#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
ABCA12	26154	genome.wustl.edu	37	2	215890462	215890463	+	Frame_Shift_Ins	INS	-	-	T	rs145481860|rs189141015	byFrequency	TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:215890462_215890463insT	ENST00000272895.7	-	11	1440_1441	c.1221_1222insA	c.(1219-1224)aaatctfs	p.S408fs	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000595058.1_RNA|ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.S90fs|AC072062.3_ENST00000419251.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	408					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)		CGAAGAAAAGATTTTTTAAATC	0.337																																					Ovarian(66;664 1488 5121 34295)												0																																										SO:0001589	frameshift_variant	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.1222dupA	2.37:g.215890468_215890468dupT	ENSP00000272895:p.Ser408fs		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S407fs	ENST00000272895.7	37	c.1222_1221	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.337	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	NM_173076		215890463	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:1.000	T
ADAMTS3	9508	genome.wustl.edu	37	4	73176775	73176775	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:73176775C>T	ENST00000286657.4	-	14	2081	c.2045G>A	c.(2044-2046)gGa>gAa	p.G682E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	682	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACACACTCTCCTCGCACACA	0.383																																					NSCLC(168;1941 2048 2918 13048 43078)												0													216.0	174.0	188.0					4																	73176775		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2045G>A	4.37:g.73176775C>T	ENSP00000286657:p.Gly682Glu		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G682E	ENST00000286657.4	37	c.2045	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787620	0.90367	.	.	ENSG00000156140	ENST00000286657	T	0.70164	-0.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93268	0.6649	10	0.87932	D	0	.	19.4627	0.94924	0.0:1.0:0.0:0.0	.	682	O15072	ATS3_HUMAN	E	682	ENSP00000286657:G682E	ENSP00000286657:G682E	G	-	2	0	ADAMTS3	73395639	1.000000	0.71417	0.999000	0.59377	0.776000	0.43924	7.461000	0.80834	2.709000	0.92574	0.655000	0.94253	GGA	ADAMTS3	-	prints_Peptidase_M12B_ADAM-TS		0.383	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	C			73176775	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150522694	150522694	+	Intron	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150522694G>A	ENST00000271643.4	+	2	152				RP11-54A4.2_ENST00000442435.2_RNA|AL356356.1_ENST00000538795.1_5'UTR|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000483335.1_3'UTR|ADAMTSL4_ENST00000369038.2_5'Flank|ADAMTSL4_ENST00000369039.5_Intron|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)			GACCACCTCTGACCTCTCCTT	0.582																																																	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.-85+323G>A	1.37:g.150522694G>A			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	RNA	SNP	-	NULL	ENST00000271643.4	37	NULL	CCDS955.1	1																																																																																			ADAMTSL4	-	-		0.582	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding		G	NM_019032		150522694	+1	no_errors	ENST00000483335	ensembl	human	known	70_37	rna	SNP	0.847	A
ADD1	118	genome.wustl.edu	37	4	2877717	2877717	+	Silent	SNP	C	C	T	rs199855248		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:2877717C>T	ENST00000398129.1	+	1	95	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ADD1_ENST00000398123.2_Silent_p.F25F|ADD1_ENST00000503455.2_Silent_p.F25F|ADD1_ENST00000446856.1_Silent_p.F25F|ADD1_ENST00000398125.1_Silent_p.F25F|ADD1_ENST00000355842.3_Silent_p.F25F|ADD1_ENST00000513328.2_Silent_p.F25F|ADD1_ENST00000264758.7_Silent_p.F25F			P35611	ADDA_HUMAN	adducin 1 (alpha)	25					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGAGGTACTTCGACCGAGTAG	0.522																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													132.0	133.0	133.0					4																	2877717		2203	4300	6503	SO:0001819	synonymous_variant	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.75C>T	4.37:g.2877717C>T			A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.F25	ENST00000398129.1	37	c.75	CCDS43205.1	4																																																																																			ADD1	-	NULL		0.522	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2877717	+1	no_errors	ENST00000264758	ensembl	human	known	70_37	silent	SNP	0.740	T
AHNAK	79026	genome.wustl.edu	37	11	62289474	62289474	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:62289474T>G	ENST00000378024.4	-	5	12689	c.12415A>C	c.(12415-12417)Aaa>Caa	p.K4139Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4139					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)				TTTGGACCTTTCAGATTCAGG	0.517																																																	0													108.0	107.0	107.0					11																	62289474		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.12415A>C	11.37:g.62289474T>G	ENSP00000367263:p.Lys4139Gln		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K4139Q	ENST00000378024.4	37	c.12415	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	t	10.16	1.273116	0.23221	.	.	ENSG00000124942	ENST00000378024	T	0.01629	4.72	4.1	2.93	0.34026	.	0.119785	0.53938	D	0.000048	T	0.09730	0.0239	M	0.90425	3.115	0.36053	D	0.840912	D	0.71674	0.998	D	0.81914	0.995	T	0.35375	-0.9791	10	0.15952	T	0.53	.	9.2613	0.37614	0.0:0.0901:0.0:0.9099	.	4139	Q09666	AHNK_HUMAN	Q	4139	ENSP00000367263:K4139Q	ENSP00000367263:K4139Q	K	-	1	0	AHNAK	62046050	0.974000	0.33945	0.003000	0.11579	0.017000	0.09413	4.097000	0.57741	0.438000	0.26450	0.323000	0.21402	AAA	AHNAK	-	NULL		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	T	NM_024060		62289474	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.920	G
ANKRD17	26057	genome.wustl.edu	37	4	73956516	73956516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:73956516G>A	ENST00000358602.4	-	29	6945	c.6829C>T	c.(6829-6831)Cag>Tag	p.Q2277*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.Q2164*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.Q2026*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2277					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGTTGACTGAGATGAAACA	0.433																																																	0													176.0	184.0	181.0					4																	73956516		2203	4300	6503	SO:0001587	stop_gained	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6829C>T	4.37:g.73956516G>A	ENSP00000351416:p.Gln2277*		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Q2277*	ENST00000358602.4	37	c.6829	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	46	12.885425	0.99703	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	.	.	.	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.8101	0.96543	0.0:0.0:1.0:0.0	.	.	.	.	X	2277;1684;2026;2164;661	.	ENSP00000332265:Q2026X	Q	-	1	0	ANKRD17	74175380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.241000	0.78201	2.696000	0.92011	0.655000	0.94253	CAG	ANKRD17	-	NULL		0.433	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	G	NM_032217		73956516	-1	no_errors	ENST00000358602	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ANKS1B	56899	genome.wustl.edu	37	12	99166870	99166870	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:99166870C>G	ENST00000547776.2	-	24	3453	c.3454G>C	c.(3454-3456)Gat>Cat	p.D1152H	ANKS1B_ENST00000549025.2_Missense_Mutation_p.D250H|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D1152H|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D668H|ANKS1B_ENST00000332712.7_Missense_Mutation_p.D342H|ANKS1B_ENST00000341752.7_Missense_Mutation_p.D158H|ANKS1B_ENST00000333732.7_Missense_Mutation_p.D182H|ANKS1B_ENST00000549493.2_Missense_Mutation_p.D402H|ANKS1B_ENST00000549558.2_Missense_Mutation_p.D318H|ANKS1B_ENST00000550693.2_Missense_Mutation_p.D342H|ANKS1B_ENST00000547446.1_Missense_Mutation_p.D287H|ANKS1B_ENST00000546568.1_Missense_Mutation_p.D318H|ANKS1B_ENST00000546960.1_Missense_Mutation_p.D378H	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1152	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GACTTCAAATCTTTTGTGATA	0.423																																																	0													107.0	110.0	109.0					12																	99166870		1905	4128	6033	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3454G>C	12.37:g.99166870C>G	ENSP00000449629:p.Asp1152His		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D1152H	ENST00000547776.2	37	c.3454	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.032441|5.032441	0.93575|0.93575	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960|ENST00000550778	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.18960|0.17691	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18|2.26	5.66|5.66	5.66|5.66	0.87406|0.87406	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.44138|0.44138	0.1279|0.1279	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;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;0.991;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.958;0.999;0.999;1.0|.	T|T	0.26608|0.26608	-1.0098|-1.0098	10|6	0.87932|.	D|.	0|.	-13.4037|-13.4037	19.7423|19.7423	0.96237|0.96237	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287;182;182;378;342;292;366;318;402;250;668;1152;318|.	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	H|N	158;318;1152;668;1152;667;342;250;402;287;182;318;342;243;378|423	ENSP00000345510:D158H;ENSP00000448993:D318H;ENSP00000449629:D1152H;ENSP00000448512:D668H;ENSP00000331381:D1152H;ENSP00000447999:D342H;ENSP00000447312:D250H;ENSP00000448203:D402H;ENSP00000450015:D287H;ENSP00000331256:D182H;ENSP00000448205:D318H;ENSP00000332683:D342H;ENSP00000447839:D378H|ENSP00000448744:K423N	ENSP00000331381:D1152H|.	D|K	-|-	1|3	0|2	ANKS1B|ANKS1B	97691001|97691001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.814000|7.814000	0.86154|0.86154	2.676000|2.676000	0.91093|0.91093	0.555000|0.555000	0.69702|0.69702	GAT|AAG	ANKS1B	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	C	NM_020140		99166870	-1	no_errors	ENST00000329257	ensembl	human	known	70_37	missense	SNP	1.000	G
AP2A2	161	genome.wustl.edu	37	11	959489	959489	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:959489C>G	ENST00000448903.2	+	2	261	c.120C>G	c.(118-120)atC>atG	p.I40M	AP2A2_ENST00000332231.5_Missense_Mutation_p.I40M|AP2A2_ENST00000534328.1_Missense_Mutation_p.I40M	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	40	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCAAATATCAGATCAAAAT	0.269																																																	0													82.0	78.0	79.0					11																	959489		1797	4062	5859	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.120C>G	11.37:g.959489C>G	ENSP00000413234:p.Ile40Met		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.I40M	ENST00000448903.2	37	c.120	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746959	0.49257	.	.	ENSG00000183020	ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310;ENST00000531548;ENST00000534485;ENST00000527024	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	4.74	0.776	0.18532	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.192413	0.43579	D	0.000553	T	0.72692	0.3492	H	0.95151	3.63	0.44643	D	0.997622	D;D	0.71674	0.998;0.997	D;D	0.83275	0.993;0.996	T	0.74247	-0.3727	10	0.87932	D	0	-15.6023	8.3093	0.32062	0.0:0.3871:0.0:0.6129	.	40;40	O94973-2;O94973	.;AP2A2_HUMAN	M	40;40;40;40;40;40;40;46;30;34	ENSP00000436059:I40M;ENSP00000413234:I40M;ENSP00000327694:I40M;ENSP00000433498:I46M;ENSP00000435756:I30M;ENSP00000434563:I34M	ENSP00000327694:I40M	I	+	3	3	AP2A2	949489	0.609000	0.26975	0.991000	0.47740	0.936000	0.57629	-0.276000	0.08514	0.303000	0.22785	-0.312000	0.09012	ATC	AP2A2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.269	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	C	NM_012305		959489	+1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	0.995	G
AP3B1	8546	genome.wustl.edu	37	5	77423876	77423876	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:77423876C>T	ENST00000255194.6	-	17	2121	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	AP3B1_ENST00000519295.1_Missense_Mutation_p.R600Q	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	649					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTCTACATTTCGAACTGATGG	0.398									Hermansky-Pudlak syndrome																																								0													79.0	82.0	81.0					5																	77423876		2203	4300	6503	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1946G>A	5.37:g.77423876C>T	ENSP00000255194:p.Arg649Gln		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.R649Q	ENST00000255194.6	37	c.1946	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.851993	0.97023	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.69435	-0.4;1.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90211	0.4264	10	0.87932	D	0	-9.1535	20.2983	0.98569	0.0:1.0:0.0:0.0	.	649	O00203	AP3B1_HUMAN	Q	649;600;649;553	ENSP00000255194:R649Q;ENSP00000430597:R600Q	ENSP00000255194:R649Q	R	-	2	0	AP3B1	77459632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.802000	0.96397	0.655000	0.94253	CGA	AP3B1	-	pirsf_AP3_beta		0.398	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	C			77423876	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	1.000	T
ARFIP2	23647	genome.wustl.edu	37	11	6498387	6498387	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:6498387G>A	ENST00000254584.2	-	8	1065	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	ARFIP2_ENST00000396777.3_Missense_Mutation_p.R328W|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R290W|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R243W|TRIM3_ENST00000525074.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	328					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGGAGGCCGCAGCTTGATG	0.577																																					Melanoma(119;796 1674 9049 20480 24794)												0													50.0	42.0	45.0					11																	6498387		2201	4296	6497	SO:0001583	missense	23647			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.982C>T	11.37:g.6498387G>A	ENSP00000254584:p.Arg328Trp		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.R328W	ENST00000254584.2	37	c.982	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048312	0.55110	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.78246	-1.14;-1.14;-1.16;-1.14	5.03	4.1	0.47936	.	0.183020	0.46145	D	0.000320	T	0.79822	0.4512	L	0.40543	1.245	0.49389	D	0.999788	D;D;D	0.71674	0.998;0.997;0.978	P;P;P	0.59424	0.857;0.757;0.644	T	0.80913	-0.1170	10	0.87932	D	0	.	11.284	0.49212	0.0:0.0:0.5455:0.4545	.	361;243;328	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	W	328;328;243;290	ENSP00000254584:R328W;ENSP00000379998:R328W;ENSP00000391427:R243W;ENSP00000398375:R290W	ENSP00000254584:R328W	R	-	1	2	ARFIP2	6454963	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.807000	0.69157	1.091000	0.41335	0.467000	0.42956	CGG	ARFIP2	-	NULL		0.577	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	G	NM_012402		6498387	-1	no_errors	ENST00000254584	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGEF2	9181	genome.wustl.edu	37	1	155917026	155917026	+	3'UTR	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:155917026G>C	ENST00000361247.4	-	0	3767				ARHGEF2_ENST00000462460.2_3'UTR|ARHGEF2_ENST00000313695.7_3'UTR|ARHGEF2_ENST00000368315.4_3'UTR|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_3'UTR	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACGTGCAGTTGACTTTGGTAC	0.428																																					Melanoma(178;35 2768 6610 28839)												0																																										SO:0001624	3_prime_UTR_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.*707C>G	1.37:g.155917026G>C			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	RNA	SNP	-	NULL	ENST00000361247.4	37	NULL	CCDS53376.1	1																																																																																			ARHGEF2	-	-		0.428	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155917026	-1	no_errors	ENST00000470541	ensembl	human	known	70_37	rna	SNP	1.000	C
ARHGEF11	9826	genome.wustl.edu	37	1	156916522	156916522	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:156916522G>C	ENST00000361409.2	-	27	3248	c.2506C>G	c.(2506-2508)Cag>Gag	p.Q836E	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.Q876E|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.Q252E|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	836	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)					GCTATTGACTGATAGGAACAG	0.552																																																	0													177.0	186.0	183.0					1																	156916522		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.2506C>G	1.37:g.156916522G>C	ENSP00000354644:p.Gln836Glu		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.Q876E	ENST00000361409.2	37	c.2626	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.237304	0.95240	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.69435	-0.4;-0.4;-0.4	5.54	5.54	0.83059	Dbl homology (DH) domain (5);	0.000000	0.56097	D	0.000037	T	0.79329	0.4427	M	0.72576	2.205	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.997	D;D;D	0.77004	0.989;0.923;0.957	T	0.79636	-0.1721	10	0.72032	D	0.01	-23.0386	19.2713	0.94011	0.0:0.0:1.0:0.0	.	252;836;876	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	E	876;836;252	ENSP00000357177:Q876E;ENSP00000354644:Q836E;ENSP00000313470:Q252E	ENSP00000313470:Q252E	Q	-	1	0	ARHGEF11	155183146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.890000	0.99128	0.650000	0.86243	CAG	ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	G	NM_198236		156916522	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	C
ARRDC3	57561	genome.wustl.edu	37	5	90671370	90671370	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:90671370delT	ENST00000265138.3	-	4	837	c.571delA	c.(571-573)atafs	p.I191fs	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	191					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CTTAAGGATATTGGGCCTGAG	0.393																																																	0													123.0	130.0	128.0					5																	90671370		2203	4300	6503	SO:0001589	frameshift_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.571delA	5.37:g.90671370delT	ENSP00000265138:p.Ile191fs		A8K6T8|Q9P2H1	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.I191fs	ENST00000265138.3	37	c.571	CCDS34202.1	5																																																																																			ARRDC3	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.393	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC3	HGNC	protein_coding	OTTHUMT00000369763.2	T	NM_020801		90671370	-1	no_errors	ENST00000265138	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
ATP2B3	492	genome.wustl.edu	37	X	152825250	152825250	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:152825250C>G	ENST00000349466.2	+	17	3015	c.2689C>G	c.(2689-2691)Ctg>Gtg	p.L897V	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L883V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L897V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L897V|ATP2B3_ENST00000370186.1_Missense_Mutation_p.L883V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L883V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	897					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGCCTCTCTGGCCCTGGC	0.592																																																	0													96.0	81.0	86.0					X																	152825250		2203	4300	6503	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2689C>G	X.37:g.152825250C>G	ENSP00000343886:p.Leu897Val		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L897V	ENST00000349466.2	37	c.2689	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191532	0.58017	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.32	5.32	0.75619	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.98626	0.9540	H	0.96430	3.82	0.53688	D	0.999979	D;D	0.56035	0.974;0.967	P;P	0.62435	0.902;0.887	D	0.99774	1.1025	10	0.87932	D	0	-18.1435	16.7389	0.85454	0.0:1.0:0.0:0.0	.	897;897	Q16720;Q16720-2	AT2B3_HUMAN;.	V	883;897;883;897;897;883	ENSP00000359205:L883V;ENSP00000343886:L897V;ENSP00000377425:L883V;ENSP00000352062:L897V;ENSP00000263519:L897V;ENSP00000359200:L883V	ENSP00000263519:L897V	L	+	1	2	ATP2B3	152478444	0.972000	0.33761	0.960000	0.40013	0.927000	0.56198	2.466000	0.45084	2.212000	0.71576	0.529000	0.55759	CTG	ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152825250	+1	no_errors	ENST00000263519	ensembl	human	known	70_37	missense	SNP	0.998	G
ATP4A	495	genome.wustl.edu	37	19	36054415	36054415	+	Silent	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:36054415G>C	ENST00000262623.3	-	2	55	c.27C>G	c.(25-27)ctC>ctG	p.L9L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	9					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCACCGAGTAGAGCTCATAGT	0.632																																																	0													104.0	111.0	108.0					19																	36054415		2203	4300	6503	SO:0001819	synonymous_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.27C>G	19.37:g.36054415G>C			O00738	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.L9	ENST00000262623.3	37	c.27	CCDS12467.1	19																																																																																			ATP4A	-	pfam_ATPase_P-typ_H/K-transp_N		0.632	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	G	NM_000704		36054415	-1	no_errors	ENST00000262623	ensembl	human	known	70_37	silent	SNP	0.836	C
DPH6	89978	genome.wustl.edu	37	15	35834625	35834625	+	Missense_Mutation	SNP	G	G	T	rs373612094		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:35834625G>T	ENST00000256538.4	-	2	133	c.107C>A	c.(106-108)gCt>gAt	p.A36D	DPH6_ENST00000440392.2_Missense_Mutation_p.A36D	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	36					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										TTGGTTTTCAGCTGGTCTTAG	0.388																																																	0													140.0	130.0	134.0					15																	35834625		2201	4298	6499	SO:0001583	missense	89978				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.107C>A	15.37:g.35834625G>T	ENSP00000256538:p.Ala36Asp		B3KWG1|Q96HJ6	Missense_Mutation	SNP	pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom	p.A36D	ENST00000256538.4	37	c.107	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482185	0.26598	.	.	ENSG00000134146	ENST00000256538;ENST00000440392	T;T	0.46451	1.49;0.87	5.38	3.31	0.37934	Domain of unknown function DUF71, ATP-binding domain (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.251565	0.39146	N	0.001456	T	0.31327	0.0793	L	0.39566	1.225	0.32919	D	0.51557	B;B	0.06786	0.001;0.001	B;B	0.13407	0.008;0.009	T	0.35375	-0.9791	10	0.18710	T	0.47	-1.9506	11.3339	0.49492	0.0:0.1149:0.7219:0.1632	.	36;36	B3KWG1;Q7L8W6	.;ATBD4_HUMAN	D	36	ENSP00000256538:A36D;ENSP00000406976:A36D	ENSP00000256538:A36D	A	-	2	0	ATPBD4	33621917	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.769000	0.68865	1.293000	0.44690	0.650000	0.86243	GCT	ATPBD4	-	pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom		0.388	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPBD4	HGNC	protein_coding	OTTHUMT00000251973.1	G	NM_080650		35834625	-1	no_errors	ENST00000256538	ensembl	human	known	70_37	missense	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76874434	76874434	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:76874434T>A	ENST00000373344.5	-	21	5502	c.5288A>T	c.(5287-5289)aAt>aTt	p.N1763I	ATRX_ENST00000395603.3_Missense_Mutation_p.N1725I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1763	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTGATAAAATTAACCATACA	0.303			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											45.0	41.0	43.0					X																	76874434		2203	4292	6495	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5288A>T	X.37:g.76874434T>A	ENSP00000362441:p.Asn1763Ile		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1763I	ENST00000373344.5	37	c.5288	CCDS14434.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.129046|4.129046	0.77549|0.77549	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.94232	.|-3.38;-3.38	5.5|5.5	5.5|5.5	0.81552|0.81552	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97673|0.97673	0.9237|0.9237	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.97110	.|0.992;1.0	D|D	0.98766|0.98766	1.0726|1.0726	5|10	.|0.87932	.|D	.|0	-11.1685|-11.1685	14.5783|14.5783	0.68265|0.68265	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1725;1763	.|P46100-4;P46100	.|.;ATRX_HUMAN	F|I	52|1763;1725	.|ENSP00000362441:N1763I;ENSP00000378967:N1725I	.|ENSP00000362441:N1763I	I|N	-|-	1|2	0|0	ATRX|ATRX	76761090|76761090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.669000|7.669000	0.83911|0.83911	1.823000|1.823000	0.53134|0.53134	0.486000|0.486000	0.48141|0.48141	ATT|AAT	ATRX	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.303	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	T	NM_000489		76874434	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	A
