent	SNP	NULL	p.L351	ENST00000332296.7	37	c.1053	CCDS148.1	1																																																																																			PRAMEF1	-	NULL		0.552	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	C	NM_023013		12855773	+1	no_errors	ENST00000332296	ensembl	human	known	70_37	silent	SNP	0.000	G
PRAMEF7	441871	genome.wustl.edu	37	1	12979845	12979845	+	Missense_Mutation	SNP	T	T	C	rs1890765	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12979845T>C	ENST00000361079.2	+	4	1120	c.1037T>C	c.(1036-1038)gTt>gCt	p.V346A	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	346					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCAAGTTGTGGCCACC	0.602																																																	0								T	ALA/VAL	379,4021		0,379,1821	52.0	48.0	49.0		1037	-0.9	0.0	1	dbSNP_134	49	1970,6602		26,1918,2342	no	missense	PRAMEF7	NM_001012277.1	64	26,2297,4163	CC,CT,TT		22.9818,8.6136,18.1082	benign	346/475	12979845	2349,10623	2200	4286	6486	SO:0001583	missense	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1037T>C	1.37:g.12979845T>C	ENSP00000354371:p.Val346Ala		B9EIP0	Missense_Mutation	SNP	NULL	p.V346A	ENST00000361079.2	37	c.1037	CCDS30593.1	1	.	.	.	.	.	.	.	.	.	.	.	2.115	-0.402770	0.04865	0.086136	0.229818	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.14893	2.47;2.47	1.68	-0.877	0.10621	.	0.876931	0.09824	N	0.751126	T	0.00012	0.0000	L	0.42008	1.315	0.09310	N	1	B	0.20261	0.043	B	0.21360	0.034	T	0.41645	-0.9497	10	0.44086	T	0.13	.	5.3826	0.16199	0.0:0.3266:0.0:0.6734	.	346	Q5VXH5	PRAM7_HUMAN	A	346	ENSP00000354371:V346A;ENSP00000328915:V346A	ENSP00000328915:V346A	V	+	2	0	PRAMEF7	12902432	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.068000	0.14531	-0.242000	0.09667	-0.850000	0.03035	GTT	PRAMEF7	-	NULL		0.602	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		T	NM_001012277		12979845	+1	no_errors	ENST00000330881	ensembl	human	known	70_37	missense	SNP	0.001	C
PRC1	9055	genome.wustl.edu	37	15	91522427	91522427	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:91522427C>G	ENST00000361188.5	-	8	2279	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.Q315H|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.Q356H|PRC1_ENST00000394249.3_Missense_Mutation_p.Q356H					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTCCCACTTCTGGACACCTT	0.418																																																	0													110.0	112.0	111.0					15																	91522427		2198	4298	6496	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1068G>C	15.37:g.91522427C>G	ENSP00000354679:p.Gln356His			Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.Q356H	ENST00000361188.5	37	c.1068	CCDS45352.1	15	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955145	0.34471	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.55	1.36	0.22044	.	0.434279	0.28549	N	0.014942	T	0.18923	0.0454	N	0.25890	0.77	0.40070	D	0.976005	B;B;B;B	0.19583	0.03;0.03;0.002;0.037	B;B;B;B	0.19946	0.026;0.016;0.008;0.027	T	0.05632	-1.0873	10	0.42905	T	0.14	.	7.5142	0.27592	0.1214:0.3396:0.4724:0.0666	.	315;356;356;356	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	H	356;356;356;315	ENSP00000377793:Q356H;ENSP00000354618:Q356H;ENSP00000354679:Q356H;ENSP00000409549:Q315H	ENSP00000354679:Q356H	Q	-	3	2	PRC1	89323431	0.882000	0.30256	0.993000	0.49108	0.967000	0.64934	-0.109000	0.10840	0.096000	0.17463	0.655000	0.94253	CAG	PRC1	-	pfam_MAP65_Ase1_PRC1		0.418	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	HGNC	protein_coding	OTTHUMT00000414760.1	C	NM_003981		91522427	-1	no_errors	ENST00000394249	ensembl	human	known	70_37	missense	SNP	0.998	G
PRDM15	63977	genome.wustl.edu	37	21	43223066	43223066	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:43223066C>T	ENST00000269844.3	-	30	3957	c.3847G>A	c.(3847-3849)Gag>Aag	p.E1283K	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.E974K|PRDM15_ENST00000398548.1_Missense_Mutation_p.E954K|PRDM15_ENST00000538201.1_Missense_Mutation_p.E937K|PRDM15_ENST00000447207.2_Missense_Mutation_p.E917K	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCCTCCTGCTCCAGAGTCAGC	0.612																																																	0													107.0	118.0	114.0					21																	43223066		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3847G>A	21.37:g.43223066C>T	ENSP00000269844:p.Glu1283Lys		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E1283K	ENST00000269844.3	37	c.3847	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	33	5.221532	0.95139	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08720	3.16;3.15;3.14;3.13;3.06	4.9	4.9	0.64082	.	.	.	.	.	T	0.12178	0.0296	L	0.27053	0.805	0.51767	D	0.99993	P;B;D	0.58268	0.89;0.18;0.982	B;B;P	0.51266	0.318;0.094;0.664	T	0.05500	-1.0881	9	0.46703	T	0.11	-26.6435	17.092	0.86624	0.0:1.0:0.0:0.0	.	1283;974;954	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	K	974;954;937;917;1283	ENSP00000408592:E974K;ENSP00000381556:E954K;ENSP00000444044:E937K;ENSP00000390245:E917K;ENSP00000269844:E1283K	ENSP00000269844:E1283K	E	-	1	0	PRDM15	42096135	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	5.322000	0.65852	2.266000	0.75297	0.479000	0.44913	GAG	PRDM15	-	NULL		0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		C	NM_022115		43223066	-1	no_errors	ENST00000269844	ensembl	human	known	70_37	missense	SNP	1.000	T
PRDM2	7799	genome.wustl.edu	37	1	14107618	14107618	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:14107618C>G	ENST00000235372.7	+	8	4184	c.3328C>G	c.(3328-3330)Ctg>Gtg	p.L1110V	PRDM2_ENST00000343137.4_Missense_Mutation_p.L909V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1110V|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L909V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAATGAAGGTCTGAAACCCAG	0.438																																																	0													86.0	90.0	88.0					1																	14107618		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3328C>G	1.37:g.14107618C>G	ENSP00000235372:p.Leu1110Val		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.L1110V	ENST00000235372.7	37	c.3328	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.769044	0.00645	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01705	4.81;4.68;4.7;4.7	5.97	4.05	0.47172	.	1.049580	0.07387	N	0.888423	T	0.01061	0.0035	N	0.02802	-0.49	0.09310	N	1	P;B;B	0.34699	0.464;0.001;0.001	B;B;B	0.26770	0.073;0.001;0.003	T	0.51903	-0.8646	10	0.24483	T	0.36	.	9.9181	0.41448	0.2817:0.5824:0.136:0.0	.	968;1110;1110	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	V	1110;1110;1110;909;909	ENSP00000235372:L1110V;ENSP00000312352:L1110V;ENSP00000411103:L909V;ENSP00000341621:L909V	ENSP00000235372:L1110V	L	+	1	2	PRDM2	13980205	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	0.487000	0.22356	0.814000	0.34374	0.655000	0.94253	CTG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.438	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	C	NM_012231		14107618	+1	no_errors	ENST00000235372	ensembl	human	known	70_37	missense	SNP	0.002	G
PRDM7	11105	genome.wustl.edu	37	16	90124847	90124847	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:90124847G>C	ENST00000449207.2	-	10	1348	c.1329C>G	c.(1327-1329)ctC>ctG	p.L443L	PRDM7_ENST00000407825.1_Nonsense_Mutation_p.S143*|PRDM7_ENST00000325921.6_Nonsense_Mutation_p.S143*	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	443					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGGAAGTTCTGAGAGGAGTGA	0.488																																																	0													144.0	138.0	140.0					16																	90124847		2198	4300	6498	SO:0001819	synonymous_variant	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1329C>G	16.37:g.90124847G>C			A4Q9G8|Q08EM4|Q9NQW4	Nonsense_Mutation	SNP	NULL	p.S143*	ENST00000449207.2	37	c.428	CCDS45557.1	16	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744903	0.49151	.	.	ENSG00000126856	ENST00000325921;ENST00000407825	.	.	.	2.69	0.21	0.15231	.	.	.	.	.	.	.	.	.	.	.	0.37549	D	0.918632	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3908	9.4947	0.38982	0.0:0.4137:0.5863:0.0	.	.	.	.	X	143	.	.	S	-	2	0	PRDM7	88652348	0.985000	0.35326	0.517000	0.27799	0.151000	0.21798	0.471000	0.22100	0.403000	0.25479	0.467000	0.42956	TCA	PRDM7	-	NULL		0.488	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	HGNC	protein_coding	OTTHUMT00000420560.1	G			90124847	-1	no_errors	ENST00000325921	ensembl	human	known	70_37	nonsense	SNP	0.066	C
PRKAB2	5565	genome.wustl.edu	37	1	146631137	146631137	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:146631137G>A	ENST00000254101.3	-	0	964				PRKAB2_ENST00000496858.1_5'UTR|PRKAB2_ENST00000425272.2_3'UTR	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit						carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GGCAAGAAGGGATCCCTTCAA	0.463																																																	0													182.0	156.0	165.0					1																	146631137		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5565			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.*7C>T	1.37:g.146631137G>A			A8K9V5|B4DH06|Q5VXY0	RNA	SNP	-	NULL	ENST00000254101.3	37	NULL	CCDS925.1	1																																																																																			PRKAB2	-	-		0.463	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB2	HGNC	protein_coding	OTTHUMT00000039471.1	G	NM_005399		146631137	-1	no_errors	ENST00000496858	ensembl	human	known	70_37	rna	SNP	0.003	A
PRKCH	5583	genome.wustl.edu	37	14	61789110	61789110	+	Missense_Mutation	SNP	C	C	G	rs561279740		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:61789110C>G	ENST00000332981.5	+	1	676	c.291C>G	c.(289-291)ttC>ttG	p.F97L	RP11-902B17.1_ENST00000500036.2_RNA|PRKCH_ENST00000555082.1_5'Flank	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	97	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACGACCACTTCGTGGCCAACT	0.632																																					Melanoma(135;863 1779 8064 14443 26348)												0													50.0	46.0	47.0					14																	61789110		2203	4299	6502	SO:0001583	missense	5583			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.291C>G	14.37:g.61789110C>G	ENSP00000329127:p.Phe97Leu		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F97L	ENST00000332981.5	37	c.291	CCDS9752.1	14	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211583	0.79240	.	.	ENSG00000027075	ENST00000557294;ENST00000332981	T;T	0.69435	-0.4;-0.4	4.85	-0.267	0.12938	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	T	0.79545	0.4464	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75566	-0.3273	10	0.36615	T	0.2	.	9.2913	0.37789	0.0:0.5092:0.0:0.4908	.	97	P24723	KPCL_HUMAN	L	97	ENSP00000452129:F97L;ENSP00000329127:F97L	ENSP00000329127:F97L	F	+	3	2	PRKCH	60858863	0.712000	0.27916	0.993000	0.49108	0.997000	0.91878	-0.126000	0.10563	-0.241000	0.09681	0.655000	0.94253	TTC	PRKCH	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting		0.632	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	HGNC	protein_coding	OTTHUMT00000276974.2	C	NM_006255		61789110	+1	no_errors	ENST00000332981	ensembl	human	known	70_37	missense	SNP	0.996	G
PRKD2	25865	genome.wustl.edu	37	19	47197277	47197277	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:47197277G>A	ENST00000291281.4	-	10	1656	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PRKD2_ENST00000601806.1_Silent_p.F320F|PRKD2_ENST00000595515.1_Silent_p.F477F|PRKD2_ENST00000600194.1_Silent_p.F320F|PRKD2_ENST00000433867.1_Silent_p.F477F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	477	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCTCGCCCACGAAGTAGGTGG	0.672																																																	0													64.0	53.0	57.0					19																	47197277		2203	4300	6503	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1431C>T	19.37:g.47197277G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F477	ENST00000291281.4	37	c.1431	CCDS12689.1	19																																																																																			PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.672	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	G	NM_016457		47197277	-1	no_errors	ENST00000291281	ensembl	human	known	70_37	silent	SNP	0.953	A
PROS1	5627	genome.wustl.edu	37	3	93595938	93595938	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:93595938C>T	ENST00000394236.3	-	14	2058	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	PROS1_ENST00000407433.1_Missense_Mutation_p.R450K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	581	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAGATTGTTTCTGTTGACTCT	0.383																																																	0													126.0	118.0	120.0					3																	93595938		2203	4300	6503	SO:0001583	missense	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1742G>A	3.37:g.93595938C>T	ENSP00000377783:p.Arg581Lys		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.R581K	ENST00000394236.3	37	c.1742	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	2.308	-0.358599	0.05138	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77358	-1.09;-1.09	4.64	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.378734	0.30201	N	0.010164	T	0.66237	0.2769	L	0.39397	1.21	0.28795	N	0.899119	P	0.39044	0.656	B	0.42738	0.396	T	0.59311	-0.7478	10	0.05436	T	0.98	.	8.2366	0.31629	0.0:0.8153:0.0:0.1847	.	581	P07225	PROS_HUMAN	K	581;450	ENSP00000377783:R581K;ENSP00000385794:R450K	ENSP00000377783:R581K	R	-	2	0	PROS1	95078628	0.056000	0.20664	0.782000	0.31804	0.044000	0.14063	0.085000	0.14912	1.174000	0.42811	0.555000	0.69702	AGA	PROS1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	C	NM_000313		93595938	-1	no_errors	ENST00000394236	ensembl	human	known	70_37	missense	SNP	0.976	T
PRPF40A	55660	genome.wustl.edu	37	2	153533990	153533990	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:153533990C>T	ENST00000410080.1	-	9	1173		c.e9-1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTGATCATTGCTATTAAAGAG	0.264																																																	0													35.0	33.0	34.0					2																	153533990		1776	4041	5817	SO:0001630	splice_region_variant	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.632-1G>A	2.37:g.153533990C>T			O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	SNP	-	e9-1	ENST00000410080.1	37	c.632-1	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229088	0.79688	.	.	ENSG00000196504	ENST00000410080;ENST00000545856;ENST00000493468	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6829	0.88249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRPF40A	153242236	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.343000	0.72986	2.602000	0.87976	0.591000	0.81541	.	PRPF40A	-	-		0.264	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	C	XM_371575	Intron	153533990	-1	no_errors	ENST00000410080	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PRPF8	10594	genome.wustl.edu	37	17	1556852	1556852	+	Missense_Mutation	SNP	G	G	C	rs387906971		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:1556852G>C	ENST00000572621.1	-	38	6618	c.6353C>G	c.(6352-6354)tCt>tGt	p.S2118C	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Missense_Mutation_p.S2118C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2118	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCGAAGGTCAGATATGCAGAT	0.463																																																	0													122.0	103.0	110.0					17																	1556852		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6353C>G	17.37:g.1556852G>C	ENSP00000460348:p.Ser2118Cys		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.S2118C	ENST00000572621.1	37	c.6353	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785710	0.70337	.	.	ENSG00000174231	ENST00000304992	T	0.55588	0.51	5.78	4.81	0.61882	.	0.049742	0.85682	D	0.000000	T	0.73513	0.3596	M	0.90870	3.155	0.80722	D	1	D	0.59357	0.985	P	0.58928	0.848	T	0.77760	-0.2467	10	0.38643	T	0.18	.	13.6743	0.62445	0.0733:0.0:0.9267:0.0	.	2118	Q6P2Q9	PRP8_HUMAN	C	2118	ENSP00000304350:S2118C	ENSP00000304350:S2118C	S	-	2	0	PRPF8	1503602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.631000	0.98424	1.450000	0.47717	0.655000	0.94253	TCT	PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.463	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1556852	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	C
PRR12	57479	genome.wustl.edu	37	19	50119130	50119130	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:50119130G>C	ENST00000418929.2	+	9	5163	c.5151G>C	c.(5149-5151)caG>caC	p.Q1717H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	896							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCAGAGCAGACTCCTGAGA	0.622																																																	0													29.0	36.0	33.0					19																	50119130		1914	4123	6037	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5151G>C	19.37:g.50119130G>C	ENSP00000394510:p.Gln1717His		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.Q1717H	ENST00000418929.2	37	c.5151	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	G	3.277	-0.147818	0.06627	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.9	0.384	0.16244	.	0.549745	0.15208	N	0.274615	T	0.15652	0.0377	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16041	-1.0416	9	0.51188	T	0.08	-14.8283	5.659	0.17658	0.2485:0.1431:0.6084:0.0	.	1717	Q9ULL5-3	.	H	1717;897;897	.	ENSP00000246798:Q897H	Q	+	3	2	PRR12	54810942	1.000000	0.71417	0.047000	0.18901	0.419000	0.31324	2.502000	0.45398	0.013000	0.14918	0.561000	0.74099	CAG	PRR12	-	NULL		0.622	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	G	NM_020719		50119130	+1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	0.241	C
PRRC2C	23215	genome.wustl.edu	37	1	171526764	171526764	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:171526764C>G	ENST00000338920.4	+	19	5744	c.5507C>G	c.(5506-5508)tCa>tGa	p.S1836*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.S1836*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.S1838*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.S1838*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1836	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										gctccagcctcagccccagct	0.547																																																	0													108.0	107.0	108.0					1																	171526764		1721	3146	4867	SO:0001587	stop_gained	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.5507C>G	1.37:g.171526764C>G	ENSP00000343629:p.Ser1836*		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.S1838*	ENST00000338920.4	37	c.5513	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.760201|12.760201	0.99694|0.99694	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|.	.|.	.|.	3.02|3.02	2.1|2.1	0.27182|0.27182	.|.	.|.	.|.	.|.	.|.	T|.	0.32941|.	0.0846|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23655|.	-1.0182|.	3|.	.|0.72032	.|D	.|0.01	.|.	6.284|6.284	0.21023|0.21023	0.0:0.8599:0.0:0.1401|0.0:0.8599:0.0:0.1401	.|.	.|.	.|.	.|.	E|X	384|1838;1790;1836;1838;1836;1593	.|.	.|ENSP00000343629:S1836X	Q|S	+|+	1|2	0|0	PRRC2C|PRRC2C	169793388|169793388	0.003000|0.003000	0.15002|0.15002	0.025000|0.025000	0.17156|0.17156	0.834000|0.834000	0.47266|0.47266	1.958000|1.958000	0.40402|0.40402	0.828000|0.828000	0.34709|0.34709	-0.310000|-0.310000	0.09108|0.09108	CAG|TCA	PRRC2C	-	NULL		0.547	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	C	NM_015172		171526764	+1	no_errors	ENST00000392078	ensembl	human	known	70_37	nonsense	SNP	0.032	G
PSD2	84249	genome.wustl.edu	37	5	139201535	139201535	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:139201535C>T	ENST00000274710.3	+	6	1360	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	385	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGTCCTCACACACTTCT	0.592																																																	0													153.0	118.0	130.0					5																	139201535		2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1155C>T	5.37:g.139201535C>T			D3DQD3|Q8N3J8	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L385	ENST00000274710.3	37	c.1155	CCDS4216.1	5																																																																																			PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	C	NM_032289		139201535	+1	no_errors	ENST00000274710	ensembl	human	known	70_37	silent	SNP	0.000	T
PSME3	10197	genome.wustl.edu	37	17	40985912	40985912	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40985912C>G	ENST00000590720.1	+	1	275				PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_5'UTR|PSME3_ENST00000293362.3_Intron|PSME3_ENST00000545225.1_Intron			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGGACACCTCCGCGGACACG	0.637																																																	0																																										SO:0001627	intron_variant	10197			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.42+222C>G	17.37:g.40985912C>G			A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	RNA	SNP	-	NULL	ENST00000590720.1	37	NULL	CCDS45689.1	17																																																																																			PSME3	-	-		0.637	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME3	HGNC	protein_coding	OTTHUMT00000452430.1	C	NM_176863		40985912	+1	no_errors	ENST00000592578	ensembl	human	known	70_37	rna	SNP	0.000	G
PSTPIP2	9050	genome.wustl.edu	37	18	43619965	43619965	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:43619965G>C	ENST00000409746.5	-	2	153	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L28V	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	28	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.					cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCATTGTTCAGATGTTGGATA	0.493																																																	0													223.0	186.0	198.0					18																	43619965		2203	4300	6503	SO:0001583	missense	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.82C>G	18.37:g.43619965G>C	ENSP00000387261:p.Leu28Val			Missense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.L28V	ENST00000409746.5	37	c.82	CCDS32820.2	18	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471139	0.43942	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.18338	2.22	5.01	4.14	0.48551	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.64402	D	0.000002	T	0.27798	0.0684	L	0.43152	1.355	0.33411	D	0.578613	D;D	0.67145	0.996;0.994	D;D	0.67725	0.928;0.953	T	0.35101	-0.9802	10	0.49607	T	0.09	-10.4872	7.3963	0.26938	0.087:0.0:0.747:0.166	.	28;28	Q9H939-2;Q9H939	.;PPIP2_HUMAN	V	28	ENSP00000387261:L28V	ENSP00000353189:L28V	L	-	1	2	PSTPIP2	41873963	1.000000	0.71417	0.998000	0.56505	0.415000	0.31203	1.509000	0.35780	1.111000	0.41721	0.460000	0.39030	CTG	PSTPIP2	-	pfam_FCH,smart_FCH,pfscan_FCH		0.493	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	HGNC	protein_coding	OTTHUMT00000327522.1	G			43619965	-1	no_errors	ENST00000409746	ensembl	human	known	70_37	missense	SNP	0.999	C
PTAFR	5724	genome.wustl.edu	37	1	28476822	28476822	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:28476822G>A	ENST00000373857.3	-	2	1345	c.711C>T	c.(709-711)gtC>gtT	p.V237V	PTAFR_ENST00000539896.1_Silent_p.V237V|PTAFR_ENST00000305392.3_Silent_p.V237V	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	237					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCGCCAAGACCGTGCACA	0.617																																																	0													70.0	65.0	67.0					1																	28476822		2203	4300	6503	SO:0001819	synonymous_variant	5724			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.711C>T	1.37:g.28476822G>A			A3KMC8|A8K2H5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.V237	ENST00000373857.3	37	c.711	CCDS318.1	1																																																																																			PTAFR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTAFR	HGNC	protein_coding	OTTHUMT00000011258.1	G	NM_000952		28476822	-1	no_errors	ENST00000305392	ensembl	human	known	70_37	silent	SNP	0.439	A
PTEN	5728	genome.wustl.edu	37	10	89711893	89711893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:89711893C>T	ENST00000371953.3	+	6	1868	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	171	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q171*(9)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Q171E(2)|p.Q171K(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170_Q171del(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTCCCAGTCAGAGGCGCTA	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	70	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Nonsense(9)|Complex - frameshift(4)|Unknown(4)|Substitution - Missense(3)|Deletion - In frame(2)	central_nervous_system(23)|prostate(16)|skin(8)|endometrium(6)|lung(5)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	HM971504	PTEN	M							120.0	124.0	123.0					10																	89711893		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.511C>T	10.37:g.89711893C>T	ENSP00000361021:p.Gln171*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q171*	ENST00000371953.3	37	c.511	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	50	16.540715	0.99866	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.74	5.74	0.90152	.	0.114128	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.5947	19.9308	0.97118	0.0:1.0:0.0:0.0	.	.	.	.	X	171	.	.	Q	+	1	0	PTEN	89701873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CAG	PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89711893	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PTPN21	11099	genome.wustl.edu	37	14	88945915	88945915	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:88945915G>T	ENST00000556564.1	-	13	2144	c.1860C>A	c.(1858-1860)gtC>gtA	p.V620V	PTPN21_ENST00000328736.3_Silent_p.V620V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	620					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGGCTCGCTGACCTCCTGCA	0.701																																																	0													20.0	21.0	20.0					14																	88945915		2194	4284	6478	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1860C>A	14.37:g.88945915G>T				Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.V620	ENST00000556564.1	37	c.1860	CCDS9884.1	14																																																																																			PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21		0.701	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	G			88945915	-1	no_errors	ENST00000328736	ensembl	human	known	70_37	silent	SNP	0.981	T
PTPRF	5792	genome.wustl.edu	37	1	44087718	44087718	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:44087718G>A	ENST00000359947.4	+	0	6108				PTPRF_ENST00000372414.3_3'UTR|PTPRF_ENST00000438120.1_3'UTR|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_3'UTR|PTPRF_ENST00000422171.2_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGGGCTCCGGAGGGGACCCA	0.647																																																	0													56.0	51.0	53.0					1																	44087718		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.*44G>A	1.37:g.44087718G>A			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	RNA	SNP	-	NULL	ENST00000359947.4	37	NULL	CCDS489.2	1																																																																																			PTPRF	-	-		0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44087718	+1	no_errors	ENST00000477970	ensembl	human	known	70_37	rna	SNP	1.000	A
PTPRG	5793	genome.wustl.edu	37	3	62180801	62180801	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:62180801G>A	ENST00000474889.1	+	10	1661	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PTPRG_ENST00000295874.10_Silent_p.R428R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	428	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCGTGTGTCGGAACGACATGC	0.547																																																	0													148.0	129.0	136.0					3																	62180801		2203	4300	6503	SO:0001819	synonymous_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1284G>A	3.37:g.62180801G>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.R428	ENST00000474889.1	37	c.1284	CCDS2895.1	3																																																																																			PTPRG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	G	NM_002841		62180801	+1	no_errors	ENST00000474889	ensembl	human	known	70_37	silent	SNP	0.694	A
PTPRN2	5799	genome.wustl.edu	37	7	157333463	157333463	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:157333463G>A	ENST00000389418.4	-	23	3002	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A981V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A1021V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A969V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A960V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	998	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCTGTCAGCGCGAACTCAAA	0.652																																																	0													24.0	25.0	25.0					7																	157333463		2194	4288	6482	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2993C>T	7.37:g.157333463G>A	ENSP00000374069:p.Ala998Val		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A1021V	ENST00000389418.4	37	c.3062	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734981	0.69189	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	4.66	4.66	0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.01076	-1.035	0.54753	D	0.999987	D;D;D;D;D	0.89917	0.995;0.996;0.995;1.0;0.996	P;P;P;D;P	0.91635	0.517;0.553;0.517;0.999;0.553	T	0.58853	-0.7563	10	0.30854	T	0.27	.	17.927	0.88986	0.0:0.0:1.0:0.0	.	1021;960;969;981;998	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	960;969;981;998;1021	ENSP00000387114:A960V;ENSP00000374064:A969V;ENSP00000374067:A981V;ENSP00000374069:A998V;ENSP00000385464:A1021V	ENSP00000374064:A969V	A	-	2	0	PTPRN2	157026224	1.000000	0.71417	0.965000	0.40720	0.803000	0.45373	8.910000	0.92685	2.307000	0.77673	0.561000	0.74099	GCG	PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	G			157333463	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRT	11122	genome.wustl.edu	37	20	41400150	41400150	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:41400150C>T	ENST00000373187.1	-	5	608	c.609G>A	c.(607-609)gtG>gtA	p.V203V	PTPRT_ENST00000356100.2_Silent_p.V203V|PTPRT_ENST00000373201.1_Silent_p.V203V|PTPRT_ENST00000373193.3_Silent_p.V203V|PTPRT_ENST00000373190.1_Silent_p.V203V|PTPRT_ENST00000373184.1_Silent_p.V203V|PTPRT_ENST00000373198.4_Silent_p.V203V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	203	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCCACATTCACCTCCACGT	0.493																																																	0													176.0	160.0	165.0					20																	41400150		1980	4168	6148	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.609G>A	20.37:g.41400150C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V203	ENST00000373187.1	37	c.609	CCDS42874.1	20																																																																																			PTPRT	-	pfscan_Ig-like		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			41400150	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.999	T
PTPRT	11122	genome.wustl.edu	37	20	41408922	41408922	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:41408922G>C	ENST00000373187.1	-	4	503	c.504C>G	c.(502-504)gtC>gtG	p.V168V	PTPRT_ENST00000356100.2_Silent_p.V168V|PTPRT_ENST00000373201.1_Silent_p.V168V|PTPRT_ENST00000373193.3_Silent_p.V168V|PTPRT_ENST00000373190.1_Silent_p.V168V|PTPRT_ENST00000373184.1_Silent_p.V168V|PTPRT_ENST00000373198.4_Silent_p.V168V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	168	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTTCAATGAGACGGATTCAA	0.537																																																	0													105.0	103.0	104.0					20																	41408922		2061	4193	6254	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.504C>G	20.37:g.41408922G>C			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V168	ENST00000373187.1	37	c.504	CCDS42874.1	20																																																																																			PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.537	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			41408922	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.998	C
PUM2	23369	genome.wustl.edu	37	2	20512059	20512059	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:20512059C>G	ENST00000361078.2	-	3	308	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	PUM2_ENST00000319801.5_Missense_Mutation_p.E96Q|PUM2_ENST00000536417.1_Missense_Mutation_p.E40Q|PUM2_ENST00000338086.5_Missense_Mutation_p.E96Q|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000403432.1_Missense_Mutation_p.E96Q			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	96	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATACATATTCTACCATGCTC	0.363																																																	0													99.0	93.0	95.0					2																	20512059		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.286G>C	2.37:g.20512059C>G	ENSP00000354370:p.Glu96Gln		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E96Q	ENST00000361078.2	37	c.286		2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436652	0.83885	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T	0.61158	0.13;0.33;0.44;0.13;0.35	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.73598	2.24	0.80722	D	1	D;B;D	0.89917	0.998;0.011;1.0	D;B;D	0.91635	0.993;0.009;0.999	T	0.80313	-0.1435	10	0.87932	D	0	-15.3817	16.9508	0.86245	0.0:0.8722:0.1278:0.0	.	40;96;96	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	Q	96;96;96;96;40;96	ENSP00000338173:E96Q;ENSP00000354370:E96Q;ENSP00000326746:E96Q;ENSP00000385992:E96Q;ENSP00000440093:E40Q	ENSP00000326746:E96Q	E	-	1	0	PUM2	20375540	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.818000	0.86416	1.436000	0.47453	0.591000	0.81541	GAA	PUM2	-	NULL		0.363	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		C	NM_015317		20512059	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	G
PZP	5858	genome.wustl.edu	37	12	9355190	9355190	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:9355190G>T	ENST00000261336.2	-	3	386	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	120					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCAGTACCAGAACTGTGTTC	0.473																																					Melanoma(125;1402 1695 4685 34487 38571)												0													127.0	126.0	127.0					12																	9355190		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.358C>A	12.37:g.9355190G>T	ENSP00000261336:p.Leu120Met		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L120M	ENST00000261336.2	37	c.358	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	G	3.409	-0.120524	0.06838	.	.	ENSG00000126838	ENST00000261336	T	0.42513	0.97	2.3	-0.849	0.10723	.	0.000000	0.41194	U	0.000924	T	0.32041	0.0816	M	0.78637	2.42	0.09310	N	1	B	0.32731	0.382	B	0.28553	0.091	T	0.14755	-1.0461	10	0.25106	T	0.35	.	2.7378	0.05245	0.3312:0.2548:0.414:0.0	.	120	P20742	PZP_HUMAN	M	120	ENSP00000261336:L120M	ENSP00000261336:L120M	L	-	1	2	PZP	9246457	0.000000	0.05858	0.002000	0.10522	0.168000	0.22595	-1.269000	0.02834	-0.200000	0.10300	0.305000	0.20034	CTG	PZP	-	NULL		0.473	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	G	NM_002864		9355190	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.002	T
RAB13	5872	genome.wustl.edu	37	1	153957217	153957217	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:153957217C>G	ENST00000368575.3	-	2	280	c.165G>C	c.(163-165)aaG>aaC	p.K55N	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	55					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTTGATCTTCTTCCCCTCTA	0.443																																					Ovarian(138;395 2427 24306 43415)												0													153.0	130.0	138.0					1																	153957217		2203	4300	6503	SO:0001583	missense	5872			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.165G>C	1.37:g.153957217C>G	ENSP00000357564:p.Lys55Asn		A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K55N	ENST00000368575.3	37	c.165	CCDS1058.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326090	0.81580	.	.	ENSG00000143545	ENST00000368575	T	0.78595	-1.19	5.16	2.12	0.27331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	L	0.52126	1.63	0.58432	D	0.999995	D;D	0.76494	0.977;0.999	P;D	0.77557	0.854;0.99	T	0.76984	-0.2756	10	0.87932	D	0	.	8.5094	0.33208	0.0:0.7295:0.0:0.2705	.	55;55	D3DV69;P51153	.;RAB13_HUMAN	N	55	ENSP00000357564:K55N	ENSP00000357564:K55N	K	-	3	2	RAB13	152223841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.897000	0.48664	0.289000	0.22422	-0.150000	0.13652	AAG	RAB13	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.443	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	C	NM_002870		153957217	-1	no_errors	ENST00000368575	ensembl	human	known	70_37	missense	SNP	1.000	G
RAB14	51552	genome.wustl.edu	37	9	123943695	123943695	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:123943695C>T	ENST00000373840.4	-	8	864	c.627G>A	c.(625-627)caG>caA	p.Q209Q		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	209					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCTTCTCTCTGGGGTTGGG	0.527																																																	0													110.0	106.0	107.0					9																	123943695		2203	4300	6503	SO:0001819	synonymous_variant	51552			AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.627G>A	9.37:g.123943695C>T			B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q209	ENST00000373840.4	37	c.627	CCDS6827.1	9																																																																																			RAB14	-	smart_Ran_GTPase		0.527	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB14	HGNC	protein_coding	OTTHUMT00000053857.1	C	NM_016322		123943695	-1	no_errors	ENST00000373840	ensembl	human	known	70_37	silent	SNP	1.000	T
RAB2B	84932	genome.wustl.edu	37	14	21936574	21936574	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:21936574C>G	ENST00000397762.1	-	5	404	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	102					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CGGGCATCCTCTAACCATGAG	0.428																																					Melanoma(131;1007 1750 28652 34486 42672)												0													74.0	72.0	73.0					14																	21936574		2203	4300	6503	SO:0001583	missense	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.304G>C	14.37:g.21936574C>G	ENSP00000380869:p.Glu102Gln		B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E102Q	ENST00000397762.1	37	c.304	CCDS9570.1	14	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434365	0.62955	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.77358	-1.09	5.06	4.16	0.48862	Small GTP-binding protein domain (1);	0.219650	0.31335	N	0.007822	T	0.64735	0.2625	N	0.16743	0.435	0.80722	D	1	B;B	0.28378	0.006;0.209	B;B	0.28709	0.022;0.093	T	0.64411	-0.6414	10	0.49607	T	0.09	.	14.4698	0.67509	0.0:0.8515:0.1485:0.0	.	102;37	Q8WUD1;Q6NZ33	RAB2B_HUMAN;.	Q	102	ENSP00000380869:E102Q	ENSP00000302005:E102Q	E	-	1	0	RAB2B	21006414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.245000	0.78237	1.337000	0.45525	0.655000	0.94253	GAG	RAB2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.428	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	C			21936574	-1	no_errors	ENST00000397762	ensembl	human	known	70_37	missense	SNP	1.000	G
RAB8A	4218	genome.wustl.edu	37	19	16229068	16229068	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:16229068G>A	ENST00000300935.3	+	2	430	c.157G>A	c.(157-159)Gat>Aat	p.D53N	RAB8A_ENST00000586682.1_Missense_Mutation_p.D53N	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	53					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CATAGAGCTCGATGGCAAGAG	0.458																																																	0													148.0	120.0	129.0					19																	16229068		2203	4300	6503	SO:0001583	missense	4218				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.157G>A	19.37:g.16229068G>A	ENSP00000300935:p.Asp53Asn		B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D53N	ENST00000300935.3	37	c.157	CCDS12339.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139818	0.77775	.	.	ENSG00000167461	ENST00000300935	T	0.80909	-1.43	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.049331	0.85682	D	0.000000	T	0.73001	0.3531	L	0.31207	0.915	0.80722	D	1	B;B;B	0.32507	0.373;0.373;0.013	B;B;B	0.32211	0.142;0.142;0.005	T	0.75605	-0.3260	10	0.66056	D	0.02	.	16.6745	0.85275	0.0:0.0:1.0:0.0	.	53;53;48	B4DEK7;P61006;Q59EP4	.;RAB8A_HUMAN;.	N	53	ENSP00000300935:D53N	ENSP00000300935:D53N	D	+	1	0	RAB8A	16090068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.530000	0.98051	2.272000	0.75746	0.655000	0.94253	GAT	RAB8A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.458	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	HGNC	protein_coding	OTTHUMT00000460186.1	G	NM_005370		16229068	+1	no_errors	ENST00000300935	ensembl	human	known	70_37	missense	SNP	1.000	A
RAD54B	25788	genome.wustl.edu	37	8	95390835	95390835	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:95390835G>C	ENST00000336148.5	-	13	2399	c.2275C>G	c.(2275-2277)Cag>Gag	p.Q759E		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	759	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGATATTTCTGACCATCTCTC	0.343								Direct reversal of damage;Homologous recombination																																									0													92.0	95.0	94.0					8																	95390835		2203	4300	6503	SO:0001583	missense	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2275C>G	8.37:g.95390835G>C	ENSP00000336606:p.Gln759Glu		F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q759E	ENST00000336148.5	37	c.2275	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.074737	0.94000	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.82081	-1.57	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.109676	0.64402	D	0.000005	D	0.95778	0.8626	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97450	1.0027	10	0.87932	D	0	-11.7494	19.9596	0.97236	0.0:0.0:1.0:0.0	.	759	Q9Y620	RA54B_HUMAN	E	759;431	ENSP00000336606:Q759E	ENSP00000336606:Q759E	Q	-	1	0	RAD54B	95460011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.355000	0.97087	2.726000	0.93360	0.655000	0.94253	CAG	RAD54B	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C		0.343	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	G	NM_012415		95390835	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	missense	SNP	1.000	C
RAD54B	25788	genome.wustl.edu	37	8	95470638	95470638	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:95470638G>A	ENST00000336148.5	-	3	286	c.162C>T	c.(160-162)ctC>ctT	p.L54L	RAD54B_ENST00000297592.5_Silent_p.L54L	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	54					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTGTGACGGGAGAAAGGTGT	0.279								Direct reversal of damage;Homologous recombination																																									0													86.0	82.0	84.0					8																	95470638		2203	4299	6502	SO:0001819	synonymous_variant	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.162C>T	8.37:g.95470638G>A			F6WBS8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L54	ENST00000336148.5	37	c.162	CCDS6262.1	8																																																																																			RAD54B	-	NULL		0.279	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	G	NM_012415		95470638	-1	no_errors	ENST00000336148	ensembl	human	known	70_37	silent	SNP	0.000	A
RAI2	10742	genome.wustl.edu	37	X	17819933	17819933	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:17819933C>T	ENST00000545871.1	-	3	658	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RAI2_ENST00000331511.1_Silent_p.Q66Q|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000451717.1_Silent_p.Q66Q|RAI2_ENST00000360011.1_Silent_p.Q66Q	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	66					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCATGCCACTCTGAGACTCGG	0.617																																																	0													76.0	77.0	77.0					X																	17819933		2203	4300	6503	SO:0001819	synonymous_variant	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.198G>A	X.37:g.17819933C>T			B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	NULL	p.Q66	ENST00000545871.1	37	c.198	CCDS14183.1	X																																																																																			RAI2	-	NULL		0.617	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	C	NM_021785		17819933	-1	no_errors	ENST00000331511	ensembl	human	known	70_37	silent	SNP	1.000	T
RALGAPB	57148	genome.wustl.edu	37	20	37195831	37195831	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:37195831G>C	ENST00000262879.6	+	26	4194	c.3910G>C	c.(3910-3912)Gag>Cag	p.E1304Q	RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1301Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E1083Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1304Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1304	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGACACTTGAGCTTTTCCC	0.388																																																	0													135.0	124.0	128.0					20																	37195831		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3910G>C	20.37:g.37195831G>C	ENSP00000262879:p.Glu1304Gln		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E1304Q	ENST00000262879.6	37	c.3910	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860121	0.91433	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.25	5.25	0.73442	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.64404	1.975	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.76143	-0.3067	9	0.40728	T	0.16	.	18.8563	0.92254	0.0:0.0:1.0:0.0	.	1301;1304	A2A2E9;Q86X10	.;RLGPB_HUMAN	Q	1304;1301;1083;1304;1133	.	ENSP00000262879:E1304Q	E	+	1	0	RALGAPB	36629245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.474000	0.97718	2.451000	0.82905	0.655000	0.94253	GAG	RALGAPB	-	pfscan_Rap_GAP		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	G	NM_020336		37195831	+1	no_errors	ENST00000262879	ensembl	human	known	70_37	missense	SNP	1.000	C
RAMP2	10266	genome.wustl.edu	37	17	40914675	40914675	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40914675C>T	ENST00000253796.5	+	4	401	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RAMP2-AS1_ENST00000592670.1_lincRNA|RAMP2_ENST00000589683.1_Silent_p.F36F|RAMP2_ENST00000587142.1_Silent_p.F116F|RAMP2_ENST00000588576.1_Missense_Mutation_p.S75F	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	111					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	ACCTGGGCTTCCCCAATCCCT	0.567																																																	0													104.0	91.0	95.0					17																	40914675		2203	4300	6503	SO:0001819	synonymous_variant	10266			AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.333C>T	17.37:g.40914675C>T			A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	NULL	p.S75F	ENST00000253796.5	37	c.224	CCDS11437.1	17																																																																																			RAMP2	-	NULL		0.567	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAMP2	HGNC	protein_coding	OTTHUMT00000452380.1	C	NM_005854		40914675	+1	no_errors	ENST00000588576	ensembl	human	putative	70_37	missense	SNP	1.000	T
RAMP2	10266	genome.wustl.edu	37	17	40914699	40914699	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40914699C>T	ENST00000253796.5	+	4	425	c.357C>T	c.(355-357)atC>atT	p.I119I	RAMP2-AS1_ENST00000592670.1_lincRNA|RAMP2_ENST00000589683.1_Silent_p.I44I|RAMP2_ENST00000587142.1_Silent_p.I124I|RAMP2_ENST00000588576.1_Missense_Mutation_p.S83L	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	119					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CAGAGAGGATCATCTTTGAGA	0.562																																																	0													108.0	92.0	97.0					17																	40914699		2203	4300	6503	SO:0001819	synonymous_variant	10266			AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.357C>T	17.37:g.40914699C>T			A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	NULL	p.S83L	ENST00000253796.5	37	c.248	CCDS11437.1	17																																																																																			RAMP2	-	NULL		0.562	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAMP2	HGNC	protein_coding	OTTHUMT00000452380.1	C	NM_005854		40914699	+1	no_errors	ENST00000588576	ensembl	human	putative	70_37	missense	SNP	0.996	T
RAPGEF6	51735	genome.wustl.edu	37	5	130846163	130846163	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:130846163C>T	ENST00000509018.1	-	8	854	c.649G>A	c.(649-651)Gat>Aat	p.D217N	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D217N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D217N|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.D217N|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D217N|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D217N|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D267N|RAPGEF6_ENST00000512052.1_5'Flank	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	217					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAATCTACATCTCCTACCTCA	0.398																																					Melanoma(168;435 1955 13113 13877 23213)												0													120.0	112.0	115.0					5																	130846163		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.649G>A	5.37:g.130846163C>T	ENSP00000421684:p.Asp217Asn		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D217N	ENST00000509018.1	37	c.649	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.560176	0.96527	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000504575;ENST00000504039;ENST00000514667	T;T;T;T;T;T;T;T	0.55052	1.39;1.31;1.31;1.39;1.26;1.85;0.54;1.5	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.999;0.994;0.999;0.999;0.987	T	0.71052	-0.4704	10	0.45353	T	0.12	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	217;217;217;267;217;217	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	N	217;217;217;217;217;217;217;45;70;70;267	ENSP00000421684:D217N;ENSP00000309298:D217N;ENSP00000426081:D217N;ENSP00000296859:D217N;ENSP00000311419:D217N;ENSP00000425389:D217N;ENSP00000424574:D45N;ENSP00000426948:D267N	ENSP00000426948:D267N	D	-	1	0	RAPGEF6;FNIP1	130874062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.657000	0.90304	0.563000	0.77884	GAT	RAPGEF6	-	NULL		0.398	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	C	NM_016340		130846163	-1	no_errors	ENST00000509018	ensembl	human	known	70_37	missense	SNP	1.000	T
RASAL1	8437	genome.wustl.edu	37	12	113537723	113537723	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:113537723C>G	ENST00000261729.5	-	0	2741				RASAL1_ENST00000446861.3_3'UTR|RASAL1_ENST00000546530.1_3'UTR|RASAL1_ENST00000548055.1_3'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)						intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGGGCTAGCTCTGGCATTTCC	0.642																																																	0													42.0	49.0	47.0					12																	113537723		2203	4299	6502	SO:0001624	3_prime_UTR_variant	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.*11G>C	12.37:g.113537723C>G			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	RNA	SNP	-	NULL	ENST00000261729.5	37	NULL	CCDS9165.1	12																																																																																			RASAL1	-	-		0.642	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	C	NM_004658		113537723	-1	no_errors	ENST00000549444	ensembl	human	putative	70_37	rna	SNP	0.000	G
RASGRP2	10235	genome.wustl.edu	37	11	64508520	64508520	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64508520C>G	ENST00000354024.3	-	5	523	c.271G>C	c.(271-273)Gac>Cac	p.D91H	RASGRP2_ENST00000394429.1_Nonstop_Mutation_p.*67S|RASGRP2_ENST00000377487.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000394428.1_Nonstop_Mutation_p.*64S|RASGRP2_ENST00000377489.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000377494.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000377486.3_Missense_Mutation_p.D91H|RASGRP2_ENST00000394430.1_Missense_Mutation_p.D91H|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D91H|RASGRP2_ENST00000377497.3_Missense_Mutation_p.D91H	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	91	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTTCAAGTCAAACTCCGCT	0.582											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													50.0	43.0	45.0					11																	64508520		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.271G>C	11.37:g.64508520C>G	ENSP00000338864:p.Asp91His	1077	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D91H	ENST00000354024.3	37	c.271	CCDS31598.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.39|14.39	2.522426|2.522426	0.44866|0.44866	.|.	.|.	ENSG00000068831|ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594;ENST00000377485|ENST00000394429;ENST00000394428	T;T;T;T;T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74|.	4.32|4.32	4.32|4.32	0.51571|0.51571	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);|.	0.051705|.	0.85682|.	D|.	0.000000|.	T|.	0.54127|.	0.1839|.	L|L	0.31420|0.31420	0.93|0.93	0.46298|0.46298	D|D	0.99897|0.99897	D|.	0.58620|.	0.983|.	D|.	0.66602|.	0.945|.	T|.	0.50988|.	-0.8762|.	10|.	0.20046|.	T|.	0.44|.	-1.2658|-1.2658	14.6766|14.6766	0.68983|0.68983	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91|.	Q7LDG7|.	GRP2_HUMAN|.	H|S	91|67;64	ENSP00000366714:D91H;ENSP00000377953:D91H;ENSP00000366717:D91H;ENSP00000338864:D91H;ENSP00000399114:D91H;ENSP00000366706:D91H;ENSP00000366707:D91H;ENSP00000366709:D91H;ENSP00000377951:D91H;ENSP00000366705:D91H|.	ENSP00000338864:D91H|.	D|X	-|-	1|2	0|2	RASGRP2|RASGRP2	64265096|64265096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.689000|0.689000	0.40095|0.40095	1.651000|1.651000	0.37302|0.37302	2.117000|2.117000	0.64856|0.64856	0.313000|0.313000	0.20887|0.20887	GAC|TGA	RASGRP2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.582	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	C	NM_153819		64508520	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	1.000	G
RAVER1	125950	genome.wustl.edu	37	19	10432283	10432283	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:10432283G>C	ENST00000293677.6	-	7	1317	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	395	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGTCTCCCAGGATGCCGGGCT	0.682																																																	0													34.0	41.0	39.0					19																	10432283		2007	4153	6160	SO:0001583	missense	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1236C>G	19.37:g.10432283G>C	ENSP00000293677:p.Ile412Met		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I412M	ENST00000293677.6	37	c.1236	CCDS45960.1	19	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154520	0.57259	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.12039	2.72	4.82	3.78	0.43462	.	0.134036	0.49916	D	0.000132	T	0.20981	0.0505	L	0.39898	1.24	0.34216	D	0.67483	D	0.64830	0.994	P	0.59221	0.854	T	0.21518	-1.0243	10	0.49607	T	0.09	-14.5429	8.9149	0.35576	0.1043:0.0:0.8957:0.0	.	412	E9PAU2	.	M	412;395	ENSP00000293677:I412M	ENSP00000293677:I412M	I	-	3	3	RAVER1	10293283	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	1.386000	0.34419	1.026000	0.39733	0.400000	0.26472	ATC	RAVER1	-	NULL		0.682	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	G	NM_133452		10432283	-1	no_errors	ENST00000293677	ensembl	human	known	70_37	missense	SNP	1.000	C
RB1	5925	genome.wustl.edu	37	13	49039158	49039158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:49039158G>T	ENST00000267163.4	+	22	2374	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	746	Domain B.|Pocket; binds T and E1A.		E -> G (in dbSNP:rs3092905).		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.L743fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTGATCAAAGAAGAGGAGTA	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	28	Whole gene deletion(15)|Unknown(12)|Deletion - Frameshift(1)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|pancreas(1)|liver(1)	GRCh37	CM040265	RB1	M							62.0	63.0	63.0					13																	49039158		2202	4300	6502	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2236G>T	13.37:g.49039158G>T	ENSP00000267163:p.Glu746*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.E746*	ENST00000267163.4	37	c.2236	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.008879	0.98607	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.48	5.48	0.80851	.	0.118794	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.7237	19.3432	0.94352	0.0:0.0:1.0:0.0	.	.	.	.	X	725;746	.	ENSP00000267163:E746X	E	+	1	0	RB1	47937159	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.593000	0.87608	0.591000	0.81541	GAA	RB1	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			49039158	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	49039374	49039374	+	Nonsense_Mutation	SNP	C	C	T	rs137853293		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:49039374C>T	ENST00000267163.4	+	23	2497	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	787	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R787*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCACATTCCTCGAAGCCCTTA	0.393		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	30	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(4)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|oesophagus(1)|ovary(1)|prostate(1)|liver(1)	GRCh37	CM900196	RB1	M	rs137853293						155.0	160.0	158.0					13																	49039374		2203	4300	6503	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2359C>T	13.37:g.49039374C>T	ENSP00000267163:p.Arg787*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R787*	ENST00000267163.4	37	c.2359	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.630709	0.98399	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.072182	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6067	0.62052	0.271:0.729:0.0:0.0	.	.	.	.	X	766;787	.	ENSP00000267163:R787X	R	+	1	2	RB1	47937375	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.152000	0.42272	2.779000	0.95612	0.591000	0.81541	CGA	RB1	-	pfam_Rb_C		0.393	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			49039374	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBM6	10180	genome.wustl.edu	37	3	50098409	50098409	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:50098409C>G	ENST00000266022.4	+	12	2508	c.2249C>G	c.(2248-2250)tCt>tGt	p.S750C	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.S228C|RBM6_ENST00000443081.1_Missense_Mutation_p.S618C|RBM6_ENST00000539992.1_Missense_Mutation_p.S92C|RBM6_ENST00000442092.1_Missense_Mutation_p.S228C	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	750					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGGGACCATTCTGACCACATG	0.418																																																	0													195.0	172.0	180.0					3																	50098409		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2249C>G	3.37:g.50098409C>G	ENSP00000266022:p.Ser750Cys		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.S750C	ENST00000266022.4	37	c.2249	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924719	0.73213	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.48201	0.82;1.45;1.41;0.88;0.82	6.14	6.14	0.99180	.	0.329422	0.29791	N	0.011187	T	0.48169	0.1485	L	0.36672	1.1	0.26784	N	0.969549	P;D	0.59357	0.931;0.985	P;P	0.49999	0.49;0.628	T	0.45160	-0.9280	9	.	.	.	-7.43	15.3046	0.73982	0.0:0.8607:0.1393:0.0	.	618;750	E9PGM9;P78332	.;RBM6_HUMAN	C	228;750;618;92;228	ENSP00000393530:S228C;ENSP00000266022:S750C;ENSP00000396466:S618C;ENSP00000443165:S92C;ENSP00000392939:S228C	.	S	+	2	0	RBM6	50073413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.769000	0.47654	2.937000	0.99478	0.650000	0.86243	TCT	RBM6	-	NULL		0.418	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	C	NM_005777		50098409	+1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	G