BBS9	27241	genome.wustl.edu	37	7	33545330	33545330	+	Intron	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:33545330G>A	ENST00000242067.6	+	20	2819				BBS9_ENST00000355070.2_Intron|BBS9_ENST00000350941.3_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000396127.2_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATATCACATGGCTATCAGGTT	0.383									Bardet-Biedl syndrome																																								0																																										SO:0001627	intron_variant	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2298+73G>A	7.37:g.33545330G>A			E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	RNA	SNP	-	NULL	ENST00000242067.6	37	NULL	CCDS43566.1	7																																																																																			BBS9	-	-		0.383	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	G			33545330	+1	no_errors	ENST00000489708	ensembl	human	putative	70_37	rna	SNP	0.130	A
C11orf84	144097	genome.wustl.edu	37	11	63586438	63586438	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:63586438G>A	ENST00000294244.4	+	5	1197	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	300										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GGAAGTGGCAGAAGGAGGCCT	0.667																																																	0													41.0	44.0	43.0					11																	63586438		2200	4298	6498	SO:0001583	missense	144097			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.898G>A	11.37:g.63586438G>A	ENSP00000294244:p.Glu300Lys		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	NULL	p.E300K	ENST00000294244.4	37	c.898	CCDS31594.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.662473|1.662473	0.29515|0.29515	.|.	.|.	ENSG00000168005|ENSG00000168005	ENST00000294244;ENST00000540893|ENST00000535820	T|.	0.52057|.	0.68|.	3.74|3.74	1.82|1.82	0.25136|0.25136	.|.	1.130820|.	0.06480|.	N|.	0.732674|.	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B|.	0.26195|.	0.144|.	B|.	0.25291|.	0.059|.	T|T	0.25222|0.25222	-1.0138|-1.0138	10|5	0.87932|.	D|.	0|.	0.1144|0.1144	6.1134|6.1134	0.20114|0.20114	0.2451:0.0:0.7549:0.0|0.2451:0.0:0.7549:0.0	.|.	300|.	Q9BUA3|.	CK084_HUMAN|.	K|K	300;75|7	ENSP00000294244:E300K|.	ENSP00000294244:E300K|.	E|R	+|+	1|2	0|0	C11orf84|C11orf84	63343014|63343014	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.633000|0.633000	0.24598|0.24598	0.197000|0.197000	0.20387|0.20387	0.561000|0.561000	0.74099|0.74099	GAA|AGA	C11orf84	-	NULL		0.667	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	G	NM_138471		63586438	+1	no_errors	ENST00000294244	ensembl	human	known	70_37	missense	SNP	0.000	A
C7orf65	401335	genome.wustl.edu	37	7	47698599	47698599	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:47698599C>G	ENST00000408988.2	+	3	264	c.229C>G	c.(229-231)Ctg>Gtg	p.L77V		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	77										endometrium(1)|lung(2)	3						GCTGCTATTTCTGTTCAAGGC	0.512																																																	0													82.0	77.0	78.0					7																	47698599		1568	3582	5150	SO:0001583	missense	401335				CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.229C>G	7.37:g.47698599C>G	ENSP00000386198:p.Leu77Val		A4D2F8	Missense_Mutation	SNP	NULL	p.L77V	ENST00000408988.2	37	c.229	CCDS43580.1	7	.	.	.	.	.	.	.	.	.	.	C	5.407	0.260293	0.10239	.	.	ENSG00000221845	ENST00000408988	.	.	.	1.32	0.405	0.16361	.	.	.	.	.	T	0.27313	0.0670	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	D	0.68621	0.959	T	0.11518	-1.0584	8	0.87932	D	0	.	3.517	0.07728	0.0:0.733:0.0:0.267	.	77	Q6ZTY9	CG065_HUMAN	V	77	.	ENSP00000386198:L77V	L	+	1	2	C7orf65	47665124	0.001000	0.12720	0.009000	0.14445	0.112000	0.19704	0.120000	0.15647	0.119000	0.18210	0.561000	0.74099	CTG	C7orf65	-	NULL		0.512	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf65	HGNC	protein_coding	OTTHUMT00000340616.1	C	NM_001123065		47698599	+1	no_errors	ENST00000408988	ensembl	human	putative	70_37	missense	SNP	0.012	G
C9orf84	158401	genome.wustl.edu	37	9	114508574	114508574	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:114508574G>C	ENST00000318737.4	-	8	955	c.827C>G	c.(826-828)tCt>tGt	p.S276C	C9orf84_ENST00000394779.3_Missense_Mutation_p.S237C|C9orf84_ENST00000374283.5_Missense_Mutation_p.S340C|C9orf84_ENST00000374287.3_Missense_Mutation_p.S276C|C9orf84_ENST00000394777.4_Missense_Mutation_p.S237C	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	276										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTCACTGAAGAATGTTGGCA	0.318																																																	0													130.0	129.0	130.0					9																	114508574		2203	4300	6503	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.827C>G	9.37:g.114508574G>C	ENSP00000322108:p.Ser276Cys		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.S276C	ENST00000318737.4	37	c.827	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331486	0.41297	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.45	2.61	0.31194	.	0.173187	0.27951	N	0.017187	T	0.42471	0.1204	L	0.34521	1.04	0.09310	N	1	P;D;D;D	0.69078	0.895;0.992;0.997;0.975	P;P;P;P	0.57720	0.606;0.826;0.81;0.717	T	0.19224	-1.0312	10	0.72032	D	0.01	0.0428	6.637	0.22889	0.2173:0.0:0.7827:0.0	.	237;340;276;237	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	C	237;237;276;276;340	ENSP00000378259:S237C;ENSP00000378257:S237C;ENSP00000363405:S276C;ENSP00000322108:S276C;ENSP00000363401:S340C	ENSP00000322108:S276C	S	-	2	0	C9orf84	113548395	0.720000	0.27996	0.048000	0.18961	0.006000	0.05464	3.039000	0.49791	0.506000	0.28125	0.467000	0.42956	TCT	C9orf84	-	NULL		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	G	NM_173521		114508574	-1	no_errors	ENST00000318737	ensembl	human	known	70_37	missense	SNP	0.006	C
CAD	790	genome.wustl.edu	37	2	27447715	27447715	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:27447715C>G	ENST00000403525.1	+	10	1501	c.1357C>G	c.(1357-1359)Ctt>Gtt	p.L453V	CAD_ENST00000264705.4_Missense_Mutation_p.L453V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTATTTTCTTCCCATAAC	0.517																																																	0													142.0	150.0	148.0					2																	27447715		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1357C>G	2.37:g.27447715C>G	ENSP00000384510:p.Leu453Val		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L453V	ENST00000403525.1	37	c.1357		2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499870	0.64298	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95171	-3.63;-3.63	5.71	3.58	0.41010	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.87827	2.91	0.58432	D	0.999991	D;D	0.89917	0.964;1.0	P;D	0.87578	0.854;0.998	D	0.96809	0.9595	10	0.48119	T	0.1	-0.1251	12.2459	0.54571	0.0:0.8333:0.0:0.1667	.	453;453	F8VPD4;P27708	.;PYR1_HUMAN	V	453	ENSP00000264705:L453V;ENSP00000384510:L453V	ENSP00000264705:L453V	L	+	1	0	CAD	27301219	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.540000	0.60664	1.410000	0.46936	0.462000	0.41574	CTT	CAD	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu		0.517	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	C			27447715	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	G
CAMSAP3	57662	genome.wustl.edu	37	19	7678011	7678011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:7678011G>T	ENST00000160298.4	+	11	2733	c.2632G>T	c.(2632-2634)Gag>Tag	p.E878*	CAMSAP3_ENST00000446248.2_Nonsense_Mutation_p.E905*	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	878					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGCGTCTTCGGAGGGGGAGCC	0.731																																																	0													3.0	3.0	3.0					19																	7678011		1352	3017	4369	SO:0001587	stop_gained	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2632G>T	19.37:g.7678011G>T	ENSP00000160298:p.Glu878*		Q8NDF1	Nonsense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E905*	ENST00000160298.4	37	c.2713	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	36	5.768792	0.96914	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	.	.	.	5.21	3.95	0.45737	.	0.187337	0.26010	N	0.026898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.4065	11.6343	0.51194	0.1019:0.0:0.8981:0.0	.	.	.	.	X	905;878	.	ENSP00000160298:E878X	E	+	1	0	KIAA1543	7584011	1.000000	0.71417	0.944000	0.38274	0.116000	0.19942	3.134000	0.50538	2.436000	0.82500	0.551000	0.68910	GAG	CAMSAP3	-	NULL		0.731	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7678011	+1	no_errors	ENST00000446248	ensembl	human	known	70_37	nonsense	SNP	0.915	T
CC2D2A	57545	genome.wustl.edu	37	4	15482840	15482840	+	Intron	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:15482840G>C	ENST00000503292.1	+	5	427				CC2D2A_ENST00000507954.1_Missense_Mutation_p.K89N|CC2D2A_ENST00000413206.1_Intron|CC2D2A_ENST00000389652.5_Intron|CC2D2A_ENST00000503658.1_3'UTR|CC2D2A_ENST00000515124.1_Missense_Mutation_p.K89N|CC2D2A_ENST00000513811.1_Intron|CC2D2A_ENST00000511544.1_3'UTR|CC2D2A_ENST00000438599.2_3'UTR|CC2D2A_ENST00000424120.1_Intron	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A						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						ttgttaaaaagagcctgggca	0.527																																																	0																																										SO:0001627	intron_variant	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.247+389G>C	4.37:g.15482840G>C			A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	NULL	p.K89N	ENST00000503292.1	37	c.267	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	0.643	-0.812477	0.02798	.	.	ENSG00000048342	ENST00000507954;ENST00000515124	.	.	.	0.171	0.171	0.15026	.	.	.	.	.	T	0.27454	0.0674	N	0.12746	0.255	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.20571	-1.0271	7	0.87932	D	0	.	.	.	.	.	89	D6RB72	.	N	89	.	ENSP00000427221:K89N	K	+	3	2	CC2D2A	15091938	0.072000	0.21174	0.066000	0.19879	0.067000	0.16453	0.348000	0.20031	0.276000	0.22118	0.281000	0.19383	AAG	CC2D2A	-	NULL		0.527	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	G	NM_001080522		15482840	+1	no_errors	ENST00000507954	ensembl	human	putative	70_37	missense	SNP	0.077	C
CCDC77	84318	genome.wustl.edu	37	12	547595	547595	+	Missense_Mutation	SNP	G	G	A	rs565946457		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:547595G>A	ENST00000239830.4	+	10	1095	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC77_ENST00000540180.1_Missense_Mutation_p.E274K|CCDC77_ENST00000412006.2_Missense_Mutation_p.E274K|CCDC77_ENST00000422000.1_Missense_Mutation_p.E274K	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	306						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGGATGCTTGAAAAAGATAA	0.373													g|||	1	0.000199681	0.0	0.0	5008	,	,		19694	0.0		0.001	False		,,,				2504	0.0																0													110.0	111.0	111.0					12																	547595		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.916G>A	12.37:g.547595G>A	ENSP00000239830:p.Glu306Lys		B4DDE8	Missense_Mutation	SNP	NULL	p.E306K	ENST00000239830.4	37	c.916	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	g	34	5.295386	0.95574	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70824	-0.4767	10	0.45353	T	0.12	-23.1668	18.7532	0.91823	0.0:0.0:1.0:0.0	.	306	Q9BR77	CCD77_HUMAN	K	274;274;274;306;274	ENSP00000440554:E274K;ENSP00000391870:E274K;ENSP00000445873:E274K;ENSP00000239830:E306K;ENSP00000412925:E274K	ENSP00000239830:E306K	E	+	1	0	CCDC77	417856	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.203000	0.95033	2.503000	0.84419	0.556000	0.70494	GAA	CCDC77	-	NULL		0.373	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		547595	+1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	1.000	A
CCNC	892	genome.wustl.edu	37	6	100006296	100006296	+	Intron	DEL	A	A	-			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:100006296delA	ENST00000520429.1	-	5	792				CCNC_ENST00000523799.1_Intron|CCNC_ENST00000518714.1_Intron|CCNC_ENST00000482541.2_Frame_Shift_Del_p.F141fs|CCNC_ENST00000521017.1_Intron|CCNC_ENST00000520371.1_Intron|CCNC_ENST00000369220.4_Intron|CCNC_ENST00000523985.1_Intron	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C						gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CTCATAAACTAAAAAAAAAAA	0.299																																					GBM(57;273 1020 40094 44454 49348)												0																																										SO:0001627	intron_variant	892				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.346+76T>-	6.37:g.100006296delA			B4DPZ1|Q9H543	Frame_Shift_Del	DEL	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.F141fs	ENST00000520429.1	37	c.423	CCDS34502.1	6																																																																																			CCNC	-	superfamily_Cyclin-like		0.299	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	A	NM_005190		100006296	-1	no_errors	ENST00000482541	ensembl	human	putative	70_37	frame_shift_del	DEL	0.007	-
CD101	9398	genome.wustl.edu	37	1	117544453	117544453	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:117544453C>G	ENST00000256652.4	+	1	72	c.14C>G	c.(13-15)tCa>tGa	p.S5*	CD101_ENST00000369470.1_Nonsense_Mutation_p.S5*	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	5					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGGCATCTCATATGTGGCA	0.438																																																	0													293.0	239.0	257.0					1																	117544453		2203	4300	6503	SO:0001587	stop_gained	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.14C>G	1.37:g.117544453C>G	ENSP00000256652:p.Ser5*		Q15856	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S5*	ENST00000256652.4	37	c.14	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.396874	0.96009	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	.	.	.	5.31	-0.264	0.12950	.	2.711490	0.01136	N	0.006089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	21.2583	3.8708	0.09036	0.1638:0.4445:0.0:0.3917	.	.	.	.	X	5	.	ENSP00000256652:S5X	S	+	2	0	CD101	117345976	0.000000	0.05858	0.000000	0.03702	0.599000	0.36880	-0.043000	0.12043	-0.208000	0.10171	0.555000	0.69702	TCA	CD101	-	NULL		0.438	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	C	NM_004258		117544453	+1	no_errors	ENST00000256652	ensembl	human	known	70_37	nonsense	SNP	0.000	G
CDK10	8558	genome.wustl.edu	37	16	89756984	89756984	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:89756984G>C	ENST00000353379.7	+	3	227	c.184G>C	c.(184-186)Gat>Cat	p.D62H	CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Missense_Mutation_p.D15H|CDK10_ENST00000505473.1_5'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CACCCAGACAGATGAGATTGT	0.577																																																	0													223.0	177.0	193.0					16																	89756984		2198	4300	6498	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.184G>C	16.37:g.89756984G>C	ENSP00000338673:p.Asp62His		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	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.D62H	ENST00000353379.7	37	c.184	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982520	0.34942	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000353379	T;T	0.45276	0.9;0.9	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.196580	0.53938	D	0.000052	T	0.36386	0.0965	L	0.39397	1.21	0.80722	D	1	B;B;B	0.17038	0.02;0.014;0.02	B;B;B	0.24394	0.048;0.053;0.03	T	0.23511	-1.0186	10	0.66056	D	0.02	-25.0692	11.9489	0.52944	0.0802:0.0:0.9198:0.0	.	56;62;56	B7Z319;Q15131;B3KQJ3	.;CDK10_HUMAN;.	H	15;33;62	ENSP00000329957:D15H;ENSP00000338673:D62H	ENSP00000329957:D15H	D	+	1	0	CDK10	88284485	0.998000	0.40836	0.953000	0.39169	0.984000	0.73092	2.795000	0.47861	2.355000	0.79922	0.561000	0.74099	GAT	CDK10	-	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		0.577	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	G			89756984	+1	no_errors	ENST00000353379	ensembl	human	known	70_37	missense	SNP	0.971	C
CEP63	80254	genome.wustl.edu	37	3	134256086	134256086	+	Silent	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:134256086G>T	ENST00000337090.3	+	6	704	c.531G>T	c.(529-531)ctG>ctT	p.L177L	CEP63_ENST00000354446.3_Silent_p.L177L|CEP63_ENST00000606977.1_Silent_p.L177L|CEP63_ENST00000332047.5_Silent_p.L177L|CEP63_ENST00000513612.2_Silent_p.L177L|CEP63_ENST00000383229.3_Silent_p.L177L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	177					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAGGCTCTGGCTGAACAAT	0.433																																																	0													94.0	96.0	95.0					3																	134256086		2203	4300	6503	SO:0001819	synonymous_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.531G>T	3.37:g.134256086G>T			D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	NULL	p.L177	ENST00000337090.3	37	c.531	CCDS3086.1	3																																																																																			CEP63	-	NULL		0.433	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP63	HGNC	protein_coding	OTTHUMT00000470139.1	G	NM_025180		134256086	+1	no_errors	ENST00000337090	ensembl	human	known	70_37	silent	SNP	1.000	T
SETDB1	9869	genome.wustl.edu	37	1	150936958	150936958	+	3'UTR	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150936958G>C	ENST00000271640.5	+	0	4184				CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|SETDB1_ENST00000368969.4_3'UTR|CERS2_ENST00000561294.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTCCTAGTTGATAGAAATGG	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	29956			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.*118G>C	1.37:g.150936958G>C			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	RNA	SNP	-	NULL	ENST00000271640.5	37	NULL	CCDS44217.1	1																																																																																			CERS2	-	-		0.537	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084717.2	G			150936958	-1	no_errors	ENST00000482825	ensembl	human	known	70_37	rna	SNP	0.058	C
CERS2	29956	genome.wustl.edu	37	1	150939634	150939634	+	Silent	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150939634G>A	ENST00000271688.6	-	8	1043	c.657C>T	c.(655-657)ctC>ctT	p.L219L	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000368954.5_Silent_p.L219L|CERS2_ENST00000561294.1_Silent_p.L210L	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	219	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AAAAGCTGATGAGAATGATGG	0.498																																																	0													104.0	99.0	100.0					1																	150939634		2203	4300	6503	SO:0001819	synonymous_variant	29956			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.657C>T	1.37:g.150939634G>A			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.L219	ENST00000271688.6	37	c.657	CCDS973.1	1																																																																																			CERS2	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.498	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	G	NM_022075		150939634	-1	no_errors	ENST00000271688	ensembl	human	known	70_37	silent	SNP	1.000	A
CERS2	29956	genome.wustl.edu	37	1	150939640	150939640	+	Silent	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150939640G>A	ENST00000271688.6	-	8	1037	c.651C>T	c.(649-651)atC>atT	p.I217I	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000368954.5_Silent_p.I217I|CERS2_ENST00000561294.1_Silent_p.I208I	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	217	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGATGAGAATGATGGTGGCCA	0.498																																																	0													103.0	98.0	100.0					1																	150939640		2203	4300	6503	SO:0001819	synonymous_variant	29956			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.651C>T	1.37:g.150939640G>A			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.I217	ENST00000271688.6	37	c.651	CCDS973.1	1																																																																																			CERS2	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.498	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	G	NM_022075		150939640	-1	no_errors	ENST00000271688	ensembl	human	known	70_37	silent	SNP	1.000	A
CHD4	1108	genome.wustl.edu	37	12	6690291	6690291	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:6690291C>T	ENST00000357008.2	-	33	4991	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K	CHD4_ENST00000544484.1_Missense_Mutation_p.E1635K|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.E1638K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1603K|CHD4_ENST00000540960.1_5'Flank|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1610	Required for interaction with PCNT.				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						TCAGGGGGTTCAACAACGACC	0.478																																					Colon(32;586 792 4568 16848 45314)												0													201.0	210.0	207.0					12																	6690291		2203	4300	6503	SO:0001583	missense	1108			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.4828G>A	12.37:g.6690291C>T	ENSP00000349508:p.Glu1610Lys		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,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,superfamily_Homeodomain-like,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.E1638K	ENST00000357008.2	37	c.4912	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	8.175	0.792445	0.16258	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91351	-2.83;-2.81;-2.82;-2.8	5.46	5.46	0.80206	.	0.555812	0.19207	N	0.120028	D	0.86916	0.6048	L	0.51422	1.61	0.09310	N	1	B;B;B	0.15473	0.013;0.008;0.013	B;B;B	0.19391	0.025;0.011;0.025	T	0.72636	-0.4233	10	0.21014	T	0.42	.	12.0128	0.53297	0.0:0.9117:0.0:0.0883	.	1638;1610;1603	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1635;1603;1638;1610;1584	ENSP00000440392:E1635K;ENSP00000440542:E1603K;ENSP00000312419:E1638K;ENSP00000349508:E1610K	ENSP00000312419:E1638K	E	-	1	0	CHD4	6560552	0.871000	0.30034	0.035000	0.18076	0.068000	0.16541	4.409000	0.59768	2.720000	0.93068	0.655000	0.94253	GAA	CHD4	-	NULL		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6690291	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	0.124	T
CHD8	57680	genome.wustl.edu	37	14	21899634	21899634	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:21899634C>T	ENST00000557364.1	-	2	432	c.169G>A	c.(169-171)Gat>Aat	p.D57N	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.D57N|CHD8_ENST00000430710.3_Intron|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	57					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCCCCACATCACCACCTCCA	0.522																																																	0													131.0	116.0	121.0					14																	21899634		692	1591	2283	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.169G>A	14.37:g.21899634C>T	ENSP00000451601:p.Asp57Asn		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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.D57N	ENST00000557364.1	37	c.169	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931535	0.34096	.	.	ENSG00000100888	ENST00000399982;ENST00000557364;ENST00000553622	D;D	0.89485	-2.52;-2.52	4.64	1.74	0.24563	.	.	.	.	.	T	0.78078	0.4227	N	0.19112	0.55	0.28608	N	0.9088	.	.	.	.	.	.	T	0.64253	-0.6451	7	0.13470	T	0.59	.	7.3571	0.26725	0.0:0.701:0.1385:0.1605	.	.	.	.	N	57;57;32	ENSP00000382863:D57N;ENSP00000451601:D57N	ENSP00000382863:D57N	D	-	1	0	CHD8	20969474	1.000000	0.71417	0.997000	0.53966	0.352000	0.29268	0.634000	0.24614	0.258000	0.21686	-0.263000	0.10527	GAT	CHD8	-	NULL		0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21899634	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	0.989	T
CIB4	130106	genome.wustl.edu	37	2	26804232	26804232	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:26804232C>T	ENST00000288861.4	-	7	610	c.557G>A	c.(556-558)tGa>tAa	p.*186*	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	0							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCTACATCAGCATCCCCA	0.562																																																	0													74.0	64.0	68.0					2																	26804232		2203	4300	6503	SO:0001819	synonymous_variant	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.557G>A	2.37:g.26804232C>T			B2RU18	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.*186	ENST00000288861.4	37	c.557	CCDS33160.1	2																																																																																			CIB4	-	NULL		0.562	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	C			26804232	-1	no_errors	ENST00000288861	ensembl	human	known	70_37	silent	SNP	0.684	T
CLCNKA	1187	genome.wustl.edu	37	1	16360323	16360323	+	3'UTR	SNP	G	G	T	rs61772372		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:16360323G>T	ENST00000331433.4	+	0	2253				CLCNKA_ENST00000420078.1_3'UTR|CLCNKA_ENST00000375692.1_3'UTR|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTCATCCTGGGTGGGACGATG	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.*170G>T	1.37:g.16360323G>T			B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	RNA	SNP	-	NULL	ENST00000331433.4	37	NULL	CCDS167.1	1																																																																																			CLCNKA	-	-		0.552	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	G			16360323	+1	no_errors	ENST00000464764	ensembl	human	known	70_37	rna	SNP	0.000	T
CLDN16	10686	genome.wustl.edu	37	3	190105955	190105955	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:190105955C>G	ENST00000264734.2	+	1	295	c.47C>G	c.(46-48)tCt>tGt	p.S16C	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.S16C	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	16					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGTATTATTCTTACTGCAAC	0.493																																																	0													45.0	42.0	43.0					3																	190105955		2203	4300	6503	SO:0001583	missense	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.47C>G	3.37:g.190105955C>G	ENSP00000264734:p.Ser16Cys			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.S16C	ENST00000264734.2	37	c.47	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585257	0.28268	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.93426	-2.87;-3.22	5.91	0.928	0.19443	.	0.568160	0.14870	N	0.293561	D	0.84142	0.5407	N	0.19112	0.55	0.09310	N	1	B;B	0.24368	0.102;0.004	B;B	0.24155	0.051;0.005	T	0.73616	-0.3926	10	0.62326	D	0.03	.	1.813	0.03094	0.1424:0.4863:0.138:0.2334	.	16;16	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	C	16	ENSP00000264734:S16C;ENSP00000414136:S16C	ENSP00000264734:S16C	S	+	2	0	CLDN16	191588649	0.644000	0.27277	0.007000	0.13788	0.302000	0.27658	0.238000	0.18004	-0.106000	0.12110	0.557000	0.71058	TCT	CLDN16	-	NULL		0.493	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	C	NM_006580		190105955	+1	no_errors	ENST00000264734	ensembl	human	known	70_37	missense	SNP	0.043	G
CTSD	1509	genome.wustl.edu	37	11	1774826	1774826	+	Silent	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:1774826G>C	ENST00000236671.2	-	9	1278	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	382					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCAGGATCCAGAGTGGCCCGC	0.647																																																	0													53.0	55.0	54.0					11																	1774826		2202	4299	6501	SO:0001819	synonymous_variant	1509			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1146C>G	11.37:g.1774826G>C			Q6IB57	Silent	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.L382	ENST00000236671.2	37	c.1146	CCDS7725.1	11																																																																																			CTSD	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.647	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	G	NM_001909		1774826	-1	no_errors	ENST00000236671	ensembl	human	known	70_37	silent	SNP	1.000	C
CUL9	23113	genome.wustl.edu	37	6	43182816	43182816	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:43182816G>T	ENST00000252050.4	+	30	5772		c.e30-1		CUL9_ENST00000354495.3_Splice_Site|CUL9_ENST00000372647.2_Splice_Site|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTCCTATCCAGGTGCTGGAGG	0.537																																																	0													74.0	79.0	77.0					6																	43182816		2203	4300	6503	SO:0001630	splice_region_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5689-1G>T	6.37:g.43182816G>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	SNP	-	e29-1	ENST00000252050.4	37	c.5689-1	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105650	0.77096	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0368	0.92982	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUL9	43290794	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.521000	0.81832	2.492000	0.84095	0.655000	0.94253	.	CUL9	-	-		0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	G	NM_015089	Intron	43182816	+1	no_errors	ENST00000252050	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CUX1	1523	genome.wustl.edu	37	7	101813778	101813778	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:101813778C>T	ENST00000292535.7	+	10	814	c.776C>T	c.(775-777)tCg>tTg	p.S259L	CUX1_ENST00000549414.2_Missense_Mutation_p.S259L|CUX1_ENST00000393824.3_Missense_Mutation_p.S233L|CUX1_ENST00000437600.4_Missense_Mutation_p.S270L|CUX1_ENST00000360264.3_Missense_Mutation_p.S270L|CUX1_ENST00000547394.2_Missense_Mutation_p.S254L|CUX1_ENST00000425244.2_Missense_Mutation_p.S224L|CUX1_ENST00000556210.1_Missense_Mutation_p.S259L|CUX1_ENST00000292538.4_Missense_Mutation_p.S270L|CUX1_ENST00000550008.2_Missense_Mutation_p.S259L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.S259L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	259					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						CAGCTCTCATCGGCCAATCAC	0.587																																																	0													42.0	33.0	36.0					7																	101813778		2203	4299	6502	SO:0001583	missense	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.776C>T	7.37:g.101813778C>T	ENSP00000292535:p.Ser259Leu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	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.S270L	ENST00000292535.7	37	c.809	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900523	0.52227	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.41400	1.13;1.13;1.13;2.4;1.0;1.13;1.13;1.13;1.13;1.13	5.81	5.81	0.92471	.	0.147404	0.47455	D	0.000230	T	0.40546	0.1121	L	0.39397	1.21	0.49582	D	0.999805	B;B;B;B;B;B;B	0.21309	0.04;0.032;0.038;0.023;0.054;0.018;0.054	B;B;B;B;B;B;B	0.14023	0.004;0.004;0.005;0.006;0.007;0.003;0.01	T	0.19128	-1.0315	10	0.72032	D	0.01	-15.8167	20.0826	0.97783	0.0:1.0:0.0:0.0	.	233;259;224;254;270;270;270	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	L	270;254;270;224;270;259;259;259;259;259	ENSP00000292538:S270L;ENSP00000449371:S254L;ENSP00000353401:S270L;ENSP00000409745:S224L;ENSP00000414091:S270L;ENSP00000292535:S259L;ENSP00000446630:S259L;ENSP00000447373:S259L;ENSP00000450125:S259L;ENSP00000451558:S259L	ENSP00000292535:S259L	S	+	2	0	CUX1	101600498	1.000000	0.71417	0.802000	0.32245	0.826000	0.46750	5.290000	0.65661	2.746000	0.94184	0.655000	0.94253	TCG	CUX1	-	NULL		0.587	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	C	NM_001913		101813778	+1	no_errors	ENST00000360264	ensembl	human	known	70_37	missense	SNP	0.876	T
CYB5B	80777	genome.wustl.edu	37	16	69481063	69481063	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:69481063G>T	ENST00000512062.1	+	2	344	c.173G>T	c.(172-174)gGa>gTa	p.G58V	CYB5B_ENST00000561792.1_Missense_Mutation_p.G58V|CYB5B_ENST00000515314.1_Missense_Mutation_p.G58V|CYB5B_ENST00000307892.8_Missense_Mutation_p.G62V			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	58	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CACCCTGGAGGAGAAGAGGTT	0.448																																																	0													113.0	105.0	108.0					16																	69481063		1893	4114	6007	SO:0001583	missense	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.173G>T	16.37:g.69481063G>T	ENSP00000423679:p.Gly58Val		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.G62V	ENST00000512062.1	37	c.185		16	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762963	0.89932	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	D;D;D	0.89485	-2.52;-2.52;-2.52	5.33	5.33	0.75918	Cytochrome b5 (5);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.99922	4.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99755	1.1019	10	0.87932	D	0	0.0481	17.7919	0.88555	0.0:0.0:1.0:0.0	.	58;58;58	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	V	58;62;58	ENSP00000423679:G58V;ENSP00000308430:G62V;ENSP00000421492:G58V	ENSP00000308430:G62V	G	+	2	0	CYB5B	68038564	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.166000	0.94766	2.491000	0.84063	0.650000	0.86243	GGA	CYB5B	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5		0.448	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	G	NM_030579		69481063	+1	no_errors	ENST00000307892	ensembl	human	known	70_37	missense	SNP	1.000	T
CYB5B	80777	genome.wustl.edu	37	16	69481080	69481080	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:69481080G>A	ENST00000512062.1	+	2	361	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CYB5B_ENST00000561792.1_Missense_Mutation_p.E64K|CYB5B_ENST00000515314.1_Missense_Mutation_p.E64K|CYB5B_ENST00000307892.8_Missense_Mutation_p.E68K			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	64	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GGTTCTGCTGGAACAAGCTGG	0.443																																																	0													124.0	116.0	118.0					16																	69481080		1897	4120	6017	SO:0001583	missense	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.190G>A	16.37:g.69481080G>A	ENSP00000423679:p.Glu64Lys		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5,superfamily_Aquaporin-like,pfscan_Cyt_B5,prints_Cyt_B5	p.E68K	ENST00000512062.1	37	c.202		16	.	.	.	.	.	.	.	.	.	.	G	36	5.648321	0.96714	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	T;T;T	0.79845	-1.31;-1.31;-1.31	5.44	5.44	0.79542	Cytochrome b5 (5);	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	L	0.55213	1.73	0.80722	D	1	P;D;D	0.89917	0.933;1.0;0.975	P;D;P	0.87578	0.897;0.998;0.893	D	0.88807	0.3289	10	0.87932	D	0	-0.2438	18.0505	0.89347	0.0:0.0:1.0:0.0	.	64;64;64	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	K	64;68;64	ENSP00000423679:E64K;ENSP00000308430:E68K;ENSP00000421492:E64K	ENSP00000308430:E68K	E	+	1	0	CYB5B	68038581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.166000	0.94766	2.551000	0.86045	0.650000	0.86243	GAA	CYB5B	-	pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Cyt_B5		0.443	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	CYB5B	HGNC	protein_coding	OTTHUMT00000256606.2	G	NM_030579		69481080	+1	no_errors	ENST00000307892	ensembl	human	known	70_37	missense	SNP	1.000	A
CYP4F11	57834	genome.wustl.edu	37	19	16033213	16033213	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:16033213C>T	ENST00000402119.4	-	7	1372	c.946G>A	c.(946-948)Gag>Aag	p.E316K	CYP4F11_ENST00000326742.8_Missense_Mutation_p.E316K|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.E316K	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTTATGTCCTCATCAGACAAT	0.517																																																	0													247.0	209.0	222.0					19																	16033213		2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.946G>A	19.37:g.16033213C>T	ENSP00000384588:p.Glu316Lys			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E316K	ENST00000402119.4	37	c.946	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	c	13.39	2.223063	0.39300	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.70516	-0.49;-0.49;-0.49	2.61	2.61	0.31194	.	0.183499	0.34268	U	0.004113	T	0.65144	0.2663	L	0.50993	1.605	0.58432	D	0.99999	B;B	0.27823	0.001;0.19	B;B	0.34385	0.026;0.181	T	0.66015	-0.6028	10	0.46703	T	0.11	.	10.9184	0.47150	0.0:1.0:0.0:0.0	.	316;316	F8W978;Q9HBI6	.;CP4FB_HUMAN	K	316	ENSP00000384588:E316K;ENSP00000248041:E316K;ENSP00000319859:E316K	ENSP00000248041:E316K	E	-	1	0	CYP4F11	15894213	0.999000	0.42202	0.994000	0.49952	0.888000	0.51559	4.126000	0.57937	1.439000	0.47511	0.305000	0.20034	GAG	CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	C	NM_021187		16033213	-1	no_errors	ENST00000248041	ensembl	human	known	70_37	missense	SNP	1.000	T
DACT2	168002	genome.wustl.edu	37	6	168708148	168708148	+	Silent	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:168708148G>A	ENST00000366795.3	-	4	2377	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	DACT2_ENST00000607983.1_Silent_p.F355F|DACT2_ENST00000366796.3_Intron|DACT2_ENST00000610183.1_Silent_p.F593F	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	763					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		CCGTCGGCTGGAACCTGCGGA	0.627																																																	0													49.0	47.0	48.0					6																	168708148		692	1591	2283	SO:0001819	synonymous_variant	168002			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.2289C>T	6.37:g.168708148G>A			Q2NKJ2|Q569G0|Q8WYW2	Silent	SNP	NULL	p.F763	ENST00000366795.3	37	c.2289	CCDS47519.1	6																																																																																			DACT2	-	NULL		0.627	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	HGNC	protein_coding	OTTHUMT00000043193.1	G			168708148	-1	no_errors	ENST00000366795	ensembl	human	known	70_37	silent	SNP	1.000	A
DDRGK1	65992	genome.wustl.edu	37	20	3185217	3185217	+	Silent	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:3185217G>C	ENST00000354488.3	-	1	114	c.57C>G	c.(55-57)ctC>ctG	p.L19L	DDRGK1_ENST00000380201.2_Silent_p.L19L	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	19						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GAGTCAGGAAGAGGATAAAGC	0.637																																																	0													20.0	21.0	20.0					20																	3185217		2172	4263	6435	SO:0001819	synonymous_variant	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.57C>G	20.37:g.3185217G>C			A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	pfam_DDRGK_dom-contain	p.L19	ENST00000354488.3	37	c.57	CCDS13050.1	20																																																																																			DDRGK1	-	NULL		0.637	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	G	NM_023935		3185217	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	silent	SNP	0.630	C
DGKA	1606	genome.wustl.edu	37	12	56347184	56347184	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:56347184C>T	ENST00000331886.5	+	23	2568	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.T705M|DGKA_ENST00000551156.1_Missense_Mutation_p.T705M	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	705					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGATGCAGACGCCCTGTACA	0.468																																																	0													217.0	214.0	215.0					12																	56347184		2203	4300	6503	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2114C>T	12.37:g.56347184C>T	ENSP00000328405:p.Thr705Met		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.T705M	ENST00000331886.5	37	c.2114	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288784	0.59976	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	T;T;T	0.47528	0.84;0.84;0.84	4.71	4.71	0.59529	.	0.320719	0.32608	N	0.005861	T	0.33352	0.0860	N	0.12182	0.205	0.37550	D	0.918661	B	0.12630	0.006	B	0.14578	0.011	T	0.30327	-0.9982	10	0.59425	D	0.04	.	16.8197	0.85742	0.0:1.0:0.0:0.0	.	705	P23743	DGKA_HUMAN	M	705	ENSP00000328405:T705M;ENSP00000377703:T705M;ENSP00000450359:T705M	ENSP00000328405:T705M	T	+	2	0	DGKA	54633451	1.000000	0.71417	0.865000	0.33974	0.934000	0.57294	7.380000	0.79704	2.312000	0.78011	0.561000	0.74099	ACG	DGKA	-	NULL		0.468	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	C			56347184	+1	no_errors	ENST00000331886	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK8	81704	genome.wustl.edu	37	9	405010	405010	+	Silent	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:405010G>A	ENST00000453981.1	+	27	3439	c.3327G>A	c.(3325-3327)ctG>ctA	p.L1109L	DOCK8_ENST00000469391.1_Silent_p.L1009L|DOCK8_ENST00000432829.2_Silent_p.L1041L|DOCK8_ENST00000382331.1_Silent_p.L411L|DOCK8_ENST00000382329.1_Silent_p.L576L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1109					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTCAATCTGAACCTTTTTT	0.398																																																	0													132.0	114.0	120.0					9																	405010		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3327G>A	9.37:g.405010G>A			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L1109	ENST00000453981.1	37	c.3327	CCDS6440.2	9																																																																																			DOCK8	-	NULL		0.398	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	G	XM_036307		405010	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	silent	SNP	1.000	A
DRD2	1813	genome.wustl.edu	37	11	113283564	113283564	+	Silent	SNP	G	G	C	rs4986921	byFrequency	TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:113283564G>C	ENST00000362072.3	-	7	1196	c.852C>G	c.(850-852)ctC>ctG	p.L284L	DRD2_ENST00000538967.1_Silent_p.L286L|DRD2_ENST00000542968.1_Silent_p.L284L|DRD2_ENST00000535984.1_5'Flank|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.L255L|DRD2_ENST00000355319.2_Silent_p.L286L|DRD2_ENST00000544518.1_Silent_p.L283L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	284	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGTGCTGGAGAGCATCTCCA	0.667																																																	0													34.0	34.0	34.0					11																	113283564		2201	4295	6496	SO:0001819	synonymous_variant	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.852C>G	11.37:g.113283564G>C			Q9NZR3|Q9UPA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.L286	ENST00000362072.3	37	c.858	CCDS8361.1	11																																																																																			DRD2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D2_rcpt		0.667	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	G	NM_000795		113283564	-1	no_errors	ENST00000355319	ensembl	human	known	70_37	silent	SNP	0.978	C
DTX3L	151636	genome.wustl.edu	37	3	122288386	122288386	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:122288386G>T	ENST00000296161.4	+	3	1639	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	484					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TGTACACTTTGTGCTAAATCA	0.403																																																	0													105.0	100.0	102.0					3																	122288386		2203	4300	6503	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1450G>T	3.37:g.122288386G>T	ENSP00000296161:p.Val484Leu		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.V484L	ENST00000296161.4	37	c.1450	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	8.902	0.956530	0.18507	.	.	ENSG00000163840	ENST00000296161	T	0.30448	1.53	5.25	3.43	0.39272	.	1.371450	0.04843	N	0.440874	T	0.28863	0.0716	M	0.62723	1.935	0.09310	N	0.999999	B	0.26318	0.146	B	0.18871	0.023	T	0.34354	-0.9832	10	0.10377	T	0.69	-14.8007	6.1646	0.20384	0.0847:0.0:0.578:0.3373	.	484	Q8TDB6	DTX3L_HUMAN	L	484	ENSP00000296161:V484L	ENSP00000296161:V484L	V	+	1	0	DTX3L	123771076	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.042000	0.12063	0.778000	0.33520	-0.169000	0.13324	GTG	DTX3L	-	NULL		0.403	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	G	NM_138287		122288386	+1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	0.000	T
OR56B3P	401675	genome.wustl.edu	37	11	6150204	6150204	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:6150204G>C	ENST00000316517.2	+	1	365	c.365G>C	c.(364-366)aGa>aCa	p.R122T	RP11-290F24.3_ENST00000529961.1_RNA					olfactory receptor, family 56, subfamily B, member 3 pseudogene																		GCAGTGGATAGATATATGGCC	0.478																																																	0																																										SO:0001583	missense	0					11p15.4	2013-09-24			ENSG00000180913	ENSG00000180913		"""GPCR / Class A : Olfactory receptors"""	15247	pseudogene	pseudogene							Standard	NG_004390		Approved					ENST00000316517.2:c.365G>C	11.37:g.6150204G>C	ENSP00000321173:p.Arg122Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.R122T	ENST00000316517.2	37	c.365		11	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248002	0.59103	.	.	ENSG00000180913	ENST00000316517	T	0.77489	-1.1	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000038	D	0.87418	0.6172	.	.	.	.	.	.	.	.	.	.	.	.	D	0.88558	0.3121	6	0.87932	D	0	-3.5267	18.5413	0.91029	0.0:0.0:1.0:0.0	.	.	.	.	T	122	ENSP00000321173:R122T	ENSP00000321173:R122T	R	+	2	0	AC111177.1	6106780	0.994000	0.37717	0.994000	0.49952	0.076000	0.17211	6.122000	0.71608	2.697000	0.92050	0.650000	0.86243	AGA	AC111177.1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.478	OR56B3P-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000180913	Clone_based_ensembl_gene	protein_coding		G			6150204	+1	no_errors	ENST00000316517	ensembl	human	known	70_37	missense	SNP	1.000	C
TVP23C	201158	genome.wustl.edu	37	17	15468963	15468963	+	5'Flank	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:15468963G>C	ENST00000225576.3	-	0	0				TVP23C_ENST00000518321.1_5'Flank|TVP23C_ENST00000519970.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_5'Flank|TVP23C_ENST00000428082.2_5'Flank|TVP23C_ENST00000584811.1_5'Flank|CDRT1_ENST00000312127.2_Missense_Mutation_p.P206A|TVP23C_ENST00000438826.3_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											GCTTTTCCTGGATCAACCACT	0.517																																																	0																																										SO:0001631	upstream_gene_variant	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461		17.37:g.15468963G>C	Exception_encountered		Q3LIC7	Missense_Mutation	SNP	NULL	p.P206A	ENST00000225576.3	37	c.616	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	.	10.25	1.297894	0.23650	.	.	ENSG00000181464	ENST00000312127	T	0.80304	-1.36	4.04	1.94	0.25998	.	.	.	.	.	T	0.72898	0.3518	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.60632	-0.7225	6	0.36615	T	0.2	.	5.824	0.18544	0.0957:0.0:0.4436:0.4607	.	.	.	.	A	206	ENSP00000385268:P206A	ENSP00000385268:P206A	P	-	1	0	AC005838.1	15409688	0.094000	0.21725	0.069000	0.20011	0.931000	0.56810	1.629000	0.37071	0.279000	0.22186	0.449000	0.29647	CCA	CDRT1	-	NULL		0.517	TVP23C-001	KNOWN	basic|CCDS	protein_coding	ENSG00000181464	Uniprot_genename	protein_coding	OTTHUMT00000130705.2	G	NM_145301		15468963	-1	no_errors	ENST00000312127	ensembl	human	known	70_37	missense	SNP	0.016	C
LINC00999	399744	genome.wustl.edu	37	10	38737408	38737408	+	IGR	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:38737408C>G	ENST00000423687.1	+	0	992									long intergenic non-protein coding RNA 999																		GACGTCATCTCCGGGCCCAAA	0.562																																																	0																																										SO:0001628	intergenic_variant	0			AK128746		10p11.1	2013-07-23			ENSG00000225119			"""Long non-coding RNAs"""	38537	non-coding RNA	RNA, long non-coding							Standard	NR_024497		Approved	FLJ44672					10.37:g.38737408C>G				RNA	SNP	-	NULL	ENST00000423687.1	37	NULL		10																																																																																			RP11-291L22.3	-	-		0.562	LINC00999-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000225119	Clone_based_vega_gene	protein_coding		C	NR_024497		38737408	+1	no_errors	ENST00000447412	ensembl	human	known	70_37	rna	SNP	0.961	G
LINC00999	399744	genome.wustl.edu	37	10	38737434	38737434	+	IGR	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:38737434C>G	ENST00000423687.1	+	0	992									long intergenic non-protein coding RNA 999																		AAGTCAGACTCTCTAGTCCCA	0.562																																																	0																																										SO:0001628	intergenic_variant	0			AK128746		10p11.1	2013-07-23			ENSG00000225119			"""Long non-coding RNAs"""	38537	non-coding RNA	RNA, long non-coding							Standard	NR_024497		Approved	FLJ44672					10.37:g.38737434C>G				RNA	SNP	-	NULL	ENST00000423687.1	37	NULL		10																																																																																			RP11-291L22.3	-	-		0.562	LINC00999-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000225119	Clone_based_vega_gene	protein_coding		C	NR_024497		38737434	+1	no_errors	ENST00000447412	ensembl	human	known	70_37	rna	SNP	0.961	G
UPK3B	80761	genome.wustl.edu	37	7	76532184	76532184	+	Intron	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:76532184C>T	ENST00000419923.2	+	6	1408				UPK3B_ENST00000443097.2_Intron|AC007003.1_ENST00000472463.1_RNA			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CTTCAAGCTTCTTAGAGTTCC	0.383																																																	0																																										SO:0001627	intron_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000419923.2:c.961-115957C>T	7.37:g.76532184C>T			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	SNP	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			AC007003.1	-	-		0.383	UPK3B-201	KNOWN	basic|CCDS	protein_coding	ENSG00000231183	Clone_based_vega_gene	protein_coding		C	NM_030570		76532184	+1	no_errors	ENST00000472463	ensembl	human	known	70_37	rna	SNP	0.001	T
MUC12	10071	genome.wustl.edu	37	7	100660835	100660835	+	Intron	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:100660835C>T	ENST00000379442.3	+	14	16306				MUC12_ENST00000467414.1_Intron|MUC12_ENST00000536621.1_Intron|MUC17_ENST00000306151.4_5'Flank|RP11-395B7.4_ENST00000441882.1_RNA|RP11-395B7.4_ENST00000448513.1_RNA			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TCCCATCACTCATCACGGCCT	0.587																																																	0													49.0	53.0	51.0					7																	100660835		692	1591	2283	SO:0001627	intron_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.16307-21C>T	7.37:g.100660835C>T			A6ND38|F5GWV9|Q9UKN0	RNA	SNP	-	NULL	ENST00000379442.3	37	NULL		7																																																																																			RP11-395B7.4	-	-		0.587	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	ENSG00000227053	Clone_based_vega_gene	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100660835	-1	no_errors	ENST00000441882	ensembl	human	known	70_37	rna	SNP	0.010	T
TIAL1	7073	genome.wustl.edu	37	10	121333127	121333127	+	IGR	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:121333127C>G	ENST00000436547.2	-	0	1401				TIAL1_ENST00000463089.2_5'Flank	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GCATTTTTATCAATTAAAAAA	0.313																																																	0																																										SO:0001628	intergenic_variant	0			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156		10.37:g.121333127C>G			A8K3T0|A8K4L9	RNA	SNP	-	NULL	ENST00000436547.2	37	NULL	CCDS7613.1	10																																																																																			RP11-179H18.2	-	-		0.313	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233177	Clone_based_vega_gene	protein_coding	OTTHUMT00000050672.2	C	NM_022333, NM_003252		121333127	+1	no_errors	ENST00000448423	ensembl	human	known	70_37	rna	SNP	0.006	G
LINC01000	402483	genome.wustl.edu	37	1	133436	133436	+	IGR	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:133436G>C	ENST00000423372.3	-	0	2661																											AGAGTCACGTGAGGCTGAGAG	0.672																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.133436G>C				RNA	SNP	-	NULL	ENST00000423372.3	37	NULL		1																																																																																			RP11-34P13.7	-	-		0.672	AL627309.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000238009	Clone_based_vega_gene	protein_coding		G			133436	-1	no_errors	ENST00000453576	ensembl	human	known	70_37	rna	SNP	1.000	C