RBM6	10180	genome.wustl.edu	37	3	50114561	50114561	+	Missense_Mutation	SNP	G	G	A	rs368502555		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:50114561G>A	ENST00000266022.4	+	21	3626	c.3367G>A	c.(3367-3369)Gat>Aat	p.D1123N	RBM6_ENST00000422955.1_Missense_Mutation_p.D601N|RBM6_ENST00000443081.1_Missense_Mutation_p.D991N|RBM6_ENST00000539992.1_Missense_Mutation_p.D465N|RBM6_ENST00000421682.1_Missense_Mutation_p.D119N|RBM6_ENST00000442092.1_Missense_Mutation_p.D601N	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1123					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TAAAGAACTCGATTAAGAAAG	0.423																																																	0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	86.0	79.0	81.0		1801,3367	5.7	1.0	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RBM6	NM_001167582.1,NM_005777.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	601/602,1123/1124	50114561	1,13005	2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3367G>A	3.37:g.50114561G>A	ENSP00000266022:p.Asp1123Asn		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D1123N	ENST00000266022.4	37	c.3367	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273043	0.80580	0.0	1.16E-4	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000421682	T;T;T;T;T	0.55930	0.49;0.99;1.01;0.57;0.49	5.72	5.72	0.89469	.	0.172710	0.50627	D	0.000108	T	0.40119	0.1104	L	0.29908	0.895	0.46131	D	0.99888	P	0.46020	0.871	B	0.36030	0.216	T	0.25710	-1.0124	9	.	.	.	.	17.65	0.88161	0.0:0.0:1.0:0.0	.	1123	P78332	RBM6_HUMAN	N	601;1123;991;465;601;119	ENSP00000393530:D601N;ENSP00000266022:D1123N;ENSP00000396466:D991N;ENSP00000443165:D465N;ENSP00000392939:D601N	.	D	+	1	0	RBM6	50089565	1.000000	0.71417	0.973000	0.42090	0.928000	0.56348	5.885000	0.69736	2.709000	0.92574	0.561000	0.74099	GAT	RBM6	-	NULL		0.423	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50114561	+1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	0.997	A
RERGL	79785	genome.wustl.edu	37	12	18238577	18238577	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:18238577C>G	ENST00000229002.2	-	4	369	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	RERGL_ENST00000536890.1_Missense_Mutation_p.E54Q|RERGL_ENST00000538724.1_Missense_Mutation_p.E54Q|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	55	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCATATATTTCTAGATTTAGT	0.274																																																	0													112.0	114.0	113.0					12																	18238577		2202	4296	6498	SO:0001583	missense	79785			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.163G>C	12.37:g.18238577C>G	ENSP00000229002:p.Glu55Gln			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.E55Q	ENST00000229002.2	37	c.163	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429567	0.62844	.	.	ENSG00000111404	ENST00000229002;ENST00000538724;ENST00000536890	T;T;T	0.76578	-1.03;-1.03;-1.03	4.1	4.1	0.47936	.	0.113007	0.64402	D	0.000015	T	0.81659	0.4869	L	0.28776	0.89	0.50813	D	0.999894	P;D	0.89917	0.83;1.0	P;D	0.87578	0.756;0.998	D	0.83937	0.0309	10	0.72032	D	0.01	.	15.7719	0.78176	0.0:1.0:0.0:0.0	.	54;55	F5H686;Q9H628	.;RERGL_HUMAN	Q	55;54;54	ENSP00000229002:E55Q;ENSP00000437814:E54Q;ENSP00000437490:E54Q	ENSP00000229002:E55Q	E	-	1	0	RERGL	18129844	1.000000	0.71417	0.994000	0.49952	0.487000	0.33371	5.873000	0.69644	2.561000	0.86390	0.557000	0.71058	GAA	RERGL	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.274	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	HGNC	protein_coding	OTTHUMT00000401198.1	C	NM_024730		18238577	-1	no_errors	ENST00000229002	ensembl	human	known	70_37	missense	SNP	1.000	G
REXO1	57455	genome.wustl.edu	37	19	1817261	1817261	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:1817261G>C	ENST00000170168.4	-	12	3252	c.3158C>G	c.(3157-3159)tCa>tGa	p.S1053*	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1053						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTCTCCTGAGAGCTCTTT	0.627																																																	0													72.0	68.0	69.0					19																	1817261		2203	4300	6503	SO:0001587	stop_gained	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3158C>G	19.37:g.1817261G>C	ENSP00000170168:p.Ser1053*		Q9ULT2	Nonsense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S1053*	ENST00000170168.4	37	c.3158	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	.	36	5.750113	0.96890	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	.	.	.	3.94	2.9	0.33743	.	0.539889	0.19299	N	0.117700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.1194	10.4762	0.44665	0.0962:0.0:0.9037:0.0	.	.	.	.	X	1053;325	.	ENSP00000170168:S1053X	S	-	2	0	REXO1	1768261	0.981000	0.34729	0.001000	0.08648	0.001000	0.01503	6.210000	0.72176	0.864000	0.35578	0.561000	0.74099	TCA	REXO1	-	NULL		0.627	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	G	NM_020695		1817261	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	nonsense	SNP	0.031	C
RFFL	117584	genome.wustl.edu	37	17	33348523	33348523	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:33348523G>C	ENST00000315249.7	-	3	680	c.458C>G	c.(457-459)cCa>cGa	p.P153R	RFFL_ENST00000394597.2_Missense_Mutation_p.P153R|RFFL_ENST00000447669.2_Missense_Mutation_p.P153R|RFFL_ENST00000584655.1_Missense_Mutation_p.P153R|RFFL_ENST00000413582.2_Missense_Mutation_p.P153R|RFFL_ENST00000378516.2_Missense_Mutation_p.P153R|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Missense_Mutation_p.P153R|RFFL_ENST00000268850.7_Missense_Mutation_p.P153R					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGGAAAGTCTGGGGACAAGGT	0.587																																																	0													81.0	64.0	70.0					17																	33348523		2203	4300	6503	SO:0001583	missense	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.458C>G	17.37:g.33348523G>C	ENSP00000326170:p.Pro153Arg			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.P153R	ENST00000315249.7	37	c.458	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	G	1.021	-0.684972	0.03328	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.41758	1.0;1.0;1.0;0.99;1.0;1.0	5.65	3.64	0.41730	.	0.775582	0.12851	N	0.433932	T	0.24851	0.0603	L	0.29908	0.895	0.09310	N	1	B;B;P;B	0.35780	0.078;0.161;0.52;0.161	B;B;B;B	0.29267	0.079;0.099;0.1;0.067	T	0.09292	-1.0681	10	0.12766	T	0.61	-6.0439	8.2177	0.31521	0.0782:0.0:0.7611:0.1606	.	153;153;153;153	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	R	153	ENSP00000326170:P153R;ENSP00000378096:P153R;ENSP00000367777:P153R;ENSP00000268850:P153R;ENSP00000408513:P153R;ENSP00000412322:P153R	ENSP00000268850:P153R	P	-	2	0	RFFL	30372636	1.000000	0.71417	0.339000	0.25562	0.129000	0.20672	4.910000	0.63321	0.898000	0.36418	-0.136000	0.14681	CCA	RFFL	-	NULL		0.587	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	G	NM_057178		33348523	-1	no_errors	ENST00000315249	ensembl	human	known	70_37	missense	SNP	0.002	C
RFPL2	10739	genome.wustl.edu	37	22	32586724	32586724	+	3'UTR	SNP	T	T	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:32586724T>G	ENST00000400237.1	-	0	2107				RFPL2_ENST00000248980.4_3'UTR|RFPL2_ENST00000400236.3_3'UTR|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_3'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2								zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CAAGTAATTTTCTTACCCTGT	0.418																																																	0													45.0	49.0	48.0					22																	32586724		2057	4184	6241	SO:0001624	3_prime_UTR_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.*35A>C	22.37:g.32586724T>G				RNA	SNP	-	NULL	ENST00000400237.1	37	NULL	CCDS43009.2	22																																																																																			RFPL2	-	-		0.418	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	T	NM_006605		32586724	-1	no_errors	ENST00000489846	ensembl	human	putative	70_37	rna	SNP	0.003	G
RGPD4	285190	genome.wustl.edu	37	2	108443522	108443522	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:108443522C>A	ENST00000408999.3	+	1	130	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Missense_Mutation_p.S18Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	18					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGCAGGGCTCCGCCCCGTCG	0.711																																																	0													40.0	61.0	54.0					2																	108443522		692	1590	2282	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.53C>A	2.37:g.108443522C>A	ENSP00000386810:p.Ser18Tyr		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S18Y	ENST00000408999.3	37	c.53	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	3.221	-0.159604	0.06544	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.41065	1.01;1.02	2.33	1.42	0.22433	.	.	.	.	.	T	0.26666	0.0652	L	0.34521	1.04	0.19775	N	0.999957	P	0.44734	0.842	B	0.34779	0.189	T	0.07121	-1.0789	9	0.52906	T	0.07	-0.707	8.1253	0.30995	0.0:0.7483:0.2517:0.0	.	18	Q7Z3J3	RGPD4_HUMAN	Y	18	ENSP00000347081:S18Y;ENSP00000386810:S18Y	ENSP00000347081:S18Y	S	+	2	0	RGPD4	107809954	0.453000	0.25721	0.115000	0.21578	0.007000	0.05969	2.248000	0.43160	0.098000	0.17522	-1.174000	0.01732	TCC	RGPD4	-	NULL		0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108443522	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.587	A
RGPD8	727851	genome.wustl.edu	37	2	113157331	113157331	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:113157331C>G	ENST00000302558.3	-	14	2124	c.1933G>C	c.(1933-1935)Gaa>Caa	p.E645Q	RGPD8_ENST00000330575.5_Missense_Mutation_p.E645Q|RGPD8_ENST00000409750.1_Missense_Mutation_p.E505Q	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	645					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTTCATATTCAACAATTTCT	0.289																																																	0																																										SO:0001583	missense	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.1933G>C	2.37:g.113157331C>G	ENSP00000306637:p.Glu645Gln		Q5CZA8	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E645Q	ENST00000302558.3	37	c.1933	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445510	0.25987	.	.	ENSG00000169629	ENST00000302558;ENST00000409750;ENST00000330575	T;T;T	0.57273	1.01;1.0;0.41	2.35	2.35	0.29111	.	.	.	.	.	T	0.53254	0.1785	L	0.54323	1.7	0.25622	N	0.986382	P;B	0.36162	0.54;0.032	B;B	0.43728	0.429;0.032	T	0.48456	-0.9034	9	0.46703	T	0.11	-8.075	10.4068	0.44266	0.0:1.0:0.0:0.0	.	645;645	F8W705;O14715	.;RGPD8_HUMAN	Q	645;505;645	ENSP00000306637:E645Q;ENSP00000386511:E505Q;ENSP00000327486:E645Q	ENSP00000306637:E645Q	E	-	1	0	RGPD8	112873802	0.998000	0.40836	0.820000	0.32676	0.158000	0.22134	4.854000	0.62918	1.313000	0.45069	0.184000	0.17185	GAA	RGPD8	-	NULL		0.289	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	C	XM_001722279		113157331	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	missense	SNP	0.891	G
RHOBTB2	23221	genome.wustl.edu	37	8	22862930	22862930	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:22862930C>T	ENST00000251822.6	+	3	775	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Silent_p.L102L|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Silent_p.L87L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	80	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCGTCTCTCTGCGCCTCTG	0.602																																																	0													109.0	99.0	103.0					8																	22862930		2203	4300	6503	SO:0001819	synonymous_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.238C>T	8.37:g.22862930C>T			A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.L80	ENST00000251822.6	37	c.238	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.602	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	C			22862930	+1	no_errors	ENST00000251822	ensembl	human	known	70_37	silent	SNP	1.000	T
RIOK3	8780	genome.wustl.edu	37	18	21061177	21061177	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:21061177G>A	ENST00000339486.3	+	13	2111	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	RIOK3_ENST00000581585.1_Silent_p.K482K|RIOK3_ENST00000577501.1_Silent_p.K495K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	498	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTTCAGAAGAATGGAAGGA	0.353																																																	0													103.0	98.0	100.0					18																	21061177		2203	4300	6503	SO:0001819	synonymous_variant	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1494G>A	18.37:g.21061177G>A			Q8IXN9	Silent	SNP	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.K498	ENST00000339486.3	37	c.1494	CCDS11877.1	18																																																																																			RIOK3	-	pirsf_Ser/Thr_kinase_Rio3		0.353	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	HGNC	protein_coding	OTTHUMT00000254756.1	G	NM_003831		21061177	+1	no_errors	ENST00000339486	ensembl	human	known	70_37	silent	SNP	1.000	A
RLTPR	146206	genome.wustl.edu	37	16	67685860	67685860	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:67685860G>C	ENST00000334583.6	+	26	2953	c.2625G>C	c.(2623-2625)gaG>gaC	p.E875D	RLTPR_ENST00000545661.1_Missense_Mutation_p.E839D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	875					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTTGGCAGAGAGCATTGTGG	0.602																																																	0													133.0	140.0	137.0					16																	67685860		2143	4246	6389	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2625G>C	16.37:g.67685860G>C	ENSP00000334958:p.Glu875Asp		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E875D	ENST00000334583.6	37	c.2625	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	3.404	-0.121693	0.06838	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.10005	2.92;2.93	4.85	-0.85	0.10720	.	0.245701	0.28847	N	0.013944	T	0.06600	0.0169	L	0.60455	1.87	0.36308	D	0.857469	B;P	0.38020	0.274;0.615	B;B	0.32211	0.056;0.142	T	0.43877	-0.9364	10	0.02654	T	1	-10.3727	6.2684	0.20941	0.176:0.4531:0.3709:0.0	.	839;875	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	D	875;839	ENSP00000334958:E875D;ENSP00000441481:E839D	ENSP00000334958:E875D	E	+	3	2	RLTPR	66243361	0.933000	0.31639	0.992000	0.48379	0.939000	0.58152	0.049000	0.14099	-0.258000	0.09446	-0.809000	0.03173	GAG	RLTPR	-	NULL		0.602	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67685860	+1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.994	C
RMI1	80010	genome.wustl.edu	37	9	86617085	86617085	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:86617085G>C	ENST00000325875.3	+	3	1516	c.1184G>C	c.(1183-1185)aGa>aCa	p.R395T		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	395					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATCTGTTAGAGACCAAAAC	0.289																																																	0													57.0	62.0	60.0					9																	86617085		2190	4280	6470	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1184G>C	9.37:g.86617085G>C	ENSP00000317039:p.Arg395Thr		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.R395T	ENST00000325875.3	37	c.1184	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	0.394	-0.921975	0.02396	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.52295	0.67;1.41	5.42	2.51	0.30379	.	0.520258	0.19187	N	0.120527	T	0.29223	0.0727	L	0.34521	1.04	0.23669	N	0.997151	B	0.11235	0.004	B	0.10450	0.005	T	0.15636	-1.0430	10	0.21540	T	0.41	7.2864	2.9033	0.05713	0.1951:0.1294:0.5424:0.1331	.	395	Q9H9A7	RMI1_HUMAN	T	395	ENSP00000402433:R395T;ENSP00000317039:R395T	ENSP00000317039:R395T	R	+	2	0	RMI1	85806905	0.981000	0.34729	0.292000	0.24919	0.081000	0.17604	1.580000	0.36547	0.320000	0.23234	-0.169000	0.13324	AGA	RMI1	-	NULL		0.289	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	G	NM_024945		86617085	+1	no_errors	ENST00000325875	ensembl	human	known	70_37	missense	SNP	0.724	C
RND2	8153	genome.wustl.edu	37	17	41178062	41178062	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:41178062C>G	ENST00000587250.2	+	2	295	c.188C>G	c.(187-189)tCa>tGa	p.S63*	RND2_ENST00000544533.1_Nonsense_Mutation_p.S63*			P52198	RND2_HUMAN	Rho family GTPase 2	63					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGGACACTTCAGGTAGCCAA	0.572																																																	0													84.0	72.0	76.0					17																	41178062		2203	4300	6503	SO:0001587	stop_gained	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.188C>G	17.37:g.41178062C>G	ENSP00000466680:p.Ser63*		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S63*	ENST00000587250.2	37	c.188	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.873192	0.97049	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	.	.	.	3.97	3.97	0.46021	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.6987	0.62595	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000225973:S63X	S	+	2	0	RND2	38431588	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.274000	0.78538	2.204000	0.70986	0.555000	0.69702	TCA	RND2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.572	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2	C	NM_005440		41178062	+1	no_errors	ENST00000544533	ensembl	human	known	70_37	nonsense	SNP	1.000	G
RNF43	54894	genome.wustl.edu	37	17	56435412	56435412	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:56435412G>A	ENST00000584437.1	-	8	3680	c.1725C>T	c.(1723-1725)gtC>gtT	p.V575V	RNF43_ENST00000581868.1_Silent_p.V448V|RNF43_ENST00000577625.1_Silent_p.V448V|RNF43_ENST00000583753.1_Silent_p.V534V|RNF43_ENST00000500597.2_Silent_p.V534V|RNF43_ENST00000407977.2_Silent_p.V575V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.V575V			Q68DV7	RNF43_HUMAN	ring finger protein 43	575	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACTGGGGGACTCCGGTTT	0.622																																																	0													64.0	74.0	71.0					17																	56435412		2202	4300	6502	SO:0001819	synonymous_variant	54894				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1725C>T	17.37:g.56435412G>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V575	ENST00000584437.1	37	c.1725	CCDS11607.1	17																																																																																			RNF43	-	NULL		0.622	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	G	NM_017763		56435412	-1	no_errors	ENST00000407977	ensembl	human	known	70_37	silent	SNP	0.000	A
RNF213	57674	genome.wustl.edu	37	17	78336962	78336962	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:78336962G>A	ENST00000582970.1	+	40	11559	c.11416G>A	c.(11416-11418)Gag>Aag	p.E3806K	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E3855K|RNF213_ENST00000336301.6_Missense_Mutation_p.E1879K|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3806					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGCGCCCGAGGAAGAGGT	0.473																																																	0													68.0	71.0	70.0					17																	78336962		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11416G>A	17.37:g.78336962G>A	ENSP00000464087:p.Glu3806Lys		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E3806K	ENST00000582970.1	37	c.11416	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728936	0.48833	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22539	1.95	5.59	3.52	0.40303	.	0.597392	0.18090	N	0.152005	T	0.27559	0.0677	M	0.70595	2.14	0.09310	N	1	P;P	0.52170	0.951;0.935	B;B	0.42738	0.396;0.222	T	0.13791	-1.0496	10	0.29301	T	0.29	.	15.899	0.79359	0.0:0.2563:0.7437:0.0	.	3855;1879	C9JCP4;Q63HN8	.;RN213_HUMAN	K	3806;3855;1879	ENSP00000338218:E1879K	ENSP00000338218:E1879K	E	+	1	0	RNF213	75951557	0.989000	0.36119	0.003000	0.11579	0.025000	0.11179	2.745000	0.47459	0.660000	0.30964	0.655000	0.94253	GAG	RNF213	-	NULL		0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78336962	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.008	A
RORC	6097	genome.wustl.edu	37	1	151785550	151785550	+	Intron	SNP	G	G	A	rs202022674		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:151785550G>A	ENST00000318247.6	-	9	1282				RORC_ENST00000392697.3_Intron|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Intron	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C						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)			GAGTGGAAATGAGAAAAGTGA	0.547																																																	0													72.0	60.0	64.0					1																	151785550		2203	4300	6503	SO:0001627	intron_variant	6097			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.1175-17C>T	1.37:g.151785550G>A			Q5SZR9|Q8N5V7|Q8NCY8	RNA	SNP	-	NULL	ENST00000318247.6	37	NULL	CCDS1004.1	1																																																																																			RORC	-	-		0.547	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	G			151785550	-1	no_errors	ENST00000480719	ensembl	human	known	70_37	rna	SNP	0.000	A
RP1L1	94137	genome.wustl.edu	37	8	10469371	10469371	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:10469371G>A	ENST00000382483.3	-	4	2460	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	746					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AACAAAATCCGAGTGGACTGC	0.652																																																	0													47.0	55.0	52.0					8																	10469371		1997	4156	6153	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2237C>T	8.37:g.10469371G>A	ENSP00000371923:p.Ser746Leu		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S746L	ENST00000382483.3	37	c.2237	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299756	0.60195	.	.	ENSG00000183638	ENST00000382483	T	0.06608	3.28	4.61	4.61	0.57282	.	0.607950	0.12606	N	0.454287	T	0.14227	0.0344	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.11036	-1.0604	10	0.87932	D	0	-4.1552	12.807	0.57619	0.0:0.0:1.0:0.0	.	746	A6NKC6	.	L	746	ENSP00000371923:S746L	ENSP00000371923:S746L	S	-	2	0	RP1L1	10506781	0.046000	0.20272	0.042000	0.18584	0.012000	0.07955	2.167000	0.42415	2.393000	0.81446	0.462000	0.41574	TCG	RP1L1	-	NULL		0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	G			10469371	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.040	A
RPA4	29935	genome.wustl.edu	37	X	96139472	96139472	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139472C>T	ENST00000373040.3	+	1	566	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	55					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GAACCAGCTTCTCAGCTCTAC	0.483								Other identified genes with known or suspected DNA repair function																																									0													156.0	130.0	139.0					X																	96139472		2203	4300	6503	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.163C>T	X.37:g.96139472C>T	ENSP00000362131:p.Leu55Phe		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.L55F	ENST00000373040.3	37	c.163	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228696	0.39399	.	.	ENSG00000204086	ENST00000373040	T	0.50277	0.75	3.42	2.56	0.30785	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.33059	0.0850	L	0.52905	1.665	0.09310	N	1	P	0.47545	0.897	B	0.30251	0.113	T	0.34378	-0.9831	9	0.87932	D	0	-23.626	5.7188	0.17974	0.0:0.8505:0.0:0.1495	.	55	Q13156	RFA4_HUMAN	F	55	ENSP00000362131:L55F	ENSP00000362131:L55F	L	+	1	0	RPA4	96026128	0.946000	0.32159	0.099000	0.21106	0.042000	0.13812	0.340000	0.19892	0.817000	0.34445	0.600000	0.82982	CTC	RPA4	-	superfamily_NA-bd_OB-fold-like,pirsf_RPA32		0.483	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139472	+1	no_errors	ENST00000373040	ensembl	human	known	70_37	missense	SNP	0.081	T
RPA4	29935	genome.wustl.edu	37	X	96139479	96139479	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139479C>T	ENST00000373040.3	+	1	573	c.170C>T	c.(169-171)tCt>tTt	p.S57F	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	57					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CTTCTCAGCTCTACTGTGTTT	0.473								Other identified genes with known or suspected DNA repair function																																									0													153.0	129.0	137.0					X																	96139479		2203	4300	6503	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.170C>T	X.37:g.96139479C>T	ENSP00000362131:p.Ser57Phe		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.S57F	ENST00000373040.3	37	c.170	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866000	0.32977	.	.	ENSG00000204086	ENST00000373040	T	0.47869	0.83	3.42	1.55	0.23275	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.46737	0.1408	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.55545	0.778	T	0.33701	-0.9858	9	0.87932	D	0	-15.4211	8.6292	0.33908	0.0:0.5431:0.4569:0.0	.	57	Q13156	RFA4_HUMAN	F	57	ENSP00000362131:S57F	ENSP00000362131:S57F	S	+	2	0	RPA4	96026135	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.725000	0.25970	0.271000	0.22005	0.600000	0.82982	TCT	RPA4	-	superfamily_NA-bd_OB-fold-like,pirsf_RPA32		0.473	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139479	+1	no_errors	ENST00000373040	ensembl	human	known	70_37	missense	SNP	0.000	T
RPA4	29935	genome.wustl.edu	37	X	96139684	96139684	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139684C>T	ENST00000373040.3	+	1	778	c.375C>T	c.(373-375)gtC>gtT	p.V125V	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	125					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GAGTATATGTCAAAGTGTTTG	0.448								Other identified genes with known or suspected DNA repair function																																									0													117.0	101.0	106.0					X																	96139684		2203	4300	6503	SO:0001819	synonymous_variant	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.375C>T	X.37:g.96139684C>T			Q3SY03	Silent	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.V125	ENST00000373040.3	37	c.375	CCDS35345.1	X																																																																																			RPA4	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32		0.448	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139684	+1	no_errors	ENST00000373040	ensembl	human	known	70_37	silent	SNP	0.056	T
RPA4	29935	genome.wustl.edu	37	X	96139912	96139912	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139912C>T	ENST00000373040.3	+	1	1006	c.603C>T	c.(601-603)atC>atT	p.I201I	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	201					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GCAATTTCATCCAGGACGAAG	0.517								Other identified genes with known or suspected DNA repair function																																									0													160.0	121.0	134.0					X																	96139912		2203	4300	6503	SO:0001819	synonymous_variant	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.603C>T	X.37:g.96139912C>T			Q3SY03	Silent	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.I201	ENST00000373040.3	37	c.603	CCDS35345.1	X																																																																																			RPA4	-	pfam_RPA_C,pirsf_RPA32		0.517	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139912	+1	no_errors	ENST00000373040	ensembl	human	known	70_37	silent	SNP	0.000	T
RPGR	6103	genome.wustl.edu	37	X	38156567	38156567	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:38156567C>T	ENST00000339363.3	-	11	1551	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	RPGR_ENST00000378505.2_Missense_Mutation_p.E462K|RPGR_ENST00000338898.3_Missense_Mutation_p.E462K|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.E462K|RPGR_ENST00000309513.3_Missense_Mutation_p.E400K|RPGR_ENST00000318842.7_Missense_Mutation_p.E462K			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	462					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGTCCTGTTCAGATAAGACA	0.433																																																	0													117.0	108.0	111.0					X																	38156567		2202	4300	6502	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1384G>A	X.37:g.38156567C>T	ENSP00000343671:p.Glu462Lys		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E462K	ENST00000339363.3	37	c.1384		X	.	.	.	.	.	.	.	.	.	.	C	4.808	0.150294	0.09185	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.50001	1.27;0.96;0.76;1.33;1.33;1.31	3.61	-0.064	0.13774	.	1.730580	0.03267	N	0.184140	T	0.33904	0.0879	L	0.39898	1.24	0.09310	N	1	B;B	0.27656	0.184;0.021	B;B	0.22753	0.041;0.013	T	0.10042	-1.0647	10	0.06625	T	0.88	.	6.297	0.21091	0.0:0.2727:0.0:0.7273	.	462;462	E9PE28;Q92834-2	.;.	K	462;400;462;462;462;462	ENSP00000343671:E462K;ENSP00000308783:E400K;ENSP00000340208:E462K;ENSP00000322219:E462K;ENSP00000339531:E462K;ENSP00000367766:E462K	ENSP00000308783:E400K	E	-	1	0	RPGR	38041511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.037000	0.12164	-0.160000	0.11002	-0.387000	0.06579	GAA	RPGR	-	NULL		0.433	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38156567	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	missense	SNP	0.000	T
RPA4	29935	genome.wustl.edu	37	X	96139949	96139949	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:96139949C>T	ENST00000373040.3	+	1	1043	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	214					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TGAGTGTCCTCATCAGGAAGG	0.522								Other identified genes with known or suspected DNA repair function																																									0													145.0	115.0	125.0					X																	96139949		2203	4300	6503	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.640C>T	X.37:g.96139949C>T	ENSP00000362131:p.His214Tyr		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.H214Y	ENST00000373040.3	37	c.640	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926839	0.18056	.	.	ENSG00000204086	ENST00000373040	T	0.43688	0.94	3.39	1.57	0.23409	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.22880	0.042	T	0.20706	-1.0267	9	0.59425	D	0.04	-9.3099	4.0077	0.09608	0.0:0.6158:0.2426:0.1416	.	214	Q13156	RFA4_HUMAN	Y	214	ENSP00000362131:H214Y	ENSP00000362131:H214Y	H	+	1	0	RPA4	96026605	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.320000	0.19540	0.286000	0.22352	0.513000	0.50165	CAT	RPA4	-	pfam_RPA_C,pirsf_RPA32		0.522	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	C	NM_013347		96139949	+1	no_errors	ENST00000373040	ensembl	human	known	70_37	missense	SNP	0.001	T
RPS6KB2	6199	genome.wustl.edu	37	11	67200648	67200648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:67200648G>A	ENST00000312629.5	+	9	804	c.759G>A	c.(757-759)tgG>tgA	p.W253*	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGGACTGGTGGAGCCTGGGGG	0.682																																																	0													15.0	18.0	17.0					11																	67200648		1955	4127	6082	SO:0001587	stop_gained	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.759G>A	11.37:g.67200648G>A	ENSP00000308413:p.Trp253*		B2RMZ9|B4DML8|O94809|Q9UEC1	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.W253*	ENST00000312629.5	37	c.759	CCDS41677.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.085085	0.94100	.	.	ENSG00000175634	ENST00000312629	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8166	0.88637	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000308413:W253X	W	+	3	0	RPS6KB2	66957224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.942000	0.92970	2.521000	0.84997	0.561000	0.74099	TGG	RPS6KB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom		0.682	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	G	NM_003952		67200648	+1	no_errors	ENST00000312629	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RUNX1T1	862	genome.wustl.edu	37	8	92972690	92972690	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:92972690G>A	ENST00000523629.1	-	12	2049	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	532					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACAGTATCGGGCTGTGTTACA	0.517																																																	0													73.0	68.0	70.0					8																	92972690		2203	4300	6503	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1595C>T	8.37:g.92972690G>A	ENSP00000428543:p.Ala532Val		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A543V	ENST00000523629.1	37	c.1628	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779481	0.90195	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.35973	1.3;1.29;1.3;1.3;1.3;1.3;1.28;1.29	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	N	0.25426	0.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.98	D;D;D;D	0.97110	1.0;0.997;1.0;0.94	T	0.49093	-0.8975	10	0.54805	T	0.06	-17.7479	20.1802	0.98196	0.0:0.0:1.0:0.0	.	543;495;532;505	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	532;505;532;495;495;495;543;505	ENSP00000428543:A532V;ENSP00000379520:A505V;ENSP00000265814:A532V;ENSP00000353504:A495V;ENSP00000390137:A495V;ENSP00000428742:A495V;ENSP00000402257:A543V;ENSP00000430728:A505V	ENSP00000265814:A532V	A	-	2	0	RUNX1T1	93041866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	GCC	RUNX1T1	-	pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		92972690	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	missense	SNP	1.000	A
RUNX1T1	862	genome.wustl.edu	37	8	93027008	93027008	+	Silent	SNP	G	G	A	rs144377527		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:93027008G>A	ENST00000523629.1	-	4	721	c.267C>T	c.(265-267)ggC>ggT	p.G89G	RUNX1T1_ENST00000396218.1_Silent_p.G62G|RUNX1T1_ENST00000521553.1_Silent_p.G52G|RUNX1T1_ENST00000518844.1_Silent_p.G62G|RUNX1T1_ENST00000360348.2_Silent_p.G52G|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000436581.2_Silent_p.G100G|RUNX1T1_ENST00000265814.3_Silent_p.G89G|RUNX1T1_ENST00000422361.2_Silent_p.G52G|RUNX1T1_ENST00000520724.1_Silent_p.G52G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	89					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGAGGGGGCGCCATTCAAGG	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16937	0.0		0.0	False		,,,				2504	0.0																0								G	,,,,,,,,,,,,,,	6,4400	11.4+/-27.6	0,6,2197	49.0	53.0	52.0		186,267,267,267,267,267,267,186,207,300,444,186,267,156,156	-1.9	1.0	8	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RUNX1T1	NM_001198625.1,NM_001198626.1,NM_001198627.1,NM_001198628.1,NM_001198629.1,NM_001198630.1,NM_001198631.1,NM_001198632.1,NM_001198633.1,NM_001198634.1,NM_001198679.1,NM_004349.3,NM_175634.2,NM_175635.2,NM_175636.2	,,,,,,,,,,,,,,	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	,,,,,,,,,,,,,,	62/578,89/605,89/605,89/605,89/605,89/605,89/605,62/578,69/585,100/616,148/664,62/578,89/605,52/568,52/568	93027008	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.267C>T	8.37:g.93027008G>A			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.G100	ENST00000523629.1	37	c.300	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93027008	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	silent	SNP	0.876	A
RUSC2	9853	genome.wustl.edu	37	9	35546837	35546837	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:35546837G>A	ENST00000455600.1	+	2	888	c.319G>A	c.(319-321)Gag>Aag	p.E107K	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	107						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTTGCTGCAGGAGGGTGTGGG	0.587																																																	0													96.0	81.0	86.0					9																	35546837		2203	4300	6503	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.319G>A	9.37:g.35546837G>A	ENSP00000393922:p.Glu107Lys		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.E107K	ENST00000455600.1	37	c.319	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426077	0.43020	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.25912	1.77;1.77	5.3	4.41	0.53225	.	0.484707	0.23384	N	0.048770	T	0.19846	0.0477	L	0.29908	0.895	0.39728	D	0.971565	B	0.26635	0.155	B	0.24155	0.051	T	0.05818	-1.0862	10	0.66056	D	0.02	-3.9506	11.7571	0.51882	0.0865:0.0:0.9134:0.0	.	107	Q8N2Y8	RUSC2_HUMAN	K	107	ENSP00000355177:E107K;ENSP00000393922:E107K	ENSP00000355177:E107K	E	+	1	0	RUSC2	35536837	1.000000	0.71417	0.908000	0.35775	0.905000	0.53344	5.879000	0.69690	1.242000	0.43836	0.561000	0.74099	GAG	RUSC2	-	NULL		0.587	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35546837	+1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23907093	23907093	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:23907093G>C	ENST00000382292.3	-	9	11195	c.10922C>G	c.(10921-10923)tCt>tGt	p.S3641C	SACS_ENST00000402364.1_Missense_Mutation_p.S2891C|SACS_ENST00000382298.3_Missense_Mutation_p.S3641C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3641					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAATTTCCAGATAACAAATC	0.368																																																	0													39.0	44.0	42.0					13																	23907093		2202	4298	6500	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10922C>G	13.37:g.23907093G>C	ENSP00000371729:p.Ser3641Cys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S3641C	ENST00000382292.3	37	c.10922	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101315	0.37048	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88741	-2.26;-2.42;-2.26	6.04	5.2	0.72013	.	0.385815	0.30410	N	0.009696	D	0.82866	0.5130	N	0.19112	0.55	0.24966	N	0.991698	P	0.40660	0.726	B	0.40101	0.319	T	0.77474	-0.2574	10	0.56958	D	0.05	.	15.3763	0.74607	0.0664:0.0:0.9336:0.0	.	3641	Q9NZJ4	SACS_HUMAN	C	3641;2891;3641	ENSP00000371729:S3641C;ENSP00000385844:S2891C;ENSP00000371735:S3641C	ENSP00000371729:S3641C	S	-	2	0	SACS	22805093	1.000000	0.71417	0.944000	0.38274	0.885000	0.51271	3.340000	0.52143	1.576000	0.49790	0.563000	0.77884	TCT	SACS	-	NULL		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23907093	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	0.783	C
SAMD4A	23034	genome.wustl.edu	37	14	55231202	55231202	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:55231202G>A	ENST00000554335.1	+	8	2203	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	SAMD4A_ENST00000392067.3_Missense_Mutation_p.D514N|SAMD4A_ENST00000555192.1_Missense_Mutation_p.D105N|SAMD4A_ENST00000251091.5_Missense_Mutation_p.D426N|SAMD4A_ENST00000357634.3_Missense_Mutation_p.D513N			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	514					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTCCAGACCTGATGAGGAAAA	0.358																																																	0													165.0	173.0	170.0					14																	55231202		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1540G>A	14.37:g.55231202G>A	ENSP00000452535:p.Asp514Asn		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.D514N	ENST00000554335.1	37	c.1540	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	G	32	5.139709	0.94560	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	4.78	4.78	0.61160	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.72118	2.19	0.58432	D	0.99999	P;D;P	0.71674	0.887;0.998;0.483	P;D;B	0.69142	0.811;0.962;0.146	T	0.80892	-0.1179	9	0.72032	D	0.01	-17.3663	17.9997	0.89195	0.0:0.0:1.0:0.0	.	105;426;514	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	N	514;514;426;425;513;105	.	ENSP00000251091:D143N	D	+	1	0	SAMD4A	54300952	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	9.246000	0.95438	2.492000	0.84095	0.514000	0.50259	GAT	SAMD4A	-	NULL		0.358	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	G	NM_015589		55231202	+1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	A
SAMM50	25813	genome.wustl.edu	37	22	44368762	44368762	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:44368762C>T	ENST00000350028.4	+	6	598	c.441C>T	c.(439-441)ctC>ctT	p.L147L	SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	147					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TACTTGGCCTCAAGCTTCCTA	0.423																																																	0													123.0	132.0	129.0					22																	44368762		2203	4300	6503	SO:0001819	synonymous_variant	25813			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.441C>T	22.37:g.44368762C>T			Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	pfam_Bac_surfAg_D15	p.L147	ENST00000350028.4	37	c.441	CCDS14055.1	22																																																																																			SAMM50	-	NULL		0.423	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	C	NM_015380		44368762	+1	no_errors	ENST00000350028	ensembl	human	known	70_37	silent	SNP	1.000	T
SASS6	163786	genome.wustl.edu	37	1	100598423	100598423	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:100598423C>T	ENST00000287482.5	-	0	88				TRMT13_ENST00000370139.1_5'Flank|SASS6_ENST00000535161.1_5'UTR|SASS6_ENST00000462159.1_5'UTR|TRMT13_ENST00000370141.2_5'Flank|TRMT13_ENST00000370143.1_5'Flank	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)						centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GCCCGGCCCTCGGGATTAGCC	0.602																																																	0													33.0	30.0	31.0					1																	100598423		692	1591	2283	SO:0001623	5_prime_UTR_variant	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.-53G>A	1.37:g.100598423C>T			D3DT55|Q8N3K0	RNA	SNP	-	NULL	ENST00000287482.5	37	NULL	CCDS764.1	1																																																																																			SASS6	-	-		0.602	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	C	NM_194292		100598423	-1	no_errors	ENST00000462159	ensembl	human	known	70_37	rna	SNP	0.001	T
SCARF1	8578	genome.wustl.edu	37	17	1538734	1538734	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:1538734C>T	ENST00000263071.4	-	11	1860	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R518Q	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	604	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGAGCTTCGGCGACTCTG	0.677																																																	0													59.0	62.0	61.0					17																	1538734		2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1811G>A	17.37:g.1538734C>T	ENSP00000263071:p.Arg604Gln		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.R604Q	ENST00000263071.4	37	c.1811	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837474	0.32513	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.34859	1.34;1.34	5.21	1.64	0.23874	.	0.681392	0.12151	N	0.494919	T	0.26882	0.0658	L	0.40543	1.245	0.27555	N	0.950367	B;B	0.31968	0.341;0.349	B;B	0.20955	0.029;0.032	T	0.10567	-1.0624	10	0.45353	T	0.12	-3.5912	11.542	0.50672	0.0:0.7674:0.0:0.2326	.	518;604	Q14162-2;Q14162	.;SREC_HUMAN	Q	604;518	ENSP00000263071:R604Q;ENSP00000323964:R518Q	ENSP00000263071:R604Q	R	-	2	0	SCARF1	1485484	0.001000	0.12720	0.983000	0.44433	0.355000	0.29361	0.574000	0.23714	0.595000	0.29777	-0.266000	0.10368	CGA	SCARF1	-	NULL		0.677	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	C	NM_003693		1538734	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	0.970	T
SCN10A	6336	genome.wustl.edu	37	3	38739815	38739815	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:38739815C>T	ENST00000449082.2	-	27	4895	c.4896G>A	c.(4894-4896)gtG>gtA	p.V1632V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1632					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCTCCCACCTCACATGGGGAA	0.552																																																	0													174.0	161.0	165.0					3																	38739815		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4896G>A	3.37:g.38739815C>T			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.V1632	ENST00000449082.2	37	c.4896	CCDS33736.1	3																																																																																			SCN10A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	C	NM_006514		38739815	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	silent	SNP	0.019	T
SCO2	9997	genome.wustl.edu	37	22	50962744	50962744	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:50962744G>C	ENST00000543927.1	-	2	303	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	SCO2_ENST00000395693.3_Missense_Mutation_p.L33V|SCO2_ENST00000252785.3_Missense_Mutation_p.L33V|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Missense_Mutation_p.L33V	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	33					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGACCTCAGATGCAGGGCC	0.667																																																	0													20.0	23.0	22.0					22																	50962744		2191	4272	6463	SO:0001583	missense	9997			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.97C>G	22.37:g.50962744G>C	ENSP00000444433:p.Leu33Val		Q3T1B5|Q9UK87	Missense_Mutation	SNP	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.L33V	ENST00000543927.1	37	c.97	CCDS14095.1	22	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.425597	0.01126	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785;ENST00000439934;ENST00000423348	D;D;D;D;T;T	0.83591	-1.74;-1.74;-1.74;-1.74;-0.58;-0.58	3.28	-6.57	0.01842	.	1.174460	0.06747	N	0.779294	T	0.54159	0.1841	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	10	0.29301	T	0.29	-0.8505	0.7238	0.00945	0.157:0.2133:0.2697:0.3601	.	33	O43819	SCO2_HUMAN	V	33	ENSP00000379046:L33V;ENSP00000444433:L33V;ENSP00000444242:L33V;ENSP00000252785:L33V;ENSP00000415642:L33V;ENSP00000403570:L33V	ENSP00000252785:L33V	L	-	1	2	SCO2	49309610	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.631000	0.00871	-1.291000	0.02368	-0.440000	0.05779	CTG	SCO2	-	pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.667	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO2	HGNC	protein_coding	OTTHUMT00000317091.1	G	NM_005138		50962744	-1	no_errors	ENST00000252785	ensembl	human	known	70_37	missense	SNP	0.000	C
SCRIB	23513	genome.wustl.edu	37	8	144874460	144874460	+	Missense_Mutation	SNP	C	C	T	rs369876190		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:144874460C>T	ENST00000320476.3	-	32	4450	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K	SCRIB_ENST00000356994.2_Missense_Mutation_p.E1482K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E1401K|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1482					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGCACGCTCGGGTGCCGGT	0.761																																					Pancreas(51;966 1133 10533 14576 29674)												0								C	LYS/GLU,LYS/GLU	1,3915		0,1,1957	3.0	5.0	4.0		4444,4444	4.7	0.8	8		4	0,7850		0,0,3925	no	missense,missense	SCRIB	NM_015356.3,NM_182706.3	56,56	0,1,5882	TT,TC,CC		0.0,0.0255,0.0085	benign,benign	1482/1631,1482/1656	144874460	1,11765	1958	3925	5883	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4444G>A	8.37:g.144874460C>T	ENSP00000322938:p.Glu1482Lys		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E1482K	ENST00000320476.3	37	c.4444	CCDS6411.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.840734|3.840734	0.71488|0.71488	2.55E-4|2.55E-4	0.0|0.0	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533|ENST00000526832	T;T;T|.	0.44881|.	1.12;1.07;0.91|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|.	.|.	.|.	.|.	T|T	0.73776|0.73776	0.3630|0.3630	M|M	0.71581|0.71581	2.175|2.175	0.42183|0.42183	D|D	0.991698|0.991698	P;D;P|.	0.54047|.	0.923;0.964;0.954|.	B;P;B|.	0.44597|.	0.207;0.454;0.374|.	T|T	0.75139|0.75139	-0.3423|-0.3423	9|5	0.49607|.	T|.	0.09|.	.|.	16.17|16.17	0.81801|0.81801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1482;1482;1401|.	Q14160;Q14160-3;Q14160-2|.	SCRIB_HUMAN;.;.|.	K|Q	1482;1482;1401|501	ENSP00000349486:E1482K;ENSP00000322938:E1482K;ENSP00000366756:E1401K|.	ENSP00000322938:E1482K|.	E|R	-|-	1|2	0|0	SCRIB|SCRIB	144946448|144946448	1.000000|1.000000	0.71417|0.71417	0.802000|0.802000	0.32245|0.32245	0.463000|0.463000	0.32649|0.32649	7.064000|7.064000	0.76721|0.76721	2.165000|2.165000	0.68154|0.68154	0.556000|0.556000	0.70494|0.70494	GAG|CGA	SCRIB	-	NULL		0.761	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	C	NM_015356		144874460	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	T
SDC1	6382	genome.wustl.edu	37	2	20403710	20403710	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:20403710G>C	ENST00000254351.4	-	3	735	c.491C>G	c.(490-492)aCc>aGc	p.T164S	SDC1_ENST00000381150.1_Missense_Mutation_p.T164S|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	164					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		AGGGGTTGAGGTCTCATGGTG	0.657																																																	0													109.0	104.0	106.0					2																	20403710		2203	4300	6503	SO:0001583	missense	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.491C>G	2.37:g.20403710G>C	ENSP00000254351:p.Thr164Ser		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	pfam_Syndecan,smart_Neurexin-like	p.T164S	ENST00000254351.4	37	c.491	CCDS1697.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758553	0.31137	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000429035	T;T;T	0.35236	2.18;2.18;1.32	3.87	2.99	0.34606	.	0.226640	0.30732	N	0.008987	T	0.44912	0.1316	M	0.65975	2.015	0.29456	N	0.858107	P	0.51653	0.947	P	0.53360	0.724	T	0.45145	-0.9281	10	0.87932	D	0	-20.3807	7.645	0.28315	0.1153:0.0:0.8847:0.0	.	164	P18827	SDC1_HUMAN	S	164;164;172	ENSP00000254351:T164S;ENSP00000370542:T164S;ENSP00000400773:T172S	ENSP00000254351:T164S	T	-	2	0	SDC1	20267191	0.452000	0.25713	0.925000	0.36789	0.205000	0.24178	1.189000	0.32114	1.215000	0.43411	0.561000	0.74099	ACC	SDC1	-	pfam_Syndecan		0.657	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1	G	NM_001006946		20403710	-1	no_errors	ENST00000254351	ensembl	human	known	70_37	missense	SNP	0.938	C
SDHC	6391	genome.wustl.edu	37	1	161284265	161284265	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:161284265G>C	ENST00000367975.2	+	1	169				SDHC_ENST00000392169.2_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Intron|SDHC_ENST00000342751.4_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CCGGAGATCTGAACTGGCCCC	0.607			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1q21	6391	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""		O	0													46.0	42.0	43.0					1																	161284265		2203	4300	6503	SO:0001627	intron_variant	6391	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.20+50G>C	1.37:g.161284265G>C			O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	RNA	SNP	-	NULL	ENST00000367975.2	37	NULL	CCDS1230.1	1																																																																																			SDHC	-	-		0.607	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHC	HGNC	protein_coding	OTTHUMT00000083316.2	G	NM_003001		161284265	+1	no_errors	ENST00000515731	ensembl	human	known	70_37	rna	SNP	0.000	C
SDK2	54549	genome.wustl.edu	37	17	71354291	71354291	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:71354291G>A	ENST00000392650.3	-	40	5520	c.5520C>T	c.(5518-5520)atC>atT	p.I1840I	SDK2_ENST00000388726.3_Silent_p.I1821I|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1840	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGTGAATGGCGATGGCAGAGC	0.657																																																	0													144.0	131.0	135.0					17																	71354291		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5520C>T	17.37:g.71354291G>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1840	ENST00000392650.3	37	c.5520	CCDS45769.1	17																																																																																			SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	G	NM_019064		71354291	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	silent	SNP	0.999	A
SEC31A	22872	genome.wustl.edu	37	4	83745823	83745823	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:83745823A>G	ENST00000395310.2	-	25	3478	c.3296T>C	c.(3295-3297)gTg>gCg	p.V1099A	SEC31A_ENST00000509142.1_Missense_Mutation_p.V985A|SEC31A_ENST00000311785.7_Missense_Mutation_p.V985A|SEC31A_ENST00000326950.5_Missense_Mutation_p.V1060A|SEC31A_ENST00000505472.1_Missense_Mutation_p.V1130A|SEC31A_ENST00000448323.1_Missense_Mutation_p.V1099A|SEC31A_ENST00000355196.2_Missense_Mutation_p.V1099A|SEC31A_ENST00000432794.1_Missense_Mutation_p.V1112A|SEC31A_ENST00000443462.2_Missense_Mutation_p.V1079A|SEC31A_ENST00000500777.2_Missense_Mutation_p.V946A|SEC31A_ENST00000348405.4_Missense_Mutation_p.V1060A|SEC31A_ENST00000505984.1_Missense_Mutation_p.V1045A|SEC31A_ENST00000513858.1_Missense_Mutation_p.V946A|SEC31A_ENST00000508502.1_Missense_Mutation_p.V1084A|SEC31A_ENST00000264405.5_Missense_Mutation_p.V848A	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)	1099	Interaction with PDCD6.				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)				CAAAGACTGCACATGCTGGAA	0.383																																																	0													129.0	128.0	128.0					4																	83745823		2203	4300	6503	SO:0001583	missense	22872			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.3296T>C	4.37:g.83745823A>G	ENSP00000378721:p.Val1099Ala		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1112A	ENST00000395310.2	37	c.3335	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.775184|4.775184	0.90108|0.90108	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37915	.|1.42;1.17;2.49;2.38;1.23;2.46;2.49;1.42;1.23;1.29;1.17;2.37;2.49;3.3;2.34	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.072661	.|0.56097	.|D	.|0.000024	T|T	0.39226|0.39226	0.1070|0.1070	L|L	0.27053|0.27053	0.805|0.805	0.29406|0.29406	N|N	0.861598|0.861598	.|P;P;P;P;P;P;P;P;P	.|0.46952	.|0.72;0.745;0.739;0.887;0.739;0.816;0.72;0.874;0.708	.|B;B;B;P;B;P;B;P;P	.|0.53912	.|0.278;0.251;0.291;0.469;0.291;0.469;0.278;0.737;0.469	T|T	0.23511|0.23511	-1.0186|-1.0186	5|10	.|0.19590	.|T	.|0.45	-14.5458|-14.5458	15.9009|15.9009	0.79377|0.79377	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1079;1045;946;1060;985;1084;1099;848;1112	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	R|A	262|1060;946;1099;1079;985;1112;1099;1060;985;1130;946;1084;1099;848;1045	.|ENSP00000337602:V1060A;ENSP00000426886:V946A;ENSP00000378721:V1099A;ENSP00000408027:V1079A;ENSP00000426569:V985A;ENSP00000407944:V1112A;ENSP00000400926:V1099A;ENSP00000325087:V1060A;ENSP00000309070:V985A;ENSP00000421633:V1130A;ENSP00000421464:V946A;ENSP00000424635:V1084A;ENSP00000347329:V1099A;ENSP00000264405:V848A;ENSP00000424451:V1045A	.|ENSP00000264405:V848A	C|V	-|-	1|2	0|0	SEC31A|SEC31A	83964847|83964847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.095000|9.095000	0.94175|0.94175	2.173000|2.173000	0.68751|0.68751	0.533000|0.533000	0.62120|0.62120	TGC|GTG	SEC31A	-	NULL		0.383	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	A	NM_016211		83745823	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	G
SEMA4B	10509	genome.wustl.edu	37	15	90744874	90744874	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:90744874C>T	ENST00000411539.2	+	1	324	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	SEMA4B_ENST00000332496.6_Missense_Mutation_p.R22W|SEMA4B_ENST00000379122.3_Missense_Mutation_p.R17W	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	17					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GCTGCCGCCTCGGCCACCgct	0.746																																																	0													2.0	2.0	2.0					15																	90744874		1339	2935	4274	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.64C>T	15.37:g.90744874C>T	ENSP00000394720:p.Arg22Trp		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.R22W	ENST00000411539.2	37	c.64	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986400	0.35036	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.22945	1.93;2.13;1.93	2.3	-1.32	0.09201	.	7.180680	0.01130	N	0.005977	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P;P	0.45396	0.857;0.857	B;B	0.19666	0.026;0.026	T	0.37314	-0.9711	10	0.37606	T	0.19	.	10.1497	0.42784	0.0:0.3076:0.6924:0.0	.	22;17	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	W	22;17;22	ENSP00000332204:R22W;ENSP00000368417:R17W;ENSP00000394720:R22W	ENSP00000332204:R22W	R	+	1	2	SEMA4B	88545878	0.159000	0.22864	0.000000	0.03702	0.001000	0.01503	-1.391000	0.02525	-0.292000	0.08999	0.557000	0.71058	CGG	SEMA4B	-	NULL		0.746	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	C	NM_198925		90744874	+1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	0.000	T
SEPT11	55752	genome.wustl.edu	37	4	77917577	77917577	+	Splice_Site	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:77917577G>C	ENST00000264893.6	+	2	228		c.e2-1		SEPT11_ENST00000541121.1_Splice_Site|SEPT11_ENST00000505788.1_Splice_Site|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Splice_Site|SEPT11_ENST00000510515.1_Splice_Site	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11						cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.?(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGAAATTGCAGAATGAAGAGC	0.428																																																	1	Unknown(1)	lung(1)											143.0	123.0	130.0					4																	77917577		2203	4300	6503	SO:0001630	splice_region_variant	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.28-1G>C	4.37:g.77917577G>C			B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Splice_Site	SNP	-	e2-1	ENST00000264893.6	37	c.58-1	CCDS34018.1	4	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480309	0.44044	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000504637;ENST00000512778;ENST00000541121	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2266	0.73357	0.0:0.1401:0.8599:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT11	78136601	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.513000	0.81739	2.668000	0.90789	0.585000	0.79938	.	SEPT11	-	-		0.428	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEPT11	HGNC	protein_coding	OTTHUMT00000362676.1	G	NM_018243	Intron	77917577	+1	no_errors	ENST00000541121	ensembl	human	known	70_37	splice_site	SNP	1.000	C
SERPINA3	12	genome.wustl.edu	37	14	95081252	95081252	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:95081252G>C	ENST00000467132.1	+	2	1622	c.474G>C	c.(472-474)aaG>aaC	p.K158N	SERPINA3_ENST00000393078.3_Missense_Mutation_p.K158N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K158N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	158					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGATGCCAAGAGGCTGTATG	0.517																																																	0													75.0	69.0	71.0					14																	95081252		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.474G>C	14.37:g.95081252G>C	ENSP00000450540:p.Lys158Asn		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K183N	ENST00000467132.1	37	c.549	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732633	0.48939	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.13	0.902	0.19290	Serpin domain (3);	2.232540	0.02321	N	0.073000	D	0.89413	0.6708	M	0.63208	1.945	0.09310	N	1	P;P	0.52061	0.95;0.489	P;B	0.62298	0.9;0.213	T	0.71427	-0.4596	10	0.87932	D	0	.	3.7649	0.08619	0.3059:0.3912:0.3029:0.0	.	158;183	P01011;G3V5I3	AACT_HUMAN;.	N	183;158;158;158;158	ENSP00000452367:K183N;ENSP00000376793:K158N;ENSP00000376795:K158N;ENSP00000450540:K158N	ENSP00000376793:K158N	K	+	3	2	SERPINA3	94151005	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.688000	0.25422	0.625000	0.30304	0.561000	0.74099	AAG	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	G	NM_001085		95081252	+1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	C
SERPING1	710	genome.wustl.edu	37	11	57379217	57379217	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:57379217C>G	ENST00000278407.4	+	7	1284	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V	SERPING1_ENST00000403558.1_Missense_Mutation_p.L396V|SERPING1_ENST00000378323.4_Missense_Mutation_p.L358V|SERPING1_ENST00000378324.2_Missense_Mutation_p.L301V|SERPING1_ENST00000340687.6_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	353					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTCCCACAATCTGAGTTTGGT	0.502																																																	0													151.0	141.0	144.0					11																	57379217		2201	4296	6497	SO:0001583	missense	710			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1057C>G	11.37:g.57379217C>G	ENSP00000278407:p.Leu353Val		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L353V	ENST00000278407.4	37	c.1057	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136931	0.21123	.	.	ENSG00000149131	ENST00000278407;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	4.69	3.77	0.43336	Serpin domain (3);	0.577722	0.17235	N	0.181765	D	0.84311	0.5444	M	0.77712	2.385	0.31217	N	0.697959	B;B	0.27264	0.085;0.173	B;B	0.30179	0.112;0.112	T	0.81688	-0.0819	10	0.36615	T	0.2	.	10.4625	0.44587	0.3521:0.6479:0.0:0.0	.	358;353	B4E1F0;P05155	.;IC1_HUMAN	V	353;358;301;396	ENSP00000278407:L353V;ENSP00000367574:L358V;ENSP00000367575:L301V;ENSP00000384420:L396V	ENSP00000278407:L353V	L	+	1	2	SERPING1	57135793	0.998000	0.40836	1.000000	0.80357	0.496000	0.33645	0.494000	0.22467	1.098000	0.41479	-0.268000	0.10319	CTG	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.502	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	C	NM_000062		57379217	+1	no_errors	ENST00000278407	ensembl	human	known	70_37	missense	SNP	1.000	G
SET	6418	genome.wustl.edu	37	9	131457727	131457727	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:131457727C>T	ENST00000372692.4	+	0	1898				SET_ENST00000322030.8_3'UTR	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene						DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		CTTTTTGTTTCACTGGAAAGG	0.303			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0																																										SO:0001624	3_prime_UTR_variant	6418			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.*784C>T	9.37:g.131457727C>T			A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	RNA	SNP	-	NULL	ENST00000372692.4	37	NULL	CCDS48037.1	9																																																																																			SET	-	-		0.303	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	C	NM_001122821		131457727	+1	no_errors	ENST00000494141	ensembl	human	known	70_37	rna	SNP	1.000	T