NAV1	89796	genome.wustl.edu	37	1	201693808	201693808	+	Intron	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:201693808C>G	ENST00000367296.4	+	3	1646				RP11-90L20.2_ENST00000429443.1_RNA|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000295624.6_Intron|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCAGGCTCCATCTTGAGC	0.572																																																	0																																										SO:0001627	intron_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1226+5925C>G	1.37:g.201693808C>G			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	RNA	SNP	-	NULL	ENST00000367296.4	37	NULL	CCDS1414.2	1																																																																																			RP11-90L20.2	-	-		0.572	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000235121	Clone_based_vega_gene	protein_coding	OTTHUMT00000087013.1	C	NM_020443		201693808	-1	no_errors	ENST00000429443	ensembl	human	known	70_37	rna	SNP	0.121	G
GOLGA8EP	390535	genome.wustl.edu	37	15	23443813	23443813	+	RNA	SNP	C	C	T	rs201240063		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:23443813C>T	ENST00000526079.1	+	0	1650				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		aactcccacaccgaccagtag	0.537																																																	0																																												0					15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23443813C>T				RNA	SNP	-	NULL	ENST00000526079.1	37	NULL		15																																																																																			Metazoa_SRP	-	-		0.537	GOLGA8EP-002	KNOWN	basic	processed_transcript	ENSG00000242962	RFAM	pseudogene	OTTHUMT00000393312.1	C	NR_033350.1		23443813	+1	no_errors	ENST00000488468	ensembl	human	novel	70_37	rna	SNP	0.009	T
TUB	7275	genome.wustl.edu	37	11	8061147	8061147	+	Intron	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:8061147G>A	ENST00000305253.4	+	2	396				RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor						multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ATGATGAGGTGAGGCTGCAAG	0.572																																																	0													65.0	40.0	48.0					11																	8061147		2193	4286	6479	SO:0001627	intron_variant	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.156-45G>A	11.37:g.8061147G>A			D3DQU4|O00293|Q6B007	RNA	SNP	-	NULL	ENST00000305253.4	37	NULL	CCDS7786.1	11																																																																																			RP11-236J17.6	-	-		0.572	TUB-002	KNOWN	basic|CCDS	protein_coding	ENSG00000254921	Clone_based_vega_gene	protein_coding	OTTHUMT00000385822.1	G	NM_003320		8061147	-1	no_errors	ENST00000526646	ensembl	human	known	70_37	rna	SNP	0.000	A
TMEM260	54916	genome.wustl.edu	37	14	57114462	57114462	+	3'UTR	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:57114462C>G	ENST00000261556.6	+	0	2493				RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260							integral component of membrane (GO:0016021)											GAAAAGTCTTCTGACTTCCAG	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.*247C>G	14.37:g.57114462C>G			A8KAN4|B3KPF5|Q86XE1	RNA	SNP	-	NULL	ENST00000261556.6	37	NULL	CCDS9727.2	14																																																																																			RP11-1085N6.2	-	-		0.363	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258428	Clone_based_vega_gene	protein_coding	OTTHUMT00000276924.1	C	NM_017799		57114462	-1	no_errors	ENST00000553800	ensembl	human	known	70_37	rna	SNP	0.002	G
AL133373.1	0	genome.wustl.edu	37	14	92040832	92040832	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:92040832C>G	ENST00000596306.1	-	1	551	c.125G>C	c.(124-126)cGa>cCa	p.R42P																								CCCGACAACTCGTGGGAGTGC	0.622																																																	0													20.0	22.0	22.0					14																	92040832		1952	4146	6098	SO:0001583	missense	0																														ENST00000596306.1:c.125G>C	14.37:g.92040832C>G	ENSP00000472226:p.Arg42Pro			Missense_Mutation	SNP	NULL	p.R42P	ENST00000596306.1	37	c.125		14	.	.	.	.	.	.	.	.	.	.	C	3.067	-0.192044	0.06299	.	.	ENSG00000247097	ENST00000498919	.	.	.	0.82	-1.64	0.08318	.	.	.	.	.	T	0.37046	0.0989	.	.	.	.	.	.	.	.	.	.	.	.	T	0.40590	-0.9555	4	0.87932	D	0	.	3.4737	0.07577	0.5492:0.2397:0.2111:0.0	.	.	.	.	P	42	.	ENSP00000420823:R42P	R	-	2	0	AL133373.1	91110585	0.001000	0.12720	0.000000	0.03702	0.172000	0.22775	-1.157000	0.03157	-1.989000	0.00979	-0.676000	0.03789	CGA	AL133373.1	-	NULL		0.622	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268657	Clone_based_ensembl_gene	protein_coding		C			92040832	-1	no_errors	ENST00000596306	ensembl	human	known	70_37	missense	SNP	0.000	G
PINLYP	390940	genome.wustl.edu	37	19	44079628	44079628	+	5'Flank	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:44079628C>T	ENST00000599207.1	+	0	0				L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000543982.1_5'UTR|L34079.4_ENST00000600242.1_RNA|XRCC1_ENST00000262887.5_5'UTR	NM_001193621.1	NP_001180550.1	A6NC86	PINLY_HUMAN	phospholipase A2 inhibitor and LY6/PLAUR domain containing							extracellular region (GO:0005576)	phospholipase inhibitor activity (GO:0004859)										TCGTGGGCTTCGCCTGGCCAG	0.672																																																	0													34.0	34.0	34.0					19																	44079628		2203	4300	6503	SO:0001631	upstream_gene_variant	0				CCDS58667.1, CCDS74385.1	19q13.31	2012-07-20			ENSG00000234465	ENSG00000234465			44206	protein-coding gene	gene with protein product							Standard	NM_001193621		Approved		uc021uvg.1	A6NC86	OTTHUMG00000175560		19.37:g.44079628C>T	Exception_encountered		B7Z457|O95053	RNA	SNP	-	NULL	ENST00000599207.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464830	0.26335	.	.	ENSG00000073050	ENST00000458471	.	.	.	4.97	-1.28	0.09318	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	T	0.37957	-0.9683	5	0.87932	D	0	.	0.9413	0.01356	0.1627:0.4054:0.1584:0.2734	.	.	.	.	K	9	.	ENSP00000390874:E9K	E	-	1	0	XRCC1	48771468	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.070000	0.11523	0.087000	0.17167	0.655000	0.94253	GAA	L34079.4	-	-		0.672	PINLYP-005	NOVEL	basic|appris_principal	protein_coding	ENSG00000269583	Clone_based_vega_gene	protein_coding	OTTHUMT00000463346.2	C	NM_001193621		44079628	+1	no_errors	ENST00000600242	ensembl	human	known	70_37	rna	SNP	0.000	T
EPHA3	2042	genome.wustl.edu	37	3	89468499	89468499	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:89468499A>C	ENST00000336596.2	+	11	2258	c.2033A>C	c.(2032-2034)gAc>gCc	p.D678A	EPHA3_ENST00000494014.1_Missense_Mutation_p.D678A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGACAGTTTGACCACCCCAAT	0.418										TSP Lung(6;0.00050)																																							0													117.0	108.0	111.0					3																	89468499		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2033A>C	3.37:g.89468499A>C	ENSP00000337451:p.Asp678Ala		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D678A	ENST00000336596.2	37	c.2033	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785849	0.90282	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.63580	-0.05;-0.05	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.35723	1.085	0.80722	D	1	P	0.37500	0.597	B	0.40677	0.337	T	0.54344	-0.8308	9	.	.	.	.	15.979	0.80091	1.0:0.0:0.0:0.0	.	678	P29320	EPHA3_HUMAN	A	678	ENSP00000337451:D678A;ENSP00000419190:D678A	.	D	+	2	0	EPHA3	89551189	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.182000	0.69389	0.460000	0.39030	GAC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	A	NM_005233		89468499	+1	no_errors	ENST00000336596	ensembl	human	known	70_37	missense	SNP	1.000	C
ERP27	121506	genome.wustl.edu	37	12	15068652	15068652	+	Intron	SNP	C	C	G	rs373734679		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:15068652C>G	ENST00000266397.2	-	6	1150				ERP27_ENST00000544881.1_5'UTR|ERP27_ENST00000540097.1_Intron	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27							endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						AGAAAAAGTTCTATCTGAGGT	0.373																																																	0													32.0	33.0	32.0					12																	15068652		2203	4300	6503	SO:0001627	intron_variant	121506			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.577-32G>C	12.37:g.15068652C>G				RNA	SNP	-	NULL	ENST00000266397.2	37	NULL	CCDS8670.1	12																																																																																			ERP27	-	-		0.373	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	C	NM_152321		15068652	-1	no_errors	ENST00000544881	ensembl	human	putative	70_37	rna	SNP	0.000	G
ETV2	2116	genome.wustl.edu	37	19	36133941	36133941	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:36133941G>A	ENST00000403402.1	+	3	535	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	ETV2_ENST00000402764.2_Missense_Mutation_p.G77R|ETV2_ENST00000479824.1_5'UTR|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Missense_Mutation_p.G105R			O00321	ETV2_HUMAN	ets variant 2	77					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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)			lung(2)	2	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)			AGTTCCATGGGGGGCGGGTGA	0.617																																																	0													17.0	15.0	16.0					19																	36133941		2200	4292	6492	SO:0001583	missense	2116			AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.229G>A	19.37:g.36133941G>A	ENSP00000385369:p.Gly77Arg		A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.G77R	ENST00000403402.1	37	c.229	CCDS32995.2	19	.	.	.	.	.	.	.	.	.	.	g	22.9	4.347030	0.82022	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.20463	2.07;2.09;2.09	5.06	4.01	0.46588	.	2.325830	0.01310	N	0.010597	T	0.31827	0.0809	L	0.27053	0.805	0.23282	N	0.997981	D;P	0.61697	0.99;0.931	P;P	0.54856	0.687;0.762	T	0.39078	-0.9631	10	0.66056	D	0.02	.	11.6305	0.51171	0.0:0.1779:0.8221:0.0	.	105;77	A6NFN5;B9EIN1	.;.	R	105;77;77;77	ENSP00000368312:G105R;ENSP00000384524:G77R;ENSP00000385369:G77R	ENSP00000368307:G77R	G	+	1	0	ETV2	40825781	1.000000	0.71417	0.548000	0.28192	0.674000	0.39518	2.989000	0.49393	1.346000	0.45694	0.550000	0.68814	GGG	ETV2	-	NULL		0.617	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ETV2	HGNC	protein_coding	OTTHUMT00000318848.2	G	XM_209182		36133941	+1	no_errors	ENST00000402764	ensembl	human	known	70_37	missense	SNP	0.913	A
FAM98A	25940	genome.wustl.edu	37	2	33820590	33820590	+	Silent	SNP	G	G	A	rs370123548		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:33820590G>A	ENST00000238823.8	-	2	308	c.168C>T	c.(166-168)ctC>ctT	p.L56L	FAM98A_ENST00000403368.1_Silent_p.L56L|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	56							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTAGTTTACAGAGCACTCTTA	0.423																																																	0													115.0	114.0	114.0					2																	33820590		2203	4300	6503	SO:0001819	synonymous_variant	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.168C>T	2.37:g.33820590G>A			B2RNA2|Q9Y3Y6	Silent	SNP	pfam_Uncharacterised_FAM98	p.L56	ENST00000238823.8	37	c.168	CCDS33179.1	2																																																																																			FAM98A	-	pfam_Uncharacterised_FAM98		0.423	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	G	NM_015475		33820590	-1	no_errors	ENST00000238823	ensembl	human	known	70_37	silent	SNP	1.000	A
FBXW7	55294	genome.wustl.edu	37	4	153247367	153247367	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:153247367G>C	ENST00000281708.4	-	10	2664	c.1435C>G	c.(1435-1437)Cga>Gga	p.R479G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479*(4)|p.R479G(3)|p.R240*(2)|p.R479R(2)|p.R399*(2)|p.R399R(1)|p.?(1)|p.R361R(1)|p.R361*(1)|p.R240R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTGGCATCTCGAGAACCGCTA	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	18	Substitution - Nonsense(9)|Substitution - coding silent(5)|Substitution - Missense(3)|Unknown(1)	lung(10)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(1)											83.0	78.0	79.0					4																	153247367		2203	4299	6502	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1435C>G	4.37:g.153247367G>C	ENSP00000281708:p.Arg479Gly		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R479G	ENST00000281708.4	37	c.1435	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174750	0.78452	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.72	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	N	0.11673	0.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.58411	-0.7641	10	0.87932	D	0	-12.7081	15.6805	0.77364	0.0:0.0:0.8491:0.1508	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	479;361;399;303	ENSP00000281708:R479G;ENSP00000296555:R361G;ENSP00000263981:R399G;ENSP00000377528:R303G	ENSP00000263981:R399G	R	-	1	2	FBXW7	153466817	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.541000	0.73865	1.492000	0.48499	0.650000	0.86243	CGA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247367	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C
GBP7	388646	genome.wustl.edu	37	1	89618015	89618015	+	Silent	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:89618015C>G	ENST00000294671.2	-	5	699	c.561G>C	c.(559-561)ctG>ctC	p.L187L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	187	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CATCTAACTTCAGCTCCAGGG	0.468																																																	0													142.0	141.0	141.0					1																	89618015		2203	4300	6503	SO:0001819	synonymous_variant	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.561G>C	1.37:g.89618015C>G				Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.L187	ENST00000294671.2	37	c.561	CCDS720.1	1																																																																																			GBP7	-	pfam_Guanylate-bd_N		0.468	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	C	NM_207398		89618015	-1	no_errors	ENST00000294671	ensembl	human	known	70_37	silent	SNP	0.995	G
FMO6P	388714	genome.wustl.edu	37	1	171121215	171121215	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:171121215G>C	ENST00000236166.3	+	6	1104	c.994G>C	c.(994-996)Gat>Cat	p.D332H				O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene	332						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)										AACAGGCTATGATTATTCCTA	0.463																																																	0																																										SO:0001583	missense	388714			AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.994G>C	1.37:g.171121215G>C	ENSP00000236166:p.Asp332His			Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.D332H	ENST00000236166.3	37	c.994		1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541086	0.45280	.	.	ENSG00000117507	ENST00000236166	.	.	.	5.19	-1.16	0.09678	.	1.496670	0.04111	N	0.314542	T	0.07638	0.0192	.	.	.	0.09310	N	1	B	0.21381	0.055	B	0.12156	0.007	T	0.22591	-1.0212	8	0.38643	T	0.18	2.9028	2.5984	0.04860	0.5076:0.1283:0.2332:0.1309	.	332	O60774	FMO6_HUMAN	H	332	.	ENSP00000236166:D332H	D	+	1	0	FMO6P	169387839	0.008000	0.16893	0.003000	0.11579	0.906000	0.53458	0.250000	0.18235	-0.262000	0.09392	0.460000	0.39030	GAT	FMO6P	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase		0.463	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	HGNC	protein_coding	OTTHUMT00000385941.4	G	XM_371326		171121215	+1	no_errors	ENST00000236166	ensembl	human	novel	70_37	missense	SNP	0.069	C
FMO1	2326	genome.wustl.edu	37	1	171244628	171244628	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:171244628G>C	ENST00000354841.4	+	3	596	c.465G>C	c.(463-465)ttG>ttC	p.L155F	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.L155F|FMO1_ENST00000402921.2_Missense_Mutation_p.L92F	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	155					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATCCTTATTTGCCACTGGATT	0.443																																																	0													163.0	151.0	156.0					1																	171244628		2203	4300	6503	SO:0001583	missense	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.465G>C	1.37:g.171244628G>C	ENSP00000346901:p.Leu155Phe		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.L155F	ENST00000354841.4	37	c.465	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702040	0.30232	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.36	2.5	0.30297	.	0.174801	0.34133	N	0.004226	T	0.55417	0.1919	M	0.67569	2.06	0.45554	D	0.998506	D;B;D	0.76494	0.999;0.267;0.996	D;B;D	0.68765	0.96;0.151;0.928	T	0.56086	-0.8037	10	0.44086	T	0.13	-6.2331	5.1461	0.14985	0.2323:0.0:0.6237:0.144	.	92;155;155	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	F	155;155;92;155	ENSP00000356724:L155F;ENSP00000406982:L155F;ENSP00000385543:L92F;ENSP00000346901:L155F	ENSP00000346901:L155F	L	+	3	2	FMO1	169511252	1.000000	0.71417	0.879000	0.34478	0.387000	0.30353	0.638000	0.24674	0.342000	0.23796	-0.259000	0.10710	TTG	FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase		0.443	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	G	NM_002021		171244628	+1	no_errors	ENST00000354841	ensembl	human	known	70_37	missense	SNP	1.000	C
GEN1	348654	genome.wustl.edu	37	2	17962884	17962884	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:17962884C>G	ENST00000381254.2	+	14	2619	c.2405C>G	c.(2404-2406)tCt>tGt	p.S802C	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.S802C	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	802					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGACATTCCTCTGATGAACAA	0.373								Homologous recombination																																									0													83.0	84.0	84.0					2																	17962884		2203	4300	6503	SO:0001583	missense	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2405C>G	2.37:g.17962884C>G	ENSP00000370653:p.Ser802Cys		Q17RS9|Q6ZN37	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.S802C	ENST00000381254.2	37	c.2405	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201427	0.79015	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.45668	0.89;0.89	5.32	5.32	0.75619	.	0.273612	0.26258	N	0.025411	T	0.62636	0.2444	M	0.69823	2.125	0.39058	D	0.960477	D	0.71674	0.998	D	0.62955	0.909	T	0.67791	-0.5579	10	0.87932	D	0	-14.2673	17.1785	0.86848	0.0:1.0:0.0:0.0	.	802	Q17RS7	GEN_HUMAN	C	802;802;439	ENSP00000318977:S802C;ENSP00000370653:S802C	ENSP00000318977:S802C	S	+	2	0	GEN1	17826365	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.743000	0.38258	2.678000	0.91216	0.655000	0.94253	TCT	GEN1	-	NULL		0.373	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	C	NM_182625		17962884	+1	no_errors	ENST00000317402	ensembl	human	known	70_37	missense	SNP	1.000	G
GCKR	2646	genome.wustl.edu	37	2	27726397	27726397	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:27726397G>C	ENST00000264717.2	+	9	724	c.661G>C	c.(661-663)Gac>Cac	p.D221H	GCKR_ENST00000424318.2_Missense_Mutation_p.D31H	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	221	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCCCATTGAAGACTGGAGTTC	0.498																																																	0													89.0	73.0	78.0					2																	27726397		2203	4300	6503	SO:0001583	missense	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.661G>C	2.37:g.27726397G>C	ENSP00000264717:p.Asp221His		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	NULL	p.D221H	ENST00000264717.2	37	c.661	CCDS1757.1	2	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302652	0.60195	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.46063	0.88;0.88	4.33	4.33	0.51752	Sugar isomerase (SIS) (1);	0.212203	0.39687	N	0.001283	T	0.51075	0.1653	L	0.34521	1.04	0.35345	D	0.786865	D;D;D	0.76494	0.999;0.989;0.995	D;P;P	0.67382	0.951;0.834;0.871	T	0.62416	-0.6859	10	0.52906	T	0.07	-3.6563	14.3628	0.66785	0.0:0.0:1.0:0.0	.	31;221;221	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	H	221;31	ENSP00000264717:D221H;ENSP00000409109:D31H	ENSP00000264717:D221H	D	+	1	0	GCKR	27579901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.916000	0.56416	2.223000	0.72356	0.462000	0.41574	GAC	GCKR	-	NULL		0.498	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	G	NM_001486		27726397	+1	no_errors	ENST00000264717	ensembl	human	known	70_37	missense	SNP	1.000	C
GCG	2641	genome.wustl.edu	37	2	163005610	163005610	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:163005610C>T	ENST00000418842.2	-	2	333	c.79G>A	c.(79-81)Gag>Aag	p.E27K	GCG_ENST00000375497.3_Missense_Mutation_p.E27K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	27					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						GATTTCTCCTCTGTGTCTTGA	0.393																																																	0													145.0	139.0	141.0					2																	163005610		1864	4101	5965	SO:0001583	missense	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.79G>A	2.37:g.163005610C>T	ENSP00000387662:p.Glu27Lys		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.E27K	ENST00000418842.2	37	c.79	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995948	0.93167	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.51071	0.72;0.72	5.1	5.1	0.69264	.	0.219310	0.46442	D	0.000291	T	0.68760	0.3036	M	0.73598	2.24	0.54753	D	0.999987	D	0.71674	0.998	D	0.65874	0.939	T	0.72561	-0.4256	10	0.87932	D	0	-0.2274	18.7028	0.91627	0.0:1.0:0.0:0.0	.	27	P01275	GLUC_HUMAN	K	27	ENSP00000387662:E27K;ENSP00000364647:E27K	ENSP00000364647:E27K	E	-	1	0	GCG	162713856	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.343000	0.72986	2.663000	0.90544	0.591000	0.81541	GAG	GCG	-	NULL		0.393	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	C	NM_002054		163005610	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	missense	SNP	1.000	T
GMIP	51291	genome.wustl.edu	37	19	19746372	19746372	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:19746372C>G	ENST00000203556.4	-	15	1549	c.1412G>C	c.(1411-1413)gGa>gCa	p.G471A	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.G445A|GMIP_ENST00000445806.2_Missense_Mutation_p.G442A	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	471					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGCCCGTCTCCCAGGTCTGC	0.672																																																	0													57.0	57.0	57.0					19																	19746372		2203	4300	6503	SO:0001583	missense	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1412G>C	19.37:g.19746372C>G	ENSP00000203556:p.Gly471Ala		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G471A	ENST00000203556.4	37	c.1412	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411710	0.11812	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.21734	2.04;1.99	4.59	1.12	0.20585	.	0.527213	0.15810	N	0.243535	T	0.12603	0.0306	L	0.32530	0.975	0.30526	N	0.767905	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.38607	-0.9653	10	0.07482	T	0.82	-3.6929	9.339	0.38067	0.1539:0.3967:0.4494:0.0	.	442;445;471	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	A	471;442	ENSP00000203556:G471A;ENSP00000397075:G442A	ENSP00000203556:G471A	G	-	2	0	GMIP	19607372	0.003000	0.15002	0.985000	0.45067	0.960000	0.62799	0.023000	0.13533	0.033000	0.15463	-0.225000	0.12378	GGA	GMIP	-	NULL		0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	C	NM_016573		19746372	-1	no_errors	ENST00000203556	ensembl	human	known	70_37	missense	SNP	0.908	G
GREB1	9687	genome.wustl.edu	37	2	11778841	11778841	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:11778841C>G	ENST00000381486.2	+	32	5892	c.5592C>G	c.(5590-5592)atC>atG	p.I1864M	GREB1_ENST00000234142.5_Missense_Mutation_p.I1864M|GREB1_ENST00000396123.1_Missense_Mutation_p.I862M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1864						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTAAACATCAGCTGCTCGG	0.433																																					Ovarian(39;850 945 2785 23371 33093)												0													124.0	116.0	118.0					2																	11778841		1909	4115	6024	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5592C>G	2.37:g.11778841C>G	ENSP00000370896:p.Ile1864Met		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.I1864M	ENST00000381486.2	37	c.5592	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991201	0.54041	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.25085	3.14;3.14;1.82	5.24	5.24	0.73138	.	0.108250	0.64402	D	0.000009	T	0.27900	0.0687	L	0.54323	1.7	0.44012	D	0.99672	P	0.35174	0.488	B	0.39503	0.301	T	0.06215	-1.0839	10	0.59425	D	0.04	-14.3161	9.5499	0.39304	0.0:0.8441:0.0:0.1559	.	1864	Q4ZG55	GREB1_HUMAN	M	1864;1864;862	ENSP00000370896:I1864M;ENSP00000234142:I1864M;ENSP00000379429:I862M	ENSP00000234142:I1864M	I	+	3	3	GREB1	11696292	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	1.685000	0.37659	2.428000	0.82296	0.650000	0.86243	ATC	GREB1	-	NULL		0.433	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	C	NM_014668		11778841	+1	no_errors	ENST00000234142	ensembl	human	known	70_37	missense	SNP	1.000	G
GRM7	2917	genome.wustl.edu	37	3	7188329	7188329	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:7188329C>T	ENST00000357716.4	+	2	984	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GRM7_ENST00000403881.1_Missense_Mutation_p.S237F|GRM7_ENST00000389336.4_Missense_Mutation_p.S237F|GRM7_ENST00000486284.1_Missense_Mutation_p.S237F|GRM7_ENST00000402647.2_Missense_Mutation_p.S237F	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	237					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGTGTGGAGTCCTTCACGCAG	0.483																																																	0													77.0	79.0	78.0					3																	7188329		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.710C>T	3.37:g.7188329C>T	ENSP00000350348:p.Ser237Phe		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.S237F	ENST00000357716.4	37	c.710	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.099383	0.94197	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.057834	0.64402	D	0.000001	D	0.86648	0.5983	L	0.58510	1.815	0.80722	D	1	P;P;B	0.40794	0.729;0.6;0.263	P;B;P	0.48598	0.576;0.404;0.583	D	0.86835	0.2013	10	0.87932	D	0	.	19.1458	0.93467	0.0:1.0:0.0:0.0	.	237;237;237	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	F	29;237;237;237;237;237;237;237	ENSP00000393799:S29F;ENSP00000350348:S237F;ENSP00000417536:S237F;ENSP00000373987:S237F;ENSP00000385664:S237F;ENSP00000384585:S237F	ENSP00000350348:S237F	S	+	2	0	GRM7	7163329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	TCC	GRM7	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.483	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	C	NM_000844		7188329	+1	no_errors	ENST00000402647	ensembl	human	known	70_37	missense	SNP	1.000	T
GTPBP4	23560	genome.wustl.edu	37	10	1061781	1061781	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:1061781G>A	ENST00000360803.4	+	16	1779	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	GTPBP4_ENST00000538293.1_Missense_Mutation_p.R450Q|GTPBP4_ENST00000545048.1_Missense_Mutation_p.R519Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	566					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCTGTGGCCCGGAGTGGGAGT	0.522																																																	0													159.0	144.0	149.0					10																	1061781		2203	4300	6503	SO:0001583	missense	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1697G>A	10.37:g.1061781G>A	ENSP00000354040:p.Arg566Gln		B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.R566Q	ENST00000360803.4	37	c.1697	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407270	0.62399	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.37752	1.18;1.26;1.2	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.76328	2.33	0.80722	D	1	P	0.45634	0.863	B	0.36092	0.217	T	0.52411	-0.8579	10	0.66056	D	0.02	-17.2106	19.7591	0.96306	0.0:0.0:1.0:0.0	.	566	Q9BZE4	NOG1_HUMAN	Q	566;450;519	ENSP00000354040:R566Q;ENSP00000444277:R450Q;ENSP00000445473:R519Q	ENSP00000354040:R566Q	R	+	2	0	GTPBP4	1051781	1.000000	0.71417	0.964000	0.40570	0.175000	0.22909	5.118000	0.64673	2.671000	0.90904	0.591000	0.81541	CGG	GTPBP4	-	NULL		0.522	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	G	NM_012341		1061781	+1	no_errors	ENST00000360803	ensembl	human	known	70_37	missense	SNP	1.000	A
GUCY1A3	2982	genome.wustl.edu	37	4	156643280	156643280	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:156643280C>T	ENST00000296518.7	+	9	2016	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	GUCY1A3_ENST00000511507.1_Silent_p.L603L|GUCY1A3_ENST00000455639.2_Silent_p.L603L|GUCY1A3_ENST00000393832.3_Silent_p.L345L|GUCY1A3_ENST00000506455.1_Silent_p.L603L|GUCY1A3_ENST00000513574.1_Silent_p.L603L|GUCY1A3_ENST00000511108.1_Silent_p.L603L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	603	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAATGTCACTCTGGCTAACAA	0.403																																																	0													173.0	166.0	169.0					4																	156643280		2203	4300	6503	SO:0001819	synonymous_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1807C>T	4.37:g.156643280C>T			D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L603	ENST00000296518.7	37	c.1807	CCDS34085.1	4																																																																																			GUCY1A3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.403	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	C			156643280	+1	no_errors	ENST00000296518	ensembl	human	known	70_37	silent	SNP	1.000	T
HDAC6	10013	genome.wustl.edu	37	X	48661072	48661072	+	5'UTR	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:48661072C>T	ENST00000334136.5	+	0	151				HDAC6_ENST00000469223.1_Intron|HDAC6_ENST00000376619.2_5'UTR|HDAC6_ENST00000413163.2_Intron|HDAC6_ENST00000444343.2_Silent_p.N5N			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6						aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCCCCAGAACCGCGGCAGGG	0.642																																					Pancreas(112;205 1675 2305 8976 15959)												0													26.0	24.0	25.0					X																	48661072		2192	4281	6473	SO:0001623	5_prime_UTR_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.-28C>T	X.37:g.48661072C>T			O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.N5	ENST00000334136.5	37	c.15	CCDS14306.1	X																																																																																			HDAC6	-	NULL		0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48661072	+1	no_errors	ENST00000444343	ensembl	human	known	70_37	silent	SNP	0.000	T
GUCY2F	2986	genome.wustl.edu	37	X	108696910	108696910	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:108696910G>A	ENST00000218006.2	-	4	1502	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	404					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TACATATTCTGAAATTCCATT	0.478																																																	0													150.0	110.0	124.0					X																	108696910		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1211C>T	X.37:g.108696910G>A	ENSP00000218006:p.Ser404Leu		Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.S404L	ENST00000218006.2	37	c.1211	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	6.057	0.378804	0.11466	.	.	ENSG00000101890	ENST00000218006	D	0.82711	-1.64	3.97	3.97	0.46021	Extracellular ligand-binding receptor (1);	0.430726	0.23426	N	0.048309	T	0.65312	0.2679	N	0.10809	0.05	0.26665	N	0.971833	B	0.02656	0.0	B	0.04013	0.001	T	0.44922	-0.9296	10	0.10377	T	0.69	.	12.9747	0.58531	0.0:0.0:1.0:0.0	.	404	P51841	GUC2F_HUMAN	L	404	ENSP00000218006:S404L	ENSP00000218006:S404L	S	-	2	0	GUCY2F	108583566	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.140000	0.42159	2.220000	0.72140	0.506000	0.49869	TCA	GUCY2F	-	pfam_ANF_lig-bd_rcpt		0.478	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108696910	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	0.988	A
HDDC2	51020	genome.wustl.edu	37	6	125621802	125621803	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:125621802_125621803delCT	ENST00000398153.2	-	2	129_130	c.87_88delAG	c.(85-90)agagtcfs	p.RV29fs	HDDC2_ENST00000368377.4_Frame_Shift_Del_p.RV29fs|HDDC2_ENST00000608284.1_Frame_Shift_Del_p.RV29fs|HDDC2_ENST00000608295.1_Frame_Shift_Del_p.RV29fs	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	29						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GTTCGTGGGACTCTCTGATAAA	0.416																																																	0																																										SO:0001589	frameshift_variant	51020			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.87_88delAG	6.37:g.125621806_125621807delCT	ENSP00000381220:p.Arg29fs		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Frame_Shift_Del	DEL	pfam_HD_domain,smart_HD/PDEase_dom	p.R29fs	ENST00000398153.2	37	c.88_87	CCDS43503.1	6																																																																																			HDDC2	-	NULL		0.416	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HDDC2	HGNC	protein_coding	OTTHUMT00000472493.1	CT	NM_016063		125621803	-1	no_errors	ENST00000398153	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.998	-
HDHD1	8226	genome.wustl.edu	37	X	7023850	7023850	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:7023850G>C	ENST00000381077.5	-	2	167	c.91C>G	c.(91-93)Caa>Gaa	p.Q31E	HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Missense_Mutation_p.Q31E|HDHD1_ENST00000424830.2_Missense_Mutation_p.Q54E|HDHD1_ENST00000540122.1_Missense_Mutation_p.Q31E	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	31					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CATATTTCTTGAAACACCACT	0.388																																																	0													48.0	40.0	43.0					X																	7023850		1842	4080	5922	SO:0001583	missense	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.91C>G	X.37:g.7023850G>C	ENSP00000370467:p.Gln31Glu		B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.Q54E	ENST00000381077.5	37	c.160	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	g	2.006	-0.428364	0.04701	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.30182	3.49;1.54;3.57;3.49;3.49	4.01	2.11	0.27256	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.172522	0.51477	N	0.000081	T	0.19005	0.0456	N	0.21508	0.67	0.44462	D	0.997396	B;B;B;B;B	0.26120	0.142;0.003;0.002;0.002;0.001	B;B;B;B;B	0.26094	0.066;0.003;0.009;0.007;0.007	T	0.05566	-1.0877	10	0.13470	T	0.59	-17.2522	12.7462	0.57283	0.0:0.5099:0.4901:0.0	.	31;31;54;31;31	Q08623-3;Q08623-2;E9PAV8;E7EVH9;Q08623	.;.;.;.;HDHD1_HUMAN	E	31;47;31;54;31;31	ENSP00000370467:Q31E;ENSP00000406260:Q31E;ENSP00000396452:Q54E;ENSP00000441208:Q31E;ENSP00000430995:Q31E	ENSP00000370467:Q31E	Q	-	1	0	HDHD1	7033850	1.000000	0.71417	0.005000	0.12908	0.863000	0.49368	2.298000	0.43602	0.068000	0.16574	0.597000	0.82753	CAA	HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom		0.388	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		7023850	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	missense	SNP	0.992	C
HEATR1	55127	genome.wustl.edu	37	1	236724550	236724550	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:236724550C>T	ENST00000366582.3	-	33	4735	c.4621G>A	c.(4621-4623)Gag>Aag	p.E1541K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1460K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1541					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)			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)			TTTAAAATCTCAGGACCACCA	0.333																																																	0													110.0	108.0	109.0					1																	236724550		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.4621G>A	1.37:g.236724550C>T	ENSP00000355541:p.Glu1541Lys		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E1541K	ENST00000366582.3	37	c.4621	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734827	0.30774	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.28895	1.59;1.59	5.24	-0.56	0.11789	Armadillo-like helical (1);Armadillo-type fold (1);	0.958713	0.08790	N	0.893352	T	0.22126	0.0533	L	0.31065	0.9	0.46356	D	0.999004	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.08576	-1.0715	10	0.40728	T	0.16	.	10.1577	0.42833	0.0:0.521:0.2382:0.2408	.	1460;1541	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	K	1541;1460	ENSP00000355541:E1541K;ENSP00000355540:E1460K	ENSP00000355540:E1460K	E	-	1	0	HEATR1	234791173	0.931000	0.31567	0.981000	0.43875	0.963000	0.63663	0.200000	0.17257	0.092000	0.17331	-0.165000	0.13383	GAG	HEATR1	-	superfamily_ARM-type_fold		0.333	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236724550	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.644	T
HELZ2	85441	genome.wustl.edu	37	20	62203254	62203254	+	Intron	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:62203254C>G	ENST00000467148.1	-	1	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCTCTGGCTCTGCCTGTGGT	0.677																																																	0																																										SO:0001627	intron_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.278+206G>C	20.37:g.62203254C>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			HELZ2	-	-		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62203254	-1	no_errors	ENST00000479540	ensembl	human	known	70_37	rna	SNP	1.000	G
HELZ2	85441	genome.wustl.edu	37	20	62203573	62203573	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:62203573C>T	ENST00000467148.1	-	1	235	c.166G>A	c.(166-168)Gag>Aag	p.E56K	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	56					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAGTGGTTCTCGAAGGCCTCC	0.697																																																	0													31.0	25.0	27.0					20																	62203573		2185	4293	6478	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.166G>A	20.37:g.62203573C>T	ENSP00000417401:p.Glu56Lys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.E56K	ENST00000467148.1	37	c.166	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027295	0.75390	.	.	ENSG00000130589	ENST00000467148	T	0.02177	4.41	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);	0.590442	0.17016	N	0.190299	T	0.06735	0.0172	L	0.46157	1.445	0.29196	N	0.875525	P;D	0.69078	0.953;0.997	P;P	0.54664	0.535;0.758	T	0.03576	-1.1023	10	0.66056	D	0.02	-14.8948	16.3882	0.83523	0.0:1.0:0.0:0.0	.	56;56	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	K	56	ENSP00000417401:E56K	ENSP00000417401:E56K	E	-	1	0	RP4-697K14.7	61674017	0.849000	0.29639	0.989000	0.46669	0.887000	0.51463	1.636000	0.37144	1.863000	0.54032	0.655000	0.94253	GAG	HELZ2	-	NULL		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62203573	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.994	T
HERC1	8925	genome.wustl.edu	37	15	64005673	64005673	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:64005673G>A	ENST00000443617.2	-	23	4429	c.4342C>T	c.(4342-4344)Cgg>Tgg	p.R1448W	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1448					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGCACACCGATGGATCACG	0.502																																																	0													105.0	103.0	103.0					15																	64005673		2085	4223	6308	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4342C>T	15.37:g.64005673G>A	ENSP00000390158:p.Arg1448Trp		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R1448W	ENST00000443617.2	37	c.4342	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270491	0.80469	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.30714	1.52	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.42245	0.1194	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.982	T	0.38178	-0.9673	10	0.87932	D	0	.	15.1914	0.73047	0.0:0.0:0.8504:0.1496	.	432;1448	B4DKS2;Q15751	.;HERC1_HUMAN	W	1448;432	ENSP00000390158:R1448W	ENSP00000389613:R432W	R	-	1	2	HERC1	61792726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.161000	0.77505	2.599000	0.87857	0.655000	0.94253	CGG	HERC1	-	NULL		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	G	NM_003922		64005673	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A
HFM1	164045	genome.wustl.edu	37	1	91790314	91790314	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:91790314C>T	ENST00000370425.3	-	21	2443	c.2345G>A	c.(2344-2346)aGa>aAa	p.R782K	HFM1_ENST00000294696.5_Missense_Mutation_p.R14K|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.R461K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	782	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCCATCAATCTTCCTGCTTC	0.343																																																	0													42.0	45.0	44.0					1																	91790314		2199	4300	6499	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2345G>A	1.37:g.91790314C>T	ENSP00000359454:p.Arg782Lys		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R782K	ENST00000370425.3	37	c.2345	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.06|14.06	2.421923|2.421923	0.43020|0.43020	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.62498	.|0.02;0.02;0.02	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Sec63 domain (2);	.|0.109437	.|0.64402	.|D	.|0.000008	T|T	0.36608|0.36608	0.0973|0.0973	L|L	0.31664|0.31664	0.95|0.95	0.31707|0.31707	N|N	0.640027|0.640027	.|B;P;P	.|0.41498	.|0.195;0.752;0.51	.|B;B;B	.|0.42462	.|0.096;0.388;0.336	T|T	0.28038|0.28038	-1.0056|-1.0056	5|10	.|0.23302	.|T	.|0.38	.|.	12.5745|12.5745	0.56355|0.56355	0.0:0.9238:0.0:0.0762|0.0:0.9238:0.0:0.0762	.|.	.|461;37;782	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	N|K	38|782;14;461;466	.|ENSP00000359454:R782K;ENSP00000294696:R14K;ENSP00000359453:R461K	.|ENSP00000294696:R14K	D|R	-|-	1|2	0|0	HFM1|HFM1	91562902|91562902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.455000|2.455000	0.44988|0.44988	2.555000|2.555000	0.86185|0.86185	0.557000|0.557000	0.71058|0.71058	GAT|AGA	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91790314	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	T
HIAT1	64645	genome.wustl.edu	37	1	100534090	100534090	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:100534090C>A	ENST00000370152.3	+	7	903	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	256					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GTGTTTCTCTCCTACCTACCG	0.398																																																	0													157.0	152.0	154.0					1																	100534090		2203	4300	6503	SO:0001583	missense	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.767C>A	1.37:g.100534090C>A	ENSP00000359171:p.Ser256Tyr		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.S256Y	ENST00000370152.3	37	c.767	CCDS763.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242131	0.58995	.	.	ENSG00000156875	ENST00000370152	T	0.55930	0.49	5.93	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.78223	2.4	0.80722	D	1	D	0.60575	0.988	D	0.65323	0.934	T	0.64032	-0.6502	10	0.07990	T	0.79	-35.0031	17.1333	0.86732	0.0:0.8734:0.1266:0.0	.	256	Q96MC6	HIAT1_HUMAN	Y	256	ENSP00000359171:S256Y	ENSP00000359171:S256Y	S	+	2	0	HIAT1	100306678	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	7.818000	0.86416	1.500000	0.48636	-0.175000	0.13238	TCC	HIAT1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIAT1	HGNC	protein_coding	OTTHUMT00000029657.1	C	NM_033055		100534090	+1	no_errors	ENST00000370152	ensembl	human	known	70_37	missense	SNP	1.000	A
HIF1A	3091	genome.wustl.edu	37	14	62188340	62188340	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:62188340G>C	ENST00000337138.4	+	3	605	c.340G>C	c.(340-342)Gat>Cat	p.D114H	HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000539097.1_Missense_Mutation_p.D138H|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.D114H|HIF1A_ENST00000394997.1_Missense_Mutation_p.D115H|HIF1A_ENST00000557538.1_Missense_Mutation_p.D55H	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	114	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTACATTTCTGATAATGTGAA	0.318																																																	0													147.0	145.0	146.0					14																	62188340		2203	4298	6501	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.340G>C	14.37:g.62188340G>C	ENSP00000338018:p.Asp114His		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.D138H	ENST00000337138.4	37	c.412	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.186155	0.94885	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.93	5.93	0.95920	PAS (3);PAS fold (1);	0.044537	0.85682	D	0.000000	T	0.35941	0.0949	L	0.39326	1.205	0.80722	D	1	P;P;P	0.50272	0.933;0.933;0.933	D;D;D	0.64877	0.93;0.93;0.93	T	0.01033	-1.1474	10	0.66056	D	0.02	.	20.3396	0.98756	0.0:0.0:1.0:0.0	.	115;114;114	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	H	55;114;115;114;55;138	ENSP00000338018:D114H;ENSP00000378446:D115H;ENSP00000323326:D114H;ENSP00000451696:D55H;ENSP00000437955:D138H	ENSP00000323326:D114H	D	+	1	0	HIF1A	61258093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.939000	0.87685	2.812000	0.96745	0.555000	0.69702	GAT	HIF1A	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.318	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	G	NM_001530		62188340	+1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	C
HLA-A	3105	genome.wustl.edu	37	6	29911899	29911900	+	Splice_Site	INS	-	-	C	rs199474608|rs199474609|rs386698554|rs377011235|rs41544717		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:29911899_29911900insC	ENST00000396634.1	+	6	961_962	c.620_621insC	c.(619-624)gacccc>gaCcccc	p.DP207fs	HLA-A_ENST00000376802.2_Splice_Site_p.DP207fs|HLA-A_ENST00000376806.5_Splice_Site_p.DP207fs|HLA-A_ENST00000376809.5_Splice_Site_p.DP207fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	207	Alpha-3.				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						TTCCCGTCAGACCCCCCCAAGA	0.574									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																																										SO:0001630	splice_region_variant	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.620-1->C	6.37:g.29911906_29911906dupC			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	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.K210fs	ENST00000396634.1	37	c.620_621	CCDS34373.1	6																																																																																			HLA-A	-	pfscan_Ig-like		0.574	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	-	NM_002116	Frame_Shift_Ins	29911900	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	frame_shift_ins	INS	0.903:0.000	C
HPD	3242	genome.wustl.edu	37	12	122277702	122277702	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:122277702C>G	ENST00000289004.4	-	14	1149	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	HPD_ENST00000543163.1_Missense_Mutation_p.E333Q	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	372					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGCTCCTCCTCGAAAGCCTTG	0.597																																																	0													83.0	81.0	82.0					12																	122277702		2203	4300	6503	SO:0001583	missense	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.1114G>C	12.37:g.122277702C>G	ENSP00000289004:p.Glu372Gln		A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	p.E372Q	ENST00000289004.4	37	c.1114	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448206	0.84101	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.79845	-1.03;-1.31	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91067	0.4890	10	0.87932	D	0	-34.731	19.3143	0.94206	0.0:1.0:0.0:0.0	.	372	P32754	HPPD_HUMAN	Q	372;369;333	ENSP00000289004:E372Q;ENSP00000441677:E333Q	ENSP00000289004:E372Q	E	-	1	0	HPD	120762085	1.000000	0.71417	0.981000	0.43875	0.490000	0.33462	5.439000	0.66556	2.570000	0.86706	0.462000	0.41574	GAG	HPD	-	pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	C	NM_002150		122277702	-1	no_errors	ENST00000289004	ensembl	human	known	70_37	missense	SNP	1.000	G
IGSF9B	22997	genome.wustl.edu	37	11	133807325	133807325	+	Nonsense_Mutation	SNP	G	G	A	rs566589696		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:133807325G>A	ENST00000321016.8	-	5	855	c.625C>T	c.(625-627)Cga>Tga	p.R209*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.R209*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	209	Ig-like 2.				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)		CTGTACGCTCGGCAGGTGTAG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17929	0.0		0.001	False		,,,				2504	0.0																0													81.0	92.0	88.0					11																	133807325		2122	4216	6338	SO:0001587	stop_gained	22997			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		ENST00000321016.8:c.625C>T	11.37:g.133807325G>A	ENSP00000317980:p.Arg209*		G5EA26	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R209*	ENST00000321016.8	37	c.625		11	.	.	.	.	.	.	.	.	.	.	G	38	7.252448	0.98164	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.4704	0.94961	0.0:0.0:1.0:0.0	.	.	.	.	X	209;51;209;199	.	ENSP00000317980:R209X	R	-	1	2	IGSF9B	133312535	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.261000	0.78400	2.597000	0.87782	0.561000	0.74099	CGA	IGSF9B	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.622	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		G	XM_290502		133807325	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	nonsense	SNP	1.000	A
INPP4B	8821	genome.wustl.edu	37	4	142950044	142950044	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:142950044A>G	ENST00000513000.1	-	27	3099	c.2666T>C	c.(2665-2667)gTa>gCa	p.V889A	INPP4B_ENST00000308502.4_Missense_Mutation_p.V889A|INPP4B_ENST00000508116.1_Missense_Mutation_p.V889A|INPP4B_ENST00000262992.4_Missense_Mutation_p.V889A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	889					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATTCTTCAGTACATTCTCTAT	0.388																																																	0													124.0	112.0	116.0					4																	142950044		2203	4300	6503	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2666T>C	4.37:g.142950044A>G	ENSP00000425487:p.Val889Ala		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.V889A	ENST00000513000.1	37	c.2666	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685753	0.68157	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.82	5.82	0.92795	.	0.482216	0.20659	N	0.088058	T	0.32793	0.0841	L	0.31371	0.925	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.04053	-1.0981	10	0.13108	T	0.6	.	16.1758	0.81851	1.0:0.0:0.0:0.0	.	889	O15327	INP4B_HUMAN	A	889	ENSP00000425487:V889A;ENSP00000262992:V889A;ENSP00000308441:V889A;ENSP00000423954:V889A	ENSP00000262992:V889A	V	-	2	0	INPP4B	143169494	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.319000	0.72871	2.225000	0.72522	0.477000	0.44152	GTA	INPP4B	-	NULL		0.388	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	A	NM_003866		142950044	-1	no_errors	ENST00000262992	ensembl	human	known	70_37	missense	SNP	0.999	G