SFN	2810	genome.wustl.edu	37	1	27189709	27189709	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:27189709G>A	ENST00000339276.4	+	1	77	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCCATGGAGAGAGCCAGTC	0.627																																																	0													49.0	55.0	53.0					1																	27189709		2203	4300	6503	SO:0001819	synonymous_variant	2810			BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.6G>A	1.37:g.27189709G>A			B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E2	ENST00000339276.4	37	c.6	CCDS288.1	1																																																																																			SFN	-	superfamily_14-3-3_domain,pirsf_14-3-3		0.627	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFN	HGNC	protein_coding	OTTHUMT00000011709.1	G	NM_006142		27189709	+1	no_errors	ENST00000339276	ensembl	human	known	70_37	silent	SNP	0.984	A
SGK3	23678	genome.wustl.edu	37	8	67748022	67748022	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:67748022G>C	ENST00000396596.1	+	9	764	c.550G>C	c.(550-552)Gat>Cat	p.D184H	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.D184H|SGK3_ENST00000520976.1_Missense_Mutation_p.D184H|SGK3_ENST00000345714.4_Missense_Mutation_p.D184H|SGK3_ENST00000522398.1_Missense_Mutation_p.D184H|SGK3_ENST00000521198.2_Missense_Mutation_p.D184H	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACGGAAACTGGATGGAAAATT	0.289																																																	0													47.0	54.0	51.0					8																	67748022		2199	4294	6493	SO:0001583	missense	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.550G>C	8.37:g.67748022G>C	ENSP00000379842:p.Asp184His		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.D184H	ENST00000396596.1	37	c.550	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.138090	0.94560	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;T	0.67345	3.01;3.01;3.01;3.01;3.01;3.01;3.01;-0.26	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093021	0.64402	D	0.000001	T	0.78874	0.4352	M	0.66297	2.02	0.40733	D	0.982768	D;D	0.58970	0.984;0.962	P;P	0.58577	0.754;0.841	T	0.78247	-0.2278	9	0.48119	T	0.1	.	19.7305	0.96180	0.0:0.0:1.0:0.0	.	184;184	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	H	184;184;184;184;148;184;184;184;66;81	ENSP00000429022:D184H;ENSP00000430463:D184H;ENSP00000430256:D184H;ENSP00000430691:D184H;ENSP00000379842:D184H;ENSP00000331816:D184H;ENSP00000428529:D66H;ENSP00000429565:D81H	ENSP00000262211:D184H	D	+	1	0	SGK3	67910576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.662000	0.90505	0.650000	0.86243	GAT	SGK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.289	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	G			67748022	+1	no_errors	ENST00000262211	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA0100	9703	genome.wustl.edu	37	17	26938458	26938458	+	IGR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:26938458C>T	ENST00000528896.2	-	0	7407				RP11-192H23.4_ENST00000534850.1_3'UTR|SGK494_ENST00000301037.5_Missense_Mutation_p.D285N|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000469832.3_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GACCACCAATCAGCAGCATGG	0.493																																																	0																																										SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26938458C>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D285N	ENST00000528896.2	37	c.853	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517422	0.85495	.	.	ENSG00000167524	ENST00000301037	T	0.55760	0.5	5.45	4.48	0.54585	.	.	.	.	.	T	0.66025	0.2748	.	.	.	0.42263	D	0.992021	.	.	.	.	.	.	T	0.70769	-0.4782	6	0.87932	D	0	.	13.4036	0.60898	0.0:0.9241:0.0:0.0759	.	.	.	.	N	285	ENSP00000301037:D285N	ENSP00000301037:D285N	D	-	1	0	AC005726.6	23962585	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.470000	0.66756	1.310000	0.45006	0.467000	0.42956	GAT	SGK494	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK494	Uniprot_genename	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26938458	-1	no_errors	ENST00000301037	ensembl	human	known	70_37	missense	SNP	1.000	T
SHARPIN	81858	genome.wustl.edu	37	8	145154745	145154745	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:145154745C>G	ENST00000398712.2	-	4	956	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	174	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCCAGCTCTTCTGCAGGG	0.642																																																	0													38.0	42.0	41.0					8																	145154745		1983	4140	6123	SO:0001583	missense	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.520G>C	8.37:g.145154745C>G	ENSP00000381698:p.Glu174Gln		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E174Q	ENST00000398712.2	37	c.520	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876800	0.51801	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.35789	1.7;1.29	4.25	4.25	0.50352	.	0.218010	0.37669	N	0.001982	T	0.52757	0.1754	M	0.74881	2.28	0.52501	D	0.999957	D	0.63880	0.993	P	0.55508	0.777	T	0.60337	-0.7283	10	0.72032	D	0.01	.	14.19	0.65633	0.0:1.0:0.0:0.0	.	174	Q9H0F6	SHRPN_HUMAN	Q	174	ENSP00000381698:E174Q;ENSP00000352551:E174Q	ENSP00000352551:E174Q	E	-	1	0	SHARPIN	145226733	0.998000	0.40836	0.998000	0.56505	0.068000	0.16541	2.390000	0.44416	2.207000	0.71202	0.462000	0.41574	GAG	SHARPIN	-	NULL		0.642	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	C	NM_030974		145154745	-1	no_errors	ENST00000398712	ensembl	human	known	70_37	missense	SNP	1.000	G
SHD	56961	genome.wustl.edu	37	19	4280112	4280112	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:4280112C>T	ENST00000543264.2	+	1	1515	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	SHD_ENST00000599689.1_Missense_Mutation_p.P18S	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	18										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCCTCCGCAGCCGCC	0.667																																																	0													17.0	22.0	20.0					19																	4280112		2200	4299	6499	SO:0001583	missense	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.52C>T	19.37:g.4280112C>T	ENSP00000446058:p.Pro18Ser		Q96NC2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P18S	ENST00000543264.2	37	c.52	CCDS12125.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.448288	0.96205	.	.	ENSG00000105251	ENST00000543264	T	0.50548	0.74	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.74647	2.275	0.48452	D	0.999656	D	0.58970	0.984	P	0.60173	0.87	T	0.70861	-0.4757	10	0.87932	D	0	-6.8741	14.7082	0.69208	0.0:1.0:0.0:0.0	.	18	Q96IW2	SHD_HUMAN	S	18	ENSP00000446058:P18S	ENSP00000446058:P18S	P	+	1	0	SHD	4231112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.506000	0.73712	2.118000	0.64928	0.484000	0.47621	CCG	SHD	-	NULL		0.667	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SHD	HGNC	protein_coding	OTTHUMT00000458082.1	C	NM_020209		4280112	+1	no_errors	ENST00000543264	ensembl	human	known	70_37	missense	SNP	1.000	T
SHISA2	387914	genome.wustl.edu	37	13	26621171	26621171	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:26621171G>A	ENST00000319420.3	-	2	423	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	123					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GACAAACACGGAGCCAACAAT	0.547																																																	0													87.0	71.0	76.0					13																	26621171		2203	4300	6503	SO:0001583	missense	387914				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.368C>T	13.37:g.26621171G>A	ENSP00000313079:p.Ser123Phe		B9EH70|Q5W0G8	Missense_Mutation	SNP	NULL	p.S123F	ENST00000319420.3	37	c.368	CCDS31951.1	13	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236644	0.79800	.	.	ENSG00000180730	ENST00000319420	T	0.51325	0.71	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.71217	-0.4658	10	0.72032	D	0.01	-28.3933	17.7042	0.88304	0.0:0.0:1.0:0.0	.	123	Q6UWI4	SHSA2_HUMAN	F	123	ENSP00000313079:S123F	ENSP00000313079:S123F	S	-	2	0	SHISA2	25519171	1.000000	0.71417	0.908000	0.35775	0.746000	0.42486	9.869000	0.99810	2.173000	0.68751	0.557000	0.71058	TCC	SHISA2	-	NULL		0.547	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA2	HGNC	protein_coding	OTTHUMT00000044239.2	G	NM_001007538		26621171	-1	no_errors	ENST00000319420	ensembl	human	known	70_37	missense	SNP	1.000	A
SHPRH	257218	genome.wustl.edu	37	6	146264850	146264850	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:146264850G>A	ENST00000367505.2	-	9	1931	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	SHPRH_ENST00000275233.7_Missense_Mutation_p.S556F|SHPRH_ENST00000438092.2_Missense_Mutation_p.S556F|SHPRH_ENST00000367503.3_Missense_Mutation_p.S556F			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	556					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCATCATCAGAGGTGTCTGA	0.358																																																	0													126.0	116.0	119.0					6																	146264850		1832	4094	5926	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1667C>T	6.37:g.146264850G>A	ENSP00000356475:p.Ser556Phe		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.S556F	ENST00000367505.2	37	c.1667	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071844	0.55646	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74947	-0.89;-0.89;-0.88;-0.89	5.53	4.65	0.58169	DEAD-like helicase (1);	1.640880	0.03206	N	0.175544	T	0.59838	0.2223	L	0.40543	1.245	0.32213	N	0.576258	B;B;P;P	0.41784	0.012;0.427;0.547;0.762	B;B;B;B	0.44224	0.007;0.305;0.444;0.223	T	0.44143	-0.9347	10	0.59425	D	0.04	-6.3774	8.5441	0.33410	0.083:0.0:0.7638:0.1532	.	445;556;556;445	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	F	556;556;556;556;445	ENSP00000356475:S556F;ENSP00000356473:S556F;ENSP00000412797:S556F;ENSP00000275233:S556F	ENSP00000275233:S556F	S	-	2	0	SHPRH	146306543	0.982000	0.34865	1.000000	0.80357	0.888000	0.51559	2.424000	0.44714	1.458000	0.47871	0.650000	0.86243	TCT	SHPRH	-	smart_Helicase_ATP-bd		0.358	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	G	NM_173082		146264850	-1	no_errors	ENST00000367503	ensembl	human	known	70_37	missense	SNP	0.997	A
SHROOM2	357	genome.wustl.edu	37	X	9864180	9864180	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:9864180C>T	ENST00000380913.3	+	4	2322	c.2232C>T	c.(2230-2232)caC>caT	p.H744H		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	744	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCGGGCCCCACCCGCCCCGCA	0.637																																																	0													10.0	11.0	11.0					X																	9864180		2172	4229	6401	SO:0001819	synonymous_variant	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2232C>T	X.37:g.9864180C>T			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H744	ENST00000380913.3	37	c.2232	CCDS14135.1	X																																																																																			SHROOM2	-	pfam_ASD1		0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	C	NM_001649		9864180	+1	no_errors	ENST00000380913	ensembl	human	known	70_37	silent	SNP	0.002	T
SLC17A8	246213	genome.wustl.edu	37	12	100796201	100796201	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:100796201G>A	ENST00000323346.5	+	7	1160	c.847G>A	c.(847-849)Gag>Aag	p.E283K	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E283K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	283					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATCCAATGAGGAGAAGACCTA	0.408																																																	0													92.0	89.0	90.0					12																	100796201		2203	4300	6503	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.847G>A	12.37:g.100796201G>A	ENSP00000316909:p.Glu283Lys		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E283K	ENST00000323346.5	37	c.847	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502969	0.85176	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.62941	-0.01;-0.01	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.93898	3.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.981	D	0.88241	0.2910	10	0.87932	D	0	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	283;283	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	283	ENSP00000316909:E283K;ENSP00000376715:E283K	ENSP00000316909:E283K	E	+	1	0	SLC17A8	99320332	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	9.703000	0.98714	2.788000	0.95919	0.557000	0.71058	GAG	SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.408	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	G	NM_139319		100796201	+1	no_errors	ENST00000323346	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC22A12	116085	genome.wustl.edu	37	11	64366018	64366018	+	Silent	SNP	C	C	T	rs140154051		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64366018C>T	ENST00000377574.1	+	5	1608	c.861C>T	c.(859-861)ctC>ctT	p.L287L	SLC22A12_ENST00000377567.2_Silent_p.L179L|SLC22A12_ENST00000377572.1_Silent_p.L179L|SLC22A12_ENST00000336464.7_Silent_p.L253L|SLC22A12_ENST00000473690.1_Silent_p.L66L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	287					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GATGGCTCCTCACCACAGGCA	0.667																																																	0								C	,	0,4376		0,0,2188	22.0	17.0	18.0		861,198	2.1	0.2	11	dbSNP_134	18	1,8561		0,1,4280	no	coding-synonymous,coding-synonymous	SLC22A12	NM_144585.2,NM_153378.1	,	0,1,6468	TT,TC,CC		0.0117,0.0,0.0077	,	287/554,66/333	64366018	1,12937	2188	4281	6469	SO:0001819	synonymous_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.861C>T	11.37:g.64366018C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L287	ENST00000377574.1	37	c.861	CCDS8075.1	11																																																																																			SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	C	NM_144585		64366018	+1	no_errors	ENST00000377574	ensembl	human	known	70_37	silent	SNP	0.321	T
SLC22A12	116085	genome.wustl.edu	37	11	64366282	64366282	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64366282C>G	ENST00000377574.1	+	6	1704	c.957C>G	c.(955-957)gtC>gtG	p.V319V	SLC22A12_ENST00000377567.2_Silent_p.V211V|SLC22A12_ENST00000377572.1_Silent_p.V211V|SLC22A12_ENST00000336464.7_Silent_p.V285V|SLC22A12_ENST00000473690.1_Silent_p.V98V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	319			Missing (affects urate transport). {ECO:0000269|PubMed:15327384}.		cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTCCACAGGTCTTGCTTTCAG	0.667																																																	0													28.0	28.0	28.0					11																	64366282		2201	4296	6497	SO:0001819	synonymous_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.957C>G	11.37:g.64366282C>G			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V319	ENST00000377574.1	37	c.957	CCDS8075.1	11																																																																																			SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	C	NM_144585		64366282	+1	no_errors	ENST00000377574	ensembl	human	known	70_37	silent	SNP	0.003	G
SLC22A20	440044	genome.wustl.edu	37	11	64993027	64993027	+	RNA	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:64993027G>T	ENST00000525437.1	+	0	1081							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CGGCTCTGGGGAGCAAGGGGG	0.667											OREG0020652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												440044			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64993027G>T		1080	B9EJB2|Q6ZN88	RNA	SNP	-	NULL	ENST00000525437.1	37	NULL		11																																																																																			SLC22A20	-	-		0.667	SLC22A20-003	KNOWN	basic	processed_transcript	SLC22A20	HGNC	pseudogene	OTTHUMT00000385336.1	G	NM_001004326		64993027	+1	no_errors	ENST00000525264	ensembl	human	known	70_37	rna	SNP	0.001	T
SLC25A32	81034	genome.wustl.edu	37	8	104427124	104427124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:104427124C>T	ENST00000297578.4	-	1	208	c.42G>A	c.(40-42)tgG>tgA	p.W14*	DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|DCAF13_ENST00000297579.5_5'UTR|SLC25A32_ENST00000543107.1_5'UTR|DCAF13_ENST00000521971.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	14					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ATACCGTGCTCCACGCCGACG	0.692																																																	0													19.0	22.0	21.0					8																	104427124		2203	4299	6502	SO:0001587	stop_gained	81034			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.42G>A	8.37:g.104427124C>T	ENSP00000297578:p.Trp14*		Q96JZ6|Q96SU7	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.W14*	ENST00000297578.4	37	c.42	CCDS6300.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.737722	0.97801	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	.	.	.	5.02	4.13	0.48395	.	0.731283	0.13936	N	0.352580	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.5849	13.4852	0.61361	0.1578:0.8422:0.0:0.0	.	.	.	.	X	14	.	ENSP00000297578:W14X	W	-	3	0	SLC25A32	104496300	0.011000	0.17503	0.967000	0.41034	0.919000	0.55068	1.126000	0.31344	1.290000	0.44636	0.655000	0.94253	TGG	SLC25A32	-	NULL		0.692	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A32	HGNC	protein_coding	OTTHUMT00000380290.2	C	NM_030780		104427124	-1	no_errors	ENST00000297578	ensembl	human	known	70_37	nonsense	SNP	0.397	T
SLC25A41	284427	genome.wustl.edu	37	19	6433680	6433680	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:6433680G>C	ENST00000321510.6	-	1	93	c.25C>G	c.(25-27)Cag>Gag	p.Q9E	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CAAGTGTTCTGAGGTTCCCCA	0.572																																																	0													35.0	36.0	36.0					19																	6433680		1930	4143	6073	SO:0001583	missense	284427			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.25C>G	19.37:g.6433680G>C	ENSP00000322649:p.Gln9Glu			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q9E	ENST00000321510.6	37	c.25	CCDS45937.1	19	.	.	.	.	.	.	.	.	.	.	G	0.337	-0.952927	0.02285	.	.	ENSG00000181240	ENST00000321510;ENST00000458275	T;T	0.80566	-1.39;1.26	3.09	-5.11	0.02901	.	0.274240	0.23704	U	0.045400	T	0.56688	0.2002	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	10	0.87932	D	0	.	6.8216	0.23861	0.0:0.4576:0.2394:0.303	.	9	Q8N5S1	S2541_HUMAN	E	9	ENSP00000322649:Q9E;ENSP00000405411:Q9E	ENSP00000322649:Q9E	Q	-	1	0	SLC25A41	6384680	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.365000	0.07573	-0.813000	0.04357	-0.802000	0.03209	CAG	SLC25A41	-	NULL		0.572	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	G	NM_173637		6433680	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC27A2	11001	genome.wustl.edu	37	15	50528249	50528249	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:50528249G>A	ENST00000267842.5	+	10	2051	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	SLC27A2_ENST00000544960.1_Missense_Mutation_p.E372K|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E554K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	607					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GCCTATGACTGAGGACATCTA	0.433																																																	0													161.0	144.0	150.0					15																	50528249		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1819G>A	15.37:g.50528249G>A	ENSP00000267842:p.Glu607Lys		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E607K	ENST00000267842.5	37	c.1819	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487224	0.26686	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;D	0.82526	0.38;0.24;-1.62	5.87	4.95	0.65309	.	0.458661	0.24441	N	0.038518	T	0.75347	0.3837	L	0.45422	1.42	0.41243	D	0.986657	B;B	0.22909	0.0;0.077	B;B	0.20184	0.004;0.028	T	0.69420	-0.5150	10	0.08179	T	0.78	-6.3752	14.6925	0.69096	0.0:0.4219:0.5781:0.0	.	554;607	Q6PF09;O14975	.;S27A2_HUMAN	K	554;607;372	ENSP00000370289:E554K;ENSP00000267842:E607K;ENSP00000444549:E372K	ENSP00000267842:E607K	E	+	1	0	SLC27A2	48315541	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.509000	0.45459	1.594000	0.50039	0.655000	0.94253	GAG	SLC27A2	-	NULL		0.433	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	G	NM_003645		50528249	+1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC2A12	154091	genome.wustl.edu	37	6	134349710	134349710	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:134349710G>C	ENST00000275230.5	-	2	1408	c.1253C>G	c.(1252-1254)tCa>tGa	p.S418*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	418					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGGCATGAGTGAGCTTCTGCT	0.458																																					Melanoma(122;1663 1672 14489 35294 41228)												0													164.0	151.0	155.0					6																	134349710		2203	4300	6503	SO:0001587	stop_gained	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1253C>G	6.37:g.134349710G>C	ENSP00000275230:p.Ser418*		B3KV17|Q7Z6U3|Q96MR8	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.S418*	ENST00000275230.5	37	c.1253	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854813	0.91355	.	.	ENSG00000146411	ENST00000275230	.	.	.	5.03	3.21	0.36854	.	2.786790	0.00961	N	0.003104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0103	7.8634	0.29522	0.3227:0.0:0.6773:0.0	.	.	.	.	X	418	.	ENSP00000275230:S418X	S	-	2	0	SLC2A12	134391403	0.000000	0.05858	0.003000	0.11579	0.638000	0.38207	0.303000	0.19210	1.092000	0.41356	0.467000	0.42956	TCA	SLC2A12	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.458	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	G			134349710	-1	no_errors	ENST00000275230	ensembl	human	known	70_37	nonsense	SNP	0.001	C
SLC2A4RG	56731	genome.wustl.edu	37	20	62374737	62374737	+	3'UTR	SNP	T	T	G	rs528564148	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:62374737T>G	ENST00000266077.2	+	0	1610				RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA|SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CACTCGCACTTAACTCAACGG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	56731			AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.*394T>G	20.37:g.62374737T>G			Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	RNA	SNP	-	NULL	ENST00000266077.2	37	NULL	CCDS13537.1	20																																																																																			SLC2A4RG	-	-		0.557	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A4RG	HGNC	protein_coding	OTTHUMT00000080202.1	T	NM_020062		62374737	+1	no_errors	ENST00000473157	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC35B2	347734	genome.wustl.edu	37	6	44222490	44222490	+	Missense_Mutation	SNP	G	G	A	rs138499828		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:44222490G>A	ENST00000393812.3	-	4	1395	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.R285W|SLC35B2_ENST00000538577.1_Missense_Mutation_p.R325W|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	418					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTTTCCCCGTTGCTTTAGA	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		18213	0.0		0.001	False		,,,				2504	0.0																0								G	TRP/ARG	0,4406		0,0,2203	101.0	104.0	103.0		1252	1.5	0.5	6	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC35B2	NM_178148.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	418/433	44222490	2,13004	2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1252C>T	6.37:g.44222490G>A	ENSP00000377401:p.Arg418Trp		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.R418W	ENST00000393812.3	37	c.1252	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	g	11.17	1.560877	0.27827	0.0	2.33E-4	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.33654	1.42;1.41;1.4	4.58	1.55	0.23275	.	0.391107	0.24710	N	0.036232	T	0.26666	0.0652	L	0.36672	1.1	0.19575	N	0.999961	D;D	0.69078	0.996;0.997	P;P	0.56648	0.802;0.803	T	0.21999	-1.0229	10	0.72032	D	0.01	-32.1771	13.7384	0.62833	0.0:0.0:0.3331:0.6669	.	325;418	F5H7Y9;Q8TB61	.;S35B2_HUMAN	W	418;285;325;378	ENSP00000377401:R418W;ENSP00000440340:R285W;ENSP00000443845:R325W	ENSP00000342455:R378W	R	-	1	2	SLC35B2	44330468	0.001000	0.12720	0.519000	0.27824	0.105000	0.19272	0.253000	0.18296	0.100000	0.17581	0.546000	0.68486	CGG	SLC35B2	-	NULL		0.597	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	G			44222490	-1	no_errors	ENST00000393812	ensembl	human	known	70_37	missense	SNP	0.135	A
SLC41A3	54946	genome.wustl.edu	37	3	125727581	125727581	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:125727581C>T	ENST00000315891.6	-	10	1486	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	SLC41A3_ENST00000346785.5_Silent_p.L380L|SLC41A3_ENST00000383598.2_Silent_p.L390L|SLC41A3_ENST00000360370.4_Silent_p.L416L|SLC41A3_ENST00000508835.1_Silent_p.L299L	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TTACCTGGATCAGGCCTGCCA	0.552																																																	0													74.0	66.0	68.0					3																	125727581		2203	4300	6503	SO:0001819	synonymous_variant	54946				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1248G>A	3.37:g.125727581C>T			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Silent	SNP	pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase	p.L416	ENST00000315891.6	37	c.1248	CCDS33843.1	3																																																																																			SLC41A3	-	pfam_MgtE_Mg_transptr_membr		0.552	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	C	NM_017836		125727581	-1	no_errors	ENST00000315891	ensembl	human	known	70_37	silent	SNP	0.977	T
SLC44A5	204962	genome.wustl.edu	37	1	75683550	75683550	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:75683550C>T	ENST00000370855.5	-	18	1738		c.e18+1		SLC44A5_ENST00000535611.1_Splice_Site|SLC44A5_ENST00000370859.3_Splice_Site	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGAAATCTTACGTTTAAGACG	0.368																																																	0													51.0	53.0	52.0					1																	75683550		2202	4299	6501	SO:0001630	splice_region_variant	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1624+1G>A	1.37:g.75683550C>T			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	-	e17+1	ENST00000370855.5	37	c.1624+1	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494424	0.64186	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3261	0.98701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC44A5	75456138	1.000000	0.71417	0.967000	0.41034	0.374000	0.29953	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	.	SLC44A5	-	-		0.368	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	C	NM_152697	Intron	75683550	-1	no_errors	ENST00000370855	ensembl	human	known	70_37	splice_site	SNP	1.000	T
SLC5A11	115584	genome.wustl.edu	37	16	24873933	24873933	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:24873933G>C	ENST00000347898.3	+	3	769	c.147G>C	c.(145-147)aaG>aaC	p.K49N	SLC5A11_ENST00000424767.2_Missense_Mutation_p.K49N|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000568579.1_Missense_Mutation_p.K49N|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000539472.1_5'UTR|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000545376.1_Missense_Mutation_p.K49N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.K49N	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CCACAGTGAAGACCAAAAGAG	0.473																																																	0													117.0	108.0	111.0					16																	24873933		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.147G>C	16.37:g.24873933G>C	ENSP00000289932:p.Lys49Asn			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.K49N	ENST00000347898.3	37	c.147	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688324	0.48097	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376	D;D;D	0.89123	-2.42;-2.47;-2.33	5.05	5.05	0.67936	.	0.321276	0.34460	N	0.003953	D	0.90885	0.7136	M	0.71206	2.165	0.80722	D	1	P;D;P	0.55800	0.846;0.973;0.868	B;P;B	0.52646	0.358;0.705;0.358	D	0.91611	0.5303	10	0.72032	D	0.01	.	11.7591	0.51892	0.0:0.1778:0.8222:0.0	.	49;49;49	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	N	49	ENSP00000289932:K49N;ENSP00000416782:K49N;ENSP00000441384:K49N	ENSP00000289932:K49N	K	+	3	2	SLC5A11	24781434	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.139000	0.50577	2.332000	0.79248	0.561000	0.74099	AAG	SLC5A11	-	pfscan_Na/solute_symporter		0.473	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	G	NM_052944		24873933	+1	no_errors	ENST00000347898	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC6A10P	386757	genome.wustl.edu	37	16	32893360	32893360	+	RNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:32893360G>C	ENST00000330048.5	-	0	1454					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CCTCCCAGTTGAGGGCCCCTG	0.597																																																	0																																												386757			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32893360G>C				RNA	SNP	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			SLC6A10P	-	-		0.597	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	HGNC	pseudogene	OTTHUMT00000432081.2	G			32893360	-1	no_errors	ENST00000330048	ensembl	human	known	70_37	rna	SNP	0.992	C
SLC7A4	6545	genome.wustl.edu	37	22	21385937	21385937	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:21385937G>C	ENST00000382932.2	-	2	232	c.165C>G	c.(163-165)ctC>ctG	p.L55L	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.L55L|MIR649_ENST00000384843.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	55					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGCACGTAGAGACCCGAGC	0.667																																																	0													75.0	59.0	65.0					22																	21385937		2202	4300	6502	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.165C>G	22.37:g.21385937G>C			Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.L55	ENST00000382932.2	37	c.165	CCDS33608.1	22																																																																																			SLC7A4	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.667	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	HGNC	protein_coding	OTTHUMT00000320467.1	G	NM_004173		21385937	-1	no_errors	ENST00000382932	ensembl	human	known	70_37	silent	SNP	0.945	C
SLC9C2	284525	genome.wustl.edu	37	1	173517641	173517641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:173517641G>A	ENST00000367714.3	-	12	1770	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.Q348*	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	450					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TGTATGTGCTGAGTGGCATTT	0.363																																																	0													129.0	121.0	123.0					1																	173517641		2203	4300	6503	SO:0001587	stop_gained	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1348C>T	1.37:g.173517641G>A	ENSP00000356687:p.Gln450*		Q86UF3	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q450*	ENST00000367714.3	37	c.1348	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.114353	0.97296	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	4.53	-0.162	0.13367	.	1.092550	0.07056	N	0.832859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.9626	7.0212	0.24914	0.0:0.4347:0.3425:0.2228	.	.	.	.	X	450;348	.	ENSP00000356687:Q450X	Q	-	1	0	SLC9A11	171784264	0.772000	0.28567	0.863000	0.33907	0.349000	0.29174	0.086000	0.14935	-0.255000	0.09486	0.404000	0.27445	CAG	SLC9C2	-	NULL		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	G	NM_178527		173517641	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	nonsense	SNP	0.844	A
SLITRK6	84189	genome.wustl.edu	37	13	86370018	86370018	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:86370018C>T	ENST00000400286.2	-	2	1224	c.626G>A	c.(625-627)cGa>cAa	p.R209Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	209					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCCAATATTCGGCCAATGTG	0.398																																																	0													98.0	87.0	91.0					13																	86370018		1875	4104	5979	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.626G>A	13.37:g.86370018C>T	ENSP00000383143:p.Arg209Gln		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R209Q	ENST00000400286.2	37	c.626	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378505	0.61735	.	.	ENSG00000184564	ENST00000400286	T	0.52295	0.67	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.31752	0.955	0.48452	D	0.999653	D	0.89917	1.0	D	0.64506	0.926	T	0.47446	-0.9117	10	0.29301	T	0.29	-11.4423	18.9858	0.92769	0.0:1.0:0.0:0.0	.	209	Q9H5Y7	SLIK6_HUMAN	Q	209	ENSP00000383143:R209Q	ENSP00000383143:R209Q	R	-	2	0	SLITRK6	85268019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	CGA	SLITRK6	-	NULL		0.398	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	C	NM_032229		86370018	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	1.000	T
SLTM	79811	genome.wustl.edu	37	15	59182658	59182658	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:59182658C>T	ENST00000380516.2	-	15	1988	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	SLTM_ENST00000536328.1_Missense_Mutation_p.R203Q|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	634	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATCTCTCTTCGTCTACCAAA	0.403																																																	0													74.0	72.0	73.0					15																	59182658		2192	4291	6483	SO:0001583	missense	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1901G>A	15.37:g.59182658C>T	ENSP00000369887:p.Arg634Gln		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.R634Q	ENST00000380516.2	37	c.1901	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539927	0.65085	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.14022	2.54	5.86	5.86	0.93980	.	0.000000	0.45606	D	0.000349	T	0.21022	0.0506	L	0.27053	0.805	0.58432	D	0.99999	D;D	0.71674	0.998;0.997	P;P	0.55391	0.689;0.775	T	0.01301	-1.1391	10	0.23891	T	0.37	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	634;203	Q9NWH9;A8K5V8	SLTM_HUMAN;.	Q	634;200;203	ENSP00000369887:R634Q	ENSP00000369887:R634Q	R	-	2	0	SLTM	56969950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.384000	0.66225	2.777000	0.95525	0.655000	0.94253	CGA	SLTM	-	NULL		0.403	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	C	NM_024755		59182658	-1	no_errors	ENST00000380516	ensembl	human	known	70_37	missense	SNP	1.000	T
SLU7	10569	genome.wustl.edu	37	5	159842247	159842247	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:159842247C>T	ENST00000297151.4	-	2	442	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	19					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACTCATTTCTTTGGACCCC	0.448																																																	0													137.0	135.0	136.0					5																	159842247		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.55G>A	5.37:g.159842247C>T	ENSP00000297151:p.Glu19Lys		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.E19K	ENST00000297151.4	37	c.55	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496196	0.26861	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.45668	1.51;0.9;0.89	5.68	3.91	0.45181	.	0.416829	0.30510	N	0.009476	T	0.23249	0.0562	N	0.17474	0.49	0.30985	N	0.722041	B	0.15141	0.012	B	0.11329	0.006	T	0.18903	-1.0322	10	0.18276	T	0.48	.	7.7472	0.28875	0.0:0.7245:0.1338:0.1417	.	19	O95391	SLU7_HUMAN	K	19	ENSP00000297151:E19K;ENSP00000428943:E19K;ENSP00000429990:E19K	ENSP00000297151:E19K	E	-	1	0	SLU7	159774825	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.754000	0.68743	0.758000	0.33059	0.650000	0.86243	GAA	SLU7	-	NULL		0.448	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	C	NM_006425		159842247	-1	no_errors	ENST00000297151	ensembl	human	known	70_37	missense	SNP	0.995	T
SMAD7	4092	genome.wustl.edu	37	18	46448173	46448173	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:46448173G>T	ENST00000262158.2	-	4	1136	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	SMAD7_ENST00000589634.1_Missense_Mutation_p.L283M|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Missense_Mutation_p.L69M	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	284	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					AAGATATCCAGAGAGGGCTCC	0.547																																																	0													53.0	54.0	53.0					18																	46448173		2203	4300	6503	SO:0001583	missense	4092			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.850C>A	18.37:g.46448173G>T	ENSP00000262158:p.Leu284Met		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.L284M	ENST00000262158.2	37	c.850	CCDS11936.1	18	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202020	0.58234	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.97352	-4.35	5.84	4.96	0.65561	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.75020	0.979;0.985	D	0.97722	1.0197	10	0.72032	D	0.01	.	13.6773	0.62462	0.0728:0.0:0.9272:0.0	.	284;96	O15105;B3KYA8	SMAD7_HUMAN;.	M	69;284	ENSP00000262158:L284M	ENSP00000262158:L284M	L	-	1	2	SMAD7	44702171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.846000	0.55888	2.760000	0.94817	0.591000	0.81541	CTG	SMAD7	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.547	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMAD7	HGNC	protein_coding	OTTHUMT00000255906.1	G	NM_005904		46448173	-1	no_errors	ENST00000262158	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCAL1	50485	genome.wustl.edu	37	2	217347478	217347478	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:217347478G>A	ENST00000357276.4	+	18	2973	c.2643G>A	c.(2641-2643)aaG>aaA	p.K881K	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.K881K|AC098820.4_ENST00000414135.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	881					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCAGCAGAAGATCTACGACC	0.473									Schimke Immuno-Osseous Dysplasia																																								0													163.0	174.0	170.0					2																	217347478		2203	4300	6503	SO:0001819	synonymous_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2643G>A	2.37:g.217347478G>A			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K881	ENST00000357276.4	37	c.2643	CCDS2403.1	2																																																																																			SMARCAL1	-	NULL		0.473	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	G			217347478	+1	no_errors	ENST00000357276	ensembl	human	known	70_37	silent	SNP	0.773	A
SMARCD2	6603	genome.wustl.edu	37	17	61910333	61910333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:61910333C>A	ENST00000448276.2	-	13	1826	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*	FTSJ3_ENST00000580295.1_5'Flank|SMARCD2_ENST00000323347.10_Nonsense_Mutation_p.E473*|SMARCD2_ENST00000225742.9_Nonsense_Mutation_p.E446*	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	521					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGTTCCAGTTCCTGCCTTCGC	0.592																																																	0													39.0	47.0	45.0					17																	61910333		1970	4162	6132	SO:0001587	stop_gained	6603			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1561G>T	17.37:g.61910333C>A	ENSP00000392617:p.Glu521*		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Nonsense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.E521*	ENST00000448276.2	37	c.1561	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	21.8	4.201127	0.79015	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	.	.	.	5.87	5.87	0.94306	.	0.111589	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.6478	17.6998	0.88291	0.0:1.0:0.0:0.0	.	.	.	.	X	521;463;484;473	.	ENSP00000225742:E463X	E	-	1	0	SMARCD2	59264065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.070000	0.71220	2.785000	0.95823	0.655000	0.94253	GAA	SMARCD2	-	NULL		0.592	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	C	NM_001098426		61910333	-1	no_errors	ENST00000448276	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SNAP91	9892	genome.wustl.edu	37	6	84269883	84269883	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:84269883G>A	ENST00000439399.2	-	28	2887	c.2571C>T	c.(2569-2571)gtC>gtT	p.V857V	SNAP91_ENST00000520302.1_Silent_p.V827V|SNAP91_ENST00000521485.1_Silent_p.V852V|SNAP91_ENST00000521743.1_Silent_p.V857V|SNAP91_ENST00000369694.2_Silent_p.V857V|SNAP91_ENST00000428679.2_Silent_p.V857V|SNAP91_ENST00000520213.1_Silent_p.V550V|SNAP91_ENST00000437520.1_Silent_p.V550V|SNAP91_ENST00000195649.6_Silent_p.V852V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	857	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTGCAAACATGACCGGCTGCT	0.547																																																	0													70.0	72.0	71.0					6																	84269883		1979	4161	6140	SO:0001819	synonymous_variant	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2571C>T	6.37:g.84269883G>A			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.V857	ENST00000439399.2	37	c.2571	CCDS47455.1	6																																																																																			SNAP91	-	NULL		0.547	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	G			84269883	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	silent	SNP	0.996	A
SND1	27044	genome.wustl.edu	37	7	127334894	127334894	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:127334894C>G	ENST00000354725.3	+	3	435	c.241C>G	c.(241-243)Cca>Gca	p.P81A		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	81	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGGGCATTTCCAGCTCGAGA	0.448																																																	0													111.0	110.0	110.0					7																	127334894		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.241C>G	7.37:g.127334894C>G	ENSP00000346762:p.Pro81Ala		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.P81A	ENST00000354725.3	37	c.241	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715040	0.68844	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.27104	1.69	5.88	5.88	0.94601	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.102141	0.64402	N	0.000002	T	0.14743	0.0356	N	0.03324	-0.35	0.52099	D	0.999943	B	0.09022	0.002	B	0.15052	0.012	T	0.10800	-1.0614	10	0.40728	T	0.16	-12.0452	17.7275	0.88369	0.0:1.0:0.0:0.0	.	81	Q7KZF4	SND1_HUMAN	A	81;71	ENSP00000346762:P81A	ENSP00000346762:P81A	P	+	1	0	SND1	127122130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.666000	0.83877	2.791000	0.96007	0.563000	0.77884	CCA	SND1	-	pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.448	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127334894	+1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA1731	85459	genome.wustl.edu	37	11	93464721	93464721	+	IGR	SNP	C	C	T	rs199550773		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:93464721C>T	ENST00000325212.6	+	0	8055				SNORA25_ENST00000384384.1_RNA|MIR1304_ENST00000408243.1_RNA|SNORD5_ENST00000459342.1_RNA|SNORA18_ENST00000384416.1_RNA|SNORA1_ENST00000384107.1_RNA|SNORA32_ENST00000384072.1_RNA|SNORD6_ENST00000365444.1_RNA|SNORA8_ENST00000384574.1_RNA|TAF1D_ENST00000546088.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731							centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGAACATTTCGCCCATCATC	0.338																																																	0								C		0,1748		0,0,874	85.0	78.0	81.0			1.9	1.0	11		81	1,3977		0,1,1988	no	near-gene-3				0,1,2862	TT,TC,CC		0.0251,0.0,0.0175			93464721	1,5725	874	1989	2863	SO:0001628	intergenic_variant	692075			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449		11.37:g.93464721C>T			C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	RNA	SNP	-	NULL	ENST00000325212.6	37	NULL	CCDS44708.1	11																																																																																			SNORD6	-	-		0.338	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SNORD6	HGNC	protein_coding	OTTHUMT00000394640.1	C	NM_033395		93464721	-1	no_errors	ENST00000365444	ensembl	human	known	70_37	rna	SNP	1.000	T
SNRNP200	23020	genome.wustl.edu	37	2	96957551	96957551	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:96957551G>A	ENST00000323853.5	-	17	2325	c.2248C>T	c.(2248-2250)Ctg>Ttg	p.L750L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	750	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCAGAAACAGACCCAGAGTG	0.577																																																	0													64.0	60.0	62.0					2																	96957551		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2248C>T	2.37:g.96957551G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L750	ENST00000323853.5	37	c.2248	CCDS2020.1	2																																																																																			SNRNP200	-	pfscan_Helicase_C		0.577	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	G	NM_014014		96957551	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	silent	SNP	0.977	A
SNTB1	6641	genome.wustl.edu	37	8	121583573	121583573	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:121583573C>G	ENST00000395601.3	-	5	1551				SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Intron	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)						muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGGAATGTCTCAGAATCTGAA	0.448																																																	0																																										SO:0001627	intron_variant	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1136+3752G>C	8.37:g.121583573C>G			A8K9E0|O14912|Q4KMG8	RNA	SNP	-	NULL	ENST00000395601.3	37	NULL	CCDS6334.1	8																																																																																			SNTB1	-	-		0.448	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	C	NM_021021		121583573	-1	no_errors	ENST00000519177	ensembl	human	known	70_37	rna	SNP	0.015	G
SNUPN	10073	genome.wustl.edu	37	15	75897509	75897509	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:75897509C>G	ENST00000564644.1	-	8	1238	c.660G>C	c.(658-660)gaG>gaC	p.E220D	SNUPN_ENST00000564675.1_Missense_Mutation_p.E220D|SNUPN_ENST00000308588.5_Missense_Mutation_p.E220D|SNUPN_ENST00000567134.1_Missense_Mutation_p.E220D|SNUPN_ENST00000371091.5_Missense_Mutation_p.E262D			O95149	SPN1_HUMAN	snurportin 1	220	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GCTTGGTTTTCTCTCCCAGTC	0.403																																																	0													161.0	150.0	154.0					15																	75897509		2197	4294	6491	SO:0001583	missense	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.660G>C	15.37:g.75897509C>G	ENSP00000454852:p.Glu220Asp		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.E262D	ENST00000564644.1	37	c.786	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	-	13.38	2.221396	0.39300	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.13	3.97	0.46021	.	0.051347	0.85682	D	0.000000	T	0.43853	0.1266	L	0.42008	1.315	0.50813	D	0.99989	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32666	-0.9898	9	0.25751	T	0.34	-34.1295	7.1695	0.25710	0.0:0.7086:0.1674:0.124	.	262;220	C9K0X5;O95149	.;SPN1_HUMAN	D	220;262	.	ENSP00000309831:E220D	E	-	3	2	SNUPN	73684564	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.732000	0.26072	2.567000	0.86603	0.531000	0.56144	GAG	SNUPN	-	pirsf_Snurportin-1		0.403	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	C	NM_005701		75897509	-1	no_errors	ENST00000371091	ensembl	human	known	70_37	missense	SNP	1.000	G
SNUPN	10073	genome.wustl.edu	37	15	75897569	75897569	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:75897569C>G	ENST00000564644.1	-	8	1179		c.e8-1		SNUPN_ENST00000564675.1_Splice_Site|SNUPN_ENST00000308588.5_Splice_Site|SNUPN_ENST00000567134.1_Splice_Site|SNUPN_ENST00000371091.5_Splice_Site			O95149	SPN1_HUMAN	snurportin 1						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGAAATCAGTCTGCCACAGAG	0.363																																																	0													107.0	101.0	103.0					15																	75897569		2197	4294	6491	SO:0001630	splice_region_variant	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.601-1G>C	15.37:g.75897569C>G			A6NE34|A8K0B0|D3DW76	Splice_Site	SNP	-	e7-1	ENST00000564644.1	37	c.727-1	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	-	14.71	2.618104	0.46736	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5802	0.45250	0.0:0.8042:0.1958:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNUPN	73684624	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.939000	0.75911	2.425000	0.82216	0.531000	0.56144	.	SNUPN	-	-		0.363	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	C	NM_005701	Intron	75897569	-1	no_errors	ENST00000371091	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SOX30	11063	genome.wustl.edu	37	5	157078629	157078629	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:157078629C>G	ENST00000265007.6	-	1	799	c.458G>C	c.(457-459)cGa>cCa	p.R153P	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.R153P	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	153					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACGGCCCCTCGAGGCCCCAC	0.677																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													16.0	19.0	18.0					5																	157078629		2183	4259	6442	SO:0001583	missense	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.458G>C	5.37:g.157078629C>G	ENSP00000265007:p.Arg153Pro		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R153P	ENST00000265007.6	37	c.458	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	7.684	0.689553	0.14973	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.99089	-5.41;-4.86	4.62	2.79	0.32731	.	0.194074	0.24700	N	0.036311	D	0.95586	0.8565	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.12630	0.006;0.003	B;B	0.16289	0.015;0.001	D	0.90551	0.4509	10	0.72032	D	0.01	.	2.7539	0.05288	0.1482:0.5429:0.1437:0.1652	.	153;153	O94993-2;O94993	.;SOX30_HUMAN	P	153	ENSP00000309343:R153P;ENSP00000265007:R153P	ENSP00000265007:R153P	R	-	2	0	SOX30	157011207	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.574000	0.23714	0.347000	0.23924	-0.680000	0.03767	CGA	SOX30	-	NULL		0.677	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	C	NM_007017		157078629	-1	no_errors	ENST00000265007	ensembl	human	known	70_37	missense	SNP	0.001	G
SOX30	11063	genome.wustl.edu	37	5	157078993	157078993	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:157078993C>T	ENST00000265007.6	-	1	435	c.94G>A	c.(94-96)Gca>Aca	p.A32T	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.A32T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	32	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCATGGCTGCTGCCCAAAAG	0.731																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													3.0	4.0	4.0					5																	157078993		1898	3951	5849	SO:0001583	missense	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.94G>A	5.37:g.157078993C>T	ENSP00000265007:p.Ala32Thr		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A32T	ENST00000265007.6	37	c.94	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141579	0.37825	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98362	-4.89;-4.46	4.05	2.18	0.27775	.	0.000000	0.33515	U	0.004823	D	0.94430	0.8208	L	0.29908	0.895	0.21652	N	0.999601	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.004	D	0.88993	0.3416	10	0.72032	D	0.01	.	6.5706	0.22537	0.1773:0.7291:0.0:0.0936	.	32;32	O94993-2;O94993	.;SOX30_HUMAN	T	32	ENSP00000309343:A32T;ENSP00000265007:A32T	ENSP00000265007:A32T	A	-	1	0	SOX30	157011571	0.167000	0.22975	0.026000	0.17262	0.166000	0.22503	3.992000	0.56980	0.318000	0.23185	0.305000	0.20034	GCA	SOX30	-	NULL		0.731	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	C	NM_007017		157078993	-1	no_errors	ENST00000265007	ensembl	human	known	70_37	missense	SNP	0.090	T
SP1	6667	genome.wustl.edu	37	12	53803323	53803323	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:53803323G>C	ENST00000327443.4	+	5	2120	c.2022G>C	c.(2020-2022)caG>caC	p.Q674H	SP1_ENST00000426431.2_Missense_Mutation_p.Q667H	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	674	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATGAGCTACAGAGGCACAAAC	0.453																																																	0													89.0	85.0	86.0					12																	53803323		2203	4300	6503	SO:0001583	missense	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2022G>C	12.37:g.53803323G>C	ENSP00000329357:p.Gln674His		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q674H	ENST00000327443.4	37	c.2022	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204022	0.79127	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.35973	1.28;1.28	5.1	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000066	T	0.46386	0.1390	L	0.33293	1	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.43940	-0.9360	10	0.87932	D	0	.	11.0668	0.47980	0.1534:0.0:0.8466:0.0	.	674	P08047	SP1_HUMAN	H	674;667	ENSP00000329357:Q674H;ENSP00000404263:Q667H	ENSP00000329357:Q674H	Q	+	3	2	SP1	52089590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.962000	0.56766	0.861000	0.35504	0.650000	0.86243	CAG	SP1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	G			53803323	+1	no_errors	ENST00000327443	ensembl	human	known	70_37	missense	SNP	1.000	C
SPAG11B	10407	genome.wustl.edu	37	8	7320333	7320333	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:7320333C>G	ENST00000297498.2	-	2	276	c.110G>C	c.(109-111)gGa>gCa	p.G37A	SPAG11B_ENST00000359758.5_Missense_Mutation_p.G37A|SPAG11B_ENST00000317900.5_Missense_Mutation_p.G37A|SPAG11B_ENST00000361111.2_Missense_Mutation_p.G37A|SPAG11B_ENST00000398462.2_Missense_Mutation_p.G37A	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	37					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCTGAGTTCTCCGAGAGCCTC	0.592																																																	0													17.0	21.0	20.0					8																	7320333		2066	4102	6168	SO:0001583	missense	10407			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.110G>C	8.37:g.7320333C>G	ENSP00000297498:p.Gly37Ala		E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.G37A	ENST00000297498.2	37	c.110	CCDS5966.1	8	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.812171	0.00600	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.44482	1.51;0.92;1.51	2.59	0.578	0.17391	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B;B;P;B;P	0.42203	0.007;0.008;0.649;0.341;0.773	B;B;B;B;P	0.45232	0.007;0.012;0.355;0.118;0.474	T	0.11792	-1.0573	9	0.02654	T	1	.	8.2084	0.31469	0.0:0.5068:0.4932:0.0	.	37;37;37;37;37	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	A	20;37;37;37;37;37	ENSP00000437154:G20A;ENSP00000354411:G37A;ENSP00000297498:G37A	ENSP00000297498:G37A	G	-	2	0	SPAG11B	7307743	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.427000	0.21379	0.130000	0.18549	0.461000	0.40582	GGA	SPAG11B	-	pfam_Sperm_Ag_HE2		0.592	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	C	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7320333	-1	no_errors	ENST00000398462	ensembl	human	known	70_37	missense	SNP	0.001	G
SPATA17	128153	genome.wustl.edu	37	1	217824495	217824495	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:217824495G>A	ENST00000366933.4	+	3	270	c.215G>A	c.(214-216)aGa>aAa	p.R72K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	72	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTAGGCAGAAAGCAATAT	0.289																																																	0													83.0	93.0	89.0					1																	217824495		2203	4290	6493	SO:0001583	missense	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.215G>A	1.37:g.217824495G>A	ENSP00000355900:p.Arg72Lys		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R72K	ENST00000366933.4	37	c.215	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973325	0.74246	.	.	ENSG00000162814	ENST00000366933	T	0.63913	-0.07	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	M	0.75447	2.3	0.39035	D	0.960018	D	0.89917	1.0	D	0.91635	0.999	T	0.81457	-0.0924	10	0.56958	D	0.05	-14.4651	15.1735	0.72894	0.0:0.0:1.0:0.0	.	72	Q96L03	SPT17_HUMAN	K	72	ENSP00000355900:R72K	ENSP00000355900:R72K	R	+	2	0	SPATA17	215891118	1.000000	0.71417	0.997000	0.53966	0.614000	0.37383	3.702000	0.54800	2.427000	0.82271	0.650000	0.86243	AGA	SPATA17	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	G	NM_138796		217824495	+1	no_errors	ENST00000366933	ensembl	human	known	70_37	missense	SNP	1.000	A
SPATA6L	55064	genome.wustl.edu	37	9	4656056	4656056	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:4656056C>T	ENST00000454239.2	-	4	456	c.211G>A	c.(211-213)Gta>Ata	p.V71I	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Missense_Mutation_p.V71I|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381895.5_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	71																	AAAAGGTCTACTACAGCTCCA	0.328																																																	0													49.0	45.0	46.0					9																	4656056		1810	4074	5884	SO:0001583	missense	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.211G>A	9.37:g.4656056C>T	ENSP00000404277:p.Val71Ile		B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	NULL	p.V71I	ENST00000454239.2	37	c.211		9	.	.	.	.	.	.	.	.	.	.	c	13.80	2.345897	0.41599	.	.	ENSG00000106686	ENST00000454239;ENST00000381890	T;T	0.50001	1.79;0.76	5.27	3.25	0.37280	.	0.488453	0.19204	N	0.120114	T	0.36496	0.0969	.	.	.	0.80722	D	1	B;B	0.26547	0.152;0.102	B;B	0.27380	0.05;0.079	T	0.18335	-1.0340	9	0.36615	T	0.2	-13.0418	10.1595	0.42842	0.3624:0.6376:0.0:0.0	.	71;71	Q8N4H0;Q8N4H0-2	CI068_HUMAN;.	I	71	ENSP00000404277:V71I;ENSP00000371314:V71I	ENSP00000371314:V71I	V	-	1	0	C9orf68	4646056	0.218000	0.23608	0.998000	0.56505	0.786000	0.44442	0.745000	0.26259	1.308000	0.44962	0.645000	0.84053	GTA	SPATA6L	-	NULL		0.328	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		C	NM_017985		4656056	-1	no_errors	ENST00000454239	ensembl	human	known	70_37	missense	SNP	0.998	T
SPRY4	81848	genome.wustl.edu	37	5	141694457	141694457	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:141694457C>T	ENST00000434127.2	-	2	460	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SPRY4_ENST00000344120.4_Missense_Mutation_p.E96K|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	73					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCAGCTCTGGGGCCCCG	0.652									Testicular Cancer, Familial Clustering of																																								0													22.0	28.0	26.0					5																	141694457		2201	4295	6496	SO:0001583	missense	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.217G>A	5.37:g.141694457C>T	ENSP00000399468:p.Glu73Lys		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	pfam_Sprouty	p.E96K	ENST00000434127.2	37	c.286	CCDS47296.1	5	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392702	0.42410	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661	T;T	0.63744	-0.06;-0.04	5.77	4.9	0.64082	.	0.260862	0.23933	N	0.043135	T	0.44829	0.1312	N	0.22421	0.69	0.41921	D	0.99051	B;B	0.29988	0.264;0.075	B;B	0.27715	0.082;0.026	T	0.36383	-0.9750	10	0.07644	T	0.81	-24.082	14.5431	0.68011	0.0:0.9299:0.0:0.0701	.	73;73	Q9C004-2;Q9C004	.;SPY4_HUMAN	K	96;73;73	ENSP00000344967:E96K;ENSP00000399468:E73K	ENSP00000344967:E96K	E	-	1	0	SPRY4	141674641	0.998000	0.40836	0.429000	0.26710	0.762000	0.43233	3.526000	0.53509	1.445000	0.47624	0.561000	0.74099	GAG	SPRY4	-	NULL		0.652	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY4	HGNC	protein_coding	OTTHUMT00000370652.1	C			141694457	-1	no_errors	ENST00000344120	ensembl	human	known	70_37	missense	SNP	0.999	T
SPTAN1	6709	genome.wustl.edu	37	9	131356479	131356479	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:131356479G>A	ENST00000372731.4	+	24	3351	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1081K|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1081K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1081					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAACTGGGTGAGAAGCGTAA	0.448																																					NSCLC(120;833 1744 2558 35612 37579)												0													130.0	119.0	123.0					9																	131356479		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3241G>A	9.37:g.131356479G>A	ENSP00000361816:p.Glu1081Lys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E1081K	ENST00000372731.4	37	c.3241	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	g	34	5.378921	0.95945	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.35421	1.31;1.31;1.31	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.39147	1.195	0.80722	D	1	P;P;B;D;P	0.56035	0.956;0.956;0.132;0.974;0.956	P;P;B;D;D	0.70487	0.899;0.899;0.039;0.969;0.931	T	0.31668	-0.9935	10	0.33141	T	0.24	.	19.2718	0.94013	0.0:0.0:1.0:0.0	.	1081;1061;1061;1081;1081	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	1081;1081;1081;1061	ENSP00000350882:E1081K;ENSP00000361816:E1081K;ENSP00000361824:E1081K	ENSP00000350882:E1081K	E	+	1	0	SPTAN1	130396300	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	9.213000	0.95133	2.789000	0.95967	0.651000	0.88453	GAG	SPTAN1	-	smart_Spectrin/alpha-actinin		0.448	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131356479	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTLC3	55304	genome.wustl.edu	37	20	13029847	13029847	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:13029847G>A	ENST00000399002.2	+	2	577				SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3						small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CAGAAGTGGTGATGCAGGTGC	0.468																																																	0													147.0	124.0	131.0					20																	13029847		692	1591	2283	SO:0001627	intron_variant	55304			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.303+69G>A	20.37:g.13029847G>A			A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	RNA	SNP	-	NULL	ENST00000399002.2	37	NULL	CCDS13115.2	20																																																																																			SPTLC3	-	-		0.468	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	G	NM_018327		13029847	+1	no_errors	ENST00000476791	ensembl	human	known	70_37	rna	SNP	0.001	A