IRS1	3667	genome.wustl.edu	37	2	227662668	227662668	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:227662668C>T	ENST00000305123.5	-	1	1807	c.787G>A	c.(787-789)Gag>Aag	p.E263K	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	263	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCGGAACTCATCACTCATG	0.642											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73.0	80.0	78.0					2																	227662668		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.787G>A	2.37:g.227662668C>T	ENSP00000304895:p.Glu263Lys	2321		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.E263K	ENST00000305123.5	37	c.787	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.083673	0.94050	.	.	ENSG00000169047	ENST00000305123	T	0.68479	-0.33	5.79	5.79	0.91817	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.000000	0.64402	D	0.000001	T	0.76814	0.4040	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.77073	-0.2723	10	0.59425	D	0.04	-11.6738	20.0212	0.97504	0.0:1.0:0.0:0.0	.	263	P35568	IRS1_HUMAN	K	263	ENSP00000304895:E263K	ENSP00000304895:E263K	E	-	1	0	IRS1	227370912	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GAG	IRS1	-	pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1		0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	C	NM_005544		227662668	-1	no_errors	ENST00000305123	ensembl	human	known	70_37	missense	SNP	1.000	T
IRS1	3667	genome.wustl.edu	37	2	227662864	227662864	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:227662864C>T	ENST00000305123.5	-	1	1611	c.591G>A	c.(589-591)ctG>ctA	p.L197L	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	197	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTCCGAGTTCAGCTTCACGA	0.572											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58.0	57.0	57.0					2																	227662864		2203	4300	6503	SO:0001819	synonymous_variant	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.591G>A	2.37:g.227662864C>T		2321		Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.L197	ENST00000305123.5	37	c.591	CCDS2463.1	2																																																																																			IRS1	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1		0.572	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	C	NM_005544		227662864	-1	no_errors	ENST00000305123	ensembl	human	known	70_37	silent	SNP	0.992	T
KCTD4	386618	genome.wustl.edu	37	13	45768493	45768493	+	Silent	SNP	C	C	T	rs371658910		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr13:45768493C>T	ENST00000379108.1	-	1	359	c.210G>A	c.(208-210)ccG>ccA	p.P70P	KCTD4_ENST00000405872.1_Silent_p.P70P|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	70	BTB.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		CAGCATCAAACGGGCAGAGGA	0.413																																																	0								C	,	0,4406		0,0,2203	190.0	193.0	192.0		,210	-4.7	0.9	13		192	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	GTF2F2,KCTD4	NM_004128.2,NM_198404.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,70/260	45768493	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	386618			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.210G>A	13.37:g.45768493C>T			Q5W0P9	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.P70	ENST00000379108.1	37	c.210	CCDS9396.1	13																																																																																			KCTD4	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.413	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD4	HGNC	protein_coding	OTTHUMT00000044757.1	C			45768493	-1	no_errors	ENST00000379108	ensembl	human	known	70_37	silent	SNP	0.831	T
KDM1B	221656	genome.wustl.edu	37	6	18212785	18212785	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:18212785G>A	ENST00000297792.5	+	14	1414	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	KDM1B_ENST00000388870.2_Missense_Mutation_p.E646K|KDM1B_ENST00000397244.1_Missense_Mutation_p.E414K|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	645					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACCGTTGTCAGAGAAGAAGAT	0.398																																																	0													202.0	181.0	188.0					6																	18212785		2203	4300	6503	SO:0001583	missense	221656			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1237G>A	6.37:g.18212785G>A	ENSP00000297792:p.Glu413Lys		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.E646K	ENST00000297792.5	37	c.1936	CCDS34343.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029438	0.75504	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	D;D;D	0.92446	-3.04;-3.04;-3.04	5.79	5.79	0.91817	Amine oxidase (1);	0.100098	0.64402	D	0.000003	D	0.93517	0.7931	L	0.41236	1.265	0.80722	D	1	B;D	0.76494	0.013;0.999	B;D	0.81914	0.012;0.995	D	0.92473	0.5987	10	0.42905	T	0.14	-1.0639	20.0349	0.97554	0.0:0.0:1.0:0.0	.	645;413	Q8NB78;A2A2C6	KDM1B_HUMAN;.	K	646;414;413;645	ENSP00000373522:E646K;ENSP00000380419:E414K;ENSP00000297792:E413K	ENSP00000297792:E413K	E	+	1	0	KDM1B	18320764	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	9.443000	0.97568	2.744000	0.94065	0.650000	0.86243	GAG	KDM1B	-	pfam_Amino_oxidase		0.398	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	G	NM_153042		18212785	+1	no_errors	ENST00000388870	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM2A	22992	genome.wustl.edu	37	11	66975046	66975046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:66975046C>T	ENST00000529006.2	+	6	819	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	KDM2A_ENST00000398645.2_Nonsense_Mutation_p.Q125*	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	125					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GACCATGGCTCAGTGGACACG	0.498																																																	0													67.0	71.0	70.0					11																	66975046		2038	4204	6242	SO:0001587	stop_gained	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.373C>T	11.37:g.66975046C>T	ENSP00000432786:p.Gln125*		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Nonsense_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.Q125*	ENST00000529006.2	37	c.373	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	C	46	12.794596	0.99696	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.7518	18.0888	0.89468	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000381640:Q125X	Q	+	1	0	KDM2A	66731622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.503000	0.84419	0.591000	0.81541	CAG	KDM2A	-	NULL		0.498	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	C	NM_012308		66975046	+1	no_errors	ENST00000529006	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIAA0556	23247	genome.wustl.edu	37	16	27659991	27659991	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:27659991G>C	ENST00000261588.4	+	6	494	c.475G>C	c.(475-477)Gat>Cat	p.D159H	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	159						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGACTATTCTGATGATTTTGA	0.517																																																	0													102.0	81.0	88.0					16																	27659991		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.475G>C	16.37:g.27659991G>C	ENSP00000261588:p.Asp159His		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.D159H	ENST00000261588.4	37	c.475	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860046	0.51482	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.44482	0.92	4.82	4.82	0.62117	.	0.118609	0.53938	D	0.000044	T	0.38665	0.1049	N	0.19112	0.55	0.31891	N	0.617211	P;B	0.41569	0.755;0.035	P;B	0.48141	0.568;0.04	T	0.52155	-0.8613	10	0.87932	D	0	-0.7325	13.7532	0.62921	0.0:0.0:1.0:0.0	.	24;159	Q8N803;O60303	.;K0556_HUMAN	H	159;23	ENSP00000261588:D159H	ENSP00000261588:D159H	D	+	1	0	KIAA0556	27567492	0.994000	0.37717	0.998000	0.56505	0.362000	0.29581	2.535000	0.45685	2.380000	0.81148	0.650000	0.86243	GAT	KIAA0556	-	NULL		0.517	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27659991	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.999	C
KIAA1731	85459	genome.wustl.edu	37	11	93461963	93461963	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:93461963G>C	ENST00000325212.6	+	25	7440	c.7278G>C	c.(7276-7278)gaG>gaC	p.E2426D	KIAA1731_ENST00000411936.1_Missense_Mutation_p.E2426D|SNORA32_ENST00000384072.1_RNA|TAF1D_ENST00000546088.1_5'Flank|KIAA1731_ENST00000531700.1_Missense_Mutation_p.E606D|KIAA1731_ENST00000344196.4_Missense_Mutation_p.E606D|SNORD6_ENST00000365444.1_RNA|SNORA25_ENST00000384384.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2426						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)				AGAAGAGCGAGAATGAAGCAA	0.333																																																	0													110.0	95.0	100.0					11																	93461963		692	1591	2283	SO:0001583	missense	85459			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	ENST00000325212.6:c.7278G>C	11.37:g.93461963G>C	ENSP00000316681:p.Glu2426Asp		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.E2426D	ENST00000325212.6	37	c.7278	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972966	0.34848	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.11385	2.78;2.78	5.55	-6.01	0.02199	.	.	.	.	.	T	0.06005	0.0156	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17268	0.004;0.021;0.021	B;B;B	0.20184	0.009;0.028;0.028	T	0.45527	-0.9255	9	0.10377	T	0.69	.	7.9526	0.30023	0.4679:0.3614:0.1707:0.0	.	2426;2426;606	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	D	2426;2426;606;606;438	ENSP00000316681:E2426D;ENSP00000406505:E2426D	ENSP00000316681:E2426D	E	+	3	2	KIAA1731	93101611	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	-0.680000	0.05197	-1.738000	0.01348	0.655000	0.94253	GAG	KIAA1731	-	NULL		0.333	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93461963	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	missense	SNP	0.000	C
KIAA1919	91749	genome.wustl.edu	37	6	111588064	111588064	+	Silent	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:111588064G>T	ENST00000368847.4	+	4	1652	c.1299G>T	c.(1297-1299)ggG>ggT	p.G433G		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	433					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTAGCTCCGGGCTAAATGAAT	0.398																																																	0													66.0	71.0	69.0					6																	111588064		2203	4300	6503	SO:0001819	synonymous_variant	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1299G>T	6.37:g.111588064G>T			A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G433	ENST00000368847.4	37	c.1299	CCDS5090.1	6																																																																																			KIAA1919	-	NULL		0.398	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	G	NM_153369		111588064	+1	no_errors	ENST00000368847	ensembl	human	known	70_37	silent	SNP	0.000	T
KLHL29	114818	genome.wustl.edu	37	2	23919346	23919346	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:23919346G>A	ENST00000486442.1	+	11	2785	c.2068G>A	c.(2068-2070)Gga>Aga	p.G690R		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	690										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						CACCCTCGGGGGACTTGGCGT	0.562																																																	0													68.0	64.0	65.0					2																	23919346		692	1591	2283	SO:0001583	missense	114818				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.2068G>A	2.37:g.23919346G>A	ENSP00000420659:p.Gly690Arg		Q8N388|Q96BF0|Q96PW7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.G690R	ENST00000486442.1	37	c.2068	CCDS54335.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821448	0.90873	.	.	ENSG00000119771	ENST00000486442	D	0.99494	-6.01	4.56	4.56	0.56223	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97411	1.0002	10	0.87932	D	0	.	17.6961	0.88282	0.0:0.0:1.0:0.0	.	470;470	Q96CT2;Q96CT2-2	KLH29_HUMAN;.	R	690	ENSP00000420659:G690R	ENSP00000420659:G690R	G	+	1	0	KLHL29	23772851	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.795000	0.99099	2.230000	0.72887	0.563000	0.77884	GGA	KLHL29	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1		0.562	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	G	NM_052920		23919346	+1	no_errors	ENST00000486442	ensembl	human	known	70_37	missense	SNP	1.000	A
LOC653786	653786	genome.wustl.edu	37	16	22558146	22558146	+	RNA	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:22558146C>T	ENST00000550753.1	+	0	1128					NR_003676.2																						ccaatTTTCTCGGTCAAGGAA	0.473																																																	0																																												101060424																															16.37:g.22558146C>T				RNA	SNP	-	NULL	ENST00000550753.1	37	NULL		16																																																																																			RP11-368J21.3	-	-		0.473	RP11-368J21.3-001	KNOWN	basic	processed_transcript	LOC101060424	Clone_based_vega_gene	pseudogene	OTTHUMT00000409041.1	C			22558146	+1	no_errors	ENST00000550753	ensembl	human	known	70_37	rna	SNP	0.002	T
LDHD	197257	genome.wustl.edu	37	16	75148489	75148489	+	Silent	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:75148489G>C	ENST00000450168.2	-	5	614	c.564C>G	c.(562-564)ctC>ctG	p.L188L	LDHD_ENST00000300051.4_Silent_p.L188L	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCTCCAGGTTGAGCACGTTGT	0.746																																																	0													14.0	17.0	16.0					16																	75148489		2015	3908	5923	SO:0001819	synonymous_variant	197257			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.564C>G	16.37:g.75148489G>C				Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.L188	ENST00000450168.2	37	c.564	CCDS45529.1	16																																																																																			LDHD	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2		0.746	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000434651.1	G	NM_153486		75148489	-1	no_errors	ENST00000300051	ensembl	human	known	70_37	silent	SNP	0.128	C
METTL16	79066	genome.wustl.edu	37	17	2310431	2310431	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:2310431G>A	ENST00000609667.1	-	3	420	c.341C>T	c.(340-342)aCt>aTt	p.T114I																								TGCAGCTAGAGTGGCAGCTGC	0.537																																																	0													37.0	44.0	42.0					17																	2310431		1941	4128	6069	SO:0001583	missense	284009																														ENST00000609667.1:c.341C>T	17.37:g.2310431G>A	ENSP00000476359:p.Thr114Ile			RNA	SNP	-	NULL	ENST00000609667.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884822	0.17540	.	.	ENSG00000205821	ENST00000381977	.	.	.	4.45	0.17	0.15021	.	.	.	.	.	T	0.27697	0.0681	.	.	.	.	.	.	B	0.29432	0.244	B	0.27715	0.082	T	0.32052	-0.9921	6	0.87932	D	0	.	2.968	0.05913	0.3154:0.0:0.4888:0.1957	.	114	Q4G0H6	.	I	114	.	ENSP00000371404:T114I	T	-	2	0	AC006435.1	2257181	0.003000	0.15002	0.000000	0.03702	0.017000	0.09413	0.717000	0.25851	0.216000	0.20781	0.655000	0.94253	ACT	RP1-59D14.3	-	-		0.537	AC006435.1-201	KNOWN	basic|appris_principal	protein_coding	LOC284009	Clone_based_vega_gene	protein_coding		G			2310431	-1	no_errors	ENST00000381977	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC00969	440993	genome.wustl.edu	37	3	195415466	195415466	+	lincRNA	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:195415466C>T	ENST00000445430.1	+	0	8416									long intergenic non-protein coding RNA 969																		ATGGGGGCctcagcactagga	0.443																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195415466C>T				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			AC069513.3	-	-		0.443	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	C			195415466	+1	no_errors	ENST00000420851	ensembl	human	known	70_37	rna	SNP	0.003	T
HNRNPA1P48	642659	genome.wustl.edu	37	16	51679714	51679714	+	RNA	SNP	C	C	T	rs545758107		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:51679714C>T	ENST00000562726.1	+	0	48					NR_002944.2|NR_003277.1				heterogeneous nuclear ribonucleoprotein A1 pseudogene 48																		TAAAGTCTCTCTTCACCCTGC	0.458													-|||	1	0.000199681	0.0	0.0	5008	,	,		19469	0.001		0.0	False		,,,				2504	0.0																0																																												728643					16q12.1	2013-06-13			ENSG00000224578	ENSG00000224578			48778	pseudogene	pseudogene							Standard	NG_005530		Approved				OTTHUMG00000173250		16.37:g.51679714C>T				RNA	SNP	-	NULL	ENST00000562726.1	37	NULL		16																																																																																			CTD-2119F7.2	-	-		0.458	HNRNPA1P48-002	KNOWN	basic	processed_transcript	LOC728643	Clone_based_vega_gene	pseudogene	OTTHUMT00000422613.1	C			51679714	+1	no_errors	ENST00000562726	ensembl	human	known	70_37	rna	SNP	0.005	T
AC011718.2	0	genome.wustl.edu	37	22	20640910	20640910	+	lincRNA	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr22:20640910C>T	ENST00000577456.1	-	0	650																											GTTGGCGATGCCCTTGTCGGC	0.647																																																	0																																												729461																															22.37:g.20640910C>T				RNA	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-		0.647	AC011718.2-004	KNOWN	basic	lincRNA	LOC729461	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1	C			20640910	-1	no_errors	ENST00000428139	ensembl	human	known	70_37	rna	SNP	0.024	T
LONRF2	164832	genome.wustl.edu	37	2	100906845	100906845	+	Missense_Mutation	SNP	C	C	T	rs143848902		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:100906845C>T	ENST00000393437.3	-	10	2434	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M	LONRF2_ENST00000409647.1_Missense_Mutation_p.V356M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	599	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AACGTTCTCACGTCCTTAATC	0.473																																																	0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	137.0	123.0	128.0		1795	-1.7	0.0	2	dbSNP_134	128	0,8600		0,0,4300	no	missense	LONRF2	NM_198461.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	599/755	100906845	1,13005	2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1795G>A	2.37:g.100906845C>T	ENSP00000377086:p.Val599Met		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.V599M	ENST00000393437.3	37	c.1795	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982633	0.34942	2.27E-4	0.0	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.48522	0.81;0.81	4.89	-1.69	0.08186	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.377538	0.26210	N	0.025698	T	0.58308	0.2113	M	0.77712	2.385	0.26961	N	0.96581	D	0.89917	1.0	D	0.85130	0.997	T	0.53092	-0.8487	10	0.59425	D	0.04	-0.9745	2.2956	0.04149	0.1258:0.4473:0.2248:0.202	.	599	Q1L5Z9	LONF2_HUMAN	M	599;356	ENSP00000377086:V599M;ENSP00000386823:V356M	ENSP00000377086:V599M	V	-	1	0	LONRF2	100273277	0.553000	0.26513	0.000000	0.03702	0.024000	0.10985	1.393000	0.34497	-0.810000	0.04375	-0.136000	0.14681	GTG	LONRF2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.473	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	C	NM_198461		100906845	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	0.178	T
LRFN1	57622	genome.wustl.edu	37	19	39804698	39804698	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:39804698G>A	ENST00000248668.4	-	1	1278	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	427	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCCACGAGCCGACGCTCAGCC	0.687																																																	0													16.0	23.0	20.0					19																	39804698		2034	4147	6181	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1279C>T	19.37:g.39804698G>A	ENSP00000248668:p.Arg427Trp		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R427W	ENST00000248668.4	37	c.1279	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259330	0.59321	.	.	ENSG00000128011	ENST00000248668	T	0.58060	0.36	4.53	0.848	0.18966	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000917	T	0.64227	0.2579	L	0.59436	1.845	0.54753	D	0.999986	D	0.89917	1.0	D	0.74348	0.983	T	0.65651	-0.6116	10	0.72032	D	0.01	.	11.356	0.49615	0.0:0.0:0.2687:0.7313	.	427	Q9P244	LRFN1_HUMAN	W	427	ENSP00000248668:R427W	ENSP00000248668:R427W	R	-	1	2	LRFN1	44496538	0.065000	0.20965	0.997000	0.53966	0.910000	0.53928	0.207000	0.17395	0.429000	0.26202	0.655000	0.94253	CGG	LRFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.687	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	G	NM_020862		39804698	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC3C	100505591	genome.wustl.edu	37	17	38100984	38100984	+	Silent	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:38100984C>G	ENST00000377924.4	+	2	875	c.825C>G	c.(823-825)gtC>gtG	p.V275V		NM_001195545.1	NP_001182474.1	A6NJW4	LRR3C_HUMAN	leucine rich repeat containing 3C	275						integral component of membrane (GO:0016021)				breast(1)	1						GCACAGTGGTCTGATGACCCA	0.627																																																	0																																										SO:0001819	synonymous_variant	100505591				CCDS54121.1	17q12-21.1	2011-05-05			ENSG00000204913	ENSG00000204913			40034	protein-coding gene	gene with protein product							Standard	NM_001195545		Approved		uc021twv.1	A6NJW4		ENST00000377924.4:c.825C>G	17.37:g.38100984C>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V275	ENST00000377924.4	37	c.825	CCDS54121.1	17																																																																																			LRRC3C	-	NULL		0.627	LRRC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC3C	HGNC	protein_coding	OTTHUMT00000446846.1	C			38100984	+1	no_errors	ENST00000377924	ensembl	human	known	70_37	silent	SNP	0.999	G
RAD54L	8438	genome.wustl.edu	37	1	46726877	46726877	+	Intron	DEL	T	T	-			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:46726877delT	ENST00000371975.4	+	8	1440				RAD54L_ENST00000442598.1_Intron|RAD54L_ENST00000473251.1_Intron	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)						chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GTTTTTTTTGTTTTTTTTTTT	0.363								Direct reversal of damage;Homologous recombination																																									0																																										SO:0001627	intron_variant	10489			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.767-56T>-	1.37:g.46726877delT			Q5TE31|Q6IUY3	RNA	DEL	-	NULL	ENST00000371975.4	37	NULL	CCDS532.1	1																																																																																			LRRC41	-	-		0.363	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021272.1	T	NM_003579		46726877	-1	no_errors	ENST00000496156	ensembl	human	known	70_37	rna	DEL	0.001	-
LRRC8E	80131	genome.wustl.edu	37	19	7963642	7963642	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:7963642G>A	ENST00000306708.6	+	3	336	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	79					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GGGGATCCCTGAGCAGATTGG	0.522																																																	0													92.0	95.0	94.0					19																	7963642		2203	4300	6503	SO:0001583	missense	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.235G>A	19.37:g.7963642G>A	ENSP00000306524:p.Glu79Lys		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E79K	ENST00000306708.6	37	c.235	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.240741	0.01493	.	.	ENSG00000171017	ENST00000306708	T	0.26373	1.74	5.19	5.19	0.71726	.	0.601605	0.17117	N	0.186383	T	0.13157	0.0319	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18209	-1.0344	10	0.07813	T	0.8	.	11.8556	0.52435	0.0:0.1757:0.8243:0.0	.	79	Q6NSJ5	LRC8E_HUMAN	K	79	ENSP00000306524:E79K	ENSP00000306524:E79K	E	+	1	0	LRRC8E	7869642	0.927000	0.31430	0.945000	0.38365	0.146000	0.21551	2.430000	0.44766	2.709000	0.92574	0.655000	0.94253	GAG	LRRC8E	-	NULL		0.522	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	G	NM_025061		7963642	+1	no_errors	ENST00000306708	ensembl	human	known	70_37	missense	SNP	0.015	A
MACC1	346389	genome.wustl.edu	37	7	20193845	20193845	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:20193845G>C	ENST00000400331.5	-	6	2625	c.2317C>G	c.(2317-2319)Cga>Gga	p.R773G	MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000589011.1_Missense_Mutation_p.R773G|MACC1_ENST00000332878.4_Missense_Mutation_p.R773G	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	773					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTGTTTCCTCGATGAGGAATT	0.408																																																	0													198.0	170.0	179.0					7																	20193845		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2317C>G	7.37:g.20193845G>C	ENSP00000383185:p.Arg773Gly		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.R773G	ENST00000400331.5	37	c.2317	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.33216	1.42;1.42	5.45	3.62	0.41486	.	0.680599	0.15549	N	0.256532	T	0.31167	0.0788	M	0.68593	2.085	0.29667	N	0.842787	P	0.40515	0.719	B	0.37780	0.258	T	0.29579	-1.0007	10	0.87932	D	0	-0.3925	8.4103	0.32640	0.0702:0.0:0.6511:0.2787	.	773	Q6ZN28	MACC1_HUMAN	G	773	ENSP00000383185:R773G;ENSP00000328410:R773G	ENSP00000328410:R773G	R	-	1	2	MACC1	20160370	0.999000	0.42202	0.583000	0.28640	0.757000	0.42996	2.754000	0.47532	0.636000	0.30508	0.655000	0.94253	CGA	MACC1	-	NULL		0.408	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	G	NM_182762		20193845	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	missense	SNP	0.648	C
MCM10	55388	genome.wustl.edu	37	10	13217641	13217641	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:13217641C>G	ENST00000484800.2	+	6	830	c.727C>G	c.(727-729)Caa>Gaa	p.Q243E	MCM10_ENST00000378714.3_Missense_Mutation_p.Q242E|MCM10_ENST00000378694.1_Missense_Mutation_p.Q242E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	243	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAAACGACTCAACCCATCTG	0.527																																																	0													137.0	135.0	136.0					10																	13217641		2203	4300	6503	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.727C>G	10.37:g.13217641C>G	ENSP00000418268:p.Gln243Glu		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.Q243E	ENST00000484800.2	37	c.727	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	9.116	1.007838	0.19199	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.13901	2.56;2.56;2.55	5.24	4.31	0.51392	.	1.020430	0.07770	N	0.951509	T	0.20414	0.0491	M	0.79805	2.47	0.09310	N	1	B;B;B	0.31625	0.116;0.332;0.224	B;B;B	0.36289	0.036;0.221;0.11	T	0.50101	-0.8867	10	0.05620	T	0.96	-15.5131	10.1906	0.43024	0.1534:0.6988:0.1478:0.0	.	242;242;243	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	E	242;243;243;242	ENSP00000367986:Q242E;ENSP00000418268:Q243E;ENSP00000367966:Q242E	ENSP00000354945:Q243E	Q	+	1	0	MCM10	13257647	0.009000	0.17119	0.004000	0.12327	0.020000	0.10135	1.150000	0.31639	1.288000	0.44600	0.655000	0.94253	CAA	MCM10	-	NULL		0.527	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	C	NM_182751		13217641	+1	no_errors	ENST00000361282	ensembl	human	known	70_37	missense	SNP	0.005	G
MCM3AP	8888	genome.wustl.edu	37	21	47700456	47700456	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr21:47700456T>G	ENST00000397708.1	-	4	1731	c.1477A>C	c.(1477-1479)Agt>Cgt	p.S493R	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S493R			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	493	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTATGCAAACTTTTCCCCTTC	0.348																																																	0													73.0	79.0	77.0					21																	47700456		2203	4300	6503	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1477A>C	21.37:g.47700456T>G	ENSP00000380820:p.Ser493Arg		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.S493R	ENST00000397708.1	37	c.1477	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	T	8.275	0.814139	0.16537	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03330	3.97;3.97	5.32	-0.756	0.11057	.	0.990290	0.08253	N	0.974326	T	0.02533	0.0077	N	0.14661	0.345	0.20307	N	0.999916	B	0.22683	0.073	B	0.23716	0.048	T	0.50074	-0.8870	10	0.16420	T	0.52	-0.8414	9.4842	0.38919	0.0:0.5912:0.0:0.4088	.	493	O60318	MCM3A_HUMAN	R	493	ENSP00000380820:S493R;ENSP00000291688:S493R	ENSP00000291688:S493R	S	-	1	0	MCM3AP	46524884	0.000000	0.05858	0.809000	0.32408	0.967000	0.64934	-0.265000	0.08644	-0.184000	0.10567	-0.462000	0.05337	AGT	MCM3AP	-	NULL		0.348	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	T	NM_003906		47700456	-1	no_errors	ENST00000291688	ensembl	human	known	70_37	missense	SNP	0.038	G
ME2	4200	genome.wustl.edu	37	18	48450510	48450510	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr18:48450510C>T	ENST00000321341.5	+	11	1371	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	ME2_ENST00000382927.3_Missense_Mutation_p.H367Y	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	367					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ACCATTTACTCACTCAGCCCC	0.308																																																	0													114.0	114.0	114.0					18																	48450510		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1099C>T	18.37:g.48450510C>T	ENSP00000321070:p.His367Tyr		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.H367Y	ENST00000321341.5	37	c.1099	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061163	0.55432	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.30182	1.54;1.54	5.56	5.56	0.83823	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.90922	3.16	0.58432	D	0.999996	D;D	0.71674	0.998;0.998	D;D	0.72982	0.962;0.979	T	0.72144	-0.4379	10	0.87932	D	0	-16.7519	16.8161	0.85734	0.0:1.0:0.0:0.0	.	367;367	Q9BWL6;P23368	.;MAOM_HUMAN	Y	367	ENSP00000321070:H367Y;ENSP00000372384:H367Y	ENSP00000321070:H367Y	H	+	1	0	ME2	46704508	0.997000	0.39634	0.870000	0.34147	0.167000	0.22549	3.960000	0.56752	2.781000	0.95711	0.650000	0.86243	CAC	ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd		0.308	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	C	NM_002396		48450510	+1	no_errors	ENST00000321341	ensembl	human	known	70_37	missense	SNP	1.000	T
MED23	9439	genome.wustl.edu	37	6	131912530	131912530	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:131912530C>T	ENST00000368068.3	-	26	3788	c.3609G>A	c.(3607-3609)atG>atA	p.M1203I	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.M1209I|MED23_ENST00000368060.3_Missense_Mutation_p.M1203I|MED23_ENST00000403834.3_Missense_Mutation_p.M1209I|MED23_ENST00000545957.1_Missense_Mutation_p.M844I|MED23_ENST00000354577.4_Missense_Mutation_p.M1209I	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1203					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGCTACAACTCATCTCAGAGT	0.448																																																	0													115.0	101.0	106.0					6																	131912530		2203	4300	6503	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3609G>A	6.37:g.131912530C>T	ENSP00000357047:p.Met1203Ile		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.M1209I	ENST00000368068.3	37	c.3627	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227180	0.79576	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.22421	0.69	0.80722	D	1	B;B	0.33044	0.395;0.343	B;B	0.39419	0.299;0.198	T	0.65207	-0.6224	10	0.38643	T	0.18	-23.8426	19.9813	0.97326	0.0:1.0:0.0:0.0	.	1203;1209	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	I	1209;1203;1209;1203;1209;844	ENSP00000346588:M1209I;ENSP00000357047:M1203I;ENSP00000384536:M1209I;ENSP00000357039:M1203I;ENSP00000357037:M1209I;ENSP00000439977:M844I	ENSP00000346588:M1209I	M	-	3	0	MED23	131954223	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.764000	0.85297	2.726000	0.93360	0.655000	0.94253	ATG	MED23	-	pfam_Mediator_Med23		0.448	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	C			131912530	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	missense	SNP	1.000	T
MED24	9862	genome.wustl.edu	37	17	38192033	38192033	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:38192033G>A	ENST00000394128.2	-	5	349	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	MED24_ENST00000394127.2_Missense_Mutation_p.R77W|MED24_ENST00000501516.3_Missense_Mutation_p.R90W|MED24_ENST00000356271.3_Missense_Mutation_p.R77W|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394126.1_Missense_Mutation_p.R115W	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	90					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|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 cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACAGGTCCCGAGAAAAGTCA	0.537																																																	0													97.0	78.0	84.0					17																	38192033		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.268C>T	17.37:g.38192033G>A	ENSP00000377686:p.Arg90Trp		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.R90W	ENST00000394128.2	37	c.268	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160561	0.38119	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000543759;ENST00000537674;ENST00000535508;ENST00000428757	T;T;T	0.72835	0.66;0.66;-0.69	5.55	4.59	0.56863	Mediator complex, subunit Med24, N-terminal (1);	0.118962	0.56097	D	0.000027	T	0.77691	0.4168	L	0.51422	1.61	0.80722	D	1	D;B;D;B;B;B	0.89917	1.0;0.26;1.0;0.14;0.054;0.066	D;B;D;B;B;B	0.73708	0.97;0.057;0.981;0.029;0.017;0.028	T	0.78886	-0.2027	10	0.72032	D	0.01	-19.931	9.4298	0.38604	0.0713:0.0:0.7861:0.1425	.	45;77;40;40;77;90	B9TX63;B9TX65;B4DV99;F5H5K2;O75448-2;O75448	.;.;.;.;.;MED24_HUMAN	W	90;90;90;40;77;64;64;64;90	ENSP00000377686:R90W;ENSP00000443344:R40W;ENSP00000377685:R77W	ENSP00000348610:R90W	R	-	1	2	MED24	35445559	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.963000	0.70372	1.595000	0.50050	-0.136000	0.14681	CGG	MED24	-	pfam_Mediator_Med24_N		0.537	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	G	NM_014815		38192033	-1	no_errors	ENST00000394128	ensembl	human	known	70_37	missense	SNP	1.000	A
KMT2E	55904	genome.wustl.edu	37	7	104753289	104753289	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:104753289C>G	ENST00000311117.3	+	27	5631	c.5086C>G	c.(5086-5088)Cca>Gca	p.P1696A	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.P1654A|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1696A	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1696	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACCACCCCATCCATCCACAGG	0.587																																																	0													94.0	90.0	91.0					7																	104753289		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5086C>G	7.37:g.104753289C>G	ENSP00000312379:p.Pro1696Ala		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.P1696A	ENST00000311117.3	37	c.5086	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	c	0.788	-0.759820	0.03019	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91237	-2.81;-2.57;-2.81	3.39	1.31	0.21738	.	0.000000	0.38959	U	0.001514	T	0.76695	0.4023	N	0.14661	0.345	0.80722	D	1	B;P	0.38767	0.02;0.646	B;B	0.30105	0.013;0.111	T	0.73007	-0.4118	10	0.66056	D	0.02	.	6.8836	0.24187	0.0:0.5747:0.3274:0.0979	.	1616;1696	F8W6H1;Q8IZD2	.;MLL5_HUMAN	A	1696;1654;1616;1696	ENSP00000312379:P1696A;ENSP00000335599:P1654A;ENSP00000257745:P1696A	ENSP00000257745:P1696A	P	+	1	0	MLL5	104540525	1.000000	0.71417	0.971000	0.41717	0.706000	0.40770	1.626000	0.37039	0.560000	0.29169	-0.394000	0.06481	CCA	MLL5	-	NULL		0.587	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753289	+1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	0.901	G
MNT	4335	genome.wustl.edu	37	17	2298236	2298236	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:2298236G>T	ENST00000174618.4	-	2	991	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	196					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		AGGGTCCCCAGCGTGGGTGGG	0.677																																																	0													9.0	11.0	11.0					17																	2298236		2186	4282	6468	SO:0001583	missense	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.586C>A	17.37:g.2298236G>T	ENSP00000174618:p.Leu196Met		A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L196M	ENST00000174618.4	37	c.586	CCDS11018.1	17	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890692	0.52014	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.82344	-1.6	4.24	4.24	0.50183	.	0.320659	0.21684	U	0.070672	D	0.85792	0.5779	L	0.50333	1.59	0.53688	D	0.999975	D	0.65815	0.995	P	0.56278	0.795	D	0.85362	0.1108	10	0.38643	T	0.18	-8.6994	15.9806	0.80105	0.0:0.0:1.0:0.0	.	196	Q99583	MNT_HUMAN	M	196	ENSP00000174618:L196M	ENSP00000174618:L196M	L	-	1	2	MNT	2244986	1.000000	0.71417	0.618000	0.29105	0.638000	0.38207	6.231000	0.72307	2.085000	0.62840	0.563000	0.77884	CTG	MNT	-	NULL		0.677	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	G	NM_020310		2298236	-1	no_errors	ENST00000174618	ensembl	human	known	70_37	missense	SNP	0.969	T
MLLT6	4302	genome.wustl.edu	37	17	36863784	36863784	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:36863784G>C	ENST00000325718.7	+	3	326	c.235G>C	c.(235-237)Gat>Cat	p.D79H	CTB-58E17.1_ENST00000563897.1_lincRNA|CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.D79H	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	79					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAAGAGGACTGATAATGGAGG	0.612			T	MLL	AL																																			Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	0													84.0	87.0	86.0					17																	36863784		2203	4300	6503	SO:0001583	missense	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.235G>C	17.37:g.36863784G>C	ENSP00000316426:p.Asp79His		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D79H	ENST00000325718.7	37	c.235	CCDS11327.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301303	0.81136	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	T;T	0.14516	2.5;2.5	5.71	5.71	0.89125	.	0.061100	0.64402	D	0.000004	T	0.46678	0.1405	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.996;1.0	T	0.52019	-0.8631	10	0.66056	D	0.02	.	18.4098	0.90548	0.0:0.0:1.0:0.0	.	79;79;79	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	H	79	ENSP00000316426:D79H;ENSP00000367377:D79H	ENSP00000316426:D79H	D	+	1	0	MLLT6	34117310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.406000	0.97321	2.700000	0.92200	0.561000	0.74099	GAT	MLLT6	-	NULL		0.612	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT6	HGNC	protein_coding	OTTHUMT00000256799.1	G	NM_005937		36863784	+1	no_errors	ENST00000325718	ensembl	human	known	70_37	missense	SNP	1.000	C
MORC3	23515	genome.wustl.edu	37	21	37741363	37741363	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr21:37741363C>T	ENST00000400485.1	+	15	1773	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	566					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						TTTGAAAATTCAGTTTATAAA	0.333																																																	0													86.0	77.0	80.0					21																	37741363		1877	4117	5994	SO:0001583	missense	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.1697C>T	21.37:g.37741363C>T	ENSP00000383333:p.Ser566Leu		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S566L	ENST00000400485.1	37	c.1697	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336390	0.41398	.	.	ENSG00000159256	ENST00000400485	T	0.15017	2.46	4.44	4.44	0.53790	.	0.807059	0.10998	N	0.610818	T	0.12817	0.0311	L	0.27053	0.805	0.26782	N	0.969579	B	0.02656	0.0	B	0.04013	0.001	T	0.08889	-1.0700	10	0.28530	T	0.3	-3.8638	10.3621	0.44001	0.1322:0.6641:0.2037:0.0	.	566	Q14149	MORC3_HUMAN	L	566	ENSP00000383333:S566L	ENSP00000383333:S566L	S	+	2	0	MORC3	36663233	0.615000	0.27026	0.938000	0.37757	0.986000	0.74619	1.088000	0.30877	2.417000	0.82017	0.491000	0.48974	TCA	MORC3	-	NULL		0.333	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37741363	+1	no_errors	ENST00000400485	ensembl	human	known	70_37	missense	SNP	0.728	T
MTMR2	8898	genome.wustl.edu	37	11	95598789	95598789	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:95598789G>C	ENST00000346299.5	-	3	578	c.238C>G	c.(238-240)Cca>Gca	p.P80A	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.P8A|MTMR2_ENST00000393223.3_Missense_Mutation_p.P8A|MTMR2_ENST00000409459.1_Missense_Mutation_p.P8A	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	80	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTCTCCTGGAAGCAAGGGT	0.403																																																	0													128.0	122.0	124.0					11																	95598789		2201	4298	6499	SO:0001583	missense	8898			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.238C>G	11.37:g.95598789G>C	ENSP00000345752:p.Pro80Ala		A6NN98|Q9UPS9	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.P80A	ENST00000346299.5	37	c.238	CCDS8305.1	11	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483621	0.63962	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.76	5.76	0.90799	GRAM (2);	0.102507	0.64402	D	0.000002	D	0.83811	0.5335	L	0.56124	1.755	0.80722	D	1	B;B	0.16396	0.017;0.016	B;B	0.17098	0.012;0.017	T	0.77963	-0.2390	10	0.36615	T	0.2	.	19.568	0.95403	0.0:0.0:1.0:0.0	.	80;80	A8K5G2;Q13614	.;MTMR2_HUMAN	A	80;8;8;8;8;63	ENSP00000345752:P80A;ENSP00000376915:P8A;ENSP00000386882:P8A;ENSP00000343737:P8A;ENSP00000396020:P8A	ENSP00000345752:P80A	P	-	1	0	MTMR2	95238437	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.887000	0.87295	2.706000	0.92434	0.591000	0.81541	CCA	MTMR2	-	pfam_GRAM,smart_GRAM		0.403	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1	G	NM_016156		95598789	-1	no_errors	ENST00000346299	ensembl	human	known	70_37	missense	SNP	1.000	C
MYEF2	50804	genome.wustl.edu	37	15	48450996	48450996	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:48450996C>G	ENST00000324324.7	-	7	1120	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	MYEF2_ENST00000267836.6_Missense_Mutation_p.E281Q|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	281	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ATTGCTTGCTCAAAAGTGACA	0.418																																																	0													257.0	222.0	234.0					15																	48450996		2198	4297	6495	SO:0001583	missense	50804			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.841G>C	15.37:g.48450996C>G	ENSP00000316950:p.Glu281Gln		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E281Q	ENST00000324324.7	37	c.841	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004144	0.93287	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.18960	2.18;2.18	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.138616	0.64402	D	0.000004	T	0.45175	0.1329	L	0.59912	1.85	0.80722	D	1	P;P	0.52463	0.953;0.813	P;D	0.64410	0.877;0.925	T	0.21109	-1.0255	10	0.72032	D	0.01	-16.1867	19.9991	0.97403	0.0:1.0:0.0:0.0	.	281;281	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	Q	281	ENSP00000316950:E281Q;ENSP00000267836:E281Q	ENSP00000267836:E281Q	E	-	1	0	MYEF2	46238288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.724000	0.93272	0.655000	0.94253	GAG	MYEF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.418	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	C	NM_016132		48450996	-1	no_errors	ENST00000324324	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH13	8735	genome.wustl.edu	37	17	10263346	10263346	+	Silent	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:10263346G>A	ENST00000418404.3	-	6	739	c.576C>T	c.(574-576)gtC>gtT	p.V192V	MYH13_ENST00000252172.4_Silent_p.V192V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	192	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATACTGGATGACACGCTTGG	0.522																																																	0													109.0	110.0	109.0					17																	10263346		2203	4300	6503	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.576C>T	17.37:g.10263346G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V192	ENST00000418404.3	37	c.576	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10263346	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	1.000	A
MYH13	8735	genome.wustl.edu	37	17	10263483	10263483	+	Silent	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:10263483G>A	ENST00000418404.3	-	5	691	c.528C>T	c.(526-528)ctC>ctT	p.L176L	MYH13_ENST00000252172.4_Silent_p.L176L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	176	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCACGTGATGAGGATAGACT	0.413																																																	0													93.0	97.0	96.0					17																	10263483		2196	4296	6492	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.528C>T	17.37:g.10263483G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L176	ENST00000418404.3	37	c.528	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.413	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10263483	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	0.333	A
MYH4	4622	genome.wustl.edu	37	17	10356553	10356553	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:10356553C>T	ENST00000255381.2	-	24	3137	c.3027G>A	c.(3025-3027)caG>caA	p.Q1009Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1009					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCCAGGGTCTGCTGGTGGG	0.488																																																	0													252.0	233.0	240.0					17																	10356553		2203	4300	6503	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3027G>A	17.37:g.10356553C>T				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1009	ENST00000255381.2	37	c.3027	CCDS11154.1	17																																																																																			MYH4	-	NULL		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10356553	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	silent	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36220484	36220484	+	Splice_Site	SNP	T	T	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr13:36220484T>C	ENST00000400445.3	+	50	8240	c.7706T>C	c.(7705-7707)cTg>cCg	p.L2569P	NBEA_ENST00000379922.3_Splice_Site_p.L147P|NBEA_ENST00000379939.2_Splice_Site_p.L2566P|NBEA_ENST00000537702.1_Splice_Site_p.L362P|NBEA_ENST00000540320.1_Splice_Site_p.L2569P|NBEA_ENST00000310336.4_Splice_Site_p.L2569P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2569					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCATGCACCTGGTAAGACAT	0.428																																																	0													80.0	74.0	76.0					13																	36220484		1996	4167	6163	SO:0001630	splice_region_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7707+1T>C	13.37:g.36220484T>C			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.L2569P	ENST00000400445.3	37	c.7706	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938806	0.73557	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.59906	0.54;0.54;0.54;0.54;0.37;0.23	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000005	T	0.59362	0.2188	L	0.43923	1.385	0.80722	D	1	B;P;B	0.39094	0.259;0.659;0.04	B;P;B	0.45998	0.053;0.5;0.029	T	0.62492	-0.6843	10	0.56958	D	0.05	.	15.4408	0.75181	0.0:0.0:0.0:1.0	.	2569;147;2566	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	P	2569;2569;2566;2569;1196;147;362;147	ENSP00000440951:L2569P;ENSP00000383295:L2569P;ENSP00000369271:L2566P;ENSP00000308534:L2569P;ENSP00000440233:L362P;ENSP00000369254:L147P	ENSP00000308534:L2569P	L	+	2	0	NBEA	35118484	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.907000	0.87430	2.109000	0.64355	0.460000	0.39030	CTG	NBEA	-	NULL		0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		T	NM_015678	Missense_Mutation	36220484	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	C
NBEAL2	23218	genome.wustl.edu	37	3	47039707	47039707	+	Missense_Mutation	SNP	G	G	T	rs557357830		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:47039707G>T	ENST00000450053.3	+	21	3288	c.3109G>T	c.(3109-3111)Gtg>Ttg	p.V1037L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.V1037L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1037					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGACTTCGCCGTGCGCCTCGG	0.602																																																	0													33.0	38.0	36.0					3																	47039707		2004	4166	6170	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3109G>T	3.37:g.47039707G>T	ENSP00000415034:p.Val1037Leu		O60288|Q6P994|Q6UX91|Q8NAC9	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.V1037L	ENST00000450053.3	37	c.3109	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303939	0.81136	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.64085	0.63;-0.08	5.74	5.74	0.90152	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.39397	1.21	0.80722	D	1	D	0.53462	0.96	P	0.45712	0.491	T	0.60806	-0.7190	10	0.42905	T	0.14	.	18.4858	0.90828	0.0:0.0:1.0:0.0	.	1037	Q6ZNJ1	NBEL2_HUMAN	L	1037	ENSP00000292309:V1037L;ENSP00000415034:V1037L	ENSP00000292309:V1037L	V	+	1	0	NBEAL2	47014711	1.000000	0.71417	0.969000	0.41365	0.714000	0.41099	6.598000	0.74122	2.712000	0.92718	0.561000	0.74099	GTG	NBEAL2	-	NULL		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47039707	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	T
NBR1	4077	genome.wustl.edu	37	17	41348588	41348588	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:41348588C>T	ENST00000422280.1	+	15	2300	c.1841C>T	c.(1840-1842)gCa>gTa	p.A614V	NBR1_ENST00000341165.6_Missense_Mutation_p.A614V|NBR1_ENST00000589872.1_Missense_Mutation_p.A614V|NBR1_ENST00000542611.1_Missense_Mutation_p.A593V|NBR1_ENST00000389312.4_Missense_Mutation_p.A614V|NBR1_ENST00000590996.1_Missense_Mutation_p.A614V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	614	ATG8 family protein-binding.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AATGAAGGGGCAGGATTTAAA	0.448																																																	0													60.0	53.0	55.0					17																	41348588		1568	3581	5149	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1841C>T	17.37:g.41348588C>T	ENSP00000411250:p.Ala614Val		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.A614V	ENST00000422280.1	37	c.1841	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711877	0.30322	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.62	2.59	0.31030	.	.	.	.	.	T	0.18676	0.0448	L	0.50333	1.59	0.09310	N	1	B;B;B	0.29646	0.129;0.253;0.124	B;B;B	0.32980	0.036;0.156;0.054	T	0.31475	-0.9942	9	0.54805	T	0.06	0.5293	3.0299	0.06103	0.1181:0.5389:0.1278:0.2152	.	593;614;614	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	V	614;593;614;614;614	ENSP00000411250:A614V;ENSP00000437545:A593V;ENSP00000343479:A614V;ENSP00000373963:A614V	ENSP00000343479:A614V	A	+	2	0	NBR1	38704114	0.997000	0.39634	0.896000	0.35187	0.560000	0.35617	2.071000	0.41500	0.328000	0.23435	-0.229000	0.12294	GCA	NBR1	-	NULL		0.448	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	C	NM_005899		41348588	+1	no_errors	ENST00000341165	ensembl	human	known	70_37	missense	SNP	0.242	T
NIPAL3	57185	genome.wustl.edu	37	1	24787009	24787009	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:24787009C>T	ENST00000374399.4	+	10	1269	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	NIPAL3_ENST00000003912.3_Silent_p.L219L|NIPAL3_ENST00000339255.2_Silent_p.L301L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	301						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GGAGGACGTGCTGCACATCTG	0.498																																																	0													168.0	137.0	148.0					1																	24787009		2203	4300	6503	SO:0001819	synonymous_variant	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.901C>T	1.37:g.24787009C>T			A2A298|Q6MZT9|Q9BVE6	Silent	SNP	pfam_Mg_trans_NIPA	p.L301	ENST00000374399.4	37	c.901	CCDS30631.1	1																																																																																			NIPAL3	-	pfam_Mg_trans_NIPA		0.498	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	HGNC	protein_coding	OTTHUMT00000276996.1	C	NM_020448		24787009	+1	no_errors	ENST00000374399	ensembl	human	known	70_37	silent	SNP	0.999	T