SPTLC3	55304	genome.wustl.edu	37	20	13090773	13090773	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:13090773G>C	ENST00000399002.2	+	7	1115	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E281Q	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	281					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ACAAAGCCTAGAGAAGCTCCT	0.398																																																	0													54.0	53.0	53.0					20																	13090773		1835	4095	5930	SO:0001583	missense	55304			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.841G>C	20.37:g.13090773G>C	ENSP00000381968:p.Glu281Gln		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E281Q	ENST00000399002.2	37	c.841	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	G	31	5.077385	0.94000	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.96716	-4.1;-4.1	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99198	1.0872	10	0.87932	D	0	-25.4722	20.1162	0.97934	0.0:0.0:1.0:0.0	.	281	Q9NUV7	SPTC3_HUMAN	Q	281	ENSP00000381968:E281Q;ENSP00000367436:E281Q	ENSP00000367436:E281Q	E	+	1	0	SPTLC3	13038773	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.419000	0.97397	2.757000	0.94681	0.563000	0.77884	GAG	SPTLC3	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.398	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	G	NM_018327		13090773	+1	no_errors	ENST00000399002	ensembl	human	known	70_37	missense	SNP	1.000	C
SRCAP	10847	genome.wustl.edu	37	16	30732237	30732237	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:30732237C>T	ENST00000262518.4	+	20	3576	c.3191C>T	c.(3190-3192)tCt>tTt	p.S1064F	SRCAP_ENST00000344771.4_Missense_Mutation_p.S1064F|SRCAP_ENST00000395059.2_Missense_Mutation_p.S1064F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1064	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATTCCTGCATCTCGGCCTCCT	0.632																																																	0													56.0	54.0	55.0					16																	30732237		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3191C>T	16.37:g.30732237C>T	ENSP00000262518:p.Ser1064Phe		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S1064F	ENST00000262518.4	37	c.3191	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638531	0.47153	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91464	-2.85;-2.78;-2.83	5.25	5.25	0.73442	.	0.000000	0.51477	D	0.000093	D	0.90490	0.7021	N	0.14661	0.345	0.33640	D	0.607179	D;D;D	0.69078	0.997;0.997;0.995	D;D;P	0.65010	0.931;0.931;0.854	D	0.93216	0.6604	10	0.62326	D	0.03	-15.3108	17.7693	0.88487	0.0:1.0:0.0:0.0	.	1064;1064;1064	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	F	1064	ENSP00000262518:S1064F;ENSP00000378499:S1064F;ENSP00000343042:S1064F	ENSP00000262518:S1064F	S	+	2	0	SRCAP	30639738	0.334000	0.24739	0.991000	0.47740	0.577000	0.36160	4.700000	0.61803	2.729000	0.93468	0.557000	0.71058	TCT	SRCAP	-	NULL		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30732237	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.999	T
SRCAP	10847	genome.wustl.edu	37	16	30732630	30732630	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:30732630C>G	ENST00000262518.4	+	21	3759	c.3374C>G	c.(3373-3375)tCt>tGt	p.S1125C	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.S1125C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1125	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S1125C(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGGCTCCTCTAGCCTGTTG	0.632																																																	1	Substitution - Missense(1)	breast(1)											99.0	102.0	101.0					16																	30732630		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3374C>G	16.37:g.30732630C>G	ENSP00000262518:p.Ser1125Cys		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S1125C	ENST00000262518.4	37	c.3374	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377818	0.42105	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91740	-2.9;-2.83	5.36	5.36	0.76844	.	.	.	.	.	D	0.91968	0.7456	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.962	D	0.93185	0.6578	9	0.72032	D	0.01	-2.834	16.1243	0.81382	0.0:1.0:0.0:0.0	.	1125;1125	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	1125	ENSP00000262518:S1125C;ENSP00000378499:S1125C	ENSP00000262518:S1125C	S	+	2	0	SRCAP	30640131	0.537000	0.26386	0.983000	0.44433	0.974000	0.67602	2.621000	0.46418	2.788000	0.95919	0.557000	0.71058	TCT	SRCAP	-	NULL		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30732630	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.999	G
SRRT	51593	genome.wustl.edu	37	7	100473329	100473329	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:100473329G>A	ENST00000347433.4	+	2	276	c.118G>A	c.(118-120)Gac>Aac	p.D40N	SRRT_ENST00000432932.1_Missense_Mutation_p.D40N|SRRT_ENST00000457580.2_Missense_Mutation_p.D40N|SRRT_ENST00000388793.4_Missense_Mutation_p.D40N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	40	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGATTGGAATGACAGGTGAGC	0.532																																																	0													129.0	116.0	121.0					7																	100473329		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.118G>A	7.37:g.100473329G>A	ENSP00000314491:p.Asp40Asn		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.D40N	ENST00000347433.4	37	c.118	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605786	0.66445	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	4.03	4.03	0.46877	.	0.134893	0.47093	D	0.000249	T	0.54581	0.1867	L	0.53249	1.67	0.48040	D	0.99957	P;P;P;P	0.40731	0.728;0.728;0.728;0.608	B;B;B;B	0.42916	0.402;0.402;0.402;0.227	T	0.52852	-0.8520	9	0.24483	T	0.36	.	13.7039	0.62627	0.0:0.0:1.0:0.0	.	40;40;40;40	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	40;40;40;40;47	.	ENSP00000314491:D40N	D	+	1	0	SRRT	100311265	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.775000	0.75018	2.073000	0.62155	0.561000	0.74099	GAC	SRRT	-	NULL		0.532	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100473329	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	A
SRPK2	6733	genome.wustl.edu	37	7	104766234	104766234	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:104766234C>T	ENST00000393651.3	-	15	2003				SRPK2_ENST00000489828.1_Intron|SRPK2_ENST00000357311.3_Intron	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTTACCTTTTCTGGTGAAAAA	0.418																																																	0																																										SO:0001627	intron_variant	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1915+460G>A	7.37:g.104766234C>T				Missense_Mutation	SNP	superfamily_Kinase-like_dom	p.R85K	ENST00000393651.3	37	c.254	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144323	0.37825	.	.	ENSG00000135250	ENST00000474770	.	.	.	5.52	4.53	0.55603	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53697	-0.8402	4	.	.	.	.	6.4	0.21632	0.0:0.7412:0.0:0.2588	.	.	.	.	K	142	.	.	E	-	1	0	SRPK2	104553470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.083000	0.64456	2.603000	0.88011	0.650000	0.86243	GAA	SRPK2	-	superfamily_Kinase-like_dom		0.418	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		104766234	-1	no_errors	ENST00000465072	ensembl	human	known	70_37	missense	SNP	1.000	T
SRSF12	135295	genome.wustl.edu	37	6	89808634	89808634	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:89808634G>C	ENST00000452027.2	-	5	642	c.449C>G	c.(448-450)tCt>tGt	p.S150C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	150	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACGAGATTTAGACTGGCTATA	0.418																																																	0													159.0	152.0	154.0					6																	89808634		1861	4094	5955	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.449C>G	6.37:g.89808634G>C	ENSP00000414302:p.Ser150Cys		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S150C	ENST00000452027.2	37	c.449	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526537	0.64860	.	.	ENSG00000154548	ENST00000452027	T	0.10668	2.85	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000005	T	0.18593	0.0446	L	0.44542	1.39	0.42452	D	0.992755	D	0.76494	0.999	D	0.74674	0.984	T	0.00589	-1.1656	10	0.62326	D	0.03	.	17.3944	0.87441	0.0:0.0:1.0:0.0	.	150	Q8WXF0	SRS12_HUMAN	C	150	ENSP00000414302:S150C	ENSP00000414302:S150C	S	-	2	0	SRSF12	89865353	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.836000	0.55813	2.719000	0.93026	0.585000	0.79938	TCT	SRSF12	-	NULL		0.418	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	G	NM_080743		89808634	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	C
SSX2IP	117178	genome.wustl.edu	37	1	85122058	85122058	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:85122058C>T	ENST00000342203.3	-	10	1451	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	SSX2IP_ENST00000605755.1_Missense_Mutation_p.M369I|SSX2IP_ENST00000437941.2_Missense_Mutation_p.M369I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.M396I|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	396					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAGTTTTAATCATTTCTTTAC	0.353																																																	0													137.0	130.0	133.0					1																	85122058		2202	4298	6500	SO:0001583	missense	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1188G>A	1.37:g.85122058C>T	ENSP00000340279:p.Met396Ile		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.M396I	ENST00000342203.3	37	c.1188	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119442	0.37436	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.39592	1.07;1.07	5.62	5.62	0.85841	.	0.135838	0.64402	D	0.000001	T	0.20455	0.0492	L	0.51422	1.61	0.38515	D	0.948573	B;B;B	0.19331	0.035;0.023;0.023	B;B;B	0.18871	0.023;0.018;0.018	T	0.05971	-1.0853	10	0.09084	T	0.74	-28.6811	15.1664	0.72828	0.0:0.8594:0.1406:0.0	.	392;396;369	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	396;369;392;396	ENSP00000340279:M396I;ENSP00000412781:M369I	ENSP00000340279:M396I	M	-	3	0	SSX2IP	84894646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.701000	0.54793	2.650000	0.89964	0.591000	0.81541	ATG	SSX2IP	-	NULL		0.353	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	C	NM_014021		85122058	-1	no_errors	ENST00000342203	ensembl	human	known	70_37	missense	SNP	1.000	T
SSX4B	548313	genome.wustl.edu	37	X	48270279	48270279	+	Missense_Mutation	SNP	G	G	C	rs371037826		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:48270279G>C	ENST00000376884.2	-	3	155	c.98C>G	c.(97-99)tCt>tGt	p.S33C	SSX4B_ENST00000396928.1_Missense_Mutation_p.S33C	NM_001034832.3	NP_001030004.1	O60224	SSX4_HUMAN	synovial sarcoma, X breakpoint 4B	33	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			lung(1)	1						CTCTTTCTTAGAGAAGTATTT	0.403																																																	0													34.0	42.0	40.0					X																	48270279		2179	4261	6440	SO:0001583	missense	548313				CCDS35241.1, CCDS43935.1	Xp11.23	2008-02-05			ENSG00000198946	ENSG00000269791			16880	protein-coding gene	gene with protein product							Standard	NM_001034832		Approved	OTTHUMT00000056510	uc004djf.2	O60224	OTTHUMG00000021497	ENST00000376884.2:c.98C>G	X.37:g.48270279G>C	ENSP00000366081:p.Ser33Cys		A8MYD4|B2RPE3|Q3SYD4|Q5JQZ0|Q9UJU9	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S33C	ENST00000376884.2	37	c.98	CCDS35241.1	X	.	.	.	.	.	.	.	.	.	.	N	9.819	1.185165	0.21870	.	.	ENSG00000198946	ENST00000376884;ENST00000396928	T;T	0.01234	5.13;5.13	1.64	0.707	0.18139	.	0.449458	0.19254	N	0.118855	T	0.06416	0.0165	M	0.93328	3.405	0.09310	N	1	.	.	.	.	.	.	T	0.05386	-1.0888	8	0.62326	D	0.03	.	5.4265	0.16429	0.0:0.3536:0.6464:0.0	.	.	.	.	C	33	ENSP00000366081:S33C;ENSP00000380134:S33C	ENSP00000366081:S33C	S	-	2	0	SSX4B	48155223	0.949000	0.32298	0.089000	0.20774	0.056000	0.15407	2.222000	0.42926	0.176000	0.19873	0.110000	0.15639	TCT	SSX4B	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.403	SSX4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX4B	HGNC	protein_coding	OTTHUMT00000056510.2	G			48270279	-1	no_errors	ENST00000376884	ensembl	human	known	70_37	missense	SNP	0.093	C
ST3GAL2	6483	genome.wustl.edu	37	16	70415655	70415655	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:70415655G>A	ENST00000393640.4	-	6	3097	c.990C>T	c.(988-990)ttC>ttT	p.F330F	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.F330F			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	330					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TGTGGGCCTCGAAGTCCGCGT	0.662																																																	0													72.0	62.0	65.0					16																	70415655		2198	4300	6498	SO:0001819	synonymous_variant	6483			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.990C>T	16.37:g.70415655G>A			O00654	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.F330	ENST00000393640.4	37	c.990	CCDS10890.1	16																																																																																			ST3GAL2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.662	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL2	HGNC	protein_coding	OTTHUMT00000268968.1	G	NM_006927		70415655	-1	no_errors	ENST00000342907	ensembl	human	known	70_37	silent	SNP	1.000	A
ST7	7982	genome.wustl.edu	37	7	116730797	116730797	+	Intron	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:116730797G>T	ENST00000393446.2	+	2	454				ST7_ENST00000393444.3_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000465133.1_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000487459.1_Intron|ST7_ENST00000265437.5_Intron|ST7_ENST00000422922.1_Intron|ST7-AS2_ENST00000456577.1_RNA|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393449.1_Intron			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTCTGTTCTTGACCAGGGTGG	0.328																																																	0																																										SO:0001627	intron_variant	93654			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.152-9019G>T	7.37:g.116730797G>T			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000393446.2	37	NULL		7																																																																																			ST7-AS2	-	-		0.328	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7-AS2	HGNC	protein_coding	OTTHUMT00000319687.1	G	NM_021908		116730797	-1	no_errors	ENST00000456577	ensembl	human	known	70_37	rna	SNP	0.000	T
ST8SIA1	6489	genome.wustl.edu	37	12	22354821	22354821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:22354821G>A	ENST00000396037.4	-	5	1217	c.736C>T	c.(736-738)Caa>Taa	p.Q246*	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.Q103*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	246					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AGCACTGTTTGATTGGCACCA	0.438																																																	0													83.0	80.0	81.0					12																	22354821		2203	4300	6503	SO:0001587	stop_gained	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.736C>T	12.37:g.22354821G>A	ENSP00000379353:p.Gln246*		A8K4H6|Q17RL0|Q6PZN5|Q93064	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q246*	ENST00000396037.4	37	c.736	CCDS8697.1	12	.	.	.	.	.	.	.	.	.	.	G	40	7.912481	0.98557	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	.	.	.	5.73	5.73	0.89815	.	0.055917	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.8265	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	X	246;103	.	ENSP00000379353:Q246X	Q	-	1	0	ST8SIA1	22246088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.782000	0.99034	2.861000	0.98227	0.655000	0.94253	CAA	ST8SIA1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.438	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA1	HGNC	protein_coding	OTTHUMT00000402245.2	G	NM_003034		22354821	-1	no_errors	ENST00000396037	ensembl	human	known	70_37	nonsense	SNP	1.000	A
STAG1	10274	genome.wustl.edu	37	3	136141690	136141690	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:136141690C>T	ENST00000383202.2	-	18	2009	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	STAG1_ENST00000434713.2_Missense_Mutation_p.D359N|STAG1_ENST00000236698.5_Missense_Mutation_p.D585N|STAG1_ENST00000536929.1_Missense_Mutation_p.D169N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	585					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCTCTGCATCTGCAGAATAC	0.333																																																	0													70.0	68.0	68.0					3																	136141690		2202	4298	6500	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1753G>A	3.37:g.136141690C>T	ENSP00000372689:p.Asp585Asn		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.D585N	ENST00000383202.2	37	c.1753	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.265397	0.95399	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.86	5.86	0.93980	Armadillo-type fold (1);	0.093907	0.64402	D	0.000001	T	0.40372	0.1114	M	0.72479	2.2	0.80722	D	1	P;D;P	0.62365	0.939;0.991;0.939	P;P;P	0.58721	0.601;0.844;0.601	T	0.05699	-1.0869	10	0.54805	T	0.06	.	20.2359	0.98356	0.0:1.0:0.0:0.0	.	602;585;585	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	N	585;585;359;169	ENSP00000372689:D585N;ENSP00000236698:D585N;ENSP00000404396:D359N;ENSP00000445787:D169N	ENSP00000236698:D585N	D	-	1	0	STAG1	137624380	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.551000	0.82182	2.787000	0.95880	0.650000	0.86243	GAT	STAG1	-	superfamily_ARM-type_fold		0.333	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	C	NM_005862		136141690	-1	no_errors	ENST00000383202	ensembl	human	known	70_37	missense	SNP	1.000	T
STAG3	10734	genome.wustl.edu	37	7	99786601	99786601	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:99786601C>G	ENST00000426455.1	+	7	1084	c.677C>G	c.(676-678)tCa>tGa	p.S226*	STAG3_ENST00000394018.2_Nonsense_Mutation_p.S168*|STAG3_ENST00000317296.5_Nonsense_Mutation_p.S226*	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	226					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTCAGACTCACAAGTCCGC	0.517																																																	0													108.0	105.0	106.0					7																	99786601		2203	4300	6503	SO:0001587	stop_gained	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.677C>G	7.37:g.99786601C>G	ENSP00000400359:p.Ser226*		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.S226*	ENST00000426455.1	37	c.677	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	.	38	7.084273	0.98051	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296;ENST00000439782	.	.	.	5.41	5.41	0.78517	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5918	16.7269	0.85424	0.0:1.0:0.0:0.0	.	.	.	.	X	226;168;184;226;168	.	ENSP00000319318:S226X	S	+	2	0	STAG3	99624537	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.473000	0.81007	2.821000	0.97095	0.555000	0.69702	TCA	STAG3	-	pfam_STAG		0.517	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	C	NM_012447		99786601	+1	no_errors	ENST00000317296	ensembl	human	known	70_37	nonsense	SNP	1.000	G
STARD10	10809	genome.wustl.edu	37	11	72492047	72492047	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:72492047C>T	ENST00000334805.6	-	2	1099	c.180G>A	c.(178-180)gaG>gaA	p.E60E	MIR4692_ENST00000583200.1_RNA|STARD10_ENST00000545082.1_Intron|STARD10_ENST00000538536.1_Intron|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000543304.1_Silent_p.E60E|STARD10_ENST00000538437.1_5'UTR	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	60	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCCGATCCATCTCCACAGCCT	0.597																																																	0													105.0	122.0	116.0					11																	72492047		2165	4257	6422	SO:0001819	synonymous_variant	10809			AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.180G>A	11.37:g.72492047C>T			O60532	Silent	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.E60	ENST00000334805.6	37	c.180	CCDS41688.1	11																																																																																			STARD10	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.597	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STARD10	HGNC	protein_coding	OTTHUMT00000397254.1	C			72492047	-1	no_errors	ENST00000334805	ensembl	human	known	70_37	silent	SNP	0.990	T
STARD9	57519	genome.wustl.edu	37	15	42944743	42944743	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42944743G>C	ENST00000290607.7	+	9	712	c.655G>C	c.(655-657)Gag>Cag	p.E219Q		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	219	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CCATGTTCATGAGGCCAGCAG	0.438																																																	0													257.0	196.0	215.0					15																	42944743		692	1590	2282	SO:0001583	missense	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.655G>C	15.37:g.42944743G>C	ENSP00000290607:p.Glu219Gln		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E219Q	ENST00000290607.7	37	c.655	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887614	0.72410	.	.	ENSG00000159433	ENST00000290607	T	0.75821	-0.97	5.14	4.21	0.49690	.	0.138666	0.48286	D	0.000197	T	0.64505	0.2604	N	0.21373	0.66	0.26657	N	0.971984	.	.	.	.	.	.	T	0.61734	-0.7002	8	0.72032	D	0.01	.	8.6847	0.34229	0.1545:0.0:0.8455:0.0	.	.	.	.	Q	219	ENSP00000290607:E219Q	ENSP00000290607:E219Q	E	+	1	0	STARD9	40732035	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.839000	0.55835	2.567000	0.86603	0.655000	0.94253	GAG	STARD9	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.438	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	G			42944743	+1	no_errors	ENST00000290607	ensembl	human	known	70_37	missense	SNP	0.993	C
STAT1	6772	genome.wustl.edu	37	2	191841680	191841680	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:191841680G>A	ENST00000361099.3	-	22	2332	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	STAT1_ENST00000392322.3_Missense_Mutation_p.R649C|STAT1_ENST00000409465.1_Missense_Mutation_p.R649C|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.R651C	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	649	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TTGTAATTGCGAATGATGTCA	0.403																																																	0													118.0	111.0	114.0					2																	191841680		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1945C>T	2.37:g.191841680G>A	ENSP00000354394:p.Arg649Cys		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.R649C	ENST00000361099.3	37	c.1945	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545441	0.86022	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.47	5.47	0.80525	SH2 motif (3);	0.046236	0.85682	D	0.000000	D	0.98197	0.9404	M	0.69358	2.11	0.80722	D	1	D;P	0.89917	1.0;0.892	D;P	0.83275	0.996;0.48	D	0.98519	1.0622	10	0.59425	D	0.04	-20.2056	19.5104	0.95139	0.0:0.0:1.0:0.0	.	649;649	P42224-2;P42224	.;STAT1_HUMAN	C	649;649;649;651	ENSP00000354394:R649C;ENSP00000386244:R649C;ENSP00000376136:R649C;ENSP00000376137:R651C	ENSP00000354394:R649C	R	-	1	0	STAT1	191549925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.412000	0.73303	2.847000	0.97988	0.655000	0.94253	CGC	STAT1	-	pfscan_SH2		0.403	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	G	NM_007315		191841680	-1	no_errors	ENST00000361099	ensembl	human	known	70_37	missense	SNP	1.000	A
STAT3	6774	genome.wustl.edu	37	17	40500481	40500481	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40500481G>C	ENST00000264657.5	-	2	366	c.54C>G	c.(52-54)ctC>ctG	p.L18L	STAT3_ENST00000404395.3_Silent_p.L18L|STAT3_ENST00000588969.1_Silent_p.L18L|STAT3_ENST00000585517.1_Silent_p.L18L|STAT3_ENST00000389272.3_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	18					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGAGCTGATGGAGCTGCTCCA	0.502									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													103.0	96.0	98.0					17																	40500481		2203	4300	6503	SO:0001819	synonymous_variant	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.54C>G	17.37:g.40500481G>C			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L18	ENST00000264657.5	37	c.54	CCDS32656.1	17																																																																																			STAT3	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction		0.502	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	G	NM_139276, NM_003150		40500481	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	silent	SNP	0.010	C
STIM2	57620	genome.wustl.edu	37	4	27019575	27019575	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:27019575G>C	ENST00000467011.1	+	11	2157	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	STIM2_ENST00000465503.1_Missense_Mutation_p.E586Q|STIM2_ENST00000237364.5_Missense_Mutation_p.E665Q|STIM2_ENST00000467087.1_Missense_Mutation_p.E578Q|STIM2_ENST00000382009.3_Missense_Mutation_p.E673Q|STIM2_ENST00000412829.2_Missense_Mutation_p.E665Q	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	578					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGAGGAGGAAGAGGCCATTTA	0.527																																																	0													254.0	249.0	251.0					4																	27019575		2203	4300	6503	SO:0001583	missense	57620			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1732G>C	4.37:g.27019575G>C	ENSP00000419383:p.Glu578Gln		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.E673Q	ENST00000467011.1	37	c.2017	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299552	0.81136	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.36672	1.1	0.54753	D	0.999989	P;D;D;D	0.63880	0.941;0.988;0.988;0.993	P;P;P;D	0.63033	0.616;0.815;0.815;0.91	T	0.60596	-0.7232	10	0.56958	D	0.05	.	18.9976	0.92819	0.0:0.0:1.0:0.0	.	578;665;673;665	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	Q	578;673;665;578;665;586;286;180	ENSP00000419073:E578Q;ENSP00000371439:E673Q;ENSP00000237364:E665Q;ENSP00000419383:E578Q;ENSP00000404812:E665Q;ENSP00000417569:E586Q;ENSP00000420113:E286Q;ENSP00000419536:E180Q	ENSP00000237364:E665Q	E	+	1	0	STIM2	26628673	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.900000	0.87376	2.483000	0.83821	0.460000	0.39030	GAG	STIM2	-	NULL		0.527	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1	G	NM_020860		27019575	+1	no_errors	ENST00000382009	ensembl	human	known	70_37	missense	SNP	1.000	C
STOX2	56977	genome.wustl.edu	37	4	184931020	184931020	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:184931020G>A	ENST00000308497.4	+	3	2464	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	STOX2_ENST00000438269.1_Silent_p.Q343Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	343					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAAAGGCCCAGAGGAGTAAAG	0.512																																																	0													21.0	21.0	21.0					4																	184931020		1894	4108	6002	SO:0001819	synonymous_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1029G>A	4.37:g.184931020G>A			A6H8U4|Q9NPS8	Silent	SNP	pfam_Storkhead-box_winged-helix	p.Q343	ENST00000308497.4	37	c.1029	CCDS47167.1	4																																																																																			STOX2	-	NULL		0.512	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	G	NM_020225		184931020	+1	no_errors	ENST00000308497	ensembl	human	known	70_37	silent	SNP	0.010	A
STPG1	90529	genome.wustl.edu	37	1	24695798	24695798	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:24695798G>A	ENST00000374409.1	-	7	992				STPG1_ENST00000337248.4_Intron|STPG1_ENST00000003583.8_Intron|STPG1_ENST00000468303.1_Intron|STPG1_ENST00000440416.1_Intron	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CACAGggaatgaggaaagact	0.498																																																	0																																										SO:0001627	intron_variant	90529			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.737+365C>T	1.37:g.24695798G>A			Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	RNA	SNP	-	NULL	ENST00000374409.1	37	NULL	CCDS55581.1	1																																																																																			STPG1	-	-		0.498	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	G	NM_178122		24695798	-1	no_errors	ENST00000497384	ensembl	human	known	70_37	rna	SNP	0.000	A
STRC	161497	genome.wustl.edu	37	15	43892273	43892273	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:43892273G>C	ENST00000450892.2	-	28	5201	c.5124C>G	c.(5122-5124)ctC>ctG	p.L1708L	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.L935L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1708					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GAGCACTGGTGAGACTAGATA	0.562																																																	0													103.0	87.0	93.0					15																	43892273		2199	4295	6494	SO:0001819	synonymous_variant	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.5124C>G	15.37:g.43892273G>C				Silent	SNP	NULL	p.L1708	ENST00000450892.2	37	c.5124	CCDS10098.1	15																																																																																			STRC	-	NULL		0.562	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		43892273	-1	no_errors	ENST00000450892	ensembl	human	known	70_37	silent	SNP	1.000	C
STRC	161497	genome.wustl.edu	37	15	43892280	43892280	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:43892280G>C	ENST00000450892.2	-	28	5194	c.5117C>G	c.(5116-5118)tCt>tGt	p.S1706C	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.S933C	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1706					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGTGAGACTAGATAGTTGGAT	0.572																																																	0													93.0	79.0	83.0					15																	43892280		2199	4295	6494	SO:0001583	missense	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.5117C>G	15.37:g.43892280G>C	ENSP00000401513:p.Ser1706Cys			Missense_Mutation	SNP	NULL	p.S1706C	ENST00000450892.2	37	c.5117	CCDS10098.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918229	0.52546	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.79352	-1.26;-1.22	4.81	2.88	0.33553	.	0.152228	0.44902	D	0.000403	T	0.79299	0.4422	L	0.32530	0.975	0.36016	D	0.838435	D;B	0.76494	0.999;0.047	D;B	0.79108	0.992;0.032	T	0.81529	-0.0891	10	0.66056	D	0.02	-7.9442	8.2784	0.31885	0.0882:0.1581:0.7536:0.0	.	933;1706	F5GXA4;Q7RTU9	.;STRC_HUMAN	C	1706;1706;933	ENSP00000401513:S1706C;ENSP00000440413:S933C	ENSP00000299992:S1706C	S	-	2	0	STRC	41679572	0.796000	0.28864	0.992000	0.48379	0.962000	0.63368	1.924000	0.40065	0.715000	0.32103	0.491000	0.48974	TCT	STRC	-	NULL		0.572	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		43892280	-1	no_errors	ENST00000450892	ensembl	human	known	70_37	missense	SNP	1.000	C
STXBP5	134957	genome.wustl.edu	37	6	147525730	147525730	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:147525730C>T	ENST00000321680.6	+	1	62	c.62C>T	c.(61-63)tCg>tTg	p.S21L	STXBP5_ENST00000546097.1_Missense_Mutation_p.S21L|STXBP5_ENST00000367481.3_Missense_Mutation_p.S21L|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000367480.3_Missense_Mutation_p.S21L|STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000179882.6_5'Flank	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	21					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCCTCGGCGTCGCAGCAGCAA	0.662																																																	0													22.0	28.0	26.0					6																	147525730		2202	4294	6496	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.62C>T	6.37:g.147525730C>T	ENSP00000321826:p.Ser21Leu		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.S21L	ENST00000321680.6	37	c.62	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666425	0.67814	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;D;T;T	0.86164	2.54;-2.08;2.53;2.65	3.89	3.89	0.44902	.	1.475540	0.04344	N	0.354507	T	0.75406	0.3845	L	0.47716	1.5	0.80722	D	1	P;P	0.44659	0.593;0.84	B;B	0.28385	0.043;0.089	T	0.71784	-0.4488	10	0.48119	T	0.1	.	15.8724	0.79132	0.0:1.0:0.0:0.0	.	21;21	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	L	21	ENSP00000356451:S21L;ENSP00000441479:S21L;ENSP00000321826:S21L;ENSP00000356450:S21L	ENSP00000321826:S21L	S	+	2	0	STXBP5	147567423	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.127000	0.50484	1.721000	0.51461	0.460000	0.39030	TCG	STXBP5	-	NULL		0.662	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	C			147525730	+1	no_errors	ENST00000321680	ensembl	human	known	70_37	missense	SNP	1.000	T
SULT6B1	391365	genome.wustl.edu	37	2	37410613	37410613	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:37410613G>A	ENST00000535679.1	-	3	356	c.357C>T	c.(355-357)ctC>ctT	p.L119L	SULT6B1_ENST00000260637.3_Silent_p.L81L|SULT6B1_ENST00000407963.1_Silent_p.L81L|SULT6B1_ENST00000379149.2_Intron			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	119						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGTCATAGTGGAGGTGAGTTG	0.373																																																	0													139.0	136.0	137.0					2																	37410613		2203	4300	6503	SO:0001819	synonymous_variant	391365			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.357C>T	2.37:g.37410613G>A			B2RTS7	Silent	SNP	pfam_Sulfotransferase_dom	p.L119	ENST00000535679.1	37	c.357		2																																																																																			SULT6B1	-	pfam_Sulfotransferase_dom		0.373	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		G	NM_001032377		37410613	-1	no_errors	ENST00000535679	ensembl	human	known	70_37	silent	SNP	1.000	A
SUCLG1	8802	genome.wustl.edu	37	2	84668473	84668473	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:84668473G>A	ENST00000393868.2	-	4	639	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	143					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TTCCTTCAGTGATACACACAA	0.498																																					Ovarian(48;203 1101 37206 40305 50790)												0													113.0	104.0	107.0					2																	84668473		2203	4300	6503	SO:0001819	synonymous_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.429C>T	2.37:g.84668473G>A			Q9BWB0|Q9UNP6	Silent	SNP	pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha	p.I143	ENST00000393868.2	37	c.429	CCDS1967.2	2																																																																																			SUCLG1	-	pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha		0.498	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	HGNC	protein_coding	OTTHUMT00000252298.2	G	NM_003849		84668473	-1	no_errors	ENST00000393868	ensembl	human	known	70_37	silent	SNP	0.557	A
SUSD2	56241	genome.wustl.edu	37	22	24582379	24582379	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:24582379G>C	ENST00000358321.3	+	10	1899	c.1638G>C	c.(1636-1638)ctG>ctC	p.L546L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	546	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGATGGACCTGAAAGGTGAGC	0.637																																																	0													79.0	61.0	67.0					22																	24582379		2203	4300	6503	SO:0001819	synonymous_variant	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1638G>C	22.37:g.24582379G>C			Q9H5Y6	Silent	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.L546	ENST00000358321.3	37	c.1638	CCDS13824.1	22																																																																																			SUSD2	-	pfam_VWF_type-D,smart_VWF_type-D		0.637	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	G	NM_019601		24582379	+1	no_errors	ENST00000358321	ensembl	human	known	70_37	silent	SNP	0.993	C
SUN2	25777	genome.wustl.edu	37	22	39132286	39132286	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:39132286C>T	ENST00000405510.1	-	19	2498	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	RP3-508I15.20_ENST00000609428.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.E714K|SUN2_ENST00000405018.1_Missense_Mutation_p.E735K|SUN2_ENST00000406622.1_Missense_Mutation_p.E714K|SUN2_ENST00000411587.2_Missense_Mutation_p.E703K|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	714	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGGGCGGGCTCCCCATGCACT	0.657																																																	0													92.0	80.0	84.0					22																	39132286		2203	4300	6503	SO:0001583	missense	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.2140G>A	22.37:g.39132286C>T	ENSP00000385740:p.Glu714Lys		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E714K	ENST00000405510.1	37	c.2140	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534179	0.64972	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.34	5.34	0.76211	Sad1/UNC-like, C-terminal (2);	0.292022	0.33732	N	0.004602	T	0.40546	0.1121	N	0.20845	0.615	0.50313	D	0.999862	P;P;B;P	0.52577	0.954;0.919;0.036;0.864	P;P;B;B	0.50378	0.639;0.467;0.102;0.382	T	0.15093	-1.0449	10	0.30854	T	0.27	-17.3119	18.6524	0.91435	0.0:1.0:0.0:0.0	.	703;749;735;714	B4DIU6;B4E2A6;B0QY62;Q9UH99	.;.;.;SUN2_HUMAN	K	714;714;735;714;703	ENSP00000385740:E714K;ENSP00000216064:E714K;ENSP00000385616:E735K;ENSP00000383992:E714K;ENSP00000395601:E703K	ENSP00000216064:E714K	E	-	1	0	SUN2	37462232	0.997000	0.39634	1.000000	0.80357	0.665000	0.39181	1.385000	0.34408	2.498000	0.84270	0.561000	0.74099	GAG	SUN2	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.657	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	C	XM_039332		39132286	-1	no_errors	ENST00000216064	ensembl	human	known	70_37	missense	SNP	1.000	T
SUSD4	55061	genome.wustl.edu	37	1	223402655	223402655	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:223402655C>T	ENST00000343846.3	-	5	1433	c.800G>A	c.(799-801)gGa>gAa	p.G267E	SUSD4_ENST00000454695.2_Missense_Mutation_p.G107E|SUSD4_ENST00000494793.2_Missense_Mutation_p.G267E|SUSD4_ENST00000484758.2_Missense_Mutation_p.G198E|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.G267E			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	267	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CACCACAGTTCCGTGGTTGTA	0.527																																																	0													94.0	102.0	100.0					1																	223402655		2120	4250	6370	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.800G>A	1.37:g.223402655C>T	ENSP00000344219:p.Gly267Glu		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G267E	ENST00000343846.3	37	c.800	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750563	0.89753	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.72394	-0.65;-0.65;-0.65	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47093	D	0.000251	D	0.85080	0.5615	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85641	0.1276	10	0.87932	D	0	-19.1852	20.1257	0.97981	0.0:1.0:0.0:0.0	.	267	Q5VX71	SUSD4_HUMAN	E	267;267;198;107	ENSP00000344219:G267E;ENSP00000355843:G267E;ENSP00000399288:G107E	ENSP00000344219:G267E	G	-	2	0	SUSD4	221469278	1.000000	0.71417	0.905000	0.35620	0.894000	0.52154	5.408000	0.66368	2.767000	0.95098	0.655000	0.94253	GGA	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.527	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223402655	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	missense	SNP	0.997	T
SV2B	9899	genome.wustl.edu	37	15	91835670	91835670	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:91835670C>T	ENST00000394232.1	+	13	2410	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	SV2B_ENST00000545111.2_Missense_Mutation_p.S496F|SV2B_ENST00000330276.4_Missense_Mutation_p.S647F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	647					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATCTTTGCTTCTTTTGTTGGG	0.488																																																	0													153.0	141.0	145.0					15																	91835670		2198	4298	6496	SO:0001583	missense	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1940C>T	15.37:g.91835670C>T	ENSP00000377779:p.Ser647Phe		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.S647F	ENST00000394232.1	37	c.1940	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	.	34	5.329667	0.95733	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.55052	0.54;0.54;0.54	6.12	6.12	0.99158	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.148807	0.64402	D	0.000007	T	0.69486	0.3116	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.60424	-0.7266	10	0.10111	T	0.7	-24.8671	19.4041	0.94641	0.0:1.0:0.0:0.0	.	647	Q7L1I2	SV2B_HUMAN	F	496;647;647	ENSP00000443243:S496F;ENSP00000377779:S647F;ENSP00000332818:S647F	ENSP00000332818:S647F	S	+	2	0	SV2B	89636674	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.588000	0.82629	2.932000	0.99384	0.644000	0.83932	TCT	SV2B	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.488	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3	C	NM_014848		91835670	+1	no_errors	ENST00000330276	ensembl	human	known	70_37	missense	SNP	1.000	T
SYCP2L	221711	genome.wustl.edu	37	6	10942745	10942745	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:10942745G>T	ENST00000283141.6	+	22	2163	c.1867G>T	c.(1867-1869)Gat>Tat	p.D623Y		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	623						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCACTCAGAAGATGAAGAAAA	0.368																																																	0													46.0	43.0	44.0					6																	10942745		1822	4078	5900	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1867G>T	6.37:g.10942745G>T	ENSP00000283141:p.Asp623Tyr		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.D623Y	ENST00000283141.6	37	c.1867	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	4.541	0.100525	0.08731	.	.	ENSG00000153157	ENST00000283141	T	0.18657	2.2	4.13	3.25	0.37280	.	0.631105	0.14198	N	0.334877	T	0.06234	0.0161	N	0.22421	0.69	0.33368	D	0.573266	P	0.49447	0.924	B	0.41036	0.346	T	0.17501	-1.0367	10	0.51188	T	0.08	-6.6541	8.2446	0.31680	0.1091:0.0:0.8909:0.0	.	623	Q5T4T6	SYC2L_HUMAN	Y	623	ENSP00000283141:D623Y	ENSP00000283141:D623Y	D	+	1	0	SYCP2L	11050731	0.985000	0.35326	0.340000	0.25575	0.076000	0.17211	0.348000	0.20031	1.288000	0.44600	0.655000	0.94253	GAT	SYCP2L	-	NULL		0.368	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	G	NM_194299		10942745	+1	no_errors	ENST00000283141	ensembl	human	known	70_37	missense	SNP	0.562	T
SYN3	8224	genome.wustl.edu	37	22	32914306	32914306	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:32914306G>A	ENST00000358763.2	-	13	1576	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	SYN3_ENST00000332840.5_Missense_Mutation_p.A445V|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	445	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGGAGACTGAGCTTGGCGAGG	0.527																																																	0													43.0	52.0	49.0					22																	32914306		2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1334C>T	22.37:g.32914306G>A	ENSP00000351614:p.Ala445Val		B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.A445V	ENST00000358763.2	37	c.1334	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261832	0.39995	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.31769	1.48;1.48	5.66	3.53	0.40419	.	0.705449	0.13275	N	0.400199	T	0.26738	0.0654	L	0.47716	1.5	0.42957	D	0.994399	B;B	0.18741	0.03;0.03	B;B	0.15870	0.014;0.014	T	0.05131	-1.0904	10	0.33141	T	0.24	-3.0247	10.0947	0.42469	0.0708:0.0:0.7908:0.1384	.	444;445	Q17R54;O14994	.;SYN3_HUMAN	V	445;445;79	ENSP00000351614:A445V;ENSP00000330219:A445V	ENSP00000330219:A445V	A	-	2	0	SYN3	31244306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.365000	0.59486	1.352000	0.45808	0.655000	0.94253	GCT	SYN3	-	NULL		0.527	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	G			32914306	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152470759	152470759	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:152470759C>T	ENST00000367255.5	-	136	25096	c.24495G>A	c.(24493-24495)caG>caA	p.Q8165Q	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.Q8094Q|SYNE1_ENST00000354674.4_Silent_p.Q320Q|SYNE1_ENST00000265368.4_Silent_p.Q8165Q|SYNE1_ENST00000341594.5_Silent_p.Q7777Q|SYNE1_ENST00000539504.1_Silent_p.Q320Q|SYNE1_ENST00000423061.1_Silent_p.Q8094Q|SYNE1_ENST00000356820.4_Silent_p.Q2689Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8165					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGCAATTATCTGCTCAATCT	0.448										HNSCC(10;0.0054)																																							0													108.0	106.0	106.0					6																	152470759		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24495G>A	6.37:g.152470759C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q8165	ENST00000367255.5	37	c.24495	CCDS5236.2	6																																																																																			SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152470759	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152806072	152806072	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:152806072C>T	ENST00000367255.5	-	13	1684	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	SYNE1_ENST00000466159.2_Silent_p.K361K|SYNE1_ENST00000448038.1_Silent_p.K368K|SYNE1_ENST00000265368.4_Silent_p.K361K|SYNE1_ENST00000367248.3_Silent_p.K351K|SYNE1_ENST00000341594.5_Silent_p.K361K|SYNE1_ENST00000367253.4_Silent_p.K361K|SYNE1_ENST00000423061.1_Silent_p.K368K|SYNE1_ENST00000413186.2_Silent_p.K361K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	361					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTTTCCTCTTCATTTCAT	0.363										HNSCC(10;0.0054)																																							0													140.0	125.0	130.0					6																	152806072		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1083G>A	6.37:g.152806072C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K361	ENST00000367255.5	37	c.1083	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_ABC_transptrTM_dom_typ1		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152806072	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64473783	64473783	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:64473783G>C	ENST00000344113.4	+	31	4632	c.4420G>C	c.(4420-4422)Gat>Cat	p.D1474H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1474H|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1474H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1474					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCAGACTGGATAAGGTTCT	0.343																																																	0													113.0	106.0	108.0					14																	64473783		1830	4084	5914	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4420G>C	14.37:g.64473783G>C	ENSP00000341781:p.Asp1474His		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D1474H	ENST00000344113.4	37	c.4420	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171762	0.38315	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58506	0.7;0.7;0.33	5.62	4.73	0.59995	.	0.339453	0.25161	N	0.032678	T	0.63710	0.2534	L	0.47716	1.5	0.80722	D	1	D;D	0.57571	0.966;0.98	P;P	0.58873	0.707;0.847	T	0.64153	-0.6474	10	0.52906	T	0.07	.	10.1438	0.42751	0.1536:0.0:0.8464:0.0	.	1474;1474	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	1474	ENSP00000350719:D1474H;ENSP00000341781:D1474H;ENSP00000452570:D1474H	ENSP00000261678:D1474H	D	+	1	0	SYNE2	63543536	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.374000	0.52402	1.362000	0.46000	0.655000	0.94253	GAT	SYNE2	-	smart_Spectrin/alpha-actinin		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64473783	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNE2	23224	genome.wustl.edu	37	14	64628920	64628920	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:64628920C>G	ENST00000344113.4	+	88	16437	c.16225C>G	c.(16225-16227)Caa>Gaa	p.Q5409E	SYNE2_ENST00000357395.3_Missense_Mutation_p.Q1794E|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1794E|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q5326E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q2043E|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q5409E|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5409					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAAAGTTTCAACAGCTCGC	0.537																																																	0													115.0	109.0	111.0					14																	64628920		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16225C>G	14.37:g.64628920C>G	ENSP00000341781:p.Gln5409Glu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q5409E	ENST00000344113.4	37	c.16225	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873644	0.17322	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.54866	0.86;4.17;0.87;0.55;4.21;4.17	5.74	2.5	0.30297	.	0.641961	0.13881	N	0.356353	T	0.41236	0.1150	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.18013	0.004;0.002;0.0;0.004;0.025	B;B;B;B;B	0.15484	0.012;0.003;0.001;0.008;0.013	T	0.26883	-1.0090	10	0.15066	T	0.55	.	7.614	0.28148	0.4623:0.3125:0.2252:0.0	.	1794;5332;5326;5409;5409	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	E	5409;1794;5409;5326;5332;2043;1794	ENSP00000350719:Q5409E;ENSP00000349969:Q1794E;ENSP00000341781:Q5409E;ENSP00000452570:Q5326E;ENSP00000450831:Q2043E;ENSP00000378249:Q1794E	ENSP00000261678:Q5332E	Q	+	1	0	SYNE2	63698673	0.003000	0.15002	0.085000	0.20634	0.759000	0.43091	1.179000	0.31993	0.699000	0.31761	0.655000	0.94253	CAA	SYNE2	-	NULL		0.537	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64628920	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.001	G
SYNE3	161176	genome.wustl.edu	37	14	95916270	95916270	+	Nonsense_Mutation	SNP	C	C	A	rs201231576	byFrequency	TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:95916270C>A	ENST00000334258.5	-	7	1461	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	SYNE3_ENST00000554873.1_Nonsense_Mutation_p.E240*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.E483*|SYNE3_ENST00000557275.1_Nonsense_Mutation_p.E483*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	483					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						ACGGTTACCTCGATCTGGGGC	0.662																																																	0													26.0	26.0	26.0					14																	95916270		2166	4235	6401	SO:0001587	stop_gained	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1447G>T	14.37:g.95916270C>A	ENSP00000334308:p.Glu483*		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E483*	ENST00000334258.5	37	c.1447	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	41	8.773721	0.98948	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	.	.	.	5.17	4.25	0.50352	.	0.000000	0.42682	D	0.000675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-28.0853	12.6477	0.56744	0.0:0.8329:0.1671:0.0	.	.	.	.	X	483;240;483;483	.	ENSP00000334308:E483X	E	-	1	0	C14orf49	94986023	0.995000	0.38212	0.998000	0.56505	0.868000	0.49771	1.651000	0.37302	1.103000	0.41568	0.591000	0.81541	GAG	SYNE3	-	NULL		0.662	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95916270	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SYS1	90196	genome.wustl.edu	37	20	43995845	43995845	+	3'UTR	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:43995845G>A	ENST00000243918.5	+	0	852				SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_3'UTR|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000372727.1_3'UTR	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein						protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCCCAGATCTGAGAGGAACCC	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	90196			AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.*90G>A	20.37:g.43995845G>A			C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	RNA	SNP	-	NULL	ENST00000243918.5	37	NULL	CCDS13351.1	20																																																																																			SYS1	-	-		0.532	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYS1	HGNC	protein_coding	OTTHUMT00000079453.2	G	NM_033542		43995845	+1	no_errors	ENST00000479779	ensembl	human	known	70_37	rna	SNP	0.945	A
SYT7	9066	genome.wustl.edu	37	11	61291312	61291312	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:61291312G>A	ENST00000263846.4	-	7	1221	c.894C>T	c.(892-894)atC>atT	p.I298I	SYT7_ENST00000542836.1_Silent_p.I342I|SYT7_ENST00000542670.1_Silent_p.I506I|SYT7_ENST00000540677.1_Silent_p.I373I|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000535826.1_Silent_p.I417I|SYT7_ENST00000539008.1_Silent_p.I581I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	298	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGCCCCCGATGTCCATGG	0.602																																																	0													299.0	283.0	288.0					11																	61291312		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.894C>T	11.37:g.61291312G>A			F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.I298	ENST00000263846.4	37	c.894	CCDS31577.1	11																																																																																			SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin		0.602	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61291312	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	1.000	A
SZT2	23334	genome.wustl.edu	37	1	43911609	43911609	+	Missense_Mutation	SNP	G	G	A	rs371683327		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:43911609G>A	ENST00000562955.1	+	62	8699	c.8699G>A	c.(8698-8700)cGa>cAa	p.R2900Q	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.R2058Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2957					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACAGAGGGTCGAGGCTCCTTC	0.517																																																	0													75.0	71.0	72.0					1																	43911609		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8699G>A	1.37:g.43911609G>A	ENSP00000457168:p.Arg2900Gln		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.R2900Q	ENST00000562955.1	37	c.8699	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279139	0.59758	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.4	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.40543	1.245	0.22961	N	0.998505	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.786	T	0.52102	-0.8620	9	0.87932	D	0	.	14.3439	0.66646	0.0:0.0:0.8502:0.1498	.	2957;2900	Q5T011;Q5T011-5	SZT2_HUMAN;.	Q	2058	.	ENSP00000361519:R2058Q	R	+	2	0	SZT2	43684196	1.000000	0.71417	0.840000	0.33206	0.531000	0.34715	7.204000	0.77872	1.239000	0.43787	-0.181000	0.13052	CGA	SZT2	-	NULL		0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	G	NM_015284		43911609	+1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	0.987	A
TACR3	6870	genome.wustl.edu	37	4	104640293	104640293	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:104640293C>T	ENST00000304883.2	-	1	680	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	180					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCTGTCCACCGCAATGGCCG	0.498																																																	0													47.0	46.0	46.0					4																	104640293		2203	4300	6503	SO:0001819	synonymous_variant	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.540G>A	4.37:g.104640293C>T			Q0P510	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.A180	ENST00000304883.2	37	c.540	CCDS3664.1	4																																																																																			TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	C	NM_001059		104640293	-1	no_errors	ENST00000304883	ensembl	human	known	70_37	silent	SNP	0.442	T
TAGLN2	8407	genome.wustl.edu	37	1	159889069	159889069	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:159889069G>A	ENST00000368097.4	-	4	763	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Silent_p.F151F|TAGLN2_ENST00000368096.1_Silent_p.F172F	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	151					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTACTTAGGGAACCAGTTGG	0.552																																																	0													68.0	68.0	68.0					1																	159889069		2203	4300	6503	SO:0001819	synonymous_variant	8407			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.453C>T	1.37:g.159889069G>A			E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Silent	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin	p.F172	ENST00000368097.4	37	c.516	CCDS1189.1	1																																																																																			TAGLN2	-	superfamily_CH-domain		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN2	HGNC	protein_coding	OTTHUMT00000059105.1	G	NM_003564		159889069	-1	no_errors	ENST00000368096	ensembl	human	known	70_37	silent	SNP	1.000	A
TARBP1	6894	genome.wustl.edu	37	1	234529131	234529131	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:234529131C>T	ENST00000040877.1	-	28	4536	c.4537G>A	c.(4537-4539)Gaa>Aaa	p.E1513K	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1513					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGCCACTGTTCTGCAGAGACA	0.453																																																	0													87.0	78.0	81.0					1																	234529131		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4537G>A	1.37:g.234529131C>T	ENSP00000040877:p.Glu1513Lys		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.E1513K	ENST00000040877.1	37	c.4537	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316395	0.81469	.	.	ENSG00000059588	ENST00000040877	T	0.29655	1.56	5.83	5.83	0.93111	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74509	-0.3642	10	0.66056	D	0.02	-12.4683	20.1067	0.97897	0.0:1.0:0.0:0.0	.	1513	Q13395	TARB1_HUMAN	K	1513	ENSP00000040877:E1513K	ENSP00000040877:E1513K	E	-	1	0	TARBP1	232595754	1.000000	0.71417	0.975000	0.42487	0.201000	0.24016	7.487000	0.81328	2.753000	0.94483	0.655000	0.94253	GAA	TARBP1	-	pfam_SpoU_MeTrfase		0.453	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	C	NM_005646		234529131	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	missense	SNP	1.000	T
TAS2R13	50838	genome.wustl.edu	37	12	11061381	11061381	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11061381C>T	ENST00000390677.2	-	1	780	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	173					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAAATGTTTCAAAGTCACTC	0.348																																																	0													94.0	98.0	97.0					12																	11061381		2203	4300	6503	SO:0001583	missense	50838			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.517G>A	12.37:g.11061381C>T	ENSP00000375095:p.Glu173Lys		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.E173K	ENST00000390677.2	37	c.517	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	C	1.119	-0.655971	0.03480	.	.	ENSG00000212128	ENST00000390677	T	0.00816	5.66	3.15	-3.61	0.04556	.	7.753460	0.00754	U	0.001094	T	0.00695	0.0023	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.16722	0.016	T	0.45483	-0.9258	10	0.07030	T	0.85	.	2.185	0.03884	0.2908:0.3441:0.2614:0.1037	.	173	Q9NYV9	T2R13_HUMAN	K	173	ENSP00000375095:E173K	ENSP00000375095:E173K	E	-	1	0	TAS2R13	10952648	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.217000	0.00553	-1.010000	0.03396	-2.445000	0.00210	GAA	TAS2R13	-	pfam_TAS2_rcpt		0.348	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	C			11061381	-1	no_errors	ENST00000390677	ensembl	human	known	70_37	missense	SNP	0.000	T
TAS2R30	259293	genome.wustl.edu	37	12	11286061	11286061	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11286061G>A	ENST00000539585.1	-	1	1182	c.783C>T	c.(781-783)ttC>ttT	p.F261F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	261					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GGCAGAACATGAAGACAGGTT	0.393																																																	0													138.0	147.0	144.0					12																	11286061		2194	4297	6491	SO:0001819	synonymous_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.783C>T	12.37:g.11286061G>A			Q645X7	Silent	SNP	pfam_TAS2_rcpt	p.F261	ENST00000539585.1	37	c.783	CCDS53750.1	12																																																																																			TAS2R30	-	pfam_TAS2_rcpt		0.393	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	G	NM_001097643		11286061	-1	no_errors	ENST00000539585	ensembl	human	known	70_37	silent	SNP	0.000	A
TAS2R30	259293	genome.wustl.edu	37	12	11286276	11286276	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11286276G>A	ENST00000539585.1	-	1	967	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	190					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ATCAGGGTCAGAGTGAGGGGT	0.418																																																	0													189.0	200.0	196.0					12																	11286276		2203	4300	6503	SO:0001819	synonymous_variant	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.568C>T	12.37:g.11286276G>A			Q645X7	Silent	SNP	pfam_TAS2_rcpt	p.L190	ENST00000539585.1	37	c.568	CCDS53750.1	12																																																																																			TAS2R30	-	pfam_TAS2_rcpt		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	G	NM_001097643		11286276	-1	no_errors	ENST00000539585	ensembl	human	known	70_37	silent	SNP	0.000	A
TAS2R30	259293	genome.wustl.edu	37	12	11286503	11286503	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:11286503G>A	ENST00000539585.1	-	1	740	c.341C>T	c.(340-342)tCc>tTc	p.S114F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	114					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATAAGGTTGGAGAAATTGGC	0.398																																																	0													109.0	113.0	111.0					12																	11286503		2038	4219	6257	SO:0001583	missense	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.341C>T	12.37:g.11286503G>A	ENSP00000444736:p.Ser114Phe		Q645X7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S114F	ENST00000539585.1	37	c.341	CCDS53750.1	12	.	.	.	.	.	.	.	.	.	.	-	11.98	1.800230	0.31869	.	.	ENSG00000256188	ENST00000539585	T	0.35789	1.29	2.7	0.647	0.17796	.	.	.	.	.	T	0.59307	0.2184	M	0.90019	3.08	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45991	-0.9223	9	0.56958	D	0.05	.	3.7144	0.08433	0.1587:0.259:0.5823:0.0	.	114	P59541	T2R30_HUMAN	F	114	ENSP00000444736:S114F	ENSP00000444736:S114F	S	-	2	0	TAS2R30	11177770	0.962000	0.33011	0.016000	0.15963	0.031000	0.12232	1.344000	0.33941	0.021000	0.15133	0.313000	0.20887	TCC	TAS2R30	-	pfam_TAS2_rcpt		0.398	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	G	NM_001097643		11286503	-1	no_errors	ENST00000539585	ensembl	human	known	70_37	missense	SNP	0.065	A
TAT	6898	genome.wustl.edu	37	16	71606214	71606214	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:71606214C>A	ENST00000355962.4	-	6	714	c.581G>T	c.(580-582)tGg>tTg	p.W194L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	194					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GTCAATTTCCCAAGATTTCTC	0.398																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0													107.0	104.0	105.0					16																	71606214		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.581G>T	16.37:g.71606214C>A	ENSP00000348234:p.Trp194Leu		B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.W194L	ENST00000355962.4	37	c.581	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311805	0.60414	.	.	ENSG00000198650	ENST00000355962	D	0.88509	-2.39	6.17	6.17	0.99709	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96778	0.8948	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96940	0.9687	10	0.87932	D	0	-16.6102	20.8794	0.99867	0.0:1.0:0.0:0.0	.	194	P17735	ATTY_HUMAN	L	194	ENSP00000348234:W194L	ENSP00000348234:W194L	W	-	2	0	TAT	70163715	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG	TAT	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.398	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	C			71606214	-1	no_errors	ENST00000355962	ensembl	human	known	70_37	missense	SNP	1.000	A
TBC1D15	64786	genome.wustl.edu	37	12	72266761	72266761	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:72266761C>G	ENST00000550746.1	+	3	246	c.182C>G	c.(181-183)tCt>tGt	p.S61C	TBC1D15_ENST00000319106.8_Missense_Mutation_p.S69C|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.S61C	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	61					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTAGATTCCTCTAGTATTCTC	0.299																																																	0													119.0	129.0	126.0					12																	72266761		2203	4299	6502	SO:0001583	missense	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.182C>G	12.37:g.72266761C>G	ENSP00000448182:p.Ser61Cys		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S61C	ENST00000550746.1	37	c.182	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338074	0.81911	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.36340	1.26;1.26;1.26	5.47	5.47	0.80525	Domain of unknown function DUF3548 (1);	0.066382	0.64402	D	0.000006	T	0.59473	0.2196	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.985;0.974;0.998	T	0.61068	-0.7137	10	0.87932	D	0	-12.8951	19.3389	0.94334	0.0:1.0:0.0:0.0	.	69;61;61	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	C	61;69;61	ENSP00000448182:S61C;ENSP00000318262:S69C;ENSP00000420678:S61C	ENSP00000318262:S69C	S	+	2	0	TBC1D15	70553028	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.498000	0.60373	2.575000	0.86900	0.655000	0.94253	TCT	TBC1D15	-	pfam_DUF3548		0.299	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	C	NM_022771		72266761	+1	no_errors	ENST00000550746	ensembl	human	known	70_37	missense	SNP	1.000	G
TBC1D25	4943	genome.wustl.edu	37	X	48418773	48418773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:48418773C>T	ENST00000376771.4	+	6	1818	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Nonsense_Mutation_p.Q239*	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	493					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACAGCCAGTCAGGGGCCTGG	0.637																																																	0													30.0	34.0	32.0					X																	48418773		2203	4295	6498	SO:0001587	stop_gained	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1477C>T	X.37:g.48418773C>T	ENSP00000365962:p.Gln493*		Q08AN9|Q3MII4|Q8TAR9	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q493*	ENST00000376771.4	37	c.1477	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002965	0.74932	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	.	.	.	4.91	3.06	0.35304	.	0.612418	0.15462	N	0.261069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-2.1338	8.5797	0.33621	0.1664:0.6732:0.1605:0.0	.	.	.	.	X	493;239	.	ENSP00000365962:Q493X	Q	+	1	0	TBC1D25	48303717	0.571000	0.26659	0.829000	0.32907	0.194000	0.23727	1.569000	0.36428	2.275000	0.75901	0.436000	0.28706	CAG	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom		0.637	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	C	NM_002536		48418773	+1	no_errors	ENST00000376771	ensembl	human	known	70_37	nonsense	SNP	0.072	T
TBC1D4	9882	genome.wustl.edu	37	13	76055553	76055553	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:76055553G>A	ENST00000377636.3	-	1	697	c.351C>T	c.(349-351)ttC>ttT	p.F117F	TBC1D4_ENST00000431480.2_Silent_p.F117F|TBC1D4_ENST00000377625.2_Silent_p.F117F|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	117	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTCGAAGATGAATACCGCCG	0.672																																																	0													83.0	97.0	92.0					13																	76055553		2154	4263	6417	SO:0001819	synonymous_variant	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.351C>T	13.37:g.76055553G>A			A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.F117	ENST00000377636.3	37	c.351	CCDS41901.1	13																																																																																			TBC1D4	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom		0.672	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	G	NM_014832		76055553	-1	no_errors	ENST00000377636	ensembl	human	known	70_37	silent	SNP	1.000	A
TBC1D5	9779	genome.wustl.edu	37	3	17202618	17202618	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:17202618C>T	ENST00000253692.7	-	22	3889	c.2225G>A	c.(2224-2226)aGa>aAa	p.R742K	TBC1D5_ENST00000446818.2_Missense_Mutation_p.R764K|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.R742K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	742						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGAGGTGCTTCTGAGGGTGCG	0.597																																																	0													49.0	54.0	52.0					3																	17202618		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2225G>A	3.37:g.17202618C>T	ENSP00000253692:p.Arg742Lys		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R742K	ENST00000253692.7	37	c.2225	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083740	0.20309	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.29142	1.58;1.58;1.6	5.63	3.61	0.41365	.	0.475577	0.24458	N	0.038341	T	0.11707	0.0285	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10823	-1.0613	10	0.10636	T	0.68	-7.1497	4.1954	0.10441	0.0:0.5361:0.0:0.4639	.	764;742;742	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	K	742;742;764	ENSP00000253692:R742K;ENSP00000398127:R742K;ENSP00000402935:R764K	ENSP00000253692:R742K	R	-	2	0	TBC1D5	17177622	0.998000	0.40836	0.925000	0.36789	0.709000	0.40893	1.383000	0.34385	1.389000	0.46526	0.561000	0.74099	AGA	TBC1D5	-	NULL		0.597	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	C	NM_014744		17202618	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	0.903	T
TBC1D5	9779	genome.wustl.edu	37	3	17550029	17550029	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:17550029G>C	ENST00000253692.7	-	3	1698	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	TBC1D5_ENST00000446818.2_Missense_Mutation_p.L12V|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L12V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	12						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCTGGCTGCAGAGGATGTCTA	0.408																																																	0													165.0	142.0	149.0					3																	17550029		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.34C>G	3.37:g.17550029G>C	ENSP00000253692:p.Leu12Val		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L12V	ENST00000253692.7	37	c.34	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653972	0.47362	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877;ENST00000446863;ENST00000434420;ENST00000444471;ENST00000433533	T;T;T;T;T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.88	3.09	0.35607	.	0.000000	0.64402	D	0.000001	T	0.37598	0.1009	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.991	T	0.15694	-1.0428	10	0.87932	D	0	-10.739	8.6074	0.33782	0.2934:0.0:0.7066:0.0	.	12;12	C9JP52;Q92609	.;TBCD5_HUMAN	V	12	ENSP00000253692:L12V;ENSP00000398127:L12V;ENSP00000402935:L12V;ENSP00000396239:L12V;ENSP00000387395:L12V;ENSP00000399967:L12V;ENSP00000410596:L12V;ENSP00000393882:L12V;ENSP00000424998:L12V;ENSP00000415379:L12V;ENSP00000414159:L12V;ENSP00000396850:L12V;ENSP00000408603:L12V	ENSP00000253692:L12V	L	-	1	2	TBC1D5	17525033	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	1.624000	0.37018	1.483000	0.48342	0.561000	0.74099	CTG	TBC1D5	-	NULL		0.408	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	G	NM_014744		17550029	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	C
TBC1D9B	23061	genome.wustl.edu	37	5	179303026	179303026	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:179303026G>A	ENST00000356834.3	-	11	1831	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	TBC1D9B_ENST00000355235.3_Silent_p.I598I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	598	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGTCACGATGTTCATTG	0.632																																																	0													57.0	47.0	50.0					5																	179303026		2202	4300	6502	SO:0001819	synonymous_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1794C>T	5.37:g.179303026G>A			D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.I598	ENST00000356834.3	37	c.1794	CCDS43408.1	5																																																																																			TBC1D9B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	G	NM_015043		179303026	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	silent	SNP	0.983	A
TBX18	9096	genome.wustl.edu	37	6	85446793	85446793	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:85446793G>A	ENST00000369663.5	-	8	1771	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	478					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGGGCAGCTGAAGGTGTCCC	0.587																																																	0													130.0	128.0	129.0					6																	85446793		2203	4300	6503	SO:0001819	synonymous_variant	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1434C>T	6.37:g.85446793G>A			A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.F478	ENST00000369663.5	37	c.1434	CCDS34495.1	6																																																																																			TBX18	-	NULL		0.587	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	G	NM_001080508		85446793	-1	no_errors	ENST00000369663	ensembl	human	known	70_37	silent	SNP	1.000	A
TBX18	9096	genome.wustl.edu	37	6	85447111	85447111	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:85447111G>A	ENST00000369663.5	-	8	1453	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	372					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAGCAAGGTGGAGGAACTTG	0.478																																																	0													59.0	62.0	61.0					6																	85447111		2203	4300	6503	SO:0001819	synonymous_variant	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1116C>T	6.37:g.85447111G>A			A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S372	ENST00000369663.5	37	c.1116	CCDS34495.1	6																																																																																			TBX18	-	NULL		0.478	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	G	NM_001080508		85447111	-1	no_errors	ENST00000369663	ensembl	human	known	70_37	silent	SNP	0.160	A
TBPL1	9519	genome.wustl.edu	37	6	134305765	134305765	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:134305765G>C	ENST00000237264.4	+	6	712	c.437G>C	c.(436-438)aGa>aCa	p.R146T	TBPL1_ENST00000367871.1_Missense_Mutation_p.R146T|TBPL1_ENST00000477527.1_Intron	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	146					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AAATCTCTAAGAGCTACATTA	0.323																																																	0													50.0	50.0	50.0					6																	134305765		2203	4298	6501	SO:0001583	missense	9519			AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.437G>C	6.37:g.134305765G>C	ENSP00000237264:p.Arg146Thr		A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.R146T	ENST00000237264.4	37	c.437	CCDS5168.1	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048956	0.75846	.	.	ENSG00000028839	ENST00000367871;ENST00000237264	.	.	.	5.83	5.83	0.93111	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.124522	0.64402	D	0.000001	T	0.63885	0.2549	M	0.70903	2.155	0.52099	D	0.999943	P	0.45634	0.863	P	0.46685	0.524	T	0.69273	-0.5188	9	0.87932	D	0	-20.4563	19.1704	0.93575	0.0:0.0:1.0:0.0	.	146	P62380	TBPL1_HUMAN	T	146	.	ENSP00000237264:R146T	R	+	2	0	TBPL1	134347458	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.065000	0.71176	2.771000	0.95319	0.650000	0.86243	AGA	TBPL1	-	pfam_TBP,prints_TBP		0.323	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL1	HGNC	protein_coding	OTTHUMT00000042294.2	G			134305765	+1	no_errors	ENST00000237264	ensembl	human	known	70_37	missense	SNP	1.000	C
TCEA3	6920	genome.wustl.edu	37	1	23744603	23744603	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:23744603C>G	ENST00000450454.2	-	3	239				TCEA3_ENST00000461794.1_Intron|TCEA3_ENST00000374601.3_Intron	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3						regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACCTCCCCTTCCAACCTGGAC	0.587																																																	0																																										SO:0001627	intron_variant	6920			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.133-101G>C	1.37:g.23744603C>G			A8K2K7|Q5DR83	RNA	SNP	-	NULL	ENST00000450454.2	37	NULL	CCDS44086.1	1																																																																																			TCEA3	-	-		0.587	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TCEA3	HGNC	protein_coding	OTTHUMT00000008911.2	C	NM_003196		23744603	-1	no_errors	ENST00000492271	ensembl	human	known	70_37	rna	SNP	0.001	G
TCEANC	170082	genome.wustl.edu	37	X	13681559	13681559	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:13681559A>G	ENST00000380600.1	+	2	1019	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TCEANC_ENST00000314720.4_Missense_Mutation_p.D341G|TCEANC_ENST00000544987.1_Missense_Mutation_p.D311G|TCEANC_ENST00000545566.1_Missense_Mutation_p.D311G|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	311					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						ACTGTAATTGACAGAGGAACA	0.413																																																	0													48.0	38.0	41.0					X																	13681559		1908	4099	6007	SO:0001583	missense	170082				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.932A>G	X.37:g.13681559A>G	ENSP00000369974:p.Asp311Gly		A6NI06|B2RDM3	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFS2M,pirsf_TF_IIS-rel	p.D341G	ENST00000380600.1	37	c.1022		X	.	.	.	.	.	.	.	.	.	.	A	10.62	1.402585	0.25291	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.42900	0.97;0.97;0.96;0.97	5.41	3.6	0.41247	.	0.502377	0.18486	N	0.139796	T	0.22666	0.0547	N	0.08118	0	0.24613	N	0.993716	B;B	0.12013	0.005;0.001	B;B	0.13407	0.009;0.001	T	0.14615	-1.0466	10	0.11794	T	0.64	.	13.9473	0.64094	0.2797:0.7203:0.0:0.0	.	341;311	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	G	311;311;341;311	ENSP00000438952:D311G;ENSP00000440038:D311G;ENSP00000313886:D341G;ENSP00000369974:D311G	ENSP00000313886:D341G	D	+	2	0	TCEANC	13591480	1.000000	0.71417	0.540000	0.28089	0.878000	0.50629	3.662000	0.54510	0.467000	0.27218	-0.223000	0.12442	GAC	TCEANC	-	pirsf_TF_IIS-rel		0.413	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	A	NM_152634		13681559	+1	no_errors	ENST00000314720	ensembl	human	known	70_37	missense	SNP	0.996	G
TCERG1L	256536	genome.wustl.edu	37	10	133058588	133058588	+	Missense_Mutation	SNP	C	C	T	rs144481929		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:133058588C>T	ENST00000368642.4	-	4	875	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	264										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CGCGGCTGCACGCTGGAGGGG	0.697																																																	0								C	MET/VAL	0,4406		0,0,2203	22.0	25.0	24.0		790	2.2	0.5	10	dbSNP_134	24	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCERG1L	NM_174937.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	264/587	133058588	1,13005	2203	4300	6503	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.790G>A	10.37:g.133058588C>T	ENSP00000357631:p.Val264Met		Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.V264M	ENST00000368642.4	37	c.790	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	C	8.954	0.968869	0.18659	0.0	1.16E-4	ENSG00000176769	ENST00000368642	T	0.27402	1.67	5.2	2.16	0.27623	.	0.458058	0.19371	N	0.115901	T	0.14527	0.0351	N	0.21448	0.665	0.28221	N	0.926515	P	0.35242	0.492	B	0.21546	0.035	T	0.15235	-1.0444	10	0.24483	T	0.36	-3.9029	7.4249	0.27094	0.0:0.6988:0.0:0.3012	.	264	Q5VWI1	TCRGL_HUMAN	M	264	ENSP00000357631:V264M	ENSP00000357631:V264M	V	-	1	0	TCERG1L	132948578	0.001000	0.12720	0.493000	0.27502	0.302000	0.27658	-0.572000	0.05881	0.136000	0.18733	-0.345000	0.07892	GTG	TCERG1L	-	NULL		0.697	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	C	NM_174937		133058588	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	0.830	T
TCF7L1	83439	genome.wustl.edu	37	2	85360955	85360955	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:85360955G>C	ENST00000282111.3	+	1	423	c.148G>C	c.(148-150)Gag>Cag	p.E50Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	50	CTNNB1-binding. {ECO:0000250}.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGAGGAGCAGGAGCCGAGCAG	0.716																																																	0													17.0	17.0	17.0					2																	85360955		2102	4123	6225	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.148G>C	2.37:g.85360955G>C	ENSP00000282111:p.Glu50Gln		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E50Q	ENST00000282111.3	37	c.148	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759886	0.89932	.	.	ENSG00000152284	ENST00000282111	D	0.99042	-5.36	3.91	3.91	0.45181	CTNNB1 binding, N-teminal (1);	0.078447	0.49305	U	0.000143	D	0.98554	0.9517	M	0.83774	2.66	0.41898	D	0.990404	P	0.47484	0.896	P	0.46419	0.516	D	0.99466	1.0944	10	0.87932	D	0	.	13.7387	0.62833	0.0:0.0:1.0:0.0	.	50	Q9HCS4	TF7L1_HUMAN	Q	50	ENSP00000282111:E50Q	ENSP00000282111:E50Q	E	+	1	0	TCF7L1	85214466	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	8.442000	0.90317	1.876000	0.54355	0.557000	0.71058	GAG	TCF7L1	-	pfam_CTNNB1-bd_N		0.716	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	G	NM_031283		85360955	+1	no_errors	ENST00000282111	ensembl	human	known	70_37	missense	SNP	1.000	C
TCN2	6948	genome.wustl.edu	37	22	31008988	31008988	+	Nonsense_Mutation	SNP	C	C	G	rs200868221		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:31008988C>G	ENST00000215838.3	+	3	880	c.386C>G	c.(385-387)tCa>tGa	p.S129*	TCN2_ENST00000407817.3_Intron|TCN2_ENST00000405742.3_Nonsense_Mutation_p.S125*			P20062	TCO2_HUMAN	transcobalamin II	129					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTGGTCTCACAGCTCAAA	0.597																																																	0													54.0	50.0	52.0					22																	31008988		2203	4300	6503	SO:0001587	stop_gained	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.386C>G	22.37:g.31008988C>G	ENSP00000215838:p.Ser129*		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Nonsense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.S129*	ENST00000215838.3	37	c.386	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.585751	0.97684	.	.	ENSG00000185339	ENST00000215838;ENST00000405742	.	.	.	5.41	5.41	0.78517	.	0.215079	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.6432	16.1181	0.81324	0.0:1.0:0.0:0.0	.	.	.	.	X	129;125	.	ENSP00000215838:S129X	S	+	2	0	TCN2	29338988	0.980000	0.34600	0.993000	0.49108	0.954000	0.61252	4.207000	0.58480	2.541000	0.85698	0.655000	0.94253	TCA	TCN2	-	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase		0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	C	NM_000355		31008988	+1	no_errors	ENST00000215838	ensembl	human	known	70_37	nonsense	SNP	0.996	G
TCP10	6953	genome.wustl.edu	37	6	167772839	167772839	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:167772839G>C	ENST00000366827.2	-	8	1062	c.851C>G	c.(850-852)tCa>tGa	p.S284*				Q12799	TCP10_HUMAN	t-complex 10	0						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTCCATCCTTGAGATGTTCCA	0.433																																																	0																																										SO:0001587	stop_gained	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000366827.2:c.851C>G	6.37:g.167772839G>C	ENSP00000355792:p.Ser284*		Q5JR60|Q6P4F4	Nonsense_Mutation	SNP	NULL	p.S284*	ENST00000366827.2	37	c.851		6	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584660	0.46110	.	.	ENSG00000203690	ENST00000366827	.	.	.	3.47	-6.95	0.01628	.	.	.	.	.	.	.	.	.	.	.	0.21064	N	0.999796	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	6.2441	0.20807	0.3054:0.3663:0.3283:0.0	.	.	.	.	X	284	.	ENSP00000355792:S284X	S	-	2	0	TCP10	167692829	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.324000	0.02690	-1.178000	0.02741	0.313000	0.20887	TCA	TCP10	-	NULL		0.433	TCP10-001	PUTATIVE	basic|appris_candidate	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000043135.3	G	NM_004610		167772839	-1	no_errors	ENST00000366827	ensembl	human	putative	70_37	nonsense	SNP	0.002	C
TDP1	55775	genome.wustl.edu	37	14	90429835	90429835	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:90429835G>C	ENST00000335725.4	+	3	627	c.377G>C	c.(376-378)aGa>aCa	p.R126T	TDP1_ENST00000393452.3_Missense_Mutation_p.R126T|TDP1_ENST00000555880.1_Missense_Mutation_p.R126T|TDP1_ENST00000393454.2_Missense_Mutation_p.R126T|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	126					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACTGCCCAAAGAACTGAAAAT	0.527								Repair of DNA-protein crosslinks																																									0													51.0	50.0	51.0					14																	90429835		2203	4300	6503	SO:0001583	missense	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.377G>C	14.37:g.90429835G>C	ENSP00000337353:p.Arg126Thr		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.R126T	ENST00000335725.4	37	c.377	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603879	0.28534	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T;T	0.32515	1.45;2.2;1.7;2.02;1.7;1.61;1.61;1.61;1.79;1.47	5.36	-2.38	0.06622	.	0.494159	0.24652	N	0.036720	T	0.15219	0.0367	L	0.40543	1.245	0.09310	N	0.999996	B;B;B;B	0.16802	0.001;0.001;0.019;0.0	B;B;B;B	0.15052	0.002;0.001;0.012;0.0	T	0.19582	-1.0301	10	0.14252	T	0.57	-3.7641	1.7378	0.02945	0.4381:0.1027:0.2506:0.2086	.	126;126;126;126	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	T	126;126;126;27;126;126;126;126;126;126	ENSP00000377098:R126T;ENSP00000450872:R126T;ENSP00000377099:R126T;ENSP00000450708:R27T;ENSP00000337353:R126T;ENSP00000452279:R126T;ENSP00000451358:R126T;ENSP00000452333:R126T;ENSP00000452183:R126T;ENSP00000450628:R126T	ENSP00000337353:R126T	R	+	2	0	TDP1	89499588	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.477000	0.22196	-0.435000	0.07264	0.561000	0.74099	AGA	TDP1	-	NULL		0.527	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	G	NM_018319		90429835	+1	no_errors	ENST00000335725	ensembl	human	known	70_37	missense	SNP	0.000	C
TDP1	55775	genome.wustl.edu	37	14	90429933	90429933	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:90429933G>C	ENST00000335725.4	+	3	725	c.475G>C	c.(475-477)Gat>Cat	p.D159H	TDP1_ENST00000393452.3_Missense_Mutation_p.D159H|TDP1_ENST00000555880.1_Missense_Mutation_p.D159H|TDP1_ENST00000393454.2_Missense_Mutation_p.D159H|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	159					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGACATGCTGGATAAAGGGAA	0.517								Repair of DNA-protein crosslinks																																									0													63.0	59.0	60.0					14																	90429933		2203	4300	6503	SO:0001583	missense	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.475G>C	14.37:g.90429933G>C	ENSP00000337353:p.Asp159His		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.D159H	ENST00000335725.4	37	c.475	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392302	0.25118	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.67;1.57	5.36	1.45	0.22620	.	1.058070	0.07230	N	0.862309	T	0.30665	0.0772	L	0.51422	1.61	0.33608	D	0.603209	P;P;P;B	0.48503	0.664;0.533;0.911;0.156	B;B;P;B	0.45474	0.107;0.05;0.482;0.031	T	0.37753	-0.9692	10	0.45353	T	0.12	-14.2336	4.7173	0.12901	0.3613:0.2794:0.3593:0.0	.	159;159;159;159	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	H	159;159;159;60;159;159;159	ENSP00000377098:D159H;ENSP00000450872:D159H;ENSP00000377099:D159H;ENSP00000450708:D60H;ENSP00000337353:D159H;ENSP00000452183:D159H;ENSP00000450628:D159H	ENSP00000337353:D159H	D	+	1	0	TDP1	89499686	0.817000	0.29147	0.057000	0.19452	0.982000	0.71751	0.699000	0.25586	-0.005000	0.14395	0.561000	0.74099	GAT	TDP1	-	NULL		0.517	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	G	NM_018319		90429933	+1	no_errors	ENST00000335725	ensembl	human	known	70_37	missense	SNP	0.114	C
TDRD6	221400	genome.wustl.edu	37	6	46660917	46660917	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:46660917G>A	ENST00000316081.6	+	1	5052	c.5052G>A	c.(5050-5052)ttG>ttA	p.L1684L	TDRD6_ENST00000544460.1_Silent_p.L1684L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1684					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGTTGACTTGAAAAGCAAAG	0.303																																																	0													37.0	40.0	39.0					6																	46660917		2203	4295	6498	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5052G>A	6.37:g.46660917G>A			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L1684	ENST00000316081.6	37	c.5052	CCDS34470.1	6																																																																																			TDRD6	-	NULL		0.303	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46660917	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	silent	SNP	0.716	A
TECPR2	9895	genome.wustl.edu	37	14	102918826	102918826	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:102918826G>A	ENST00000359520.7	+	16	3728	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E1168K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1168					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTGCCTCCCGAAGCCGAGAT	0.677																																																	0													32.0	31.0	31.0					14																	102918826		2203	4299	6502	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3502G>A	14.37:g.102918826G>A	ENSP00000352510:p.Glu1168Lys		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.E1168K	ENST00000359520.7	37	c.3502	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983610	0.53827	.	.	ENSG00000196663	ENST00000359520	T	0.14144	2.53	5.87	5.87	0.94306	.	0.217568	0.46145	D	0.000314	T	0.12774	0.0310	N	0.19112	0.55	0.32609	N	0.524824	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.06935	-1.0799	10	0.72032	D	0.01	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	351;1168;1168	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	K	1168	ENSP00000352510:E1168K	ENSP00000352510:E1168K	E	+	1	0	TECPR2	101988579	1.000000	0.71417	0.257000	0.24404	0.056000	0.15407	9.147000	0.94646	2.779000	0.95612	0.655000	0.94253	GAA	TECPR2	-	superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR		0.677	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	G	NM_014844		102918826	+1	no_errors	ENST00000359520	ensembl	human	known	70_37	missense	SNP	0.993	A
TEDDM1	127670	genome.wustl.edu	37	1	182369123	182369123	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:182369123C>T	ENST00000367565.1	-	1	628	c.498G>A	c.(496-498)atG>atA	p.M166I		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	166						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AGGAGCCCATCATCAGAATCA	0.517																																																	0													73.0	75.0	74.0					1																	182369123		2203	4300	6503	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"""putative membrane protein HE9"", ""transmembrane protein 45C"", ""epididymal protein 9"""						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.498G>A	1.37:g.182369123C>T	ENSP00000356536:p.Met166Ile		Q8IVJ0	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.M166I	ENST00000367565.1	37	c.498	CCDS30953.1	1	.	.	.	.	.	.	.	.	.	.	c	6.544	0.468551	0.12461	.	.	ENSG00000203730	ENST00000367565	T	0.40756	1.02	4.92	-4.14	0.03892	.	1.343820	0.04646	N	0.406104	T	0.32645	0.0836	L	0.39898	1.24	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.24870	-1.0148	10	0.28530	T	0.3	-10.9514	9.9629	0.41708	0.1082:0.1774:0.639:0.0754	.	166	Q5T9Z0	TEDM1_HUMAN	I	166	ENSP00000356536:M166I	ENSP00000356536:M166I	M	-	3	0	TEDDM1	180635746	0.209000	0.23505	0.004000	0.12327	0.519000	0.34347	-0.565000	0.05929	-1.080000	0.03109	-0.215000	0.12644	ATG	TEDDM1	-	pfam_DUF716_TMEM45		0.517	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEDDM1	HGNC	protein_coding	OTTHUMT00000091029.1	C	NM_172000		182369123	-1	no_errors	ENST00000367565	ensembl	human	known	70_37	missense	SNP	0.002	T
TEKT1	83659	genome.wustl.edu	37	17	6704097	6704097	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:6704097C>T	ENST00000338694.2	-	7	1147	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	TEKT1_ENST00000535086.1_Missense_Mutation_p.E194K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	340						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCTTGAACCTCCTTCATTAGC	0.562											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													216.0	190.0	199.0					17																	6704097		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1018G>A	17.37:g.6704097C>T	ENSP00000341346:p.Glu340Lys	636	D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E340K	ENST00000338694.2	37	c.1018	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.271297	0.95429	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.10005	2.92;2.92	5.84	5.84	0.93424	.	0.098481	0.64402	D	0.000002	T	0.47078	0.1426	H	0.94264	3.515	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.58555	-0.7616	10	0.87932	D	0	.	18.0168	0.89243	0.0:1.0:0.0:0.0	.	340	Q969V4	TEKT1_HUMAN	K	340;194	ENSP00000341346:E340K;ENSP00000444142:E194K	ENSP00000341346:E340K	E	-	1	0	TEKT1	6644821	1.000000	0.71417	0.812000	0.32479	0.878000	0.50629	5.523000	0.67099	2.937000	0.99478	0.650000	0.86243	GAG	TEKT1	-	pfam_Tektin,prints_Tektin		0.562	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704097	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.988	T
TEKT1	83659	genome.wustl.edu	37	17	6704202	6704202	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:6704202C>T	ENST00000338694.2	-	7	1042	c.913G>A	c.(913-915)Gac>Aac	p.D305N	TEKT1_ENST00000535086.1_Missense_Mutation_p.D159N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	305						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTTCTTGGTCAAGGATGGCC	0.502																																																	0													161.0	159.0	160.0					17																	6704202		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.913G>A	17.37:g.6704202C>T	ENSP00000341346:p.Asp305Asn		D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.D305N	ENST00000338694.2	37	c.913	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930483	0.92389	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03004	4.08;4.08	5.85	4.86	0.63082	.	0.144298	0.64402	D	0.000010	T	0.15305	0.0369	M	0.84585	2.705	0.40544	D	0.981054	P	0.47545	0.897	P	0.53360	0.724	T	0.01319	-1.1386	10	0.54805	T	0.06	.	14.7447	0.69483	0.0:0.8491:0.1509:0.0	.	305	Q969V4	TEKT1_HUMAN	N	305;159	ENSP00000341346:D305N;ENSP00000444142:D159N	ENSP00000341346:D305N	D	-	1	0	TEKT1	6644926	0.997000	0.39634	0.952000	0.39060	0.997000	0.91878	3.943000	0.56621	1.585000	0.49928	0.655000	0.94253	GAC	TEKT1	-	pfam_Tektin,prints_Tektin		0.502	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704202	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.981	T
TEKT1	83659	genome.wustl.edu	37	17	6704217	6704217	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:6704217C>T	ENST00000338694.2	-	7	1027	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	TEKT1_ENST00000535086.1_Missense_Mutation_p.E154K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	300						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATGGCCTTTTCAAGAGCTGTA	0.512																																																	0													142.0	143.0	143.0					17																	6704217		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.898G>A	17.37:g.6704217C>T	ENSP00000341346:p.Glu300Lys		D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E300K	ENST00000338694.2	37	c.898	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834706	0.16820	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02446	4.29;4.29	5.85	3.76	0.43208	.	0.456228	0.25408	N	0.030891	T	0.01523	0.0049	N	0.11313	0.125	0.31562	N	0.657372	B	0.10296	0.003	B	0.16289	0.015	T	0.39800	-0.9596	10	0.15499	T	0.54	.	5.2575	0.15555	0.0:0.6604:0.1823:0.1572	.	300	Q969V4	TEKT1_HUMAN	K	300;154	ENSP00000341346:E300K;ENSP00000444142:E154K	ENSP00000341346:E300K	E	-	1	0	TEKT1	6644941	0.932000	0.31603	1.000000	0.80357	0.993000	0.82548	1.573000	0.36472	2.941000	0.99782	0.655000	0.94253	GAA	TEKT1	-	pfam_Tektin		0.512	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704217	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.980	T
TENM3	55714	genome.wustl.edu	37	4	183603092	183603092	+	Missense_Mutation	SNP	G	G	A	rs371272255		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:183603092G>A	ENST00000511685.1	+	11	2083	c.1960G>A	c.(1960-1962)Ggc>Agc	p.G654S	TENM3_ENST00000406950.2_Missense_Mutation_p.G654S|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	654	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCAGTGCTCCGGCCACGGAAC	0.502																																																	0								G	SER/GLY	0,4020		0,0,2010	89.0	87.0	88.0		1960	5.5	1.0	4		88	1,8325		0,1,4162	no	missense	ODZ3	NM_001080477.1	56	0,1,6172	AA,AG,GG		0.012,0.0,0.0081	benign	654/2700	183603092	1,12345	2010	4163	6173	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1960G>A	4.37:g.183603092G>A	ENSP00000424226:p.Gly654Ser		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G654S	ENST00000511685.1	37	c.1960	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027001	0.75390	0.0	1.2E-4	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.32753	1.44;1.44	5.5	5.5	0.81552	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.42944	0.1225	M	0.66939	2.045	0.58432	D	0.999999	P	0.52463	0.953	P	0.46825	0.528	T	0.32428	-0.9907	9	0.49607	T	0.09	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	654	Q9P273	TEN3_HUMAN	S	654	ENSP00000424226:G654S;ENSP00000385276:G654S	ENSP00000385276:G654S	G	+	1	0	ODZ3	183840086	1.000000	0.71417	0.997000	0.53966	0.643000	0.38383	7.583000	0.82559	2.861000	0.98227	0.655000	0.94253	GGC	TENM3	-	smart_EG-like_dom,pfscan_EG-like_dom		0.502	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183603092	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	A
TIMELESS	8914	genome.wustl.edu	37	12	56827324	56827324	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:56827324C>G	ENST00000553532.1	-	4	514	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E122Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E122Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCCTCACCTCTTTGTAGGCC	0.493																																																	0													105.0	111.0	109.0					12																	56827324		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.364G>C	12.37:g.56827324C>G	ENSP00000450607:p.Glu122Gln			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E122Q	ENST00000553532.1	37	c.364	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693510	0.68386	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.67523	-0.27;-0.27;0.78	5.42	5.42	0.78866	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.42632	1.34	0.51233	D	0.999916	D;D	0.63880	0.991;0.993	P;D	0.63381	0.861;0.914	T	0.69206	-0.5206	10	0.26408	T	0.33	-23.9945	18.3784	0.90442	0.0:1.0:0.0:0.0	.	122;122	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	Q	122	ENSP00000229201:E122Q;ENSP00000450607:E122Q;ENSP00000450848:E122Q	ENSP00000229201:E122Q	E	-	1	0	TIMELESS	55113591	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.873000	0.56093	2.712000	0.92718	0.650000	0.86243	GAG	TIMELESS	-	pfam_Timeless		0.493	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56827324	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G
TIMELESS	8914	genome.wustl.edu	37	12	56827699	56827699	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:56827699C>G	ENST00000553532.1	-	3	259	c.109G>C	c.(109-111)Gat>Cat	p.D37H	TIMELESS_ENST00000229201.4_Missense_Mutation_p.D37H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.D37H					timeless circadian clock									p.D37Y(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGGATCAGATCCTTCACGCTC	0.522																																																	1	Substitution - Missense(1)	lung(1)											107.0	106.0	107.0					12																	56827699		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.109G>C	12.37:g.56827699C>G	ENSP00000450607:p.Asp37His			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.D37H	ENST00000553532.1	37	c.109	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080027	0.76528	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.51574	0.7;0.7;0.7	5.44	5.44	0.79542	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.68443	-0.5407	10	0.87932	D	0	-19.4834	18.4236	0.90600	0.0:1.0:0.0:0.0	.	37;37	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	H	37	ENSP00000229201:D37H;ENSP00000450607:D37H;ENSP00000450848:D37H	ENSP00000229201:D37H	D	-	1	0	TIMELESS	55113966	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.598000	0.82745	2.735000	0.93741	0.555000	0.69702	GAT	TIMELESS	-	pfam_Timeless		0.522	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56827699	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G
TLL1	7092	genome.wustl.edu	37	4	166914025	166914025	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:166914025G>A	ENST00000061240.2	+	3	997	c.350G>A	c.(349-351)aGa>aAa	p.R117K	TLL1_ENST00000507499.1_Missense_Mutation_p.R117K|TLL1_ENST00000513213.1_Missense_Mutation_p.R117K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	117					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGATAAGAAGAATTGGCTTT	0.368																																																	0													103.0	102.0	102.0					4																	166914025		2203	4299	6502	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.350G>A	4.37:g.166914025G>A	ENSP00000061240:p.Arg117Lys		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.R117K	ENST00000061240.2	37	c.350	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972970	0.53614	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.79454	0.54;0.48;0.4;-1.27	5.52	5.52	0.82312	.	0.057900	0.64402	U	0.000005	T	0.62575	0.2439	L	0.28274	0.84	0.47659	D	0.999483	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.57004	-0.7885	10	0.05833	T	0.94	.	13.698	0.62591	0.0738:0.0:0.9262:0.0	.	117;117	E9PD25;O43897	.;TLL1_HUMAN	K	117;117;117;17	ENSP00000061240:R117K;ENSP00000426082:R117K;ENSP00000422937:R117K;ENSP00000423748:R17K	ENSP00000061240:R117K	R	+	2	0	TLL1	167133475	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.679000	0.74513	2.599000	0.87857	0.563000	0.77884	AGA	TLL1	-	pirsf_BMP_1/tolloid-like		0.368	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	G			166914025	+1	no_errors	ENST00000061240	ensembl	human	known	70_37	missense	SNP	1.000	A
TLR3	7098	genome.wustl.edu	37	4	187000002	187000002	+	Silent	SNP	C	C	T	rs149945790		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:187000002C>T	ENST00000296795.3	+	3	554	c.450C>T	c.(448-450)atC>atT	p.I150I	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	150					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGAATTTAATCACATTAGATC	0.313																																																	0								C		0,4400		0,0,2200	33.0	36.0	35.0		450	2.7	1.0	4	dbSNP_134	35	3,8591	2.2+/-6.3	0,3,4294	no	coding-synonymous	TLR3	NM_003265.2		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		150/905	187000002	3,12991	2200	4297	6497	SO:0001819	synonymous_variant	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.450C>T	4.37:g.187000002C>T			B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I150	ENST00000296795.3	37	c.450	CCDS3846.1	4																																																																																			TLR3	-	NULL		0.313	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	C			187000002	+1	no_errors	ENST00000296795	ensembl	human	known	70_37	silent	SNP	0.029	T
TLR3	7098	genome.wustl.edu	37	4	187004149	187004149	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:187004149G>A	ENST00000296795.3	+	4	1413	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	TLR3_ENST00000504367.1_Missense_Mutation_p.D160N	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	437					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGAAGTACTTGACCTGGGCCT	0.408																																																	0													63.0	59.0	60.0					4																	187004149		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1309G>A	4.37:g.187004149G>A	ENSP00000296795:p.Asp437Asn		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D437N	ENST00000296795.3	37	c.1309	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268886	0.23221	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.57907	0.37;0.37	5.78	5.78	0.91487	.	0.196855	0.53938	D	0.000052	T	0.51092	0.1654	M	0.66939	2.045	0.44946	D	0.997968	P	0.42871	0.792	B	0.35688	0.208	T	0.50931	-0.8769	10	0.19147	T	0.46	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	437	O15455	TLR3_HUMAN	N	437;437;160	ENSP00000296795:D437N;ENSP00000423684:D160N	ENSP00000296795:D437N	D	+	1	0	TLR3	187241143	0.988000	0.35896	1.000000	0.80357	0.151000	0.21798	1.889000	0.39718	2.736000	0.93811	0.557000	0.71058	GAC	TLR3	-	smart_Leu-rich_rpt_typical-subtyp		0.408	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	G			187004149	+1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	1.000	A
TMC2	117532	genome.wustl.edu	37	20	2539295	2539295	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:2539295G>C	ENST00000358864.1	+	3	291	c.276G>C	c.(274-276)gaG>gaC	p.E92D		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	92	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCGAGGCAGAGAGGACCTGCG	0.677																																																	0													24.0	25.0	24.0					20																	2539295		2190	4289	6479	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.276G>C	20.37:g.2539295G>C	ENSP00000351732:p.Glu92Asp		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.E92D	ENST00000358864.1	37	c.276	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	g	10.06	1.245736	0.22796	.	.	ENSG00000149488	ENST00000358864	T	0.50548	0.74	4.29	-0.12	0.13539	.	0.894418	0.09648	N	0.774014	T	0.38931	0.1059	L	0.59436	1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31024	-0.9958	10	0.32370	T	0.25	-3.2075	5.2672	0.15605	0.1984:0.3549:0.4467:0.0	.	92;92	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	D	92	ENSP00000351732:E92D	ENSP00000351732:E92D	E	+	3	2	TMC2	2487295	0.016000	0.18221	0.007000	0.13788	0.005000	0.04900	0.445000	0.21677	-0.073000	0.12842	-0.323000	0.08544	GAG	TMC2	-	NULL		0.677	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2539295	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.041	C
TMC3	342125	genome.wustl.edu	37	15	81625474	81625474	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:81625474G>A	ENST00000359440.5	-	22	2724	c.2589C>T	c.(2587-2589)atC>atT	p.I863I	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.I864I|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGGAGGGTTGATTTGCTGAA	0.502																																																	0													142.0	139.0	140.0					15																	81625474		1962	4164	6126	SO:0001819	synonymous_variant	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2589C>T	15.37:g.81625474G>A				Silent	SNP	pfam_TMC	p.I863	ENST00000359440.5	37	c.2589	CCDS45324.1	15																																																																																			TMC3	-	NULL		0.502	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	G	NM_181841		81625474	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	silent	SNP	0.000	A
TANGO6	79613	genome.wustl.edu	37	16	68877531	68877531	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:68877531G>C	ENST00000261778.1	+	1	23	c.11G>C	c.(10-12)cGa>cCa	p.R4P		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	4						integral component of membrane (GO:0016021)											ATGGCGGCCCGACAGGCCGTG	0.667																																																	0													57.0	69.0	65.0					16																	68877531		1896	4117	6013	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.11G>C	16.37:g.68877531G>C	ENSP00000261778:p.Arg4Pro		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.R4P	ENST00000261778.1	37	c.11	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331117	0.24167	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.09	-0.647	0.11468	.	.	.	.	.	T	0.26085	0.0636	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20438	-1.0275	8	0.30854	T	0.27	2.9534	9.2588	0.37599	0.0:0.288:0.4816:0.2304	.	4	Q9C0B7	TMCO7_HUMAN	P	4	.	ENSP00000261778:R4P	R	+	2	0	TMCO7	67435032	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.603000	0.05674	-0.139000	0.11414	-0.277000	0.10078	CGA	TMCO7	-	NULL		0.667	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2		68877531	+1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	0.000	C
TMEM108	66000	genome.wustl.edu	37	3	133109176	133109176	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:133109176G>C	ENST00000321871.6	+	5	1813	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	TMEM108_ENST00000393130.3_Missense_Mutation_p.E535Q|TMEM108_ENST00000508711.1_Missense_Mutation_p.E65Q	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	535						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACCTCTGAGGTAATGAG	0.532																																																	0													206.0	200.0	202.0					3																	133109176		2203	4300	6503	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1603G>C	3.37:g.133109176G>C	ENSP00000324651:p.Glu535Gln		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.E535Q	ENST00000321871.6	37	c.1603	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451652	0.43531	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.67698	-0.28;-0.28	5.14	4.25	0.50352	.	0.302594	0.25283	N	0.031790	T	0.78984	0.4370	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.67548	0.634;0.952	T	0.80799	-0.1221	10	0.62326	D	0.03	-14.7874	14.8464	0.70264	0.0:0.0:0.8549:0.1451	.	65;535	B3KT64;Q6UXF1	.;TM108_HUMAN	Q	535;535;65	ENSP00000324651:E535Q;ENSP00000376838:E535Q	ENSP00000324651:E535Q	E	+	1	0	TMEM108	134591866	1.000000	0.71417	0.923000	0.36655	0.699000	0.40488	9.025000	0.93694	1.125000	0.41998	0.655000	0.94253	GAG	TMEM108	-	NULL		0.532	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	G	NM_023943		133109176	+1	no_errors	ENST00000321871	ensembl	human	known	70_37	missense	SNP	0.998	C
TMEM132B	114795	genome.wustl.edu	37	12	125811144	125811144	+	5'Flank	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:125811144C>T	ENST00000299308.3	+	0	0				TMEM132B_ENST00000418253.2_Intron	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B							integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGGTGCCCTCGCCTCAGCTC	0.537																																																	0													32.0	34.0	34.0					12																	125811144		1990	4164	6154	SO:0001631	upstream_gene_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7			12.37:g.125811144C>T	Exception_encountered		A2RRG8|Q8NA73|Q96JN9|Q96PY1	RNA	SNP	-	NULL	ENST00000299308.3	37	NULL	CCDS41859.1	12																																																																																			TMEM132B	-	-		0.537	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	C	NM_052907		125811144	+1	no_errors	ENST00000535330	ensembl	human	known	70_37	rna	SNP	0.000	T
TMEM176A	55365	genome.wustl.edu	37	7	150499329	150499329	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:150499329G>C	ENST00000484928.1	+	3	782	c.201G>C	c.(199-201)ttG>ttC	p.L67F	TMEM176A_ENST00000004103.3_Missense_Mutation_p.L67F|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L8F|TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000326442.5_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176B_ENST00000447204.2_5'Flank|TMEM176B_ENST00000492607.1_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	67					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGATCTTGAGTGCAGTCC	0.567																																																	0													162.0	137.0	145.0					7																	150499329		2203	4300	6503	SO:0001583	missense	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.201G>C	7.37:g.150499329G>C	ENSP00000417626:p.Leu67Phe		D3DX00|Q9NYC7	Missense_Mutation	SNP	pfam_CD20-like	p.L67F	ENST00000484928.1	37	c.201	CCDS5909.1	7	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983584	0.53827	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29	4.6	0.722	0.18225	.	0.550372	0.16425	N	0.214988	T	0.04003	0.0112	M	0.64997	1.995	0.09310	N	1	B	0.28760	0.221	B	0.33846	0.171	T	0.34428	-0.9829	10	0.66056	D	0.02	-14.3634	3.8081	0.08786	0.3032:0.1832:0.5135:0.0	.	67	Q96HP8	T176A_HUMAN	F	67;67;8;19;8	ENSP00000417626:L67F;ENSP00000004103:L67F;ENSP00000420818:L8F;ENSP00000417834:L19F;ENSP00000420081:L8F	ENSP00000004103:L67F	L	+	3	2	TMEM176A	150130262	0.155000	0.22806	0.004000	0.12327	0.193000	0.23685	-0.101000	0.10973	0.265000	0.21872	-0.305000	0.09177	TTG	TMEM176A	-	pfam_CD20-like		0.567	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM176A	HGNC	protein_coding	OTTHUMT00000350222.1	G	NM_018487		150499329	+1	no_errors	ENST00000004103	ensembl	human	known	70_37	missense	SNP	0.004	C
TMEM200A	114801	genome.wustl.edu	37	6	130762478	130762478	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:130762478G>A	ENST00000296978.3	+	3	1782	c.911G>A	c.(910-912)aGt>aAt	p.S304N	TMEM200A_ENST00000392429.1_Missense_Mutation_p.S304N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S304N	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	304						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GATGAGCCCAGTATAGATAAC	0.408																																																	0													126.0	122.0	123.0					6																	130762478		2203	4300	6503	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.911G>A	6.37:g.130762478G>A	ENSP00000296978:p.Ser304Asn		Q96PX5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.S304N	ENST00000296978.3	37	c.911	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	G	9.299	1.052581	0.19907	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.165132	0.64402	D	0.000017	T	0.19208	0.0461	N	0.08118	0	0.36429	D	0.864829	B	0.20671	0.047	B	0.19148	0.024	T	0.06373	-1.0830	9	0.37606	T	0.19	-14.83	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	304	Q86VY9	T200A_HUMAN	N	304	.	ENSP00000296978:S304N	S	+	2	0	TMEM200A	130804171	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.295000	0.72744	2.805000	0.96524	0.655000	0.94253	AGT	TMEM200A	-	NULL		0.408	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	G	NM_052913		130762478	+1	no_errors	ENST00000296978	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM50B	757	genome.wustl.edu	37	21	34828327	34828327	+	Intron	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:34828327C>G	ENST00000542230.2	-	6	588					NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						TTCTTTTAGTCAAAGTAATTG	0.373																																																	0																																										SO:0001627	intron_variant	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.374-236G>C	21.37:g.34828327C>G			B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	pfam_UPF0220	p.D151H	ENST00000542230.2	37	c.451	CCDS13625.1	21																																																																																			TMEM50B	-	NULL		0.373	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50B	HGNC	protein_coding	OTTHUMT00000140080.5	C			34828327	-1	no_errors	ENST00000442441	ensembl	human	known	70_37	missense	SNP	0.001	G
TMEM60	85025	genome.wustl.edu	37	7	77423670	77423670	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:77423670C>G	ENST00000257663.3	-	2	397	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	7						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GTAGTACTCTCTGAGCCAAGG	0.398																																																	0													65.0	65.0	65.0					7																	77423670		2203	4300	6503	SO:0001583	missense	85025			AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.21G>C	7.37:g.77423670C>G	ENSP00000257663:p.Gln7His		A4D1C3|Q86UM0	Missense_Mutation	SNP	pfam_TM_Fragile-X-F-assoc	p.Q7H	ENST00000257663.3	37	c.21	CCDS5593.1	7	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834675	0.16820	.	.	ENSG00000135211	ENST00000257663	T	0.22336	1.96	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	N	0.25426	0.745	0.40204	D	0.977541	B	0.32543	0.375	B	0.34418	0.182	T	0.11991	-1.0565	10	0.15952	T	0.53	-5.1812	11.9687	0.53051	0.0:0.8518:0.0:0.1482	.	7	Q9H2L4	TMM60_HUMAN	H	7	ENSP00000257663:Q7H	ENSP00000257663:Q7H	Q	-	3	2	TMEM60	77261606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.668000	0.37481	1.586000	0.49944	0.655000	0.94253	CAG	TMEM60	-	NULL		0.398	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM60	HGNC	protein_coding	OTTHUMT00000253185.2	C	NM_032936		77423670	-1	no_errors	ENST00000257663	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM63B	55362	genome.wustl.edu	37	6	44107469	44107469	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:44107469G>C	ENST00000259746.9	+	8	758	c.575G>C	c.(574-576)aGa>aCa	p.R192T	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.R192T			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	192					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGCTTTGGGAGAACCACCATT	0.582																																																	0													154.0	127.0	136.0					6																	44107469		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.575G>C	6.37:g.44107469G>C	ENSP00000259746:p.Arg192Thr		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.R192T	ENST00000259746.9	37	c.575	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.551835|3.551835	0.65311|0.65311	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000532634;ENST00000323267	.|T;T;T	.|0.45276	.|0.9;0.9;0.9	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.86864|0.86864	2.845|2.845	0.54753|0.54753	D|D	0.999985|0.999985	.|B;P;P	.|0.48503	.|0.108;0.911;0.493	.|B;P;B	.|0.54965	.|0.172;0.765;0.234	T|T	0.66444|0.66444	-0.5922|-0.5922	5|10	.|0.87932	.|D	.|0	.|.	15.3698|15.3698	0.74554|0.74554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192;192;192	.|Q5T3F8-3;Q5T3F8;Q5T3F8-2	.|.;TM63B_HUMAN;.	Q|T	121|192	.|ENSP00000259746:R192T;ENSP00000437163:R192T;ENSP00000327154:R192T	.|ENSP00000259746:R192T	E|R	+|+	1|2	0|0	TMEM63B|TMEM63B	44215447|44215447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.229000|9.229000	0.95273|0.95273	2.207000|2.207000	0.71202|0.71202	0.462000|0.462000	0.41574|0.41574	GAA|AGA	TMEM63B	-	NULL		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	G	XM_166410		44107469	+1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM63C	57156	genome.wustl.edu	37	14	77686352	77686352	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:77686352G>C	ENST00000298351.4	+	5	378	c.234G>C	c.(232-234)ctG>ctC	p.L78L	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	78					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTGGCAGCCTGACCTCGCTGA	0.612																																																	0													36.0	38.0	37.0					14																	77686352		1999	4143	6142	SO:0001819	synonymous_variant	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.234G>C	14.37:g.77686352G>C			B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	pfam_DUF221	p.L78	ENST00000298351.4	37	c.234	CCDS45141.1	14																																																																																			TMEM63C	-	NULL		0.612	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	G			77686352	+1	no_errors	ENST00000298351	ensembl	human	known	70_37	silent	SNP	1.000	C
TMEM74B	55321	genome.wustl.edu	37	20	1161999	1161999	+	Silent	SNP	A	A	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:1161999A>T	ENST00000381894.3	-	2	935	c.264T>A	c.(262-264)ccT>ccA	p.P88P	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	88						integral component of membrane (GO:0016021)											AGACACCCCCAGGGGGACTGG	0.632																																																	0													40.0	49.0	46.0					20																	1161999		2202	4300	6502	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.264T>A	20.37:g.1161999A>T			D3DVW5	Silent	SNP	NULL	p.P88	ENST00000381894.3	37	c.264	CCDS13011.1	20																																																																																			TMEM74B	-	NULL		0.632	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	A	NM_018354		1161999	-1	no_errors	ENST00000381894	ensembl	human	known	70_37	silent	SNP	0.000	T
TMEM87A	25963	genome.wustl.edu	37	15	42553440	42553440	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42553440G>A	ENST00000389834.4	-	5	677	c.413C>T	c.(412-414)tCt>tTt	p.S138F	TMEM87A_ENST00000448392.1_Missense_Mutation_p.S77F|TMEM87A_ENST00000307216.6_Missense_Mutation_p.S138F|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	138						integral component of membrane (GO:0016021)		p.S138F(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AAAATCTCCAGAAAAGGTCTA	0.318																																																	2	Substitution - Missense(2)	lung(2)											35.0	36.0	35.0					15																	42553440		2198	4298	6496	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.413C>T	15.37:g.42553440G>A	ENSP00000374484:p.Ser138Phe		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S138F	ENST00000389834.4	37	c.413	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512510	0.64522	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	4.64	4.64	0.57946	.	0.218240	0.39687	N	0.001299	T	0.43478	0.1249	N	0.24115	0.695	0.30223	N	0.79659	B;B;D	0.76494	0.146;0.261;0.999	B;B;D	0.83275	0.023;0.046;0.996	T	0.20207	-1.0282	9	0.02654	T	1	-11.046	13.1824	0.59662	0.0:0.0:1.0:0.0	.	138;77;138	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	F	138;77;114;138	.	ENSP00000305894:S138F	S	-	2	0	TMEM87A	40340732	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.815000	0.48018	2.578000	0.87016	0.467000	0.42956	TCT	TMEM87A	-	NULL		0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	G	NM_015497		42553440	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM87A	25963	genome.wustl.edu	37	15	42556300	42556300	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:42556300G>C	ENST00000389834.4	-	4	657	c.393C>G	c.(391-393)ctC>ctG	p.L131L	TMEM87A_ENST00000448392.1_Silent_p.L70L|TMEM87A_ENST00000307216.6_Silent_p.L131L|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	131						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GTGTTTTAAAGAGTTCACTGC	0.333																																																	0													132.0	131.0	131.0					15																	42556300		2202	4297	6499	SO:0001819	synonymous_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.393C>G	15.37:g.42556300G>C			Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	pfam_TM_rcpt_euk	p.L131	ENST00000389834.4	37	c.393	CCDS32205.1	15																																																																																			TMEM87A	-	NULL		0.333	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	G	NM_015497		42556300	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	silent	SNP	1.000	C
TMEM8C	389827	genome.wustl.edu	37	9	136385318	136385318	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:136385318C>G	ENST00000339996.3	-	2	329	c.228G>C	c.(226-228)ctG>ctC	p.L76L	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	76					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CCCACATGCTCAGGGCTGTCC	0.597																																																	0													117.0	97.0	103.0					9																	136385318		2203	4300	6503	SO:0001819	synonymous_variant	389827			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.228G>C	9.37:g.136385318C>G				Silent	SNP	pfam_DUF3522	p.L76	ENST00000339996.3	37	c.228	CCDS35170.1	9																																																																																			TMEM8C	-	pfam_DUF3522		0.597	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	HGNC	protein_coding	OTTHUMT00000356200.2	C	NM_001080483		136385318	-1	no_errors	ENST00000339996	ensembl	human	known	70_37	silent	SNP	0.998	G
TNFRSF1A	7132	genome.wustl.edu	37	12	6442925	6442925	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:6442925G>C	ENST00000162749.2	-	3	599	c.300C>G	c.(298-300)ctC>ctG	p.L100L	TNFRSF1A_ENST00000366159.4_Silent_p.L100L|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Intron	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	100					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TGGAGCAGCTGAGGCAGTGTC	0.592																																																	0													63.0	53.0	57.0					12																	6442925		2202	4297	6499	SO:0001819	synonymous_variant	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.300C>G	12.37:g.6442925G>C			A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Nonsense_Mutation	SNP	NULL	p.S49*	ENST00000162749.2	37	c.146	CCDS8542.1	12																																																																																			TNFRSF1A	-	NULL		0.592	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	G	NM_001065		6442925	-1	no_errors	ENST00000534885	ensembl	human	known	70_37	nonsense	SNP	0.486	C
TNPO2	30000	genome.wustl.edu	37	19	12826312	12826312	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:12826312G>C	ENST00000592287.1	-	6	581	c.473C>G	c.(472-474)tCa>tGa	p.S158*	TNPO2_ENST00000450764.2_Nonsense_Mutation_p.S158*|TNPO2_ENST00000441499.1_Nonsense_Mutation_p.S158*|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Nonsense_Mutation_p.S158*|TNPO2_ENST00000356861.5_Nonsense_Mutation_p.S158*|TNPO2_ENST00000425528.1_Nonsense_Mutation_p.S158*	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	158					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGAAGCTCTGATGAGTCTTC	0.587																																																	0													69.0	73.0	71.0					19																	12826312		1977	4157	6134	SO:0001587	stop_gained	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.473C>G	19.37:g.12826312G>C	ENSP00000468434:p.Ser158*		O14655|Q6IN77	Nonsense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.S158*	ENST00000592287.1	37	c.473	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.661783	0.97743	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.7864	18.7135	0.91667	0.0:0.0:1.0:0.0	.	.	.	.	X	322;158;158;158;158;158;158	.	ENSP00000349321:S158X	S	-	2	0	TNPO2	12687312	1.000000	0.71417	0.109000	0.21407	0.920000	0.55202	9.150000	0.94667	2.720000	0.93068	0.555000	0.69702	TCA	TNPO2	-	superfamily_ARM-type_fold		0.587	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	G	NM_013433		12826312	-1	no_errors	ENST00000425528	ensembl	human	known	70_37	nonsense	SNP	0.973	C
TOR2A	27433	genome.wustl.edu	37	9	130496650	130496650	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:130496650G>C	ENST00000373284.5	-	2	391	c.345C>G	c.(343-345)ctC>ctG	p.L115L	TOR2A_ENST00000336067.6_Silent_p.L115L|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373281.5_Silent_p.L115L	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	115					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						GGGGGCTGCGGAGGCCGCCCT	0.662											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35.0	39.0	37.0					9																	130496650		2203	4299	6502	SO:0001819	synonymous_variant	27433			AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.345C>G	9.37:g.130496650G>C		1580	A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Silent	SNP	pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr,prints_Chaprnin_ClpA/B	p.L115	ENST00000373284.5	37	c.345	CCDS43879.1	9																																																																																			TOR2A	-	pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr		0.662	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR2A	HGNC	protein_coding	OTTHUMT00000054205.1	G	NM_130459		130496650	-1	no_errors	ENST00000373284	ensembl	human	known	70_37	silent	SNP	0.996	C
TPR	7175	genome.wustl.edu	37	1	186296657	186296657	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:186296657C>A	ENST00000367478.4	-	40	6120	c.5824G>T	c.(5824-5826)Gat>Tat	p.D1942Y		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1942					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACAATGACATCATCTCCTTTG	0.388			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													139.0	140.0	140.0					1																	186296657		2050	4198	6248	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5824G>T	1.37:g.186296657C>A	ENSP00000356448:p.Asp1942Tyr		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.D1942Y	ENST00000367478.4	37	c.5824	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015173	0.75161	.	.	ENSG00000047410	ENST00000367478	T	0.27890	1.64	5.26	5.26	0.73747	.	0.099666	0.64402	D	0.000002	T	0.53965	0.1829	M	0.61703	1.905	0.54753	D	0.999986	D	0.76494	0.999	D	0.77557	0.99	T	0.55698	-0.8100	10	0.66056	D	0.02	.	17.0596	0.86543	0.0:1.0:0.0:0.0	.	1942	P12270	TPR_HUMAN	Y	1942	ENSP00000356448:D1942Y	ENSP00000356448:D1942Y	D	-	1	0	TPR	184563280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.929000	0.63455	2.451000	0.82905	0.650000	0.86243	GAT	TPR	-	NULL		0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186296657	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	A
TRAPPC10	7109	genome.wustl.edu	37	21	45472274	45472274	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr21:45472274G>C	ENST00000291574.4	+	4	574	c.399G>C	c.(397-399)aaG>aaC	p.K133N	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.K133N	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	133					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACA	0.358																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.399G>C	21.37:g.45472274G>C	ENSP00000291574:p.Lys133Asn		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.K133N	ENST00000291574.4	37	c.399	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833853	0.71258	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.31247	1.5;1.5	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	L	0.57536	1.79	0.80722	D	1	D;P	0.60575	0.988;0.952	D;P	0.63192	0.912;0.6	T	0.42515	-0.9447	10	0.36615	T	0.2	.	18.3812	0.90452	0.0:0.0:1.0:0.0	.	133;133	P48553;Q86SI7	TPC10_HUMAN;.	N	133	ENSP00000369570:K133N;ENSP00000291574:K133N	ENSP00000291574:K133N	K	+	3	2	TRAPPC10	44296702	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.559000	0.60796	2.401000	0.81631	0.591000	0.81541	AAG	TRAPPC10	-	NULL		0.358	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	G	NM_003274		45472274	+1	no_errors	ENST00000291574	ensembl	human	known	70_37	missense	SNP	1.000	C
TRHDE	29953	genome.wustl.edu	37	12	72665811	72665811	+	5'Flank	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:72665811C>T	ENST00000261180.4	+	0	0				TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme						cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCTGCTGGTTCACTCTAGTCT	0.632																																																	0													8.0	13.0	11.0					12																	72665811		689	1586	2275	SO:0001631	upstream_gene_variant	283392			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6			12.37:g.72665811C>T	Exception_encountered		A5PL19|Q6UWJ4	RNA	SNP	-	NULL	ENST00000261180.4	37	NULL	CCDS9004.1	12																																																																																			TRHDE-AS1	-	-		0.632	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE-AS1	HGNC	protein_coding	OTTHUMT00000405380.1	C	NM_013381		72665811	-1	no_errors	ENST00000426250	ensembl	human	known	70_37	rna	SNP	0.002	T
TRIM23	373	genome.wustl.edu	37	5	64890377	64890377	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:64890377C>A	ENST00000231524.9	-	10	1887	c.1516G>T	c.(1516-1518)Gct>Tct	p.A506S	TRIM23_ENST00000274327.7_Missense_Mutation_p.A506S|TRIM23_ENST00000381018.3_Missense_Mutation_p.A506S	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	506	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AGGAGCAGAGCATCTCGGAGT	0.358																																																	0													132.0	131.0	131.0					5																	64890377		2202	4300	6502	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1516G>T	5.37:g.64890377C>A	ENSP00000231524:p.Ala506Ser		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom	p.A506S	ENST00000231524.9	37	c.1516	CCDS3987.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.202753	0.94997	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.67523	-0.27;-0.27;-0.27	5.64	5.64	0.86602	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	L	0.49455	1.56	0.80722	D	1	D;D;B	0.69078	0.981;0.997;0.001	D;D;B	0.80764	0.994;0.967;0.044	T	0.80091	-0.1527	10	0.72032	D	0.01	.	19.6986	0.96043	0.0:1.0:0.0:0.0	.	506;506;506	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	S	506	ENSP00000231524:A506S;ENSP00000370406:A506S;ENSP00000274327:A506S	ENSP00000231524:A506S	A	-	1	0	TRIM23	64926133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.645000	0.89757	0.591000	0.81541	GCT	TRIM23	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.358	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	HGNC	protein_coding	OTTHUMT00000215058.2	C	NM_001656		64890377	-1	no_errors	ENST00000231524	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM43	129868	genome.wustl.edu	37	2	96265243	96265243	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:96265243G>A	ENST00000272395.2	+	7	1399	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	421	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATGTCACCAAGAGTTCCCTCA	0.448																																																	0													1.0	1.0	1.0					2																	96265243		531	1255	1786	SO:0001819	synonymous_variant	129868			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.1263G>A	2.37:g.96265243G>A			Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K421	ENST00000272395.2	37	c.1263	CCDS2015.1	2																																																																																			TRIM43	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.448	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	G	NM_138800		96265243	+1	no_errors	ENST00000272395	ensembl	human	known	70_37	silent	SNP	0.000	A
TRIM34	53840	genome.wustl.edu	37	11	5655906	5655906	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:5655906C>A	ENST00000514226.1	+	4	902	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.Q189K|TRIM34_ENST00000429814.2_Missense_Mutation_p.Q189K|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.Q543K	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	189					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATTTGATCAGCTTAGAAG	0.418																																																	0													67.0	62.0	64.0					11																	5655906		2201	4297	6498	SO:0001583	missense	445372			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.565C>A	11.37:g.5655906C>A	ENSP00000422947:p.Gln189Lys		D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q543K	ENST00000514226.1	37	c.1627	CCDS31391.1	11	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150086	0.21371	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	3.78	1.89	0.25635	.	1.275020	0.05972	N	0.642659	T	0.02418	0.0074	L	0.31371	0.925	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.15052	0.012;0.002;0.004	T	0.49000	-0.8984	10	0.08381	T	0.77	.	4.5577	0.12145	0.2179:0.6676:0.0:0.1145	.	189;189;543	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	K	543;189;189;189;543	ENSP00000422947:Q189K;ENSP00000402595:Q189K;ENSP00000395982:Q189K;ENSP00000346916:Q543K	ENSP00000402595:Q189K	Q	+	1	0	TRIM34;TRIM6-TRIM34	5612482	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	-0.026000	0.12392	0.565000	0.29255	0.655000	0.94253	CAG	TRIM6-TRIM34	-	NULL		0.418	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	C	NM_001003827		5655906	+1	no_errors	ENST00000354852	ensembl	human	known	70_37	missense	SNP	0.010	A
TRIM63	84676	genome.wustl.edu	37	1	26394022	26394022	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:26394022C>G	ENST00000374272.3	-	0	102				TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase						cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCTGCCTCCTCTACTAAC	0.522																																																	0													47.0	43.0	44.0					1																	26394022		2203	4300	6503	SO:0001623	5_prime_UTR_variant	84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.-37G>C	1.37:g.26394022C>G			B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	RNA	SNP	-	NULL	ENST00000374272.3	37	NULL	CCDS273.1	1																																																																																			TRIM63	-	-		0.522	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM63	HGNC	protein_coding	OTTHUMT00000019750.1	C	NM_032588		26394022	-1	no_errors	ENST00000483052	ensembl	human	known	70_37	rna	SNP	0.000	G
TROVE2	6738	genome.wustl.edu	37	1	193053855	193053855	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:193053855G>C	ENST00000367446.3	+	9	1821	c.1611G>C	c.(1609-1611)atG>atC	p.M537I	TROVE2_ENST00000432079.1_Missense_Mutation_p.M262I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000416058.2_Missense_Mutation_p.M262I|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.M537I|TROVE2_ENST00000400968.2_Missense_Mutation_p.M537I|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367445.3_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	537	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CATTAGATATGATTTAACCAT	0.418																																																	0													147.0	135.0	139.0					1																	193053855		1908	4135	6043	SO:0001583	missense	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1611G>C	1.37:g.193053855G>C	ENSP00000356416:p.Met537Ile		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	pfam_TROVE,pfscan_TROVE	p.M537I	ENST00000367446.3	37	c.1611	CCDS1379.1	1	.	.	.	.	.	.	.	.	.	.	G	0.610	-0.825534	0.02734	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367441	.	.	.	5.22	3.31	0.37934	.	0.399466	0.24657	N	0.036674	T	0.13841	0.0335	N	0.02011	-0.69	0.24560	N	0.993975	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	9	0.30854	T	0.27	-1.2947	8.9964	0.36055	0.0764:0.2922:0.6314:0.0	.	537	P10155	RO60_HUMAN	I	537;262;537;537	.	ENSP00000356411:M537I	M	+	3	0	TROVE2	191320478	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.141000	0.31528	0.542000	0.28846	0.460000	0.39030	ATG	TROVE2	-	NULL		0.418	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	G	NM_004600		193053855	+1	no_errors	ENST00000367441	ensembl	human	known	70_37	missense	SNP	1.000	C
TRPM1	4308	genome.wustl.edu	37	15	31324907	31324907	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:31324907C>T	ENST00000256552.6	-	22	3084	c.2937G>A	c.(2935-2937)atG>atA	p.M979I	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.M957I|TRPM1_ENST00000542188.1_Missense_Mutation_p.M996I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.M957I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAATCATCATCACGTATG	0.488																																																	1	Substitution - Missense(1)	breast(1)											112.0	106.0	108.0					15																	31324907		1988	4181	6169	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2937G>A	15.37:g.31324907C>T	ENSP00000256552:p.Met979Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.M996I	ENST00000256552.6	37	c.2988	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776123	0.90195	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74947	-0.89;-0.89;-0.89	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	N	0.10837	0.055	0.58432	D	0.999999	P;B	0.41929	0.765;0.27	B;B	0.40825	0.341;0.18	T	0.70680	-0.4805	10	0.87932	D	0	-41.7833	19.6018	0.95566	0.0:1.0:0.0:0.0	.	951;957	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	957;996;979;957	ENSP00000380897:M957I;ENSP00000437849:M996I;ENSP00000256552:M979I	ENSP00000256552:M979I	M	-	3	0	TRPM1	29112199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.704000	0.92352	0.643000	0.83706	ATG	TRPM1	-	pfam_Ion_trans_dom		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31324907	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPM1	4308	genome.wustl.edu	37	15	31362146	31362146	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:31362146G>A	ENST00000559179.1	-	3	434	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000542188.1_Intron	NM_001252030.1	NP_001238959.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATGAAGAAGACCAGGTATC	0.468																																																	0																																										SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000559179.1:c.301C>T	15.37:g.31362146G>A	ENSP00000453851:p.Leu101Phe			Missense_Mutation	SNP	NULL	p.L101F	ENST00000559179.1	37	c.301	CCDS58345.1	15																																																																																			TRPM1	-	NULL		0.468	TRPM1-003	PUTATIVE	basic|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417168.1	G	NM_002420		31362146	-1	no_errors	ENST00000559179	ensembl	human	putative	70_37	missense	SNP	0.027	A
TRPV4	59341	genome.wustl.edu	37	12	110226262	110226262	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:110226262G>A	ENST00000418703.2	-	12	2245	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	TRPV4_ENST00000536838.1_Silent_p.L683L|TRPV4_ENST00000541794.1_Silent_p.L670L|TRPV4_ENST00000261740.2_Silent_p.L717L|TRPV4_ENST00000544971.1_Silent_p.L610L|TRPV4_ENST00000346520.2_Silent_p.L657L|TRPV4_ENST00000392719.2_Silent_p.L670L|TRPV4_ENST00000537083.1_Silent_p.L657L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	717					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCTCGCCCATGAGGGCAATGA	0.597																																																	0													106.0	84.0	91.0					12																	110226262		2203	4300	6503	SO:0001819	synonymous_variant	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2151C>T	12.37:g.110226262G>A			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.L717	ENST00000418703.2	37	c.2151	CCDS9134.1	12																																																																																			TRPV4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110226262	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	silent	SNP	1.000	A
TRRAP	8295	genome.wustl.edu	37	7	98589764	98589764	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:98589764G>C	ENST00000359863.4	+	64	9982	c.9773G>C	c.(9772-9774)gGa>gCa	p.G3258A	TRRAP_ENST00000446306.3_Missense_Mutation_p.G3229A|TRRAP_ENST00000355540.3_Missense_Mutation_p.G3229A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3258	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCAGGTTGGACGCGTGTAT	0.483																																																	0													204.0	194.0	197.0					7																	98589764		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9773G>C	7.37:g.98589764G>C	ENSP00000352925:p.Gly3258Ala		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G3258A	ENST00000359863.4	37	c.9773	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.835644|4.835644	0.91117|0.91117	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.01998	.|4.51;4.51	5.82|5.82	5.82|5.82	0.92795|0.92795	.|PIK-related kinase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.03348|0.03348	0.0097|0.0097	N|N	0.17872|0.17872	0.535|0.535	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.62365	.|0.886;0.982;0.991	.|P;P;P	.|0.51415	.|0.54;0.52;0.669	T|T	0.55418|0.55418	-0.8144|-0.8144	5|10	.|0.05620	.|T	.|0.96	.|.	20.1054|20.1054	0.97890|0.97890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3229;2968;3258	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	H|A	2969|3258;3229;3228	.|ENSP00000352925:G3258A;ENSP00000347733:G3229A	.|ENSP00000347733:G3229A	D|G	+|+	1|2	0|0	TRRAP|TRRAP	98427700|98427700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.869000|9.869000	0.99810|0.99810	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	GAC|GGA	TRRAP	-	pfscan_PIK_FAT		0.483	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98589764	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	C
TSC2	7249	genome.wustl.edu	37	16	2098751	2098751	+	Silent	SNP	G	G	A	rs137854117|rs137854360		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:2098751G>A	ENST00000219476.3	+	2	765	c.135G>A	c.(133-135)ctG>ctA	p.L45L	TSC2_ENST00000401874.2_Silent_p.L45L|NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000353929.4_Silent_p.L45L|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Silent_p.L56L|TSC2_ENST00000439673.2_Silent_p.L45L|TSC2_ENST00000350773.4_Silent_p.L45L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	45	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGAAATACTGAGAGTGAGTG	0.522			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													162.0	133.0	142.0					16																	2098751		2198	4299	6497	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.135G>A	16.37:g.2098751G>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L45	ENST00000219476.3	37	c.135	CCDS10458.1	16																																																																																			TSC2	-	superfamily_ARM-type_fold		0.522	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2098751	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	A
TSPAN2	10100	genome.wustl.edu	37	1	115601508	115601508	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:115601508G>A	ENST00000369516.2	-	5	471	c.440C>T	c.(439-441)tCa>tTa	p.S147L	TSPAN2_ENST00000369515.2_Missense_Mutation_p.S122L|TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369514.2_Missense_Mutation_p.S147L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	147				HST -> PLQH (in Ref. 1; AAC69715). {ECO:0000305}.	astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACTCACTGTTGAGTGGAAGGT	0.393																																																	0													239.0	217.0	225.0					1																	115601508		2203	4300	6503	SO:0001583	missense	10100			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.440C>T	1.37:g.115601508G>A	ENSP00000358529:p.Ser147Leu		D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.S147L	ENST00000369516.2	37	c.440	CCDS881.1	1	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222248	0.09863	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.8	5.8	0.92144	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.471649	0.23887	N	0.043594	T	0.60274	0.2256	L	0.34521	1.04	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.57201	-0.7852	10	0.32370	T	0.25	.	12.528	0.56098	0.0:0.0:0.8337:0.1663	.	147	O60636	TSN2_HUMAN	L	147;122;141;147	ENSP00000358529:S147L;ENSP00000358528:S122L;ENSP00000415256:S141L;ENSP00000358527:S147L	ENSP00000358527:S147L	S	-	2	0	TSPAN2	115403031	0.991000	0.36638	0.986000	0.45419	0.400000	0.30750	2.044000	0.41241	2.755000	0.94549	0.655000	0.94253	TCA	TSPAN2	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.393	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN2	HGNC	protein_coding	OTTHUMT00000032828.1	G	NM_005725		115601508	-1	no_errors	ENST00000369516	ensembl	human	known	70_37	missense	SNP	0.956	A
TST	7263	genome.wustl.edu	37	22	37407280	37407280	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:37407280C>T	ENST00000403892.3	-	2	1416	c.682G>A	c.(682-684)Gag>Aag	p.E228K	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.E228K	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	228	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.		E -> G (in dbSNP:rs1049270).		cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACGGAGCTCTTCTGGGCCC	0.612																																																	0													51.0	40.0	44.0					22																	37407280		2203	4300	6503	SO:0001583	missense	7263			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.682G>A	22.37:g.37407280C>T	ENSP00000385828:p.Glu228Lys		B3KRM1|Q6IB06	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E228K	ENST00000403892.3	37	c.682	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259737	0.59321	.	.	ENSG00000128311	ENST00000403892;ENST00000249042	T;T	0.48836	0.8;0.8	5.08	4.0	0.46444	Rhodanese-like (5);	0.353979	0.30940	N	0.008566	T	0.47985	0.1475	M	0.70842	2.15	0.58432	D	0.999996	B	0.09022	0.002	B	0.20384	0.029	T	0.48186	-0.9057	10	0.46703	T	0.11	-23.9309	12.4419	0.55629	0.0:0.9126:0.0:0.0874	.	228	Q16762	THTR_HUMAN	K	228	ENSP00000385828:E228K;ENSP00000249042:E228K	ENSP00000249042:E228K	E	-	1	0	TST	35737226	0.990000	0.36364	1.000000	0.80357	0.664000	0.39144	1.395000	0.34520	1.233000	0.43693	0.655000	0.94253	GAG	TST	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.612	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	HGNC	protein_coding	OTTHUMT00000318790.1	C			37407280	-1	no_errors	ENST00000249042	ensembl	human	known	70_37	missense	SNP	1.000	T
TSTA3	7264	genome.wustl.edu	37	8	144696865	144696865	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:144696865G>A	ENST00000425753.2	-	5	496	c.393C>T	c.(391-393)atC>atT	p.I131I	TSTA3_ENST00000529064.1_Silent_p.I131I	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	131					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCATTGTGGATCTGCGGGC	0.657																																																	0													118.0	104.0	109.0					8																	144696865		2203	4300	6503	SO:0001819	synonymous_variant	7264			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.393C>T	8.37:g.144696865G>A			B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.I131	ENST00000425753.2	37	c.393	CCDS6408.1	8																																																																																			TSTA3	-	pfam_Epimerase_deHydtase		0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	HGNC	protein_coding	OTTHUMT00000382263.1	G	NM_003313		144696865	-1	no_errors	ENST00000425753	ensembl	human	known	70_37	silent	SNP	1.000	A
TTC21A	199223	genome.wustl.edu	37	3	39170291	39170291	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:39170291G>A	ENST00000431162.2	+	14	1919	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	TTC21A_ENST00000301819.6_Silent_p.L596L|TTC21A_ENST00000440121.1_Silent_p.L547L			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	595										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAAAGACGCTGAAAATGGTCA	0.542																																																	0													115.0	115.0	115.0					3																	39170291		1940	4142	6082	SO:0001819	synonymous_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1785G>A	3.37:g.39170291G>A			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L596	ENST00000431162.2	37	c.1788	CCDS46800.1	3																																																																																			TTC21A	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.542	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755		39170291	+1	no_errors	ENST00000301819	ensembl	human	known	70_37	silent	SNP	1.000	A
TTC39B	158219	genome.wustl.edu	37	9	15307104	15307104	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:15307104C>G	ENST00000512701.2	-	1	254	c.218G>C	c.(217-219)cGa>cCa	p.R73P	TTC39B_ENST00000380850.4_Missense_Mutation_p.R73P|TTC39B_ENST00000541445.1_Missense_Mutation_p.R7P|TTC39B_ENST00000355694.2_Missense_Mutation_p.R7P|TTC39B_ENST00000297615.5_Missense_Mutation_p.R73P			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	73										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAGCTCCGCTCGGCTGCCTAA	0.647																																																	0													29.0	24.0	26.0					9																	15307104		2202	4299	6501	SO:0001583	missense	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.218G>C	9.37:g.15307104C>G	ENSP00000422496:p.Arg73Pro		A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.R73P	ENST00000512701.2	37	c.218	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745716	0.49151	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000541445;ENST00000506891	T;T;T;T;T	0.51325	1.35;0.73;1.41;1.35;0.71	4.18	3.28	0.37604	.	.	.	.	.	T	0.32224	0.0822	L	0.29908	0.895	0.27661	N	0.947089	B;B;B;B;B	0.31680	0.254;0.165;0.335;0.165;0.165	B;B;B;B;B	0.29663	0.045;0.033;0.105;0.033;0.033	T	0.14811	-1.0459	9	0.30854	T	0.27	-1.4602	7.827	0.29322	0.0:0.8842:0.0:0.1158	.	73;73;73;7;7	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	P	73;73;7;73;7;35	ENSP00000370231:R73P;ENSP00000297615:R73P;ENSP00000347920:R7P;ENSP00000422496:R73P;ENSP00000442880:R7P	ENSP00000297615:R73P	R	-	2	0	TTC39B	15297104	0.997000	0.39634	0.991000	0.47740	0.861000	0.49209	1.233000	0.32648	1.106000	0.41623	0.313000	0.20887	CGA	TTC39B	-	NULL		0.647	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	C	NM_152574		15307104	-1	no_errors	ENST00000512701	ensembl	human	known	70_37	missense	SNP	0.998	G
TTC8	123016	genome.wustl.edu	37	14	89343652	89343652	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:89343652G>C	ENST00000345383.5	+	14	1500	c.1416G>C	c.(1414-1416)caG>caC	p.Q472H	TTC8_ENST00000346301.4_Missense_Mutation_p.Q442H|TTC8_ENST00000380656.2_Missense_Mutation_p.Q482H|TTC8_ENST00000338104.6_Missense_Mutation_p.Q498H|TTC8_ENST00000354441.6_Missense_Mutation_p.Q217H|TTC8_ENST00000358622.5_Missense_Mutation_p.Q284H|TTC8_ENST00000536576.1_Missense_Mutation_p.Q243H	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	508					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAGATCTGCAGAGAAGCTATG	0.358																																																	0													60.0	54.0	56.0					14																	89343652		2203	4300	6503	SO:0001583	missense	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1416G>C	14.37:g.89343652G>C	ENSP00000339486:p.Gln472His		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q498H	ENST00000345383.5	37	c.1494	CCDS9885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.441807|2.441807	0.43326|0.43326	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.53640|.	0.71;0.61;0.71;0.71;0.61;0.71;0.71|.	5.4|5.4	4.51|4.51	0.55191|0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61123|0.61123	0.2322|0.2322	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999996|0.999996	B;B;D;B;B|.	0.67145|.	0.074;0.021;0.996;0.036;0.016|.	B;B;D;B;B|.	0.75484|.	0.034;0.019;0.986;0.043;0.029|.	T|T	0.58696|0.58696	-0.7591|-0.7591	10|5	0.41790|.	T|.	0.15|.	-12.8935|-12.8935	14.5743|14.5743	0.68235|0.68235	0.0708:0.0:0.9292:0.0|0.0708:0.0:0.9292:0.0	.|.	217;243;508;452;482|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	H|T	472;243;442;498;217;482;284|404	ENSP00000339486:Q472H;ENSP00000445067:Q243H;ENSP00000298324:Q442H;ENSP00000337653:Q498H;ENSP00000346427:Q217H;ENSP00000370031:Q482H;ENSP00000351439:Q284H|.	ENSP00000337653:Q498H|.	Q|R	+|+	3|2	2|0	TTC8|TTC8	88413405|88413405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	5.999000|5.999000	0.70665|0.70665	1.416000|1.416000	0.47057|0.47057	0.460000|0.460000	0.39030|0.39030	CAG|AGA	TTC8	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.358	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410861.1	G	NM_144596		89343652	+1	no_errors	ENST00000338104	ensembl	human	known	70_37	missense	SNP	1.000	C
TTC7B	145567	genome.wustl.edu	37	14	91119233	91119233	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:91119233C>T	ENST00000328459.6	-	13	1590	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	TTC7B_ENST00000357056.2_Missense_Mutation_p.R490Q	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	490										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTGCATCCCTCGCAAAGAAGC	0.443																																																	0													142.0	139.0	140.0					14																	91119233		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1469G>A	14.37:g.91119233C>T	ENSP00000336127:p.Arg490Gln		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R490Q	ENST00000328459.6	37	c.1469	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180664	0.78677	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.77750	-1.12;-1.12	5.22	5.22	0.72569	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.072799	0.56097	D	0.000022	D	0.84511	0.5488	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.79926	-0.1597	10	0.14656	T	0.56	-0.356	18.7957	0.91993	0.0:1.0:0.0:0.0	.	490	Q86TV6	TTC7B_HUMAN	Q	388;490;490;232	ENSP00000349564:R490Q;ENSP00000336127:R490Q	ENSP00000336127:R490Q	R	-	2	0	TTC7B	90188986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.562000	0.82300	2.435000	0.82474	0.655000	0.94253	CGA	TTC7B	-	pfscan_TPR-contain_dom		0.443	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	C			91119233	-1	no_errors	ENST00000357056	ensembl	human	known	70_37	missense	SNP	1.000	T
TTLL6	284076	genome.wustl.edu	37	17	46863559	46863559	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:46863559C>T	ENST00000393382.3	-	12	1869	c.1728G>A	c.(1726-1728)caG>caA	p.Q576Q	TTLL6_ENST00000433608.2_Silent_p.Q269Q	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTGTCTTTCTGCTGTTGTT	0.567																																																	0													383.0	359.0	367.0					17																	46863559		2203	4300	6503	SO:0001819	synonymous_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1728G>A	17.37:g.46863559C>T				Silent	SNP	pfam_Tub_tyr_ligase	p.Q576	ENST00000393382.3	37	c.1728	CCDS45724.1	17																																																																																			TTLL6	-	NULL		0.567	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	C	NM_173623		46863559	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	silent	SNP	0.010	T
TTLL7	79739	genome.wustl.edu	37	1	84412895	84412895	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:84412895G>C	ENST00000260505.8	-	6	795	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	140	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTTGGAATTGAGTATATTCA	0.358																																																	0													90.0	92.0	91.0					1																	84412895		2203	4300	6503	SO:0001583	missense	79739			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.418C>G	1.37:g.84412895G>C	ENSP00000260505:p.Gln140Glu		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q140E	ENST00000260505.8	37	c.418	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935301	0.52866	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.05447	3.44	5.57	5.57	0.84162	.	0.053759	0.85682	D	0.000000	T	0.01835	0.0058	N	0.11427	0.14	0.80722	D	1	P	0.35872	0.525	B	0.34590	0.186	T	0.57027	-0.7881	10	0.13108	T	0.6	.	19.5413	0.95275	0.0:0.0:1.0:0.0	.	140	Q6ZT98	TTLL7_HUMAN	E	140	ENSP00000260505:Q140E	ENSP00000260505:Q140E	Q	-	1	0	TTLL7	84185483	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.394000	0.97261	2.620000	0.88729	0.650000	0.86243	CAA	TTLL7	-	pfam_Tub_tyr_ligase		0.358	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	G	NM_024686		84412895	-1	no_errors	ENST00000260505	ensembl	human	known	70_37	missense	SNP	1.000	C
TTLL8	164714	genome.wustl.edu	37	22	50468941	50468941	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:50468941C>G	ENST00000266182.6	-	12	2120	c.2121G>C	c.(2119-2121)caG>caC	p.Q707H	TTLL8_ENST00000440475.1_Missense_Mutation_p.Q687H			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	723					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCGCATTTAGCTGGTTTGGAT	0.692																																																	0													28.0	32.0	30.0					22																	50468941		1964	4143	6107	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.2121G>C	22.37:g.50468941C>G	ENSP00000266182:p.Gln707His		B5MDV0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q707H	ENST00000266182.6	37	c.2121		22	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169866	0.38315	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.04406	3.63;3.73;3.73	4.11	-4.28	0.03732	.	11.864300	0.00166	N	0.000000	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	P	0.39060	0.657	B	0.31614	0.133	T	0.32587	-0.9901	10	0.42905	T	0.14	.	6.244	0.20807	0.1539:0.5283:0.0:0.3178	.	707	B5MDV0	.	H	707;687;723	ENSP00000266182:Q707H;ENSP00000387509:Q687H;ENSP00000392252:Q723H	ENSP00000266182:Q707H	Q	-	3	2	TTLL8	48811068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.311000	0.01128	-1.326000	0.02266	-1.115000	0.02055	CAG	TTLL8	-	NULL		0.692	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	HGNC	protein_coding		C	NM_001080447		50468941	-1	no_errors	ENST00000266182	ensembl	human	known	70_37	missense	SNP	0.000	G
TTN	7273	genome.wustl.edu	37	2	179395364	179395364	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179395364C>G	ENST00000591111.1	-	308	101279	c.101055G>C	c.(101053-101055)ctG>ctC	p.L33685L	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000589042.1_Silent_p.L35326L|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.L32758L|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L26453L|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Silent_p.L26386L|TTN_ENST00000460472.2_Silent_p.L26261L|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33685	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTCCTTCAGTTTCTTGC	0.393																																																	0													111.0	100.0	104.0					2																	179395364		1867	4110	5977	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101055G>C	2.37:g.179395364C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L32758	ENST00000591111.1	37	c.98274		2																																																																																			TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179395364	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179463947	179463947	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179463947C>A	ENST00000591111.1	-	240	51874	c.51650G>T	c.(51649-51651)cGa>cTa	p.R17217L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18858L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16290L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9985L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9918L|TTN_ENST00000460472.2_Missense_Mutation_p.R9793L|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17217	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R9793L(1)|p.R9985L(1)|p.R16288L(1)|p.R16290L(1)|p.R9918L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCATGATTCGGAATACATA	0.433																																																	5	Substitution - Missense(5)	lung(5)											225.0	217.0	219.0					2																	179463947		1891	4106	5997	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51650G>T	2.37:g.179463947C>A	ENSP00000465570:p.Arg17217Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R16290L	ENST00000591111.1	37	c.48869		2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814627	0.50527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.98	5.11	0.69529	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78007	0.4216	M	0.91510	3.215	0.46654	D	0.999142	D;D;D;D	0.56521	0.976;0.976;0.976;0.976	P;P;P;P	0.57960	0.83;0.83;0.83;0.83	D	0.84034	0.0361	9	0.87932	D	0	.	15.367	0.74531	0.0:0.9331:0.0:0.0669	.	9793;9918;9985;17217	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16290;9793;9985;9918;9791	ENSP00000343764:R16290L;ENSP00000434586:R9793L;ENSP00000340554:R9985L;ENSP00000352154:R9918L	ENSP00000340554:R9985L	R	-	2	0	TTN	179172192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.079000	0.71291	1.543000	0.49345	0.650000	0.86243	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179463947	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179472971	179472971	+	Missense_Mutation	SNP	C	C	T	rs375589580		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179472971C>T	ENST00000591111.1	-	225	47940	c.47716G>A	c.(47716-47718)Gaa>Aaa	p.E15906K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17547K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14979K|TTN_ENST00000342175.6_Missense_Mutation_p.E8674K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8607K|TTN_ENST00000460472.2_Missense_Mutation_p.E8482K|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15906	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGCATTTTCAGCACATACT	0.428																																																	0													68.0	63.0	65.0					2																	179472971		1923	4134	6057	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47716G>A	2.37:g.179472971C>T	ENSP00000465570:p.Glu15906Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E14979K	ENST00000591111.1	37	c.44935		2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933144	0.52866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69967	0.3170	L	0.52759	1.655	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.70912	-0.4743	9	0.87932	D	0	.	19.8731	0.96858	0.0:1.0:0.0:0.0	.	8482;8607;8674;15906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14979;8482;8674;8607;8482	ENSP00000343764:E14979K;ENSP00000434586:E8482K;ENSP00000340554:E8674K;ENSP00000352154:E8607K	ENSP00000340554:E8674K	E	-	1	0	TTN	179181216	1.000000	0.71417	0.968000	0.41197	0.995000	0.86356	7.818000	0.86416	2.699000	0.92147	0.563000	0.77884	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179472971	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179476178	179476178	+	Silent	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179476178C>G	ENST00000591111.1	-	219	46079	c.45855G>C	c.(45853-45855)ctG>ctC	p.L15285L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.L16926L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L14358L|TTN_ENST00000342175.6_Silent_p.L8053L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.L7986L|TTN_ENST00000460472.2_Silent_p.L7861L|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15285	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L14358L(1)|p.L7861L(1)|p.L8053L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCACTCTCAGGACATATT	0.428																																																	3	Substitution - coding silent(3)	breast(3)											97.0	95.0	96.0					2																	179476178		2022	4188	6210	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45855G>C	2.37:g.179476178C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L14358	ENST00000591111.1	37	c.43074		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179476178	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179587434	179587434	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:179587434C>T	ENST00000591111.1	-	74	21465	c.21241G>A	c.(21241-21243)Gaa>Aaa	p.E7081K	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E7398K|TTN_ENST00000342992.6_Missense_Mutation_p.E6154K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12662	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTATTTTCTGCTTTGCAT	0.338																																																	0													43.0	44.0	44.0					2																	179587434		1855	4108	5963	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21241G>A	2.37:g.179587434C>T	ENSP00000465570:p.Glu7081Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E6154K	ENST00000591111.1	37	c.18460		2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837699	0.32513	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62962	0.2471	L	0.39020	1.185	0.80722	D	1	P	0.44281	0.831	B	0.40982	0.345	T	0.67098	-0.5756	9	0.87932	D	0	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	7081	Q8WZ42	TITIN_HUMAN	K	6154	ENSP00000343764:E6154K	ENSP00000343764:E6154K	E	-	1	0	TTN	179295679	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.942000	0.56614	2.821000	0.97095	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179587434	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTYH1	57348	genome.wustl.edu	37	19	54947898	54947898	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:54947898C>T	ENST00000376530.3	+	0	1884				AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_3'UTR|CTD-2587H19.3_ENST00000597355.1_lincRNA|TTYH1_ENST00000376531.3_3'UTR|AC008746.12_ENST00000599382.1_lincRNA|TTYH1_ENST00000489425.1_3'UTR|CTD-2587H19.2_ENST00000596631.1_RNA	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1						cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		ATTTTACAAGCAGCTGGGTCC	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.*428C>T	19.37:g.54947898C>T			B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	RNA	SNP	-	NULL	ENST00000376530.3	37	NULL	CCDS12893.1	19																																																																																			TTYH1	-	-		0.557	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	C			54947898	+1	no_errors	ENST00000489425	ensembl	human	known	70_37	rna	SNP	0.062	T
TUBA3E	112714	genome.wustl.edu	37	2	130949475	130949475	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:130949475G>A	ENST00000312988.7	-	5	1382	c.1282C>T	c.(1282-1284)Cta>Tta	p.L428L		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	428					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCCTTCTCTAGAGCTGCCAGG	0.587																																																	0													129.0	132.0	131.0					2																	130949475		2203	4300	6503	SO:0001819	synonymous_variant	112714			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1282C>T	2.37:g.130949475G>A				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.L428	ENST00000312988.7	37	c.1282	CCDS2158.1	2																																																																																			TUBA3E	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin		0.587	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	G	NM_207312		130949475	-1	no_errors	ENST00000312988	ensembl	human	known	70_37	silent	SNP	0.998	A
TUBB4B	10383	genome.wustl.edu	37	9	140137904	140137904	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:140137904G>A	ENST00000340384.4	+	4	1382	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	412					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	CACCGAGGCCGAGAGCAACAT	0.627																																																	0													102.0	98.0	99.0					9																	140137904		2203	4298	6501	SO:0001583	missense	10383			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1234G>A	9.37:g.140137904G>A	ENSP00000341289:p.Glu412Lys		A2BFA2|P05217	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.E412K	ENST00000340384.4	37	c.1234	CCDS7039.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094186	0.76870	.	.	ENSG00000188229	ENST00000340384	T	0.74842	-0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89509	0.3770	10	0.87932	D	0	.	18.1378	0.89627	0.0:0.0:1.0:0.0	.	412	P68371	TBB4B_HUMAN	K	412	ENSP00000341289:E412K	ENSP00000341289:E412K	E	+	1	0	TUBB2C	139257725	1.000000	0.71417	0.979000	0.43373	0.899000	0.52679	7.835000	0.86780	2.625000	0.88918	0.655000	0.94253	GAG	TUBB4B	-	superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin		0.627	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4B	HGNC	protein_coding	OTTHUMT00000254715.1	G	NM_006088		140137904	+1	no_errors	ENST00000340384	ensembl	human	known	70_37	missense	SNP	1.000	A
TUBBP1	92755	genome.wustl.edu	37	8	30209807	30209807	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:30209807C>T	ENST00000518096.1	+	0	419									tubulin, beta pseudogene 1																		TTTGGTCAGTCTGGGGCAGGT	0.542																																																	0																																												92755			J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209807C>T				RNA	SNP	-	NULL	ENST00000518096.1	37	NULL		8																																																																																			TUBBP1	-	-		0.542	TUBBP1-002	KNOWN	basic	processed_transcript	TUBBP1	HGNC	pseudogene	OTTHUMT00000375880.1	C	NG_001206		30209807	+1	no_errors	ENST00000518096	ensembl	human	known	70_37	rna	SNP	1.000	T
TUBBP5	643224	genome.wustl.edu	37	9	141069540	141069540	+	RNA	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:141069540G>C	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		GCGGGAACCAGATCGGGGCCA	0.687																																																	0																																												643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069540G>C				RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-		0.687	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	G	NR_027156		141069540	+1	no_errors	ENST00000290377	ensembl	human	known	70_37	rna	SNP	1.000	C
TUBGCP3	10426	genome.wustl.edu	37	13	113158448	113158448	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr13:113158448C>G	ENST00000261965.3	-	19	2391	c.2205G>C	c.(2203-2205)tgG>tgC	p.W735C	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.W735C	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	735					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GGACTTTGTTCCAAAGCTCAT	0.463																																																	0													123.0	109.0	114.0					13																	113158448		2203	4300	6503	SO:0001583	missense	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2205G>C	13.37:g.113158448C>G	ENSP00000261965:p.Trp735Cys		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.W735C	ENST00000261965.3	37	c.2205	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190106	0.38707	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.07216	3.21;3.21	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.34521	1.04	0.80722	D	1	D;B;D	0.61697	0.99;0.063;0.99	D;B;D	0.67231	0.95;0.02;0.95	T	0.01516	-1.1335	10	0.39692	T	0.17	-20.4219	18.4668	0.90758	0.0:1.0:0.0:0.0	.	725;735;735	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	C	735	ENSP00000261965:W735C;ENSP00000364821:W735C	ENSP00000261965:W735C	W	-	3	0	TUBGCP3	112206449	1.000000	0.71417	0.998000	0.56505	0.022000	0.10575	7.132000	0.77251	2.351000	0.79841	0.585000	0.79938	TGG	TUBGCP3	-	pfam_Spc97_Spc98		0.463	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	C	NM_006322		113158448	-1	no_errors	ENST00000261965	ensembl	human	known	70_37	missense	SNP	1.000	G
TWIST1	7291	genome.wustl.edu	37	7	19156432	19156432	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:19156432C>G	ENST00000242261.5	-	1	863	c.513G>C	c.(511-513)aaG>aaC	p.K171N	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	171	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						AGCTTGCCATCTTGGAGTCCA	0.617																																																	0													84.0	70.0	75.0					7																	19156432		2203	4300	6503	SO:0001583	missense	7291			U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"""Basic helix-loop-helix proteins"""	12428	protein-coding gene	gene with protein product	"""Saethre-Chotzen syndrome"""	601622	"""blepharophimosis, epicanthus inversus and ptosis 3"", ""acrocephalosyndactyly 3"", ""twist homolog 1 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 1"", ""craniosynostosis"""	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.513G>C	7.37:g.19156432C>G	ENSP00000242261:p.Lys171Asn		A4D128|Q92487|Q99804	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K171N	ENST00000242261.5	37	c.513	CCDS5367.1	7	.	.	.	.	.	.	.	.	.	.	c	10.69	1.420095	0.25552	.	.	ENSG00000122691	ENST00000242261	D	0.98362	-4.89	4.77	4.77	0.60923	Helix-loop-helix DNA-binding (1);	0.000000	0.50627	D	0.000108	D	0.96923	0.8995	M	0.76328	2.33	0.58432	D	0.999995	P	0.42785	0.79	B	0.39660	0.306	D	0.96336	0.9247	10	0.49607	T	0.09	-14.8155	11.0229	0.47728	0.0:0.9124:0.0:0.0876	.	171	Q15672	TWST1_HUMAN	N	171	ENSP00000242261:K171N	ENSP00000242261:K171N	K	-	3	2	TWIST1	19122957	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.846000	0.39289	2.194000	0.70268	0.455000	0.32223	AAG	TWIST1	-	superfamily_HLH_dom		0.617	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST1	HGNC	protein_coding	OTTHUMT00000207625.1	C	NM_000474		19156432	-1	no_errors	ENST00000242261	ensembl	human	known	70_37	missense	SNP	1.000	G
TYW5	129450	genome.wustl.edu	37	2	200808492	200808492	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:200808492G>C	ENST00000354611.4	-	3	564	c.299C>G	c.(298-300)tCa>tGa	p.S100*	TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	100					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						AATTACCTCTGAAACAAAGAA	0.323																																																	0													47.0	45.0	46.0					2																	200808492		1798	4063	5861	SO:0001587	stop_gained	129450			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 60"""	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.299C>G	2.37:g.200808492G>C	ENSP00000346627:p.Ser100*		B2RNE3|Q8N1R2	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S100*	ENST00000354611.4	37	c.299	CCDS42795.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.401619	0.97537	.	.	ENSG00000162971	ENST00000354611	.	.	.	5.57	5.57	0.84162	.	0.234941	0.27881	U	0.017477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.5403	0.95271	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000346627:S100X	S	-	2	0	TYW5	200516737	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.245000	0.72398	2.619000	0.88677	0.655000	0.94253	TCA	TYW5	-	NULL		0.323	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW5	HGNC	protein_coding	OTTHUMT00000256144.3	G	NM_001039693		200808492	-1	no_errors	ENST00000354611	ensembl	human	known	70_37	nonsense	SNP	1.000	C
UBE3A	7337	genome.wustl.edu	37	15	25616135	25616135	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:25616135C>G	ENST00000397954.2	-	4	1194	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	UBE3A_ENST00000566215.1_Missense_Mutation_p.E376Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.E376Q|UBE3A_ENST00000232165.3_Missense_Mutation_p.E396Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.E376Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	399	Asp/Glu-rich (acidic).				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGGATGGGCTCTTCATCATCT	0.463																																																	0													73.0	72.0	72.0					15																	25616135		2203	4299	6502	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1195G>C	15.37:g.25616135C>G	ENSP00000381045:p.Glu399Gln		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.E399Q	ENST00000397954.2	37	c.1195	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515193	0.44763	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	L	0.40543	1.245	0.80722	D	1	D;P	0.63880	0.993;0.457	P;B	0.60886	0.88;0.135	T	0.73824	-0.3861	10	0.20046	T	0.44	.	19.5696	0.95406	0.0:1.0:0.0:0.0	.	396;399	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	396;396;399;376;376	ENSP00000232165:E396Q;ENSP00000381045:E399Q;ENSP00000411258:E376Q;ENSP00000401265:E376Q	ENSP00000232165:E396Q	E	-	1	0	UBE3A	23167228	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.638000	0.89438	0.467000	0.42956	GAG	UBE3A	-	pirsf_Ubiquitin-protein_ligase_E6-AP		0.463	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	C	NM_000462		25616135	-1	no_errors	ENST00000397954	ensembl	human	known	70_37	missense	SNP	1.000	G
UBL4B	164153	genome.wustl.edu	37	1	110655268	110655268	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:110655268G>A	ENST00000334179.3	+	1	207	c.112G>A	c.(112-114)Gag>Aag	p.E38K	RP4-773N10.6_ENST00000554808.1_RNA	NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	38	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GAAGGTGCCTGAGGAGCAGCA	0.567																																																	0													91.0	87.0	88.0					1																	110655268		2203	4300	6503	SO:0001583	missense	164153				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.112G>A	1.37:g.110655268G>A	ENSP00000334044:p.Glu38Lys			Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E38K	ENST00000334179.3	37	c.112	CCDS820.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106560	0.77096	.	.	ENSG00000186150	ENST00000334179	T	0.72835	-0.69	4.6	4.6	0.57074	Ubiquitin supergroup (1);Ubiquitin (2);	0.147817	0.44483	D	0.000460	T	0.66607	0.2806	L	0.29908	0.895	0.33281	D	0.562225	D	0.71674	0.998	D	0.69307	0.963	T	0.67177	-0.5736	10	0.37606	T	0.19	-20.8935	14.4158	0.67148	0.0:0.0:1.0:0.0	.	38	Q8N7F7	UBL4B_HUMAN	K	38	ENSP00000334044:E38K	ENSP00000334044:E38K	E	+	1	0	UBL4B	110456791	0.997000	0.39634	0.869000	0.34112	0.792000	0.44763	4.426000	0.59882	2.366000	0.80165	0.655000	0.94253	GAG	UBL4B	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.567	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4B	HGNC	protein_coding	OTTHUMT00000392303.1	G	NM_203412		110655268	+1	no_errors	ENST00000334179	ensembl	human	known	70_37	missense	SNP	0.965	A
UBR5	51366	genome.wustl.edu	37	8	103297358	103297358	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:103297358C>T	ENST00000520539.1	-	40	6299	c.5693G>A	c.(5692-5694)aGa>aAa	p.R1898K	UBR5_ENST00000220959.4_Missense_Mutation_p.R1898K|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.R1892K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1898					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCATACCGTCTGCCTTCAAG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)												0													99.0	104.0	102.0					8																	103297358		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5693G>A	8.37:g.103297358C>T	ENSP00000429084:p.Arg1898Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R1898K	ENST00000520539.1	37	c.5693	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136883	0.77662	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45668	0.89;0.89;0.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	L	0.50333	1.59	0.58432	D	0.999995	P;P	0.44690	0.841;0.841	P;P	0.54210	0.745;0.745	T	0.48422	-0.9037	10	0.41790	T	0.15	.	19.5643	0.95386	0.0:1.0:0.0:0.0	.	1892;1898	E7EMW7;O95071	.;UBR5_HUMAN	K	1898;1898;1892	ENSP00000429084:R1898K;ENSP00000220959:R1898K;ENSP00000427819:R1892K	ENSP00000220959:R1898K	R	-	2	0	UBR5	103366534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.626000	0.83164	2.620000	0.88729	0.563000	0.77884	AGA	UBR5	-	NULL		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103297358	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T
UBXN2A	165324	genome.wustl.edu	37	2	24194275	24194275	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:24194275G>A	ENST00000309033.4	+	3	415	c.171G>A	c.(169-171)caG>caA	p.Q57Q	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Silent_p.Q57Q|UBXN2A_ENST00000535786.1_Silent_p.Q57Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	57					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						CCGCTGAACAGAAGAAACAGG	0.343																																																	0													105.0	111.0	109.0					2																	24194275		2203	4300	6503	SO:0001819	synonymous_variant	165324			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.171G>A	2.37:g.24194275G>A			A8K577|B7ZKP8|Q569G8	Silent	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.Q57	ENST00000309033.4	37	c.171	CCDS1704.1	2																																																																																			UBXN2A	-	superfamily_SEP_domain,smart_SEP_domain		0.343	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2A	HGNC	protein_coding	OTTHUMT00000246824.2	G	NM_181713		24194275	+1	no_errors	ENST00000309033	ensembl	human	known	70_37	silent	SNP	0.886	A
UBXN4	23190	genome.wustl.edu	37	2	136528140	136528140	+	Splice_Site	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:136528140G>C	ENST00000272638.9	+	8	968		c.e8-1		UBXN4_ENST00000490163.1_Splice_Site	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4						response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTTAATTCAGAGAGAAATTA	0.289																																																	0													29.0	27.0	28.0					2																	136528140		1783	4051	5834	SO:0001630	splice_region_variant	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.658-1G>C	2.37:g.136528140G>C			A8K9W4|Q4ZG56|Q8IYM5	Splice_Site	SNP	-	e8-1	ENST00000272638.9	37	c.658-1	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123261	0.77436	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4715	0.94965	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBXN4	136244610	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.858000	0.86971	2.606000	0.88127	0.585000	0.79938	.	UBXN4	-	-		0.289	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	G	NM_014607	Intron	136528140	+1	no_errors	ENST00000272638	ensembl	human	known	70_37	splice_site	SNP	1.000	C
UCMA	221044	genome.wustl.edu	37	10	13264126	13264126	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:13264126G>A	ENST00000378681.3	-	5	466	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	UCMA_ENST00000463405.2_Missense_Mutation_p.L110F	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	132					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CGGTTGTAGAGATAGGATGGG	0.582																																																	0													130.0	114.0	120.0					10																	13264126		2203	4300	6503	SO:0001583	missense	221044			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.394C>T	10.37:g.13264126G>A	ENSP00000367952:p.Leu132Phe			Missense_Mutation	SNP	NULL	p.L132F	ENST00000378681.3	37	c.394	CCDS31147.1	10	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689196	0.48097	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.224065	0.38217	N	0.001777	T	0.76018	0.3929	M	0.61703	1.905	0.37437	D	0.914275	D	0.89917	1.0	D	0.72625	0.978	T	0.80063	-0.1539	9	0.52906	T	0.07	-4.9674	15.5703	0.76330	0.0:0.0:1.0:0.0	.	132	Q8WVF2	UCMA_HUMAN	F	132	.	ENSP00000367952:L132F	L	-	1	0	UCMA	13304132	0.998000	0.40836	0.998000	0.56505	0.244000	0.25665	1.202000	0.32271	2.412000	0.81896	0.448000	0.29417	CTC	UCMA	-	NULL		0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCMA	HGNC	protein_coding	OTTHUMT00000046843.2	G	NM_145314		13264126	-1	no_errors	ENST00000378681	ensembl	human	known	70_37	missense	SNP	0.997	A
UGT2B15	7366	genome.wustl.edu	37	4	69535736	69535736	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:69535736C>G	ENST00000338206.5	-	1	610	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	201					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TCACTTAATTCTGACATAACA	0.353																																																	0													128.0	131.0	130.0					4																	69535736		2203	4294	6497	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.601G>C	4.37:g.69535736C>G	ENSP00000341045:p.Glu201Gln		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E201Q	ENST00000338206.5	37	c.601	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	5.181	0.218912	0.09810	.	.	ENSG00000196620	ENST00000338206	T	0.62364	0.03	2.79	2.79	0.32731	.	0.165190	0.38436	U	0.001691	T	0.57359	0.2048	L	0.50847	1.595	0.21933	N	0.999461	B	0.32245	0.361	B	0.39771	0.309	T	0.49163	-0.8968	10	0.25106	T	0.35	.	11.3195	0.49412	0.0:1.0:0.0:0.0	.	201	P54855	UDB15_HUMAN	Q	201	ENSP00000341045:E201Q	ENSP00000341045:E201Q	E	-	1	0	UGT2B15	69218331	0.000000	0.05858	0.813000	0.32504	0.583000	0.36354	0.345000	0.19979	1.536000	0.49237	0.442000	0.29010	GAA	UGT2B15	-	pfam_UDP_glucos_trans		0.353	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	C	NM_001076		69535736	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	1.000	G
ULK4P3	89837	genome.wustl.edu	37	15	30396069	30396069	+	RNA	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr15:30396069G>T	ENST00000568486.1	+	0	135					NR_026859.1				ULK4 pseudogene 3																		GCTCGGGACTGGCTCCTTTTC	0.692																																																	0																																												89837			BC023564		15q13.2	2014-03-20	2013-09-12	2011-11-25	ENSG00000178081	ENSG00000178081			15777	pseudogene	pseudogene			"""family with sequence similarity 7, member A3"", ""unc-51-like kinase 4 (C. elegans) pseudogene 3"""	FAM7A3		11829490	Standard	NR_026859		Approved	D-X	uc001zdk.3		OTTHUMG00000175637		15.37:g.30396069G>T				RNA	SNP	-	NULL	ENST00000568486.1	37	NULL		15																																																																																			ULK4P3	-	-		0.692	ULK4P3-002	PUTATIVE	basic	processed_transcript	ULK4P3	HGNC	pseudogene	OTTHUMT00000430688.1	G			30396069	+1	no_errors	ENST00000565158	ensembl	human	putative	70_37	rna	SNP	0.039	T
UPK1A	11045	genome.wustl.edu	37	19	36164145	36164145	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:36164145C>T	ENST00000222275.2	+	3	297	c.297C>T	c.(295-297)ctC>ctT	p.L99L	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.L99L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	99					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCTGGTGCTCATGCTCATCG	0.632																																																	0													114.0	91.0	99.0					19																	36164145		2203	4300	6503	SO:0001819	synonymous_variant	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.297C>T	19.37:g.36164145C>T			Q3KNU5|Q3KNU6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L99	ENST00000222275.2	37	c.297	CCDS12470.1	19																																																																																			UPK1A	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.632	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	C			36164145	+1	no_errors	ENST00000379013	ensembl	human	known	70_37	silent	SNP	0.987	T
UPK1A	11045	genome.wustl.edu	37	19	36164186	36164186	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:36164186C>T	ENST00000222275.2	+	3	338	c.338C>T	c.(337-339)aCg>aTg	p.T113M	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.T113M	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	113					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTGCATCACGTCCTACACC	0.697																																																	0													105.0	84.0	91.0					19																	36164186		2203	4300	6503	SO:0001583	missense	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.338C>T	19.37:g.36164186C>T	ENSP00000222275:p.Thr113Met		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T113M	ENST00000222275.2	37	c.338	CCDS12470.1	19	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923941	0.92319	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.78595	-1.19;-1.19	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	M	0.65498	2.005	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85825	0.1388	10	0.42905	T	0.14	-1.4302	16.88	0.86060	0.0:1.0:0.0:0.0	.	113;113	O00322-2;O00322	.;UPK1A_HUMAN	M	113	ENSP00000222275:T113M;ENSP00000368298:T113M	ENSP00000222275:T113M	T	+	2	0	UPK1A	40856026	0.997000	0.39634	0.995000	0.50966	0.993000	0.82548	3.944000	0.56629	2.659000	0.90383	0.655000	0.94253	ACG	UPK1A	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.697	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	C			36164186	+1	no_errors	ENST00000379013	ensembl	human	known	70_37	missense	SNP	0.998	T
URGCP	55665	genome.wustl.edu	37	7	43916610	43916610	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:43916610C>G	ENST00000453200.1	-	6	2945	c.2452G>C	c.(2452-2454)Gta>Cta	p.V818L	URGCP_ENST00000443736.1_Missense_Mutation_p.V775L|URGCP_ENST00000402306.3_Missense_Mutation_p.V809L|URGCP_ENST00000447717.3_Missense_Mutation_p.V775L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.V775L|URGCP_ENST00000223341.7_Missense_Mutation_p.V775L|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	818	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGGTATACAAACTGGTAG	0.522																																																	0													91.0	88.0	89.0					7																	43916610		1934	4136	6070	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2452G>C	7.37:g.43916610C>G	ENSP00000396918:p.Val818Leu		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.V818L	ENST00000453200.1	37	c.2452	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060914	0.55432	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.16743	2.35;2.35;2.33;2.35;2.32;2.35	5.62	5.62	0.85841	.	0.285829	0.33938	N	0.004413	T	0.32041	0.0816	L	0.58810	1.83	0.38690	D	0.952748	P;P	0.46784	0.884;0.884	P;P	0.52646	0.705;0.705	T	0.02214	-1.1194	10	0.51188	T	0.08	-29.0285	17.1276	0.86718	0.0:1.0:0.0:0.0	.	809;818	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	775;775;809;775;818;775	ENSP00000223341:V775L;ENSP00000336872:V775L;ENSP00000384955:V809L;ENSP00000392136:V775L;ENSP00000396918:V818L;ENSP00000402803:V775L	ENSP00000223341:V775L	V	-	1	0	URGCP	43883135	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.862000	0.56009	2.657000	0.90304	0.591000	0.81541	GTA	URGCP	-	NULL		0.522	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	C	NM_001077664		43916610	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	missense	SNP	1.000	G
URGCP	55665	genome.wustl.edu	37	7	43916794	43916794	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:43916794C>G	ENST00000453200.1	-	6	2761	c.2268G>C	c.(2266-2268)ttG>ttC	p.L756F	URGCP_ENST00000443736.1_Missense_Mutation_p.L713F|URGCP_ENST00000402306.3_Missense_Mutation_p.L747F|URGCP_ENST00000447717.3_Missense_Mutation_p.L713F|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.L713F|URGCP_ENST00000223341.7_Missense_Mutation_p.L713F|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	756	VLIG-type G.		L -> F (in dbSNP:rs2232107).		cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCACCTATCAAGCCCCCGG	0.597																																																	0													42.0	44.0	43.0					7																	43916794		2038	4209	6247	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2268G>C	7.37:g.43916794C>G	ENSP00000396918:p.Leu756Phe		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.L756F	ENST00000453200.1	37	c.2268	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450097	0.84101	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.51	4.62	0.57501	GTP1/OBG (1);	0.320352	0.24846	N	0.035138	T	0.75155	0.3811	M	0.72118	2.19	0.09310	N	1	D;D	0.58620	0.983;0.983	D;D	0.63597	0.916;0.916	T	0.68081	-0.5503	10	0.62326	D	0.03	-17.0678	12.4804	0.55839	0.0:0.9167:0.0:0.0833	.	747;756	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	F	713;713;747;713;756;713	ENSP00000223341:L713F;ENSP00000336872:L713F;ENSP00000384955:L747F;ENSP00000392136:L713F;ENSP00000396918:L756F;ENSP00000402803:L713F	ENSP00000223341:L713F	L	-	3	2	URGCP	43883319	0.984000	0.35163	0.054000	0.19295	0.969000	0.65631	0.703000	0.25646	1.294000	0.44707	0.591000	0.81541	TTG	URGCP	-	prints_GTP_binding_domain		0.597	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	C	NM_001077664		43916794	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	missense	SNP	0.075	G
USP18	11274	genome.wustl.edu	37	22	18640517	18640517	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr22:18640517G>C	ENST00000215794.7	+	2	517	c.87G>C	c.(85-87)aaG>aaC	p.K29N		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	29					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TTGAAGAAAAGAAGGAAGAAG	0.547											OREG0026287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													144.0	146.0	145.0					22																	18640517		2203	4300	6503	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.87G>C	22.37:g.18640517G>C	ENSP00000215794:p.Lys29Asn	727	Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.K29N	ENST00000215794.7	37	c.87	CCDS13752.1	22	.	.	.	.	.	.	.	.	.	.	.	11.26	1.587223	0.28268	.	.	ENSG00000184979	ENST00000215794	T	0.07444	3.19	4.1	0.473	0.16763	.	0.769234	0.11407	N	0.567209	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47289	-0.9129	10	0.16420	T	0.52	.	3.6355	0.08147	0.1863:0.0:0.6063:0.2074	.	29	Q9UMW8	UBP18_HUMAN	N	29	ENSP00000215794:K29N	ENSP00000215794:K29N	K	+	3	2	USP18	17020517	0.672000	0.27530	0.023000	0.16930	0.358000	0.29455	0.836000	0.27545	0.145000	0.18977	0.591000	0.81541	AAG	USP18	-	NULL		0.547	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP18	HGNC	protein_coding	OTTHUMT00000316368.1	G			18640517	+1	no_errors	ENST00000215794	ensembl	human	known	70_37	missense	SNP	0.032	C
USP28	57646	genome.wustl.edu	37	11	113711322	113711322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:113711322G>A	ENST00000003302.4	-	5	600	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	USP28_ENST00000545540.1_Nonsense_Mutation_p.Q53*|USP28_ENST00000537706.1_Nonsense_Mutation_p.Q178*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q178*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	178	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q178*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TATCATACCTGAATAACAGCA	0.353																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												1	Substitution - Nonsense(1)	lung(1)											108.0	98.0	102.0					11																	113711322		2201	4296	6497	SO:0001587	stop_gained	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.532C>T	11.37:g.113711322G>A	ENSP00000003302:p.Gln178*		B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.Q178*	ENST00000003302.4	37	c.532	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.582212	0.96578	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6283	15.1436	0.72630	0.0:0.0:1.0:0.0	.	.	.	.	X	178;178;53;178;106	.	ENSP00000003302:Q178X	Q	-	1	0	USP28	113216532	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.067000	0.93955	2.536000	0.85505	0.591000	0.81541	CAG	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.353	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	G			113711322	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	nonsense	SNP	1.000	A
USP32	84669	genome.wustl.edu	37	17	58260600	58260600	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:58260600G>A	ENST00000300896.4	-	31	4243	c.4049C>T	c.(4048-4050)tCg>tTg	p.S1350L	USP32_ENST00000592339.1_Missense_Mutation_p.S1020L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1350	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTCCCCAGCCGAACTCTGCGC	0.592																																																	0													74.0	69.0	71.0					17																	58260600		2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4049C>T	17.37:g.58260600G>A	ENSP00000300896:p.Ser1350Leu		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.S1350L	ENST00000300896.4	37	c.4049	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084713	0.36758	.	.	ENSG00000170832	ENST00000300896	T	0.45276	0.9	5.79	5.79	0.91817	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.795771	0.11989	N	0.509979	T	0.31231	0.0790	N	0.17082	0.46	0.80722	D	1	B	0.23591	0.088	B	0.16722	0.016	T	0.10636	-1.0621	10	0.18710	T	0.47	.	18.2173	0.89890	0.0:0.0:1.0:0.0	.	1350	Q8NFA0	UBP32_HUMAN	L	1350	ENSP00000300896:S1350L	ENSP00000300896:S1350L	S	-	2	0	USP32	55615382	0.938000	0.31826	0.559000	0.28332	0.707000	0.40811	4.989000	0.63870	2.741000	0.93983	0.557000	0.71058	TCG	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.592	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	G	NM_032582		58260600	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	0.293	A
USP33	23032	genome.wustl.edu	37	1	78194240	78194240	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:78194240G>A	ENST00000370793.1	-	11	1314	c.968C>T	c.(967-969)tCt>tTt	p.S323F	USP33_ENST00000370792.3_Missense_Mutation_p.S323F|USP33_ENST00000357428.1_Missense_Mutation_p.S323F|USP33_ENST00000370794.3_Missense_Mutation_p.S292F	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	323	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTTGCTACAAGATTCACAAGA	0.373																																					Melanoma(152;72 1870 11110 26780 42647)												0													183.0	156.0	165.0					1																	78194240		2203	4300	6503	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.968C>T	1.37:g.78194240G>A	ENSP00000359829:p.Ser323Phe		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.S323F	ENST00000370793.1	37	c.968	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597118	0.87055	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.11930	2.75;2.73;2.73;2.73	5.3	5.3	0.74995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.440664	0.23035	N	0.052693	T	0.28830	0.0715	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.977;0.988;0.996	T	0.02766	-1.1113	10	0.18710	T	0.47	.	18.3287	0.90261	0.0:0.0:1.0:0.0	.	323;292;323	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	F	292;323;323;323	ENSP00000359830:S292F;ENSP00000359829:S323F;ENSP00000350009:S323F;ENSP00000359828:S323F	ENSP00000350009:S323F	S	-	2	0	USP33	77966828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.091000	0.94151	2.657000	0.90304	0.591000	0.81541	TCT	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	G	NM_015017		78194240	-1	no_errors	ENST00000357428	ensembl	human	known	70_37	missense	SNP	1.000	A
USP38	84640	genome.wustl.edu	37	4	144106718	144106718	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:144106718G>C	ENST00000307017.4	+	1	621	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	USP38_ENST00000510377.1_Missense_Mutation_p.E39Q|RP11-284M14.1_ENST00000507486.1_RNA|RP11-284M14.1_ENST00000507826.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	39					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCGCAGTGCGAGGCCATGTT	0.652																																																	0													76.0	65.0	69.0					4																	144106718		2203	4300	6503	SO:0001583	missense	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.115G>C	4.37:g.144106718G>C	ENSP00000303434:p.Glu39Gln		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E39Q	ENST00000307017.4	37	c.115	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881012	0.33255	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.67698	-0.28;-0.28	5.3	3.55	0.40652	.	0.405610	0.25247	N	0.032057	T	0.43055	0.1230	N	0.08118	0	0.29446	N	0.858787	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.30563	-0.9974	10	0.25751	T	0.34	-8.2409	10.1217	0.42625	0.0771:0.5015:0.4214:0.0	.	39;39	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	Q	39	ENSP00000427647:E39Q;ENSP00000303434:E39Q	ENSP00000303434:E39Q	E	+	1	0	USP38	144326168	0.941000	0.31946	1.000000	0.80357	0.987000	0.75469	0.067000	0.14510	0.779000	0.33543	0.561000	0.74099	GAG	USP38	-	NULL		0.652	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1	G	NM_032557		144106718	+1	no_errors	ENST00000307017	ensembl	human	known	70_37	missense	SNP	1.000	C
USP40	55230	genome.wustl.edu	37	2	234398105	234398105	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:234398105C>G	ENST00000427112.2	-	26	3069	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Missense_Mutation_p.E1012Q|USP40_ENST00000450966.1_Missense_Mutation_p.E1024Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1012					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACACCGAACTCCAGGAAAGGA	0.498																																																	0													29.0	33.0	31.0					2																	234398105		1927	4127	6054	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3034G>C	2.37:g.234398105C>G	ENSP00000387898:p.Glu1012Gln		Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E1024Q	ENST00000427112.2	37	c.3070	CCDS46547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.281|9.281	1.048073|1.048073	0.19827|0.19827	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112|ENST00000454354;ENST00000430158	T;T;T|.	0.04970|.	3.52;3.52;3.52|.	5.5|5.5	4.62|4.62	0.57501|0.57501	.|.	0.562324|.	0.14566|.	N|.	0.311734|.	T|T	0.50939|0.50939	0.1645|0.1645	L|L	0.50333|0.50333	1.59|1.59	0.23994|0.23994	N|N	0.996235|0.996235	B;P|.	0.37864|.	0.303;0.61|.	B;B|.	0.38616|.	0.158;0.277|.	T|T	0.41627|0.41627	-0.9498|-0.9498	10|5	0.13470|.	T|.	0.59|.	.|.	13.4046|13.4046	0.60903|0.60903	0.0:0.9232:0.0:0.0768|0.0:0.9232:0.0:0.0768	.|.	1024;672|.	Q9NVE5-3;B4DN96|.	.;.|.	Q|C	1024;1012;1012|1;187	ENSP00000415434:E1024Q;ENSP00000251722:E1012Q;ENSP00000387898:E1012Q|.	ENSP00000251722:E1012Q|.	E|W	-|-	1|3	0|0	USP40|USP40	234062844|234062844	0.013000|0.013000	0.17824|0.17824	0.008000|0.008000	0.14137|0.14137	0.016000|0.016000	0.09150|0.09150	0.519000|0.519000	0.22862|0.22862	1.283000|1.283000	0.44513|0.44513	0.650000|0.650000	0.86243|0.86243	GAG|TGG	USP40	-	NULL		0.498	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	C	XM_114294		234398105	-1	no_errors	ENST00000450966	ensembl	human	known	70_37	missense	SNP	0.515	G
VAMP1	6843	genome.wustl.edu	37	12	6579755	6579755	+	5'UTR	SNP	G	G	A	rs386759936		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:6579755G>A	ENST00000396308.3	-	0	88				VAMP1_ENST00000361716.3_5'UTR|VAMP1_ENST00000400911.3_5'UTR|VAMP1_ENST00000535180.1_5'UTR|VAMP1_ENST00000544432.1_5'UTR	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)						neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	CGAGACACCCGGTGAGGGACG	0.637																																																	0													69.0	64.0	65.0					12																	6579755		692	1591	2283	SO:0001623	5_prime_UTR_variant	6843				CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"""Vesicle-associated membrane proteins"""	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.-58C>T	12.37:g.6579755G>A			A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	RNA	SNP	-	NULL	ENST00000396308.3	37	NULL	CCDS41740.1	12																																																																																			VAMP1	-	-		0.637	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP1	HGNC	protein_coding	OTTHUMT00000399078.1	G			6579755	-1	no_errors	ENST00000535927	ensembl	human	known	70_37	rna	SNP	0.002	A
VCX3B	425054	genome.wustl.edu	37	X	8434329	8434329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:8434329C>T	ENST00000381032.1	+	3	953	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	VCX3B_ENST00000381029.4_Nonsense_Mutation_p.Q184*|VCX3B_ENST00000440654.2_Nonsense_Mutation_p.Q166*|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_Nonsense_Mutation_p.Q186*	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	216	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						ACCACTGAGTCAGGAGAGCCA	0.562																																																	0													80.0	140.0	120.0					X																	8434329		2181	4243	6424	SO:0001587	stop_gained	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.646C>T	X.37:g.8434329C>T	ENSP00000370420:p.Gln216*		C9JS46|Q4KN12	Nonsense_Mutation	SNP	NULL	p.Q186*	ENST00000381032.1	37	c.556	CCDS48077.2	X	.	.	.	.	.	.	.	.	.	.	N	13.50	2.254591	0.39896	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000440654;ENST00000381029	.	.	.	0.705	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	0.23406	N	0.997742	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	6.698	0.23209	0.0:0.3599:0.64:0.0	.	.	.	.	X	216;186;166;184	.	ENSP00000370417:Q184X	Q	+	1	0	VCX3B	8394329	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.114000	0.01329	-0.177000	0.10690	-0.635000	0.03985	CAG	VCX3B	-	NULL		0.562	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	C			8434329	+1	no_errors	ENST00000444481	ensembl	human	known	70_37	nonsense	SNP	0.000	T
VEGFC	7424	genome.wustl.edu	37	4	177713352	177713352	+	Silent	SNP	G	G	A	rs368695233		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:177713352G>A	ENST00000280193.2	-	1	529	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	38					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGCGTCCGAGAGGTCGAGTC	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		9374	0.0		0.001	False		,,,				2504	0.0																0								G		0,3694		0,0,1847	15.0	18.0	17.0		114	0.7	0.9	4		17	6,8136		0,6,4065	no	coding-synonymous	VEGFC	NM_005429.2		0,6,5912	AA,AG,GG		0.0737,0.0,0.0507		38/421	177713352	6,11830	1847	4071	5918	SO:0001819	synonymous_variant	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.114C>T	4.37:g.177713352G>A			B2R9Q8	Silent	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.L38	ENST00000280193.2	37	c.114	CCDS43285.1	4																																																																																			VEGFC	-	NULL		0.701	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	G	NM_005429		177713352	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	silent	SNP	0.857	A
VEZT	55591	genome.wustl.edu	37	12	95694220	95694220	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:95694220G>T	ENST00000436874.1	+	12	2216	c.2111G>T	c.(2110-2112)gGa>gTa	p.G704V	VEZT_ENST00000261219.6_Missense_Mutation_p.G656V|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	704					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAAGCAGATGGAAGTGGTCTG	0.468																																																	0													58.0	57.0	57.0					12																	95694220		1987	4168	6155	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2111G>T	12.37:g.95694220G>T	ENSP00000410083:p.Gly704Val		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.G704V	ENST00000436874.1	37	c.2111	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226275	0.01518	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.14640	2.49;2.49;2.49	5.73	-1.44	0.08856	.	0.634518	0.16816	N	0.198347	T	0.03915	0.0110	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35001	-0.9806	10	0.26408	T	0.33	-14.9949	2.01	0.03485	0.148:0.3073:0.1122:0.4324	.	704	Q9HBM0	VEZA_HUMAN	V	704;656;660;704	ENSP00000410083:G704V;ENSP00000261219:G656V;ENSP00000380894:G660V	ENSP00000261219:G656V	G	+	2	0	VEZT	94218351	0.006000	0.16342	0.000000	0.03702	0.012000	0.07955	0.201000	0.17276	-0.062000	0.13088	0.650000	0.86243	GGA	VEZT	-	NULL		0.468	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	G	NM_017599		95694220	+1	no_errors	ENST00000436874	ensembl	human	known	70_37	missense	SNP	0.000	T
VPS11	55823	genome.wustl.edu	37	11	118938588	118938588	+	Silent	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr11:118938588G>T	ENST00000300793.6	+	1	96	c.54G>T	c.(52-54)gtG>gtT	p.V18V	RP11-110I1.13_ENST00000607709.1_RNA|RP11-110I1.14_ENST00000607857.1_lincRNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	18					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGGAGCTGGTGAAGGAGCCGC	0.622																																																	0													19.0	22.0	21.0					11																	118938588		1913	4106	6019	SO:0001819	synonymous_variant	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.54G>T	11.37:g.118938588G>T			Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.622	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		G	NM_021729		118938588	+1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	T
VPS13D	55187	genome.wustl.edu	37	1	12408985	12408985	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:12408985G>C	ENST00000358136.3	+	45	9305	c.9175G>C	c.(9175-9177)Gag>Cag	p.E3059Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3034Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.E3059K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACAGACTTGAGACACCAAT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											121.0	110.0	114.0					1																	12408985		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9175G>C	1.37:g.12408985G>C	ENSP00000350854:p.Glu3059Gln			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E3059Q	ENST00000358136.3	37	c.9175	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.187087|5.187087	0.94923|0.94923	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|T	0.51071|0.47528	0.73;0.72|0.84	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.048878|.	0.85682|.	D|.	0.000000|.	T|T	0.53094|0.53094	0.1775|0.1775	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	P;P|.	0.49862|.	0.929;0.883|.	P;P|.	0.48598|.	0.583;0.563|.	T|T	0.39583|0.39583	-0.9607|-0.9607	10|7	0.22706|0.35671	T|T	0.39|0.21	.|.	19.8836|19.8836	0.96906|0.96906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3034;3058|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	Q|F	3034;3059|1880	ENSP00000348666:E3034Q;ENSP00000350854:E3059Q|ENSP00000011700:L1880F	ENSP00000348666:E3034Q|ENSP00000011700:L1880F	E|L	+|+	1|3	0|2	VPS13D|VPS13D	12331572|12331572	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	GAG|TTG	VPS13D	-	NULL		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12408985	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS37A	137492	genome.wustl.edu	37	8	17126424	17126424	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:17126424G>C	ENST00000324849.4	+	4	1049	c.375G>C	c.(373-375)aaG>aaC	p.K125N	VPS37A_ENST00000521829.1_Missense_Mutation_p.K100N|VPS37A_ENST00000324815.3_Missense_Mutation_p.K125N	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	125					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AGTTTTGGAAGAATCCTCCAG	0.313																																																	0													98.0	95.0	96.0					8																	17126424		2203	4297	6500	SO:0001583	missense	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.375G>C	8.37:g.17126424G>C	ENSP00000318629:p.Lys125Asn		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.K125N	ENST00000324849.4	37	c.375	CCDS6001.1	8	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407180	0.62399	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000521829	T;T	0.58797	0.31;0.36	4.6	4.6	0.57074	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.64997	1.995	0.51482	D	0.999926	P;D	0.76494	0.797;0.999	P;D	0.81914	0.532;0.995	T	0.69826	-0.5040	10	0.54805	T	0.06	-13.3808	8.4826	0.33052	0.0803:0.0:0.7657:0.154	.	100;125	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	N	125;125;100	ENSP00000318629:K125N;ENSP00000429680:K100N	ENSP00000318173:K125N	K	+	3	2	VPS37A	17170795	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.880000	0.39628	2.485000	0.83878	0.655000	0.94253	AAG	VPS37A	-	superfamily_UBQ-conjugating_enzyme/RWD		0.313	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	G	NM_152415		17126424	+1	no_errors	ENST00000324849	ensembl	human	known	70_37	missense	SNP	1.000	C
VSIG1	340547	genome.wustl.edu	37	X	107319386	107319386	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:107319386C>T	ENST00000217957.5	+	6	885	c.768C>T	c.(766-768)ttC>ttT	p.F256F	VSIG1_ENST00000415430.3_Silent_p.F292F	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	256						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGTGTGCTTCGCAAGGAATA	0.438																																																	0													187.0	161.0	170.0					X																	107319386		2203	4300	6503	SO:0001819	synonymous_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.768C>T	X.37:g.107319386C>T			C9J4P2|Q6MZS4	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F292	ENST00000217957.5	37	c.876	CCDS14535.1	X																																																																																			VSIG1	-	NULL		0.438	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	C	NM_182607		107319386	+1	no_errors	ENST00000415430	ensembl	human	known	70_37	silent	SNP	0.008	T
VWA7	80737	genome.wustl.edu	37	6	31734272	31734272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:31734272G>A	ENST00000375688.4	-	14	2352	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	VWA7_ENST00000375686.3_Nonsense_Mutation_p.Q718*|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	718						extracellular region (GO:0005576)											GTGCTAGGCTGAGGGGCAGCC	0.667																																																	0													18.0	15.0	16.0					6																	31734272		1505	2708	4213	SO:0001587	stop_gained	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2152C>T	6.37:g.31734272G>A	ENSP00000364840:p.Gln718*		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Nonsense_Mutation	SNP	NULL	p.Q718*	ENST00000375688.4	37	c.2152	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	G	41	8.801474	0.98958	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	.	.	.	5.11	5.11	0.69529	.	0.224065	0.37857	N	0.001909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-20.1342	13.9127	0.63878	0.0:0.0:1.0:0.0	.	.	.	.	X	718	.	ENSP00000364838:Q718X	Q	-	1	0	C6orf27	31842251	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.139000	0.50577	2.654000	0.90174	0.563000	0.77884	CAG	VWA7	-	NULL		0.667	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	G	NM_025258		31734272	-1	no_errors	ENST00000375686	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WASF1	8936	genome.wustl.edu	37	6	110424697	110424697	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:110424697C>G	ENST00000392589.1	-	9	1613	c.777G>C	c.(775-777)caG>caC	p.Q259H	WASF1_ENST00000392588.1_Missense_Mutation_p.Q259H|WASF1_ENST00000359451.2_Missense_Mutation_p.Q259H|WASF1_ENST00000392586.1_Missense_Mutation_p.Q259H|WASF1_ENST00000392587.2_Missense_Mutation_p.Q259H	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	259					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)	p.Q259H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GCTCACTCATCTGACTAAATG	0.428																																																	1	Substitution - Missense(1)	lung(1)											171.0	147.0	155.0					6																	110424697		2203	4300	6503	SO:0001583	missense	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.777G>C	6.37:g.110424697C>G	ENSP00000376368:p.Gln259His		E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.Q259H	ENST00000392589.1	37	c.777	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352044	0.41700	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.51	3.74	0.42951	.	0.105434	0.64402	D	0.000003	T	0.40862	0.1134	L	0.27053	0.805	0.49687	D	0.999819	D	0.61697	0.99	D	0.70487	0.969	T	0.38090	-0.9677	10	0.45353	T	0.12	.	12.0399	0.53446	0.0:0.8608:0.0:0.1392	.	259	Q92558	WASF1_HUMAN	H	259	ENSP00000376365:Q259H;ENSP00000376366:Q259H;ENSP00000376368:Q259H;ENSP00000376367:Q259H;ENSP00000352425:Q259H	ENSP00000352425:Q259H	Q	-	3	2	WASF1	110531390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.607000	0.54102	0.826000	0.34661	0.650000	0.86243	CAG	WASF1	-	NULL		0.428	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	C	NM_003931		110424697	-1	no_errors	ENST00000359451	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR1	9948	genome.wustl.edu	37	4	10117966	10117966	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:10117966G>A	ENST00000499869.2	-	2	210				WDR1_ENST00000382452.2_Intron|RNA5SP155_ENST00000411154.1_RNA|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TGTTGACTGCGCCGGGAGGGC	0.741																																																	0													7.0	9.0	8.0					4																	10117966		861	1969	2830	SO:0001627	intron_variant	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.17-108C>T	4.37:g.10117966G>A			A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	RNA	SNP	-	NULL	ENST00000499869.2	37	NULL	CCDS54740.1	4																																																																																			WDR1	-	-		0.741	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	HGNC	protein_coding	OTTHUMT00000359877.1	G			10117966	-1	no_errors	ENST00000505851	ensembl	human	known	70_37	rna	SNP	0.000	A
WDFY3	23001	genome.wustl.edu	37	4	85731124	85731124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:85731124G>C	ENST00000295888.4	-	14	2668	c.2261C>G	c.(2260-2262)tCa>tGa	p.S754*	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Nonsense_Mutation_p.S754*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	754					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGATTCTATTGAGATTACATC	0.398																																																	0													147.0	140.0	142.0					4																	85731124		2203	4300	6503	SO:0001587	stop_gained	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2261C>G	4.37:g.85731124G>C	ENSP00000295888:p.Ser754*		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S754*	ENST00000295888.4	37	c.2261	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.939342	0.97948	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	6.07	2.24	0.28232	.	0.905217	0.09719	N	0.764731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	3.8333	0.08883	0.1334:0.2587:0.4881:0.1198	.	.	.	.	X	754	.	ENSP00000295888:S754X	S	-	2	0	WDFY3	85950148	0.196000	0.23350	0.000000	0.03702	0.010000	0.07245	2.973000	0.49264	0.434000	0.26340	0.655000	0.94253	TCA	WDFY3	-	superfamily_ARM-type_fold		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85731124	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	nonsense	SNP	0.002	C
WDR11	55717	genome.wustl.edu	37	10	122668850	122668850	+	3'UTR	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:122668850G>C	ENST00000263461.6	+	0	4546				WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11						cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGAGGTCTTTGATATTTTGAA	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.*625G>C	10.37:g.122668850G>C			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	RNA	SNP	-	NULL	ENST00000263461.6	37	NULL	CCDS7619.1	10																																																																																			WDR11	-	-		0.318	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	G			122668850	+1	no_errors	ENST00000497136	ensembl	human	known	70_37	rna	SNP	0.011	C
WDR19	57728	genome.wustl.edu	37	4	39271645	39271645	+	Silent	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:39271645G>C	ENST00000399820.3	+	31	3562	c.3408G>C	c.(3406-3408)ctG>ctC	p.L1136L	WDR19_ENST00000288634.7_Silent_p.L976L	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1136					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						ATGCAGAACTGAAATCCCAGA	0.453																																																	0													145.0	134.0	137.0					4																	39271645		1926	4142	6068	SO:0001819	synonymous_variant	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3408G>C	4.37:g.39271645G>C			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L1136	ENST00000399820.3	37	c.3408	CCDS47042.1	4																																																																																			WDR19	-	NULL		0.453	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	G			39271645	+1	no_errors	ENST00000399820	ensembl	human	known	70_37	silent	SNP	0.917	C
WDR17	116966	genome.wustl.edu	37	4	177046476	177046476	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:177046476C>T	ENST00000280190.4	+	6	988	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	WDR17_ENST00000508596.1_Missense_Mutation_p.P254S|WDR17_ENST00000393643.2_Missense_Mutation_p.P254S|WDR17_ENST00000507824.2_Missense_Mutation_p.P261S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	278										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCCTGGGTTCCCAGTGCTCC	0.403																																																	0													120.0	125.0	124.0					4																	177046476		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.832C>T	4.37:g.177046476C>T	ENSP00000280190:p.Pro278Ser		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P278S	ENST00000280190.4	37	c.832	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316493	0.60524	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60672	0.21;0.23;0.17	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.059241	0.64402	D	0.000002	T	0.59404	0.2191	M	0.73962	2.25	0.58432	D	0.999999	B;B	0.22746	0.074;0.074	B;B	0.23018	0.043;0.043	T	0.60999	-0.7151	10	0.66056	D	0.02	-6.1363	14.2485	0.66004	0.0:0.927:0.0:0.073	.	254;278	E7EQX0;Q8IZU2	.;WDR17_HUMAN	S	254;254;278;261	ENSP00000422763:P254S;ENSP00000377258:P254S;ENSP00000280190:P278S	ENSP00000280190:P278S	P	+	1	0	WDR17	177283470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.411000	0.52672	2.722000	0.93159	0.650000	0.86243	CCC	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.403	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177046476	+1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR45	11152	genome.wustl.edu	37	X	48934502	48934502	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:48934502C>T	ENST00000376372.3	-	5	417				WDR45_ENST00000396681.4_Intron|WDR45_ENST00000473974.1_Intron|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000356463.3_Intron|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376386.3_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Intron|WDR45_ENST00000485908.1_Intron|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000322995.8_Intron	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45						autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CCAGGGACCTCAACCTACTTG	0.552																																																	0																																										SO:0001627	intron_variant	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.236-93G>A	X.37:g.48934502C>T			A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	RNA	SNP	-	NULL	ENST00000376372.3	37	NULL	CCDS35250.1	X																																																																																			WDR45	-	-		0.552	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	C	NM_007075		48934502	-1	no_errors	ENST00000470270	ensembl	human	known	70_37	rna	SNP	0.001	T
WDR44	54521	genome.wustl.edu	37	X	117480348	117480348	+	5'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:117480348C>G	ENST00000254029.3	+	0	277				WDR44_ENST00000371825.3_5'UTR|WDR44_ENST00000371822.5_5'UTR|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44							endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCTGCTCCCTCAGCCTCGCCC	0.672																																																	0																																										SO:0001623	5_prime_UTR_variant	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.-119C>G	X.37:g.117480348C>G			B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	RNA	SNP	-	NULL	ENST00000254029.3	37	NULL	CCDS14572.1	X																																																																																			WDR44	-	-		0.672	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	C	NM_019045		117480348	+1	no_errors	ENST00000493448	ensembl	human	known	70_37	rna	SNP	0.000	G
WDR66	144406	genome.wustl.edu	37	12	122413586	122413586	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr12:122413586G>A	ENST00000288912.4	+	19	3855	c.3001G>A	c.(3001-3003)Gag>Aag	p.E1001K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1001							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCCATCTGAAGAGAAGGTAGG	0.423																																					Esophageal Squamous(85;849 1794 49757 52143)												0													116.0	105.0	108.0					12																	122413586		1896	4138	6034	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3001G>A	12.37:g.122413586G>A	ENSP00000288912:p.Glu1001Lys		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E1001K	ENST00000288912.4	37	c.3001	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704031	0.48412	.	.	ENSG00000158023	ENST00000288912	T	0.80304	-1.36	5.05	5.05	0.67936	EF-hand-like domain (1);	0.263950	0.37669	N	0.001997	T	0.72922	0.3521	L	0.38175	1.15	0.80722	D	1	B	0.15473	0.013	B	0.14023	0.01	T	0.68973	-0.5268	10	0.41790	T	0.15	.	14.0761	0.64891	0.0:0.1507:0.8493:0.0	.	1001	Q8TBY9	WDR66_HUMAN	K	1001	ENSP00000288912:E1001K	ENSP00000288912:E1001K	E	+	1	0	WDR66	120897969	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.703000	0.54808	2.341000	0.79615	0.561000	0.74099	GAG	WDR66	-	NULL		0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	G	NM_144668		122413586	+1	no_errors	ENST00000288912	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR90	197335	genome.wustl.edu	37	16	705684	705684	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:705684G>A	ENST00000293879.4	+	16	1830	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.Q610Q			Q96KV7	WDR90_HUMAN	WD repeat domain 90	610										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCACCCACAGAAGCAGACCT	0.687																																																	0													16.0	20.0	18.0					16																	705684		2151	4246	6397	SO:0001819	synonymous_variant	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1830G>A	16.37:g.705684G>A			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q610	ENST00000293879.4	37	c.1830	CCDS42092.1	16																																																																																			WDR90	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat		0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		705684	+1	no_errors	ENST00000549091	ensembl	human	novel	70_37	silent	SNP	0.920	A
WFIKKN2	124857	genome.wustl.edu	37	17	48917592	48917592	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:48917592G>C	ENST00000311378.4	+	2	1471	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222Q|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	315					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCACCTCAGAGAGCAGCCC	0.657																																																	0													49.0	44.0	46.0					17																	48917592		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.943G>C	17.37:g.48917592G>C	ENSP00000311184:p.Glu315Gln		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E315Q	ENST00000311378.4	37	c.943	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	g	9.569	1.120507	0.20877	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.81821	-1.54;-1.54	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.70613	0.3244	L	0.47716	1.5	0.29924	N	0.822476	P	0.42735	0.788	B	0.35931	0.214	T	0.69800	-0.5047	10	0.25751	T	0.34	.	10.8268	0.46638	0.1465:0.0:0.8535:0.0	.	315	Q8TEU8	WFKN2_HUMAN	Q	222;315	ENSP00000405889:E222Q;ENSP00000311184:E315Q	ENSP00000311184:E315Q	E	+	1	0	WFIKKN2	46272591	0.776000	0.28616	0.848000	0.33437	0.263000	0.26337	1.295000	0.33377	2.533000	0.85409	0.651000	0.88453	GAG	WFIKKN2	-	NULL		0.657	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	G	NM_175575		48917592	+1	no_errors	ENST00000311378	ensembl	human	known	70_37	missense	SNP	0.741	C
WHSC1	7468	genome.wustl.edu	37	4	1918753	1918753	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:1918753G>A	ENST00000382895.3	+	6	1347	c.916G>A	c.(916-918)Gag>Aag	p.E306K	WHSC1_ENST00000382892.2_Missense_Mutation_p.E306K|WHSC1_ENST00000382891.5_Missense_Mutation_p.E306K|WHSC1_ENST00000508803.1_Missense_Mutation_p.E306K|WHSC1_ENST00000398261.1_Missense_Mutation_p.E306K|WHSC1_ENST00000420906.2_Missense_Mutation_p.E306K|WHSC1_ENST00000503128.1_Missense_Mutation_p.E306K|WHSC1_ENST00000514045.1_Missense_Mutation_p.E306K	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	306					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CACGAAAGCTGAGAAAATTAA	0.353			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													55.0	58.0	57.0					4																	1918753		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.916G>A	4.37:g.1918753G>A	ENSP00000372351:p.Glu306Lys		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.E306K	ENST00000382895.3	37	c.916	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387880	0.82902	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000015	T	0.81870	0.4914	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.999;0.999	D;P;D;D	0.81914	0.995;0.784;0.995;0.995	T	0.76435	-0.2960	10	0.23302	T	0.38	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	306;306;306;306	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	K	306	ENSP00000423972:E306K;ENSP00000421681:E306K;ENSP00000372347:E306K;ENSP00000372348:E306K;ENSP00000399251:E306K;ENSP00000372351:E306K;ENSP00000425761:E306K;ENSP00000422878:E306K;ENSP00000381311:E306K	ENSP00000308780:E306K	E	+	1	0	WHSC1	1888551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.328000	0.65887	2.717000	0.92951	0.655000	0.94253	GAG	WHSC1	-	NULL		0.353	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	G	NM_133330		1918753	+1	no_errors	ENST00000382891	ensembl	human	known	70_37	missense	SNP	1.000	A
WHSC1	7468	genome.wustl.edu	37	4	1919928	1919928	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:1919928G>T	ENST00000382895.3	+	7	1419	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	WHSC1_ENST00000382892.2_Nonsense_Mutation_p.E330*|WHSC1_ENST00000382891.5_Nonsense_Mutation_p.E330*|WHSC1_ENST00000508803.1_Nonsense_Mutation_p.E330*|WHSC1_ENST00000398261.1_Nonsense_Mutation_p.E330*|WHSC1_ENST00000420906.2_Nonsense_Mutation_p.E330*|WHSC1_ENST00000503128.1_Nonsense_Mutation_p.E330*|WHSC1_ENST00000514045.1_Nonsense_Mutation_p.E330*	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	330					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTTCAAGCAGAAGAAGCTGC	0.473			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													68.0	68.0	68.0					4																	1919928		2203	4300	6503	SO:0001587	stop_gained	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.988G>T	4.37:g.1919928G>T	ENSP00000372351:p.Glu330*		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Nonsense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.E330*	ENST00000382895.3	37	c.988	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.342544	0.95783	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	.	.	.	5.39	3.39	0.38822	.	0.725622	0.12448	N	0.468056	.	.	.	.	.	.	0.32694	N	0.513827	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	2.4153	0.04435	0.4611:0.283:0.2559:0.0	.	.	.	.	X	330	.	ENSP00000308780:E330X	E	+	1	0	WHSC1	1889726	0.787000	0.28750	0.001000	0.08648	0.994000	0.84299	3.934000	0.56553	0.508000	0.28173	0.561000	0.74099	GAA	WHSC1	-	NULL		0.473	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	G	NM_133330		1919928	+1	no_errors	ENST00000382891	ensembl	human	known	70_37	nonsense	SNP	0.233	T
WIPF1	7456	genome.wustl.edu	37	2	175431874	175431874	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:175431874G>A	ENST00000392547.2	-	7	1479	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Silent_p.S460S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.S460S|WIPF1_ENST00000409891.1_Silent_p.S460S|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000359761.3_Silent_p.S460S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	460					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GTGGCAAATCGGAAATCGGAT	0.443																																																	0													134.0	133.0	133.0					2																	175431874		2203	4300	6503	SO:0001819	synonymous_variant	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1380C>T	2.37:g.175431874G>A			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.S460	ENST00000392547.2	37	c.1380	CCDS2260.1	2																																																																																			WIPF1	-	NULL		0.443	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	G	NM_003387		175431874	-1	no_errors	ENST00000272746	ensembl	human	known	70_37	silent	SNP	0.997	A
WNK4	65266	genome.wustl.edu	37	17	40947102	40947102	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:40947102C>T	ENST00000246914.5	+	14	2684	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	888					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCACGACTTCTCCACCTACG	0.577																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													263.0	242.0	249.0					17																	40947102		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2663C>T	17.37:g.40947102C>T	ENSP00000246914:p.Ser888Phe		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S888F	ENST00000246914.5	37	c.2663	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	7.000	0.554666	0.13436	.	.	ENSG00000126562	ENST00000246914	T	0.25749	1.78	5.32	4.35	0.52113	.	0.179445	0.27076	N	0.021053	T	0.13713	0.0332	N	0.14661	0.345	0.27635	N	0.947919	P;P;P	0.41524	0.753;0.498;0.498	B;B;B	0.37304	0.246;0.125;0.08	T	0.07046	-1.0793	10	0.42905	T	0.14	-11.1283	8.3168	0.32104	0.0:0.7374:0.1516:0.1109	.	888;888;888	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	F	888	ENSP00000246914:S888F	ENSP00000246914:S888F	S	+	2	0	WNK4	38200628	0.016000	0.18221	0.605000	0.28930	0.056000	0.15407	1.809000	0.38922	1.367000	0.46095	0.591000	0.81541	TCT	WNK4	-	NULL		0.577	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40947102	+1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.920	T
WWOX	51741	genome.wustl.edu	37	16	78466405	78466405	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:78466405C>G	ENST00000566780.1	+	8	1178	c.812C>G	c.(811-813)tCc>tGc	p.S271C	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.S271C|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	271	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTAACGACTCCTTGGGAAAA	0.403																																																	0													111.0	114.0	113.0					16																	78466405		1899	4105	6004	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.812C>G	16.37:g.78466405C>G	ENSP00000457230:p.Ser271Cys		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.S271C	ENST00000566780.1	37	c.812	CCDS42196.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.37|13.37	2.216057|2.216057	0.39201|0.39201	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|T	.|0.22743	.|1.94	5.93|5.93	4.98|4.98	0.66077|0.66077	.|NAD(P)-binding domain (1);	.|0.081464	.|0.50627	.|D	.|0.000102	T|T	0.14356|0.14356	0.0347|0.0347	N|N	0.14661|0.14661	0.345|0.345	0.46222|0.46222	D|D	0.998932|0.998932	.|P	.|0.36027	.|0.533	.|B	.|0.38921	.|0.285	T|T	0.11591|0.11591	-1.0581|-1.0581	6|10	0.48119|0.37606	T|T	0.1|0.19	.|.	11.48|11.48	0.50320|0.50320	0.0:0.8068:0.1256:0.0676|0.0:0.8068:0.1256:0.0676	.|.	.|271	.|Q9NZC7	.|WWOX_HUMAN	A|C	114|271	.|ENSP00000386161:S271C	ENSP00000299644:P114A|ENSP00000386161:S271C	P|S	+|+	1|2	0|0	WWOX|WWOX	77023906|77023906	0.981000|0.981000	0.34729|0.34729	0.606000|0.606000	0.28943|0.28943	0.023000|0.023000	0.10783|0.10783	1.966000|1.966000	0.40481|0.40481	1.520000|1.520000	0.48965|0.48965	0.655000|0.655000	0.94253|0.94253	CCT|TCC	WWOX	-	NULL		0.403	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	C			78466405	+1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	G
YARS	8565	genome.wustl.edu	37	1	33245679	33245679	+	Intron	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:33245679C>T	ENST00000373477.4	-	11	2243				YARS_ENST00000469100.1_Intron	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase						apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TCCAAGTCCTCACTCACATAG	0.552																																																	0													153.0	123.0	133.0					1																	33245679		2203	4300	6503	SO:0001627	intron_variant	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1334+6G>A	1.37:g.33245679C>T			B3KWK4|D3DPQ4|O43276|Q53EN1	RNA	SNP	-	NULL	ENST00000373477.4	37	NULL	CCDS368.1	1																																																																																			YARS	-	-		0.552	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	C	NM_003680		33245679	-1	no_errors	ENST00000490826	ensembl	human	known	70_37	rna	SNP	0.618	T
YARS	8565	genome.wustl.edu	37	1	33245725	33245725	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:33245725C>G	ENST00000373477.4	-	11	2203	c.1295G>C	c.(1294-1296)aGa>aCa	p.R432T	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	432	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTCGACTCCTCTCATCTTCTG	0.582																																																	0													223.0	173.0	190.0					1																	33245725		2203	4300	6503	SO:0001583	missense	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1295G>C	1.37:g.33245725C>G	ENSP00000362576:p.Arg432Thr		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.R432T	ENST00000373477.4	37	c.1295	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971679	0.92919	.	.	ENSG00000134684	ENST00000373477	T	0.79141	-1.24	5.09	5.09	0.68999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	H	0.99074	4.42	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.96161	0.9115	10	0.87932	D	0	-14.4729	18.9199	0.92520	0.0:1.0:0.0:0.0	.	432	P54577	SYYC_HUMAN	T	432	ENSP00000362576:R432T	ENSP00000362576:R432T	R	-	2	0	YARS	33018312	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.506000	0.81665	2.542000	0.85734	0.655000	0.94253	AGA	YARS	-	pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom		0.582	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	C	NM_003680		33245725	-1	no_errors	ENST00000373477	ensembl	human	known	70_37	missense	SNP	1.000	G
YEATS2	55689	genome.wustl.edu	37	3	183495367	183495367	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:183495367C>G	ENST00000305135.5	+	19	2810	c.2615C>G	c.(2614-2616)tCt>tGt	p.S872C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	872					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGACTTCTGGAAAACAA	0.433																																																	0													93.0	87.0	89.0					3																	183495367		2002	4190	6192	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2615C>G	3.37:g.183495367C>G	ENSP00000306983:p.Ser872Cys		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S872C	ENST00000305135.5	37	c.2615	CCDS43175.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.987807|4.987807	0.93106|0.93106	.|.	.|.	ENSG00000163872|ENSG00000163872	ENST00000432781|ENST00000421660;ENST00000305135	.|D	.|0.86097	.|-2.07	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.145357	.|0.47852	.|D	.|0.000203	D|D	0.83008|0.83008	0.5161|0.5161	N|N	0.24115|0.24115	0.695|0.695	0.51012|0.51012	D|D	0.999907|0.999907	.|D	.|0.61697	.|0.99	.|P	.|0.48901	.|0.594	D|D	0.85431|0.85431	0.1149|0.1149	5|10	.|0.72032	.|D	.|0.01	-8.3363|-8.3363	19.7885|19.7885	0.96447|0.96447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|872	.|Q9ULM3	.|YETS2_HUMAN	L|C	57|872	.|ENSP00000306983:S872C	.|ENSP00000306983:S872C	F|S	+|+	3|2	2|0	YEATS2|YEATS2	184978061|184978061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.710000|6.710000	0.74670|0.74670	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	TTC|TCT	YEATS2	-	NULL		0.433	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183495367	+1	no_errors	ENST00000305135	ensembl	human	known	70_37	missense	SNP	1.000	G
YLPM1	56252	genome.wustl.edu	37	14	75248736	75248736	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr14:75248736G>A	ENST00000552421.1	+	4	2114	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	YLPM1_ENST00000325680.7_Missense_Mutation_p.E664K|YLPM1_ENST00000238571.3_Missense_Mutation_p.E469K			P49750	YLPM1_HUMAN	YLP motif containing 1	469					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCAAGTTCCAGAGAAACCTAG	0.537																																																	0													94.0	95.0	95.0					14																	75248736		2009	4182	6191	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1990G>A	14.37:g.75248736G>A	ENSP00000447921:p.Glu664Lys		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.E664K	ENST00000552421.1	37	c.1990		14	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706969	0.48412	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.93	5.93	0.95920	.	0.244508	0.36101	N	0.002787	T	0.31009	0.0783	N	0.24115	0.695	0.34062	D	0.657438	P	0.35272	0.493	B	0.31101	0.124	T	0.45614	-0.9249	9	0.34782	T	0.22	-5.481	10.6427	0.45602	0.0694:0.1329:0.7976:0.0	.	664	P49750-4	.	K	664;664;469;377	.	ENSP00000238571:E469K	E	+	1	0	YLPM1	74318489	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.891000	0.56227	2.818000	0.97014	0.591000	0.81541	GAG	YLPM1	-	NULL		0.537	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75248736	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A
YWHAZ	7534	genome.wustl.edu	37	8	101932975	101932975	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:101932975C>G	ENST00000395957.2	-	7	1025	c.684G>C	c.(682-684)tgG>tgC	p.W228C	YWHAZ_ENST00000457309.1_Missense_Mutation_p.W228C|YWHAZ_ENST00000521309.1_Missense_Mutation_p.W108C|YWHAZ_ENST00000395958.2_Missense_Mutation_p.W228C|YWHAZ_ENST00000395953.2_Missense_Mutation_p.W228C|YWHAZ_ENST00000395956.3_Missense_Mutation_p.W228C|YWHAZ_ENST00000395951.3_Missense_Mutation_p.W228C|YWHAZ_ENST00000522542.1_Missense_Mutation_p.W153C|YWHAZ_ENST00000353245.3_Missense_Mutation_p.W228C|YWHAZ_ENST00000522819.1_Missense_Mutation_p.W108C|YWHAZ_ENST00000395948.2_Missense_Mutation_p.W151C|YWHAZ_ENST00000419477.2_Missense_Mutation_p.W228C			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	228					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TATCCGATGTCCACAACTGGT	0.448																																																	0													67.0	74.0	72.0					8																	101932975		2203	4300	6503	SO:0001583	missense	7534			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.684G>C	8.37:g.101932975C>G	ENSP00000379287:p.Trp228Cys		A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.W228C	ENST00000395957.2	37	c.684	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010929	0.75046	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.6	4.6	0.57074	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.64402	D	0.000007	D	0.89012	0.6594	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92685	0.6161	10	0.87932	D	0	.	17.828	0.88672	0.0:1.0:0.0:0.0	.	228	P63104	1433Z_HUMAN	C	228;228;228;228;228;153;108;151;108;228;151;228;228;236	ENSP00000379287:W228C;ENSP00000398599:W228C;ENSP00000379288:W228C;ENSP00000379286:W228C;ENSP00000309503:W228C;ENSP00000430072:W153C;ENSP00000429623:W108C;ENSP00000428775:W108C;ENSP00000379283:W228C;ENSP00000379278:W151C;ENSP00000379281:W228C;ENSP00000395114:W228C;ENSP00000430058:W236C	ENSP00000309503:W228C	W	-	3	0	YWHAZ	102002151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.278000	0.76064	0.580000	0.79431	TGG	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.448	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	C	NM_145690		101932975	-1	no_errors	ENST00000353245	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBTB11	27107	genome.wustl.edu	37	3	101384145	101384145	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:101384145C>G	ENST00000312938.4	-	4	1866	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	429					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(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTTATTTTCTCTGTTGTTTGA	0.353																																																	0													80.0	84.0	83.0					3																	101384145		2203	4299	6502	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1286G>C	3.37:g.101384145C>G	ENSP00000326200:p.Arg429Thr		Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R429T	ENST00000312938.4	37	c.1286	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	C	1.449	-0.565509	0.03939	.	.	ENSG00000066422	ENST00000312938	T	0.10668	2.85	5.6	-1.79	0.07932	.	0.827409	0.11737	N	0.534348	T	0.06600	0.0169	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36212	-0.9757	10	0.33940	T	0.23	-0.8551	6.6603	0.23011	0.0:0.5038:0.1096:0.3866	.	429	O95625	ZBT11_HUMAN	T	429	ENSP00000326200:R429T	ENSP00000326200:R429T	R	-	2	0	ZBTB11	102866835	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.026000	0.12392	-0.409000	0.07553	-0.165000	0.13383	AGA	ZBTB11	-	NULL		0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	C	NM_014415		101384145	-1	no_errors	ENST00000312938	ensembl	human	known	70_37	missense	SNP	0.001	G
ZBTB46	140685	genome.wustl.edu	37	20	62378450	62378450	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr20:62378450G>C	ENST00000245663.4	-	5	1753	c.1603C>G	c.(1603-1605)Ctg>Gtg	p.L535V	ZBTB46_ENST00000302995.2_Missense_Mutation_p.L535V|RP4-583P15.10_ENST00000433905.2_RNA|ZBTB46_ENST00000395104.1_Missense_Mutation_p.L535V|RP4-583P15.10_ENST00000447343.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	535					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGGTCCTCCAGATAGGGCCCG	0.721																																																	0													25.0	26.0	25.0					20																	62378450		2200	4295	6495	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1603C>G	20.37:g.62378450G>C	ENSP00000245663:p.Leu535Val		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L535V	ENST00000245663.4	37	c.1603	CCDS13538.1	20	.	.	.	.	.	.	.	.	.	.	G	7.791	0.711621	0.15306	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.10382	2.88;2.88;2.88	4.19	1.99	0.26369	.	0.332441	0.26086	N	0.026439	T	0.05410	0.0143	L	0.27053	0.805	0.30360	N	0.783897	B	0.26363	0.147	B	0.26310	0.068	T	0.36383	-0.9750	10	0.02654	T	1	.	6.2871	0.21039	0.1151:0.0:0.6246:0.2603	.	535	Q86UZ6	ZBT46_HUMAN	V	535	ENSP00000245663:L535V;ENSP00000303102:L535V;ENSP00000378536:L535V	ENSP00000245663:L535V	L	-	1	2	ZBTB46	61848894	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	1.752000	0.38349	0.734000	0.32515	0.462000	0.41574	CTG	ZBTB46	-	NULL		0.721	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	G	NM_025224		62378450	-1	no_errors	ENST00000245663	ensembl	human	known	70_37	missense	SNP	0.986	C
ZBTB47	92999	genome.wustl.edu	37	3	42700652	42700652	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:42700652G>A	ENST00000232974.6	+	2	1086	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ZBTB47_ENST00000505904.1_5'UTR|ZBTB47_ENST00000457842.3_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	269	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TCTGGGCCGGGAGGACGGGCT	0.657																																																	0													20.0	29.0	27.0					3																	42700652		692	1591	2283	SO:0001583	missense	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.805G>A	3.37:g.42700652G>A	ENSP00000232974:p.Glu269Lys		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E269K	ENST00000232974.6	37	c.805	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173013	0.38413	.	.	ENSG00000114853	ENST00000232974;ENST00000542870	T	0.72394	-0.65	4.08	4.08	0.47627	.	0.709223	0.12254	N	0.485383	T	0.59307	0.2184	L	0.29908	0.895	0.80722	D	1	B	0.19200	0.034	B	0.15870	0.014	T	0.55554	-0.8123	10	0.41790	T	0.15	-12.836	12.0049	0.53252	0.0:0.0:0.827:0.173	.	269	F5H6L2	.	K	269	ENSP00000232974:E269K	ENSP00000232974:E269K	E	+	1	0	ZBTB47	42675656	0.953000	0.32496	0.999000	0.59377	0.029000	0.11900	1.204000	0.32296	2.259000	0.74868	0.542000	0.68232	GAG	ZBTB47	-	NULL		0.657	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42700652	+1	no_errors	ENST00000232974	ensembl	human	known	70_37	missense	SNP	0.973	A
ZBTB6	10773	genome.wustl.edu	37	9	125673272	125673272	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:125673272C>T	ENST00000373659.3	-	2	1168	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	360					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TAAATGTCTTCAAGCACACAG	0.448																																																	0													97.0	90.0	92.0					9																	125673272		2203	4300	6503	SO:0001819	synonymous_variant	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1080G>A	9.37:g.125673272C>T			A8K8N6	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L360	ENST00000373659.3	37	c.1080	CCDS6846.1	9																																																																																			ZBTB6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	C	NM_006626		125673272	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	silent	SNP	0.966	T
ZBTB7B	51043	genome.wustl.edu	37	1	154975263	154975263	+	Intron	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:154975263G>A	ENST00000368426.3	+	2	30				ZBTB7B_ENST00000417934.2_5'Flank|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Intron	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B						cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGGGCGGCGGAGGAGGAGCC	0.771																																																	0																																										SO:0001627	intron_variant	51043			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.-107-56G>A	1.37:g.154975263G>A			B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	RNA	SNP	-	NULL	ENST00000368426.3	37	NULL	CCDS1081.1	1																																																																																			ZBTB7B	-	-		0.771	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	G	NM_015872		154975263	+1	no_errors	ENST00000487542	ensembl	human	known	70_37	rna	SNP	1.000	A
ZC3H11A	9877	genome.wustl.edu	37	1	203819566	203819566	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:203819566G>C	ENST00000545588.1	+	15	5766				ZC3H11A_ENST00000332127.4_Intron|ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000367210.1_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGGAGTTTTGATATTTTATT	0.348																																																	0																																										SO:0001627	intron_variant	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1940-77G>C	1.37:g.203819566G>C			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	RNA	SNP	-	NULL	ENST00000545588.1	37	NULL	CCDS30978.1	1																																																																																			ZC3H11A	-	-		0.348	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	G	NM_014827		203819566	+1	no_errors	ENST00000488411	ensembl	human	known	70_37	rna	SNP	0.000	C
ZEB1	6935	genome.wustl.edu	37	10	31815698	31815698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:31815698C>T	ENST00000320985.10	+	9	2991	c.2881C>T	c.(2881-2883)Caa>Taa	p.Q961*	ZEB1_ENST00000361642.5_Nonsense_Mutation_p.Q962*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.Q941*|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.Q945*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.Q894*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	961					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCCCTATCAATGTGACAA	0.403																																					Ovarian(40;423 959 14296 36701 49589)												0													102.0	90.0	94.0					10																	31815698		2203	4300	6503	SO:0001587	stop_gained	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2881C>T	10.37:g.31815698C>T	ENSP00000319248:p.Gln961*		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.Q962*	ENST00000320985.10	37	c.2884	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	38	7.266983	0.98175	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	.	.	.	5.24	5.24	0.73138	.	0.483231	0.19479	N	0.113279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.3988	18.822	0.92100	0.0:1.0:0.0:0.0	.	.	.	.	X	743;961;962;956;894;961;941;852;945	.	ENSP00000319248:Q961X	Q	+	1	0	ZEB1	31855704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.470000	0.83445	0.585000	0.79938	CAA	ZEB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	C	NM_030751		31815698	+1	no_errors	ENST00000361642	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZEB2	9839	genome.wustl.edu	37	2	145147383	145147383	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr2:145147383C>T	ENST00000558170.2	-	10	4464	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1094	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E1094K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCGCGCCTCGCGCTCCGCC	0.617																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	cervix(1)											48.0	49.0	48.0					2																	145147383		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3280G>A	2.37:g.145147383C>T	ENSP00000454157:p.Glu1094Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1094K	ENST00000558170.2	37	c.3280	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.783312	0.96937	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14144	2.53;2.53;2.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;B;B	0.83275	0.996;0.444;0.444	T	0.08743	-1.0707	10	0.87932	D	0	-12.297	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1070;1093;1094	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1070;1094;1094	ENSP00000443792:E1070K;ENSP00000302501:E1094K;ENSP00000386854:E1094K	ENSP00000302501:E1094K	E	-	1	0	ZEB2	144863853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL		0.617	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147383	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFHX3	463	genome.wustl.edu	37	16	72984640	72984640	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:72984640C>T	ENST00000268489.5	-	3	3616	c.2944G>A	c.(2944-2946)Gac>Aac	p.D982N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D68N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	982					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGTATGAGTCCCCCATCACC	0.587																																																	0													139.0	120.0	126.0					16																	72984640		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2944G>A	16.37:g.72984640C>T	ENSP00000268489:p.Asp982Asn		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D982N	ENST00000268489.5	37	c.2944	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421169	0.83559	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.61510	0.1;0.1	5.22	5.22	0.72569	Zinc finger, U1-type (1);	0.000000	0.52532	D	0.000070	T	0.70064	0.3181	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68243	-0.5460	10	0.38643	T	0.18	.	18.7869	0.91959	0.0:1.0:0.0:0.0	.	982	Q15911	ZFHX3_HUMAN	N	982;68	ENSP00000268489:D982N;ENSP00000438926:D68N	ENSP00000268489:D982N	D	-	1	0	ZFHX3	71542141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.419000	0.82065	0.655000	0.94253	GAC	ZFHX3	-	smart_Znf_U1		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72984640	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77767390	77767390	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:77767390G>C	ENST00000521891.2	+	10	8681	c.8233G>C	c.(8233-8235)Gag>Cag	p.E2745Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2700Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2719Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2700Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2700					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTATCAAGTGAGAATGAATT	0.388										HNSCC(33;0.089)																																							0													69.0	68.0	68.0					8																	77767390		1859	4106	5965	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8233G>C	8.37:g.77767390G>C	ENSP00000430497:p.Glu2745Gln		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E2745Q	ENST00000521891.2	37	c.8233	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415978	0.25552	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.76;0.72;0.72	5.13	5.13	0.70059	.	0.000000	0.44902	U	0.000408	T	0.63271	0.2497	L	0.46157	1.445	0.80722	D	1	D;D;D	0.56968	0.962;0.978;0.978	P;P;D	0.70935	0.767;0.883;0.971	T	0.61763	-0.6996	10	0.48119	T	0.1	.	18.7617	0.91855	0.0:0.0:1.0:0.0	.	2700;2700;2745	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	2745;2729;2700;2700;2719	ENSP00000430497:E2745Q;ENSP00000399605:E2700Q;ENSP00000050961:E2700Q;ENSP00000430848:E2719Q	ENSP00000050961:E2700Q	E	+	1	0	ZFHX4	77929945	1.000000	0.71417	0.980000	0.43619	0.044000	0.14063	9.657000	0.98554	2.675000	0.91044	0.555000	0.69702	GAG	ZFHX4	-	NULL		0.388	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77767390	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFP90	146198	genome.wustl.edu	37	16	68592277	68592277	+	Intron	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:68592277G>C	ENST00000570495.1	+	4	452				ZFP90_ENST00000398253.2_Intron|ZFP90_ENST00000564323.1_Intron|ZFP90_ENST00000563169.2_Intron|ZFP90_ENST00000570884.1_Intron			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein						negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTTTCCTTCAGAGTTCCTGAG	0.398																																																	0																																										SO:0001627	intron_variant	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.161-99G>C	16.37:g.68592277G>C			B2RU00|B3KVE7|Q49AD1|Q96MQ6	Splice_Site	SNP	-	e3-1	ENST00000570495.1	37	c.161-1	CCDS42183.1	16																																																																																			ZFP90	-	-		0.398	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	G	XM_085375		68592277	+1	no_errors	ENST00000564558	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ZFPM1	161882	genome.wustl.edu	37	16	88599036	88599036	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:88599036G>A	ENST00000319555.3	+	8	1283	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	321					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGCCCTTCGTGTGCCTGAT	0.677																																					Pancreas(49;850 1106 29641 32847 38344)												0													31.0	29.0	30.0					16																	88599036		2186	4290	6476	SO:0001583	missense	161882			AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.961G>A	16.37:g.88599036G>A	ENSP00000326630:p.Val321Met			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V321M	ENST00000319555.3	37	c.961	CCDS32502.1	16	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597528	0.87055	.	.	ENSG00000179588	ENST00000319555	T	0.18657	2.2	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.072508	0.53938	U	0.000047	T	0.41719	0.1171	L	0.55213	1.73	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.30504	-0.9976	10	0.52906	T	0.07	-10.5681	16.1519	0.81629	0.0:0.0:1.0:0.0	.	321	Q8IX07	FOG1_HUMAN	M	321	ENSP00000326630:V321M	ENSP00000326630:V321M	V	+	1	0	ZFPM1	87126537	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.067000	0.76741	2.121000	0.65114	0.306000	0.20318	GTG	ZFPM1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM1	HGNC	protein_coding	OTTHUMT00000422270.2	G			88599036	+1	no_errors	ENST00000319555	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFYVE9	9372	genome.wustl.edu	37	1	52798442	52798442	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr1:52798442G>C	ENST00000371591.1	+	13	3572	c.3441G>C	c.(3439-3441)atG>atC	p.M1147I	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.M1088I|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.M1147I	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1147					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATTGCAGATGATGAAAGCCA	0.408																																																	0													82.0	75.0	78.0					1																	52798442		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3441G>C	1.37:g.52798442G>C	ENSP00000360647:p.Met1147Ile		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.M1147I	ENST00000371591.1	37	c.3441	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797914	0.50208	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.37235	1.31;1.21;1.21	4.83	4.83	0.62350	Domain of unknown function DUF3480 (1);	0.125321	0.52532	D	0.000075	T	0.28896	0.0717	L	0.31065	0.9	0.52501	D	0.999957	B;B	0.33171	0.4;0.001	B;B	0.26969	0.075;0.026	T	0.17198	-1.0377	10	0.66056	D	0.02	.	18.1117	0.89538	0.0:0.0:1.0:0.0	.	1088;1147	O95405-2;O95405	.;ZFYV9_HUMAN	I	1088;1147;1147	ENSP00000349737:M1088I;ENSP00000287727:M1147I;ENSP00000360647:M1147I	ENSP00000287727:M1147I	M	+	3	0	ZFYVE9	52571030	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.114000	0.71560	2.518000	0.84900	0.557000	0.71058	ATG	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.408	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	G	NM_007324		52798442	+1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	C
ZKSCAN5	23660	genome.wustl.edu	37	7	99104013	99104013	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:99104013G>A	ENST00000394170.2	+	2	597	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E116K|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E116K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	116	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACATCACCCTGAAAGTGGAGA	0.532																																																	0													71.0	73.0	72.0					7																	99104013		2203	4300	6503	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.346G>A	7.37:g.99104013G>A	ENSP00000377725:p.Glu116Lys		A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E116K	ENST00000394170.2	37	c.346	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734764	0.69189	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170;ENST00000439985	T;T;T	0.04551	3.6;3.6;3.6	4.93	2.13	0.27403	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.132235	0.34338	N	0.004054	T	0.04634	0.0126	L	0.47190	1.495	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.01	T	0.36163	-0.9759	10	0.37606	T	0.19	.	5.2894	0.15719	0.1823:0.1671:0.6506:0.0	.	116;116	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	116;116;116;116;64	ENSP00000322872:E116K;ENSP00000392104:E116K;ENSP00000377725:E116K	ENSP00000322872:E116K	E	+	1	0	ZKSCAN5	98941949	0.995000	0.38212	0.003000	0.11579	0.862000	0.49288	2.670000	0.46833	0.368000	0.24481	0.561000	0.74099	GAA	ZKSCAN5	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.532	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	G	NM_014569		99104013	+1	no_errors	ENST00000326775	ensembl	human	known	70_37	missense	SNP	0.023	A
ZNF100	163227	genome.wustl.edu	37	19	21909817	21909817	+	Missense_Mutation	SNP	C	C	G	rs368185825		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:21909817C>G	ENST00000358296.6	-	5	1495	c.1297G>C	c.(1297-1299)Gaa>Caa	p.E433Q	ZNF100_ENST00000305570.6_Missense_Mutation_p.E369Q	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTGCCACATTCTTCACATTTG	0.403																																																	0								C	GLN/GLU	0,4388		0,0,2194	66.0	73.0	71.0		1297	-1.6	0.3	19		71	1,8591		0,1,4295	no	missense	ZNF100	NM_173531.3	29	0,1,6489	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	433/543	21909817	1,12979	2194	4296	6490	SO:0001583	missense	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1297G>C	19.37:g.21909817C>G	ENSP00000351042:p.Glu433Gln		Q7M4M0	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.E433Q	ENST00000358296.6	37	c.1297	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	0.567	-0.842832	0.02671	0.0	1.16E-4	ENSG00000197020	ENST00000358296	T	0.07444	3.19	0.801	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	L	0.35542	1.07	0.09310	N	1	B;P	0.35468	0.353;0.503	B;B	0.34346	0.129;0.18	T	0.36792	-0.9733	9	0.59425	D	0.04	.	7.3044	0.26438	0.0:0.7247:0.2752:0.0	.	433;487	Q8IYN0;Q4G131	ZN100_HUMAN;.	Q	433	ENSP00000351042:E433Q	ENSP00000351042:E433Q	E	-	1	0	ZNF100	21701657	0.000000	0.05858	0.271000	0.24616	0.272000	0.26649	-1.803000	0.01740	0.170000	0.19704	0.173000	0.16961	GAA	ZNF100	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	C	NM_173531		21909817	-1	no_errors	ENST00000358296	ensembl	human	known	70_37	missense	SNP	0.043	G
ZNF131	7690	genome.wustl.edu	37	5	43161601	43161601	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:43161601G>A	ENST00000399534.1	+	5	666	c.622G>A	c.(622-624)Gat>Aat	p.D208N	ZNF131_ENST00000509634.1_Missense_Mutation_p.D208N|ZNF131_ENST00000509156.1_Missense_Mutation_p.D208N|ZNF131_ENST00000306938.4_Missense_Mutation_p.D208N|ZNF131_ENST00000505606.2_Missense_Mutation_p.D208N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	208					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTCCTCTGATGATTCTGCTCT	0.478																																																	0													69.0	64.0	65.0					5																	43161601		1919	4136	6055	SO:0001583	missense	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.622G>A	5.37:g.43161601G>A	ENSP00000382450:p.Asp208Asn		B4DRL3|Q6PIF0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D208N	ENST00000399534.1	37	c.622		5	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023906	0.93462	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.42	5.42	0.78866	.	0.051433	0.85682	D	0.000000	T	0.78233	0.4251	N	0.24115	0.695	0.58432	D	0.999998	P;D	0.57257	0.651;0.979	B;P	0.56563	0.212;0.801	T	0.78051	-0.2355	10	0.38643	T	0.18	-18.3385	18.8273	0.92123	0.0:0.0:1.0:0.0	.	208;208	P52739;P52739-2	ZN131_HUMAN;.	N	208	ENSP00000422079:D208N;ENSP00000426504:D208N;ENSP00000305804:D208N;ENSP00000382450:D208N;ENSP00000423945:D208N;ENSP00000421246:D208N	ENSP00000305804:D208N	D	+	1	0	ZNF131	43197358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.232000	0.95325	2.545000	0.85829	0.650000	0.86243	GAT	ZNF131	-	NULL		0.478	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	G	NM_003432		43161601	+1	no_errors	ENST00000399534	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF14	7561	genome.wustl.edu	37	19	19822546	19822546	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:19822546G>C	ENST00000344099.3	-	4	1682	c.1544C>G	c.(1543-1545)tCa>tGa	p.S515*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGGAACTTGAAAAACTGAA	0.393																																																	0													99.0	98.0	98.0					19																	19822546		2203	4300	6503	SO:0001587	stop_gained	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1544C>G	19.37:g.19822546G>C	ENSP00000340514:p.Ser515*		B9EGA4|Q9ULZ5	Nonsense_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.S515*	ENST00000344099.3	37	c.1544	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.489059	0.96323	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.8	-1.69	0.08186	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	2.0099	0.03485	0.3119:0.0:0.2541:0.434	.	.	.	.	X	515	.	ENSP00000340514:S515X	S	-	2	0	ZNF14	19683546	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-2.720000	0.00812	-0.039000	0.13602	0.467000	0.42956	TCA	ZNF14	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	G	NM_021030		19822546	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ZNF16	7564	genome.wustl.edu	37	8	146157669	146157669	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr8:146157669C>T	ENST00000276816.4	-	4	690	c.504G>A	c.(502-504)ctG>ctA	p.L168L	ZNF16_ENST00000394909.2_Silent_p.L168L	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	168	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GACATGCCATCAGGTTTGGGC	0.537																																																	0													161.0	155.0	157.0					8																	146157669		2203	4300	6503	SO:0001819	synonymous_variant	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.504G>A	8.37:g.146157669C>T			B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L168	ENST00000276816.4	37	c.504	CCDS6437.1	8																																																																																			ZNF16	-	NULL		0.537	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	C	NM_006958		146157669	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF271	10778	genome.wustl.edu	37	18	32890708	32890708	+	RNA	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:32890708C>T	ENST00000399070.3	+	0	5102					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						Atcatttattcaataaatatt	0.443																																																	0																																												10778			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32890708C>T			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-		0.443	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	C	NR_024565		32890708	+1	no_errors	ENST00000399070	ensembl	human	known	70_37	rna	SNP	0.001	T
ZNF236	7776	genome.wustl.edu	37	18	74593330	74593330	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr18:74593330C>G	ENST00000253159.8	+	9	1471	c.1273C>G	c.(1273-1275)Caa>Gaa	p.Q425E	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q427E	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	425					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACCACACGCTCAAAACCCAGA	0.488																																																	0													92.0	95.0	94.0					18																	74593330		1983	4185	6168	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1273C>G	18.37:g.74593330C>G	ENSP00000253159:p.Gln425Glu		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q425E	ENST00000253159.8	37	c.1273	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	7.270	0.606969	0.14002	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11063	2.81;3.0	4.8	3.91	0.45181	.	0.564552	0.17501	N	0.171997	T	0.12347	0.0300	L	0.60455	1.87	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.22626	-1.0211	10	0.18710	T	0.47	.	13.0756	0.59085	0.0:0.6921:0.3078:0.0	.	425;425	Q9NWI2;Q9UL36	.;ZN236_HUMAN	E	425	ENSP00000253159:Q425E;ENSP00000444524:Q425E	ENSP00000253159:Q425E	Q	+	1	0	ZNF236	72722318	0.012000	0.17670	0.000000	0.03702	0.026000	0.11368	2.500000	0.45381	1.125000	0.41998	0.557000	0.71058	CAA	ZNF236	-	NULL		0.488	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74593330	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF365	22891	genome.wustl.edu	37	10	64162065	64162065	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr10:64162065C>G	ENST00000395254.3	+	0	4021				ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGTTCTTATCTGCAAGGTTC	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.*2517C>G	10.37:g.64162065C>G				RNA	SNP	-	NULL	ENST00000395254.3	37	NULL	CCDS31209.1	10																																																																																			ZNF365	-	-		0.363	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	C	NM_014951		64162065	+1	no_errors	ENST00000466727	ensembl	human	known	70_37	rna	SNP	0.016	G
ZNF382	84911	genome.wustl.edu	37	19	37118330	37118330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:37118330C>T	ENST00000292928.2	+	5	1644	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	ZNF382_ENST00000423582.1_Nonsense_Mutation_p.Q462*|ZNF382_ENST00000439428.1_Nonsense_Mutation_p.Q510*|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Nonsense_Mutation_p.Q510*	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	511	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTCGCCATCAGAAAACTCA	0.418																																																	0													76.0	78.0	77.0					19																	37118330		2203	4300	6503	SO:0001587	stop_gained	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1531C>T	19.37:g.37118330C>T	ENSP00000292928:p.Gln511*		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Nonsense_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.Q511*	ENST00000292928.2	37	c.1531	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	C	48	14.906118	0.99815	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	.	.	.	4.27	4.27	0.50696	.	0.000000	0.41097	D	0.000948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.5487	0.68050	0.0:1.0:0.0:0.0	.	.	.	.	X	462;511;510;510	.	ENSP00000292928:Q511X	Q	+	1	0	ZNF382	41810170	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.096000	0.15147	2.375000	0.81037	0.591000	0.81541	CAG	ZNF382	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	C	NM_032825		37118330	+1	no_errors	ENST00000292928	ensembl	human	known	70_37	nonsense	SNP	0.998	T
ZNF394	84124	genome.wustl.edu	37	7	99091372	99091372	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:99091372C>T	ENST00000337673.6	-	3	1669	c.1466G>A	c.(1465-1467)aGa>aAa	p.R489K	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	489					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGTGTGGATTCTGTGGTGTTT	0.458																																					Ovarian(24;589 697 9939 12704 40742)												0													119.0	115.0	116.0					7																	99091372		2203	4300	6503	SO:0001583	missense	84124			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1466G>A	7.37:g.99091372C>T	ENSP00000337363:p.Arg489Lys		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R489K	ENST00000337673.6	37	c.1466	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863029	0.71949	.	.	ENSG00000160908	ENST00000337673	T	0.18338	2.22	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000057	T	0.14184	0.0343	N	0.20610	0.595	0.80722	D	1	B	0.27656	0.184	B	0.40901	0.343	T	0.09552	-1.0669	10	0.46703	T	0.11	.	7.061	0.25125	0.0:0.8791:0.0:0.1209	.	489	Q53GI3	ZN394_HUMAN	K	489	ENSP00000337363:R489K	ENSP00000337363:R489K	R	-	2	0	ZNF394	98929308	0.000000	0.05858	0.983000	0.44433	0.865000	0.49528	0.549000	0.23329	2.292000	0.77174	0.655000	0.94253	AGA	ZNF394	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	C	NM_032164		99091372	-1	no_errors	ENST00000337673	ensembl	human	known	70_37	missense	SNP	0.992	T
ZNF462	58499	genome.wustl.edu	37	9	109688129	109688129	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:109688129G>T	ENST00000277225.5	+	3	2225	c.1936G>T	c.(1936-1938)Gac>Tac	p.D646Y	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.D646Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	646					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATGAGACAGACAGCCACCC	0.463																																																	0													220.0	230.0	227.0					9																	109688129		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1936G>T	9.37:g.109688129G>T	ENSP00000277225:p.Asp646Tyr		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D646Y	ENST00000277225.5	37	c.1936	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513728	0.64522	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.09350	2.99;3.42	5.48	5.48	0.80851	.	0.239831	0.49305	D	0.000155	T	0.23171	0.0560	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.964	D;P	0.65874	0.939;0.65	T	0.00342	-1.1803	9	.	.	.	.	17.8902	0.88870	0.0:0.0:1.0:0.0	.	646;646	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Y	646	ENSP00000277225:D646Y;ENSP00000414570:D646Y	.	D	+	1	0	ZNF462	108727950	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.363000	0.79516	2.731000	0.93534	0.650000	0.86243	GAC	ZNF462	-	NULL		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	G	NM_021224		109688129	+1	no_errors	ENST00000457913	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF483	158399	genome.wustl.edu	37	9	114304895	114304895	+	Silent	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:114304895C>T	ENST00000309235.5	+	6	1838	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAAAATCCTTCAGTCATAGCT	0.408																																																	0													60.0	67.0	64.0					9																	114304895		2202	4300	6502	SO:0001819	synonymous_variant	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1680C>T	9.37:g.114304895C>T			Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F560	ENST00000309235.5	37	c.1680	CCDS35106.1	9																																																																																			ZNF483	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	C	XM_088567		114304895	+1	no_errors	ENST00000309235	ensembl	human	known	70_37	silent	SNP	0.998	T
ZNF536	9745	genome.wustl.edu	37	19	30936474	30936474	+	Missense_Mutation	SNP	G	G	A	rs573832117		TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:30936474G>A	ENST00000355537.3	+	2	2152	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	669					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGGGCCTGGATGAGCGGCG	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14931	0.0		0.0	False		,,,				2504	0.0																0													39.0	44.0	42.0					19																	30936474		2203	4298	6501	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2005G>A	19.37:g.30936474G>A	ENSP00000347730:p.Asp669Asn		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D669N	ENST00000355537.3	37	c.2005	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073174	0.55646	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.42	5.42	0.78866	.	0.322034	0.35838	N	0.002960	T	0.09818	0.0241	N	0.19112	0.55	0.53005	D	0.99996	P;P	0.41366	0.747;0.747	B;B	0.40375	0.327;0.327	T	0.33085	-0.9882	10	0.22109	T	0.4	-14.3077	19.2151	0.93774	0.0:0.0:1.0:0.0	.	669;669	A7E228;O15090	.;ZN536_HUMAN	N	669	ENSP00000347730:D669N	ENSP00000347730:D669N	D	+	1	0	ZNF536	35628314	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	9.378000	0.97191	2.509000	0.84616	0.655000	0.94253	GAT	ZNF536	-	NULL		0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		30936474	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF544	27300	genome.wustl.edu	37	19	58772988	58772988	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:58772988C>T	ENST00000596652.1	+	6	1250	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	ZNF544_ENST00000599953.1_Missense_Mutation_p.S197L|ZNF544_ENST00000600044.1_Missense_Mutation_p.S311L|ZNF544_ENST00000415203.2_Missense_Mutation_p.S311L|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.S311L|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.S339L|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S339L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CCCATGGCCTCATCTTTTTCT	0.473																																																	1	Substitution - Missense(1)	urinary_tract(1)											84.0	78.0	80.0					19																	58772988		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1016C>T	19.37:g.58772988C>T	ENSP00000469635:p.Ser339Leu		A8K6J1|Q9UEX4	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.S339L	ENST00000596652.1	37	c.1016	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583075	0.28268	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.17691	2.26;2.26	2.98	0.554	0.17241	.	.	.	.	.	T	0.14787	0.0357	L	0.59436	1.845	0.09310	N	1	P;B;B	0.43477	0.808;0.273;0.225	B;B;B	0.39590	0.304;0.067;0.067	T	0.18366	-1.0339	9	0.52906	T	0.07	.	3.5637	0.07892	0.367:0.4958:0.0:0.1372	.	311;311;339	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	L	339;311;3	ENSP00000269829:S339L;ENSP00000394341:S311L	ENSP00000269829:S339L	S	+	2	0	ZNF544	63464800	0.018000	0.18449	0.149000	0.22428	0.112000	0.19704	1.340000	0.33896	0.599000	0.29845	-0.126000	0.14955	TCA	ZNF544	-	NULL		0.473	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	C	NM_014480		58772988	+1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF622	90441	genome.wustl.edu	37	5	16465642	16465642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr5:16465642C>A	ENST00000308683.2	-	1	259	c.133G>T	c.(133-135)Gag>Tag	p.E45*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	45					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGGAAGCCCTCGGCGGTCACT	0.677																																																	0													38.0	39.0	39.0					5																	16465642		2202	4299	6501	SO:0001587	stop_gained	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.133G>T	5.37:g.16465642C>A	ENSP00000310042:p.Glu45*			Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.E45*	ENST00000308683.2	37	c.133	CCDS3886.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.651571	0.98412	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.4199	18.2346	0.89946	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000310042:E45X	E	-	1	0	ZNF622	16518642	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.516000	0.81772	2.520000	0.84964	0.650000	0.86243	GAG	ZNF622	-	NULL		0.677	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF622	HGNC	protein_coding	OTTHUMT00000207105.1	C	NM_033414		16465642	-1	no_errors	ENST00000308683	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZNF658	26149	genome.wustl.edu	37	9	40768503	40768503	+	IGR	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr9:40768503C>T	ENST00000602553.1	-	0	4155							Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		actatactcacgttcctttgg	0.443																																																	0																																										SO:0001628	intergenic_variant	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392		9.37:g.40768503C>T			Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Splice_Site	SNP	-	e5+1	ENST00000602553.1	37	c.1854+1	CCDS35023.1	9																																																																																			ZNF658	-	-		0.443	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	C	NM_033160		40768503	-1	no_errors	ENST00000479710	ensembl	human	known	70_37	splice_site	SNP	0.039	T
ZNF668	79759	genome.wustl.edu	37	16	31075397	31075397	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr16:31075397G>A	ENST00000538906.1	-	2	1168	c.384C>T	c.(382-384)cgC>cgT	p.R128R	ZNF668_ENST00000535577.1_Silent_p.R128R|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000426488.2_Silent_p.R151R|ZNF668_ENST00000539836.3_Silent_p.R151R|ZNF668_ENST00000394983.2_Silent_p.R128R|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000300849.4_Silent_p.R128R	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCAGGTGCACGCGCAGGCACA	0.716																																					Colon(181;1111 1980 5060 10512 25785)												0													23.0	22.0	22.0					16																	31075397		2195	4296	6491	SO:0001819	synonymous_variant	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.384C>T	16.37:g.31075397G>A			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R151	ENST00000538906.1	37	c.453	CCDS10701.1	16																																																																																			ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.716	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	G	NM_024706		31075397	-1	no_errors	ENST00000426488	ensembl	human	known	70_37	silent	SNP	0.527	A
ZNF674	641339	genome.wustl.edu	37	X	46359523	46359523	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chrX:46359523C>T	ENST00000523374.1	-	6	1711	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Missense_Mutation_p.D495N	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	501					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)	2						TTTTTACAGTCAGTGCATTCA	0.398																																																	0													72.0	66.0	68.0					X																	46359523		2173	4281	6454	SO:0001583	missense	641339			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1501G>A	X.37:g.46359523C>T	ENSP00000429148:p.Asp501Asn		B4DHE2|E9PHQ4	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.D501N	ENST00000523374.1	37	c.1501	CCDS48099.1	X	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821302	0.16678	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.07327	3.2;3.2	2.33	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	L	0.28274	0.84	0.09310	N	0.999999	B;P	0.45768	0.001;0.866	B;P	0.45794	0.002;0.493	T	0.29119	-1.0022	9	0.62326	D	0.03	.	6.7873	0.23679	0.0:0.8395:0.0:0.1605	.	495;501	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	N	501;495	ENSP00000429148:D501N;ENSP00000428248:D495N	ENSP00000428248:D495N	D	-	1	0	ZNF674	46244467	0.000000	0.05858	0.933000	0.37362	0.425000	0.31504	-0.404000	0.07205	0.434000	0.26340	0.529000	0.55759	GAC	ZNF674	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	HGNC	protein_coding	OTTHUMT00000056357.2	C	NM_001039891		46359523	-1	no_errors	ENST00000523374	ensembl	human	known	70_37	missense	SNP	0.595	T
ZNF714	148206	genome.wustl.edu	37	19	21300302	21300302	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:21300302C>G	ENST00000596143.1	+	5	1157	c.832C>G	c.(832-834)Cat>Gat	p.H278D	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAGTTCATTCATGTTAAAGA	0.348																																																	0													25.0	27.0	26.0					19																	21300302		2168	4283	6451	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.832C>G	19.37:g.21300302C>G	ENSP00000472368:p.His278Asp		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H278D	ENST00000596143.1	37	c.832	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	14.50	2.554411	0.45487	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82061	0.4955	H	0.95712	3.71	0.36578	D	0.873404	D;D;D	0.76494	0.998;0.963;0.999	D;P;D	0.91635	0.999;0.802;0.998	D	0.84583	0.0662	8	0.87932	D	0	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	279;278;279	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	D	278	.	ENSP00000291770:H278D	H	+	1	0	ZNF714	21092142	0.966000	0.33281	0.005000	0.12908	0.005000	0.04900	3.320000	0.51991	0.446000	0.26666	0.449000	0.29647	CAT	ZNF714	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	C	NM_182515		21300302	+1	no_errors	ENST00000596143	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF677	342926	genome.wustl.edu	37	19	53741588	53741588	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:53741588C>G	ENST00000598513.1	-	5	542	c.392G>C	c.(391-393)aGa>aCa	p.R131T	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.R131T	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R131K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTGATCTTTTCTGTGAGTGAG	0.358																																																	1	Substitution - Missense(1)	urinary_tract(1)											147.0	141.0	143.0					19																	53741588		2203	4299	6502	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.392G>C	19.37:g.53741588C>G	ENSP00000469391:p.Arg131Thr			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.R131T	ENST00000598513.1	37	c.392	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	C	7.207	0.594595	0.13875	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07688	3.17	2.29	2.29	0.28610	.	0.775970	0.10693	N	0.644974	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.46850	0.529	T	0.37820	-0.9689	10	0.27785	T	0.31	.	10.6967	0.45903	0.0:1.0:0.0:0.0	.	131	Q86XU0	ZN677_HUMAN	T	131	ENSP00000334394:R131T	ENSP00000334394:R131T	R	-	2	0	ZNF677	58433400	0.000000	0.05858	0.090000	0.20809	0.074000	0.17049	-0.097000	0.11042	1.592000	0.50018	0.655000	0.94253	AGA	ZNF677	-	NULL		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	C	NM_182609		53741588	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	missense	SNP	0.118	G
ZNF732	654254	genome.wustl.edu	37	4	266185	266185	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr4:266185G>C	ENST00000419098.1	-	4	471	c.461C>G	c.(460-462)tCa>tGa	p.S154*		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						GTTTGAATTTGAAAATGTACT	0.338																																																	0													180.0	147.0	157.0					4																	266185		692	1591	2283	SO:0001587	stop_gained	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.461C>G	4.37:g.266185G>C	ENSP00000415774:p.Ser154*			Nonsense_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.S154*	ENST00000419098.1	37	c.461	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	7.431	0.638709	0.14386	.	.	ENSG00000186777	ENST00000419098	.	.	.	0.946	-0.719	0.11201	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.735	0.08507	0.3365:0.0:0.6635:0.0	.	.	.	.	X	154	.	ENSP00000415774:S154X	S	-	2	0	ZNF732	256185	0.009000	0.17119	0.003000	0.11579	0.003000	0.03518	1.224000	0.32539	-0.503000	0.06586	-0.498000	0.04607	TCA	ZNF732	-	NULL		0.338	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	G	NM_001137608		266185	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ZNF750	79755	genome.wustl.edu	37	17	80790291	80790291	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr17:80790291A>C	ENST00000269394.3	-	2	873	c.40T>G	c.(40-42)Tac>Gac	p.Y14D	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	14					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGGGATGTAATGTGGCTTT	0.473																																																	0													81.0	88.0	86.0					17																	80790291		2199	4297	6496	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.40T>G	17.37:g.80790291A>C	ENSP00000269394:p.Tyr14Asp		Q9H899	Missense_Mutation	SNP	NULL	p.Y14D	ENST00000269394.3	37	c.40	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486721	0.84854	.	.	ENSG00000141579	ENST00000269394	T	0.58358	0.34	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000011	T	0.72244	0.3436	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73610	-0.3928	9	.	.	.	-33.9146	15.3545	0.74418	1.0:0.0:0.0:0.0	.	14	Q32MQ0	ZN750_HUMAN	D	14	ENSP00000269394:Y14D	.	Y	-	1	0	ZNF750	78383580	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	9.160000	0.94734	2.214000	0.71695	0.533000	0.62120	TAC	ZNF750	-	NULL		0.473	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	A	NM_024702		80790291	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF790	388536	genome.wustl.edu	37	19	37314690	37314690	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:37314690C>G	ENST00000356725.4	-	3	132	c.12G>C	c.(10-12)ttG>ttC	p.L4F	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAACATCATCAACTGTTGGA	0.403																																																	0													69.0	68.0	68.0					19																	37314690		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.12G>C	19.37:g.37314690C>G	ENSP00000349161:p.Leu4Phe			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.L4F	ENST00000356725.4	37	c.12	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275387	0.23307	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288;ENST00000527645	T;T;T;T	0.00922	5.54;5.54;5.54;5.54	3.53	2.48	0.30137	Krueppel-associated box (1);	.	.	.	.	T	0.03011	0.0089	M	0.67625	2.065	0.09310	N	1	D	0.69078	0.997	P	0.61397	0.888	T	0.42599	-0.9442	9	0.52906	T	0.07	.	6.1366	0.20237	0.0:0.8504:0.0:0.1496	.	4	Q6PG37	ZN790_HUMAN	F	4	ENSP00000349161:L4F;ENSP00000435944:L4F;ENSP00000433389:L4F;ENSP00000434537:L4F	ENSP00000349161:L4F	L	-	3	2	ZNF790	42006530	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	-0.138000	0.10374	0.779000	0.33543	0.585000	0.79938	TTG	ZNF790	-	superfamily_Krueppel-associated_box		0.403	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	C	NM_206894		37314690	-1	no_errors	ENST00000356725	ensembl	human	known	70_37	missense	SNP	0.037	G
ZNF761	388561	genome.wustl.edu	37	19	53958418	53958418	+	RNA	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:53958418G>A	ENST00000454407.1	+	0	1110							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATGTAATGAGAGTGGCAAAG	0.338																																																	0													102.0	105.0	104.0					19																	53958418		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958418G>A			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.338	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53958418	+1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.245	A
ZNF852	285346	genome.wustl.edu	37	3	44541845	44541845	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:44541845G>A	ENST00000436261.1	-	4	584	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	ZNF852_ENST00000489411.1_5'UTR			Q6ZMS4	ZN852_HUMAN	zinc finger protein 852	142						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|lung(5)	8						CTGGAAGACAGAGGTGGATGT	0.378																																																	0																																										SO:0001819	synonymous_variant	285346			BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917		"""Zinc fingers, C2H2-type"", ""-"""	27713	protein-coding gene	gene with protein product							Standard	NM_001287349		Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.424C>T	3.37:g.44541845G>A			B4DLD7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L142	ENST00000436261.1	37	c.424		3																																																																																			ZNF852	-	NULL		0.378	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	ZNF852	HGNC	protein_coding	OTTHUMT00000344244.1	G	XM_001717402		44541845	-1	no_errors	ENST00000436261	ensembl	human	known	70_37	silent	SNP	0.001	A
ZNF80	7634	genome.wustl.edu	37	3	113955471	113955471	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:113955471G>A	ENST00000482457.2	-	1	954	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H151N(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTCACACGATGCTGGATGAAG	0.488																																					GBM(23;986 1114 21716)												1	Substitution - Missense(1)	lung(1)											87.0	90.0	89.0					3																	113955471		2203	4300	6503	SO:0001583	missense	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.451C>T	3.37:g.113955471G>A	ENSP00000417192:p.His151Tyr		Q6NSW4|Q6NT14	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H151Y	ENST00000482457.2	37	c.451	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337220	0.60963	.	.	ENSG00000174255	ENST00000482457	D	0.86769	-2.17	3.23	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93083	0.7798	M	0.87971	2.92	0.19945	N	0.999947	D	0.89917	1.0	D	0.97110	1.0	D	0.83658	0.0159	9	0.87932	D	0	.	8.7984	0.34894	0.1176:0.0:0.8824:0.0	.	151	P51504	ZNF80_HUMAN	Y	151	ENSP00000417192:H151Y	ENSP00000309812:H151Y	H	-	1	0	ZNF80	115438161	1.000000	0.71417	0.009000	0.14445	0.156000	0.22039	6.439000	0.73430	0.919000	0.36945	0.655000	0.94253	CAT	ZNF80	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	HGNC	protein_coding	OTTHUMT00000354696.2	G	NM_007136		113955471	-1	no_errors	ENST00000308095	ensembl	human	known	70_37	missense	SNP	0.580	A
ZNF880	400713	genome.wustl.edu	37	19	52887111	52887111	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:52887111C>T	ENST00000422689.2	+	4	293	c.278C>T	c.(277-279)tCt>tTt	p.S93F	ZNF880_ENST00000424032.2_3'UTR	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	93					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GAGAGCAGCTCTAAATTGGGA	0.408																																																	0													53.0	46.0	48.0					19																	52887111		692	1591	2283	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.278C>T	19.37:g.52887111C>T	ENSP00000406318:p.Ser93Phe		B4DNA6	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.S93F	ENST00000422689.2	37	c.278	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	C	1.629	-0.519379	0.04171	.	.	ENSG00000221923	ENST00000422689	T	0.06768	3.26	0.878	-1.76	0.08006	.	.	.	.	.	T	0.02455	0.0075	N	0.11818	0.18	0.09310	N	1	P	0.36647	0.563	B	0.20184	0.028	T	0.42649	-0.9439	9	0.09843	T	0.71	.	2.8955	0.05689	0.4237:0.3259:0.2505:0.0	.	93	Q6PDB4	ZN880_HUMAN	F	93	ENSP00000406318:S93F	ENSP00000406318:S93F	S	+	2	0	ZNF880	57578923	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.413000	0.07123	-1.282000	0.02396	-0.904000	0.02843	TCT	ZNF880	-	NULL		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	C	NM_001145434		52887111	+1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNRF2	223082	genome.wustl.edu	37	7	30402033	30402033	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr7:30402033G>C	ENST00000323037.4	+	4	1763	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	238						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ATCTTGCCCTGAGCACCCTTC	0.299																																																	0													92.0	95.0	94.0					7																	30402033		2203	4300	6503	SO:0001583	missense	223082			AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.712G>C	7.37:g.30402033G>C	ENSP00000323879:p.Glu238Gln			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E238Q	ENST00000323037.4	37	c.712	CCDS5426.1	7	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732371	0.48939	.	.	ENSG00000180233	ENST00000323037;ENST00000319243	.	.	.	5.2	5.2	0.72013	Zinc finger, RING-type (2);	0.081755	0.46758	U	0.000262	T	0.53948	0.1828	N	0.04787	-0.16	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65150	-0.6238	9	0.54805	T	0.06	-12.4019	17.7134	0.88328	0.0:0.0:1.0:0.0	.	238	Q8NHG8	ZNRF2_HUMAN	Q	238;176	.	ENSP00000326497:E176Q	E	+	1	0	ZNRF2	30368558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.845000	0.99498	2.419000	0.82065	0.585000	0.79938	GAG	ZNRF2	-	smart_Znf_RING,pfscan_Znf_RING		0.299	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF2	HGNC	protein_coding	OTTHUMT00000214992.1	G	NM_147128		30402033	+1	no_errors	ENST00000323037	ensembl	human	known	70_37	missense	SNP	1.000	C
ZPLD1	131368	genome.wustl.edu	37	3	102157389	102157389	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr3:102157389C>G	ENST00000491959.1	+	9	940	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	ZPLD1_ENST00000306176.1_Missense_Mutation_p.Q36E|ZPLD1_ENST00000466937.1_Missense_Mutation_p.Q20E			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	20						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GGGGTCTGCTCAGTTCAACGG	0.423																																																	0													137.0	123.0	128.0					3																	102157389		2203	4300	6503	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.58C>G	3.37:g.102157389C>G	ENSP00000420265:p.Gln20Glu		Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	p.Q36E	ENST00000491959.1	37	c.106		3	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158615	0.57368	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.80653	-1.38;-1.4;-1.38	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	L	0.36672	1.1	0.80722	D	1	P;P	0.37370	0.592;0.502	B;B	0.38500	0.275;0.187	T	0.72214	-0.4358	10	0.21540	T	0.41	-8.5124	18.2873	0.90118	0.0:1.0:0.0:0.0	.	36;20	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	E	20;36;20	ENSP00000420265:Q20E;ENSP00000307801:Q36E;ENSP00000418253:Q20E	ENSP00000307801:Q36E	Q	+	1	0	ZPLD1	103640079	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.472000	0.73567	2.316000	0.78162	0.591000	0.81541	CAG	ZPLD1	-	NULL		0.423	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	C	NM_175056		102157389	+1	no_errors	ENST00000306176	ensembl	human	known	70_37	missense	SNP	1.000	G
ZSCAN12	9753	genome.wustl.edu	37	6	28359508	28359508	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr6:28359508C>G	ENST00000361028.1	-	4	704	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E187Q			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						TTTCCAGTCTCAACATCTAAA	0.308																																																	0													10.0	7.0	8.0					6																	28359508		686	1554	2240	SO:0001583	missense	9753			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.559G>C	6.37:g.28359508C>G	ENSP00000354305:p.Glu187Gln		O43724	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E187Q	ENST00000361028.1	37	c.559		6	.	.	.	.	.	.	.	.	.	.	C	1.051	-0.675914	0.03378	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07114	3.22;3.22	3.44	2.56	0.30785	.	0.238222	0.21860	N	0.068058	T	0.00784	0.0026	N	0.03608	-0.345	0.25768	N	0.984869	B;B	0.33694	0.421;0.421	B;B	0.25291	0.041;0.059	T	0.44937	-0.9295	10	0.15952	T	0.53	.	5.7095	0.17927	0.0:0.7496:0.0:0.2504	.	187;187	A8K187;O43309	.;ZSC12_HUMAN	Q	187	ENSP00000354305:E187Q;ENSP00000380039:E187Q	ENSP00000354305:E187Q	E	-	1	0	ZSCAN12	28467487	0.014000	0.17966	0.952000	0.39060	0.351000	0.29236	-0.112000	0.10791	0.769000	0.33313	0.650000	0.86243	GAG	ZSCAN12	-	NULL		0.308	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	C	NM_014724		28359508	-1	no_errors	ENST00000361028	ensembl	human	known	70_37	missense	SNP	0.858	G
ZSCAN5B	342933	genome.wustl.edu	37	19	56701340	56701340	+	Silent	SNP	G	G	A			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56701340G>A	ENST00000586855.2	-	5	1657	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	ZSCAN5B_ENST00000358992.3_Silent_p.F448F			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	448					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTTGTGGCTGAAAACTTTGC	0.552																																																	0													91.0	91.0	91.0					19																	56701340		2074	4230	6304	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1344C>T	19.37:g.56701340G>A				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F448	ENST00000586855.2	37	c.1344	CCDS46203.1	19																																																																																			ZSCAN5B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	G	NM_001080456		56701340	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	silent	SNP	0.381	A
ZSCAN5B	342933	genome.wustl.edu	37	19	56701869	56701869	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BQ-01C-11D-A20U-09	TCGA-C5-A1BQ-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f36ad45-4cdb-48d3-b363-e52bcc64cb12	1fb15f75-d4fd-40f5-8fd1-3169149fbf40	g.chr19:56701869G>C	ENST00000586855.2	-	5	1128	c.815C>G	c.(814-816)tCt>tGt	p.S272C	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S272C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	272					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGCAGGCAGAAGGTGTGTC	0.522																																																	0													133.0	129.0	130.0					19																	56701869		2203	4300	6503	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.815C>G	19.37:g.56701869G>C	ENSP00000466072:p.Ser272Cys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S272C	ENST00000586855.2	37	c.815	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433269	0.25813	.	.	ENSG00000197213	ENST00000358992	T	0.06371	3.31	1.86	-0.866	0.10659	.	.	.	.	.	T	0.09512	0.0234	M	0.76002	2.32	0.09310	N	1	P	0.49696	0.927	P	0.45946	0.498	T	0.17410	-1.0370	9	0.46703	T	0.11	.	3.4029	0.07330	0.18:0.2673:0.5526:0.0	.	272	A6NJL1	ZSA5B_HUMAN	C	272	ENSP00000351883:S272C	ENSP00000351883:S272C	S	-	2	0	ZSCAN5B	61393681	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.381000	0.07417	-0.092000	0.12417	0.306000	0.20318	TCT	ZSCAN5B	-	NULL		0.522	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	G	NM_001080456		56701869	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	missense	SNP	0.000	C