NRD1	4898	genome.wustl.edu	37	1	52287195	52287195	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:52287195C>T	ENST00000354831.7	-	10	1585	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	NRD1_ENST00000539524.1_Missense_Mutation_p.E334K|NRD1_ENST00000544028.1_Missense_Mutation_p.E266K|NRD1_ENST00000352171.7_Missense_Mutation_p.E398K|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	397					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GAGAAGATTTCAGTCACCCAC	0.373																																																	0													106.0	100.0	102.0					1																	52287195		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1396G>A	1.37:g.52287195C>T	ENSP00000346890:p.Glu466Lys		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E466K	ENST00000354831.7	37	c.1396	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839347	0.71488	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.51	5.51	0.81932	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.086986	0.85682	D	0.000000	T	0.06690	0.0171	N	0.25789	0.76	0.80722	D	1	P;P;P	0.40398	0.669;0.716;0.716	B;B;B	0.38225	0.175;0.268;0.268	T	0.45381	-0.9265	10	0.33940	T	0.23	-14.4364	17.5924	0.88000	0.0:1.0:0.0:0.0	.	398;397;466	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	K	398;466;334;398;266	ENSP00000262679:E398K;ENSP00000346890:E466K;ENSP00000444416:E334K;ENSP00000442262:E266K	ENSP00000262679:E398K	E	-	1	0	NRD1	52059783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.113000	0.77095	2.577000	0.86979	0.655000	0.94253	GAA	NRD1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	C	NM_002525		52287195	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	missense	SNP	1.000	T
NCF2	4688	genome.wustl.edu	37	1	183536381	183536381	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:183536381C>T	ENST00000367535.3	-	8	1064	c.813G>A	c.(811-813)aaG>aaA	p.K271K	NCF2_ENST00000367536.1_Silent_p.K271K|NCF2_ENST00000418089.1_Silent_p.K190K|NCF2_ENST00000413720.1_Silent_p.K226K	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	271	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CATTGCCCTTCTTCAAGACAA	0.547																																																	0													300.0	269.0	280.0					1																	183536381		2203	4300	6503	SO:0001819	synonymous_variant	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.813G>A	1.37:g.183536381C>T			B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.K271	ENST00000367535.3	37	c.813	CCDS1356.1	1																																																																																			NCF2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.547	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	C	NM_000433		183536381	-1	no_errors	ENST00000367535	ensembl	human	known	70_37	silent	SNP	1.000	T
NRP1	8829	genome.wustl.edu	37	10	33545393	33545393	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:33545393G>T	ENST00000265371.4	-	6	1190	c.665C>A	c.(664-666)cCt>cAt	p.P222H	NRP1_ENST00000395995.1_Missense_Mutation_p.P222H|NRP1_ENST00000374867.2_Missense_Mutation_p.P222H|NRP1_ENST00000374822.4_Missense_Mutation_p.P222H|NRP1_ENST00000374816.3_Missense_Mutation_p.P222H|NRP1_ENST00000374821.5_Missense_Mutation_p.P222H|NRP1_ENST00000374823.5_Missense_Mutation_p.P222H|NRP1_ENST00000432372.2_Missense_Mutation_p.P222H|NRP1_ENST00000374875.1_Missense_Mutation_p.P41H			O14786	NRP1_HUMAN	neuropilin 1	222	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCCAATGTGAGGGCCAACTGG	0.478																																					Melanoma(104;886 1489 44640 45944 51153)												0													82.0	69.0	74.0					10																	33545393		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.665C>A	10.37:g.33545393G>T	ENSP00000265371:p.Pro222His		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.P222H	ENST00000265371.4	37	c.665	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881125	0.91740	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	T;T;T;T;T;T;T;T	0.32515	1.45;2.16;1.45;1.45;1.45;1.45;1.45;1.45	5.85	5.85	0.93711	CUB (5);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.81614	2.55	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.987;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.947;1.0;1.0;1.0;1.0;1.0	T	0.64050	-0.6498	10	0.87932	D	0	-16.4619	20.1731	0.98165	0.0:0.0:1.0:0.0	.	222;222;222;222;222;222;222;41;222	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	H	222;41;222;222;222;222;222;222;41	ENSP00000265371:P222H;ENSP00000364009:P41H;ENSP00000364001:P222H;ENSP00000379317:P222H;ENSP00000363955:P222H;ENSP00000363954:P222H;ENSP00000363956:P222H;ENSP00000363949:P222H	ENSP00000265371:P222H	P	-	2	0	NRP1	33585399	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.830000	0.99415	2.768000	0.95171	0.655000	0.94253	CCT	NRP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB		0.478	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	G			33545393	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	missense	SNP	1.000	T
OR8B3	390271	genome.wustl.edu	37	11	124267083	124267083	+	Silent	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:124267083G>C	ENST00000354597.3	-	1	181	c.165C>G	c.(163-165)ctC>ctG	p.L55L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTGGTGTGTGGAGGTGAGAAT	0.403																																																	0													130.0	133.0	132.0					11																	124267083		2201	4299	6500	SO:0001819	synonymous_variant	390271			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.165C>G	11.37:g.124267083G>C			Q6IFQ8|Q8NGH1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L55	ENST00000354597.3	37	c.165	CCDS31709.1	11																																																																																			OR8B3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B3	HGNC	protein_coding	OTTHUMT00000387291.1	G	NM_001005467		124267083	-1	no_errors	ENST00000354597	ensembl	human	known	70_37	silent	SNP	0.892	C
OSMR	9180	genome.wustl.edu	37	5	38876431	38876431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:38876431C>T	ENST00000274276.3	+	3	604	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	OSMR_ENST00000502536.1_Nonsense_Mutation_p.Q68*	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	68					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AATGGTATTTCAGATCCAGAT	0.348																																																	0													96.0	87.0	90.0					5																	38876431		2203	4300	6503	SO:0001587	stop_gained	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.202C>T	5.37:g.38876431C>T	ENSP00000274276:p.Gln68*		Q6P4E8|Q96QJ6	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q68*	ENST00000274276.3	37	c.202	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	C	38	7.278513	0.98182	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	.	.	.	5.11	4.23	0.50019	.	1.195770	0.05590	N	0.574530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.7036	0.51585	0.0:0.8221:0.1779:0.0	.	.	.	.	X	68	.	ENSP00000274276:Q68X	Q	+	1	0	OSMR	38912188	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.271000	0.43364	1.497000	0.48584	0.561000	0.74099	CAG	OSMR	-	NULL		0.348	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	C	NM_003999		38876431	+1	no_errors	ENST00000274276	ensembl	human	known	70_37	nonsense	SNP	1.000	T
OTOGL	283310	genome.wustl.edu	37	12	80661098	80661098	+	Missense_Mutation	SNP	C	C	T	rs199855270	byFrequency	TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:80661098C>T	ENST00000547103.1	+	21	2435	c.2429C>T	c.(2428-2430)tCg>tTg	p.S810L	OTOGL_ENST00000458043.2_Missense_Mutation_p.S810L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	810					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCCACACCCTCGGGCTTATGG	0.333																																																	0								C	LEU/SER	1,3663		0,1,1831	63.0	60.0	61.0		2429	2.6	0.8	12		61	15,8171		0,15,4078	yes	missense	OTOGL	NM_173591.3	145	0,16,5909	TT,TC,CC		0.1832,0.0273,0.135		810/2345	80661098	16,11834	1832	4093	5925	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2429C>T	12.37:g.80661098C>T	ENSP00000447211:p.Ser810Leu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S810L	ENST00000547103.1	37	c.2429		12	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226222	0.22542	2.73E-4	0.001832	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.16597	2.33;2.33	5.37	2.59	0.31030	.	.	.	.	.	T	0.11922	0.0290	N	0.20401	0.57	0.27674	N	0.946653	.	.	.	.	.	.	T	0.31971	-0.9924	7	0.23891	T	0.37	.	9.284	0.37746	0.0:0.7791:0.0:0.2209	.	.	.	.	L	810	ENSP00000447211:S810L;ENSP00000400895:S810L	ENSP00000400895:S810L	S	+	2	0	OTOGL	79185229	0.996000	0.38824	0.754000	0.31244	0.699000	0.40488	1.905000	0.39878	0.356000	0.24157	-0.781000	0.03364	TCG	OTOGL	-	smart_VWC_out		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80661098	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.850	T
OVCH2	341277	genome.wustl.edu	37	11	7716913	7716913	+	RNA	SNP	T	T	A	rs372744251		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:7716913T>A	ENST00000533663.1	-	0	0				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TAAGAATGGATGAggccgggc	0.517																																																	0													31.0	27.0	28.0					11																	7716913		1795	4050	5845			341277			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7716913T>A				Splice_Site	SNP	-	e12-2	ENST00000533663.1	37	c.1172-2		11	.	.	.	.	.	.	.	.	.	.	T	9.209	1.030505	0.19512	.	.	ENSG00000183378	ENST00000454689	.	.	.	2.99	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7424	0.28849	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OVCH2	7673489	1.000000	0.71417	0.173000	0.22940	0.020000	0.10135	0.290000	0.18975	1.313000	0.45069	0.000000	0.15137	.	OVCH2	-	-		0.517	OVCH2-002	KNOWN	basic	processed_transcript	OVCH2	HGNC	polymorphic_pseudogene	OTTHUMT00000383928.1	T	NM_198185		7716913	-1	no_errors	ENST00000454689	ensembl	human	known	70_37	splice_site	SNP	0.581	A
PCDHA5	56143	genome.wustl.edu	37	5	140202753	140202753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:140202753G>T	ENST00000529859.1	+	1	1393	c.1393G>T	c.(1393-1395)Gag>Tag	p.E465*	PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.E465*|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.E465*|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	465	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGAAGGAGAACAACCC	0.662																																																	0													69.0	73.0	72.0					5																	140202753		2202	4300	6502	SO:0001587	stop_gained	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1393G>T	5.37:g.140202753G>T	ENSP00000436557:p.Glu465*		O75284|Q8N4R3	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E465*	ENST00000529859.1	37	c.1393	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.167321	0.97343	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0688	0.80909	0.0:0.0:1.0:0.0	.	.	.	.	X	465	.	ENSP00000367366:E465X	E	+	1	0	PCDHA5	140182937	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.611000	0.98342	1.827000	0.53221	0.461000	0.40582	GAG	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	G	NM_018908		140202753	+1	no_errors	ENST00000529859	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PCNA	5111	genome.wustl.edu	37	20	5098124	5098124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:5098124C>A	ENST00000379160.3	-	5	816	c.574G>T	c.(574-576)Gag>Tag	p.E192*	PCNA_ENST00000379143.5_Nonsense_Mutation_p.E192*	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	192					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACAGCTTCCTCCTCTTTATCG	0.303								DNA polymerases (catalytic subunits)																																									0													52.0	54.0	53.0					20																	5098124		2203	4299	6502	SO:0001587	stop_gained	5111			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.574G>T	20.37:g.5098124C>A	ENSP00000368458:p.Glu192*		B2R897|D3DW02	Nonsense_Mutation	SNP	pfam_Pr_cel_nuc_antig_C,pfam_Pr_cel_nuc_antig_N,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig	p.E192*	ENST00000379160.3	37	c.574	CCDS13087.1	20	.	.	.	.	.	.	.	.	.	.	C	39	7.351853	0.98231	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	5.4	4.47	0.54385	.	0.089937	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-14.6595	12.8447	0.57823	0.0:0.9204:0.0:0.0796	.	.	.	.	X	192	.	ENSP00000368438:E192X	E	-	1	0	PCNA	5046124	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.676000	0.84012	1.293000	0.44690	0.462000	0.41574	GAG	PCNA	-	pfam_Pr_cel_nuc_antig_C,pfam_Rad9/Ddc1,tigrfam_Pr_cel_nuc_antig		0.303	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCNA	HGNC	protein_coding	OTTHUMT00000077852.2	C			5098124	-1	no_errors	ENST00000379143	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PCYOX1	51449	genome.wustl.edu	37	2	70504018	70504018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:70504018C>T	ENST00000433351.2	+	6	1040	c.1012C>T	c.(1012-1014)Caa>Taa	p.Q338*	PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.Q260*|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.Q261*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	338					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGAATTCCATCAATATTATCA	0.348																																																	0													55.0	58.0	57.0					2																	70504018		2203	4300	6503	SO:0001587	stop_gained	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.1012C>T	2.37:g.70504018C>T	ENSP00000387654:p.Gln338*		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.Q338*	ENST00000433351.2	37	c.1012	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665372	0.88251	.	.	ENSG00000116005	ENST00000505044;ENST00000433351;ENST00000545138	.	.	.	5.65	3.79	0.43588	.	0.385280	0.29152	N	0.012990	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-1.752	8.4626	0.32936	0.2498:0.4676:0.2827:0.0	.	.	.	.	X	261;338;260	.	ENSP00000387654:Q338X	Q	+	1	0	PCYOX1	70357522	0.819000	0.29175	0.832000	0.32986	0.794000	0.44872	1.983000	0.40648	0.874000	0.35823	0.655000	0.94253	CAA	PCYOX1	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.348	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	C	NM_016297		70504018	+1	no_errors	ENST00000433351	ensembl	human	known	70_37	nonsense	SNP	0.859	T
PCYT1B	9468	genome.wustl.edu	37	X	24580054	24580054	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:24580054G>A	ENST00000379144.2	-	0	1596				PCYT1B_ENST00000379145.1_3'UTR|PCYT1B_ENST00000356768.4_3'UTR	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGGAACAGCCGCTGCCACAGG	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	9468			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.*356C>T	X.37:g.24580054G>A			A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	RNA	SNP	-	NULL	ENST00000379144.2	37	NULL	CCDS14213.1	X																																																																																			PCYT1B	-	-		0.537	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1	G	NM_004845		24580054	-1	no_errors	ENST00000492876	ensembl	human	known	70_37	rna	SNP	0.000	A
PDE2A	5138	genome.wustl.edu	37	11	72301026	72301026	+	Splice_Site	SNP	C	C	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:72301026C>A	ENST00000334456.5	-	10	1002		c.e10-1		PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Splice_Site|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Splice_Site	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCTGCTGCAGCTGAGAGAGGG	0.672											OREG0021197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15.0	17.0	17.0					11																	72301026		2196	4290	6486	SO:0001630	splice_region_variant	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.757-1G>T	11.37:g.72301026C>A		1136	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Splice_Site	SNP	-	e10-1	ENST00000334456.5	37	c.757-1	CCDS8216.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.566288|3.566288	0.65651|0.65651	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807|ENST00000538299	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71195	.|0.3311	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70241	.|-0.4926	.|4	.|.	.|.	.|.	.|.	15.2813|15.2813	0.73787|0.73787	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|14	.|.	.|.	.|A	-|-	.|1	.|0	PDE2A|PDE2A	71978674|71978674	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.726000|0.726000	0.41606|0.41606	6.420000|6.420000	0.73349|0.73349	2.375000|2.375000	0.81037|0.81037	0.591000|0.591000	0.81541|0.81541	.|GCT	PDE2A	-	-		0.672	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	C	NM_002599	Intron	72301026	-1	no_errors	ENST00000334456	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PDZD2	23037	genome.wustl.edu	37	5	32110196	32110196	+	3'UTR	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:32110196C>G	ENST00000438447.1	+	0	10863				CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTGTGGTTTCTGCTTTCTTG	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.*1955C>G	5.37:g.32110196C>G			Q9BXD4	RNA	SNP	-	NULL	ENST00000438447.1	37	NULL	CCDS34137.1	5																																																																																			PDZD2	-	-		0.368	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	C			32110196	+1	no_errors	ENST00000513490	ensembl	human	known	70_37	rna	SNP	0.985	G
PEX14	5195	genome.wustl.edu	37	1	10689808	10689808	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:10689808G>A	ENST00000356607.4	+	9	978	c.898G>A	c.(898-900)Gag>Aag	p.E300K	PEX14_ENST00000538836.1_Missense_Mutation_p.E236K	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	300					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGAAGGCGAGGGGGTGGT	0.652																																																	0													136.0	125.0	129.0					1																	10689808		2191	4288	6479	SO:0001583	missense	5195			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.898G>A	1.37:g.10689808G>A	ENSP00000349016:p.Glu300Lys		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.E300K	ENST00000356607.4	37	c.898	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	G	8.971	0.972977	0.18736	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.22743	1.95;1.94	4.7	3.78	0.43462	.	0.554792	0.19724	N	0.107512	T	0.10937	0.0267	N	0.21448	0.665	0.26588	N	0.973252	B;B	0.17268	0.021;0.002	B;B	0.14023	0.01;0.001	T	0.32295	-0.9912	10	0.10636	T	0.68	.	5.5007	0.16827	0.0784:0.1483:0.6337:0.1396	.	257;300	O75381-2;O75381	.;PEX14_HUMAN	K	300;236	ENSP00000349016:E300K;ENSP00000444877:E236K	ENSP00000349016:E300K	E	+	1	0	PEX14	10612395	0.442000	0.25633	0.958000	0.39756	0.870000	0.49936	0.794000	0.26958	1.084000	0.41184	0.563000	0.77884	GAG	PEX14	-	NULL		0.652	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	G			10689808	+1	no_errors	ENST00000356607	ensembl	human	known	70_37	missense	SNP	0.947	A
PHF12	57649	genome.wustl.edu	37	17	27277153	27277153	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:27277153C>T	ENST00000332830.4	-	2	988	c.178G>A	c.(178-180)Gat>Aat	p.D60N	PHF12_ENST00000268756.3_Missense_Mutation_p.D60N|PHF12_ENST00000577226.1_Missense_Mutation_p.D60N	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGCAGCTATCGCAGCTGTCG	0.627																																																	0													105.0	92.0	96.0					17																	27277153		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.178G>A	17.37:g.27277153C>T	ENSP00000329933:p.Asp60Asn			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.D60N	ENST00000332830.4	37	c.178	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694421	0.88830	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.87412	-2.25;-2.25;-2.25	4.44	4.44	0.53790	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.108194	0.64402	D	0.000010	D	0.90293	0.6964	L	0.39514	1.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.996	D;D;D;D;D	0.91635	0.999;0.964;0.998;0.951;0.951	D	0.90465	0.4449	10	0.49607	T	0.09	-7.2797	16.1692	0.81790	0.0:1.0:0.0:0.0	.	42;60;60;60;60	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	N	60	ENSP00000329933:D60N;ENSP00000368157:D60N;ENSP00000268756:D60N	ENSP00000268756:D60N	D	-	1	0	PHF12	24301279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.174000	0.77620	2.443000	0.82685	0.655000	0.94253	GAT	PHF12	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.627	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27277153	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	T
PHF23	79142	genome.wustl.edu	37	17	7140950	7140950	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:7140950G>T	ENST00000320316.3	-	2	290	c.64C>A	c.(64-66)Cag>Aag	p.Q22K	PHF23_ENST00000454255.2_Missense_Mutation_p.Q18K|PHF23_ENST00000576955.1_Intron|PHF23_ENST00000571362.1_Missense_Mutation_p.Q22K|PHF23_ENST00000570753.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	22							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						AACCTCACCTGAGTCTCTGGC	0.517																																																	0													130.0	145.0	140.0					17																	7140950		1964	4140	6104	SO:0001583	missense	79142			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.64C>A	17.37:g.7140950G>T	ENSP00000322579:p.Gln22Lys		A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.Q22K	ENST00000320316.3	37	c.64	CCDS42250.1	17	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116803	0.56505	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.32272	1.46;1.49	4.7	4.7	0.59300	.	0.088273	0.48286	D	0.000183	T	0.20901	0.0503	L	0.34521	1.04	0.34356	D	0.690362	P;P	0.48764	0.915;0.915	B;B	0.41088	0.347;0.258	T	0.11421	-1.0588	10	0.07175	T	0.84	-4.9706	13.1244	0.59346	0.0:0.0:1.0:0.0	.	22;22	B4DLK6;Q9BUL5	.;PHF23_HUMAN	K	22;18;22	ENSP00000322579:Q22K;ENSP00000414607:Q18K	ENSP00000043410:Q22K	Q	-	1	0	PHF23	7081674	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.840000	0.69402	2.140000	0.66376	0.557000	0.71058	CAG	PHF23	-	NULL		0.517	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF23	HGNC	protein_coding	OTTHUMT00000440047.1	G	NM_024297		7140950	-1	no_errors	ENST00000320316	ensembl	human	known	70_37	missense	SNP	1.000	T
PHF12	57649	genome.wustl.edu	37	17	27277195	27277195	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:27277195C>G	ENST00000332830.4	-	2	946	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	PHF12_ENST00000268756.3_Missense_Mutation_p.E46Q|PHF12_ENST00000577226.1_Missense_Mutation_p.E46Q	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTCCGGGGCTCCTTCTCAGGC	0.617																																																	0													71.0	68.0	69.0					17																	27277195		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.136G>C	17.37:g.27277195C>G	ENSP00000329933:p.Glu46Gln			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.E46Q	ENST00000332830.4	37	c.136	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256843	0.80246	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94576	-3.45;-3.46;-3.46	4.43	4.43	0.53597	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.171772	0.50627	D	0.000111	D	0.95661	0.8589	L	0.55481	1.735	0.80722	D	1	D;D;D;P;P	0.69078	0.99;0.997;0.994;0.92;0.791	P;P;P;B;B	0.61397	0.815;0.888;0.87;0.444;0.351	D	0.95651	0.8707	10	0.54805	T	0.06	-10.563	16.1538	0.81644	0.0:1.0:0.0:0.0	.	28;46;46;46;46	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	Q	46	ENSP00000329933:E46Q;ENSP00000368157:E46Q;ENSP00000268756:E46Q	ENSP00000268756:E46Q	E	-	1	0	PHF12	24301321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.429000	0.66495	2.442000	0.82660	0.655000	0.94253	GAG	PHF12	-	superfamily_Znf_FYVE_PHD		0.617	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27277195	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	G
PID1	55022	genome.wustl.edu	37	2	229890630	229890630	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:229890630G>T	ENST00000354069.6	-	3	501	c.471C>A	c.(469-471)caC>caA	p.H157Q	PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.H124Q|PID1_ENST00000409462.1_Missense_Mutation_p.H75Q|PID1_ENST00000392054.3_Missense_Mutation_p.H155Q			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	157	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGGTATCCATGTGCACTGTGG	0.582																																																	0													129.0	122.0	124.0					2																	229890630		2203	4300	6503	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.471C>A	2.37:g.229890630G>T	ENSP00000283937:p.His157Gln		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.H157Q	ENST00000354069.6	37	c.471		2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658176	0.47467	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.55	3.73	0.42828	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.217930	0.50627	D	0.000115	T	0.42698	0.1214	L	0.38175	1.15	0.43550	D	0.99585	P;P;P;P	0.48589	0.654;0.531;0.893;0.912	B;B;B;B	0.42653	0.063;0.063;0.394;0.313	T	0.31052	-0.9957	8	.	.	.	-34.2038	12.2225	0.54441	0.146:0.0:0.854:0.0	.	75;124;155;157	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	Q	155;75;124;157;157	.	.	H	-	3	2	PID1	229598874	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.043000	0.49823	1.486000	0.48398	0.655000	0.94253	CAC	PID1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom		0.582	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	G	NM_017933		229890630	-1	no_errors	ENST00000354069	ensembl	human	known	70_37	missense	SNP	1.000	T
PIGR	5284	genome.wustl.edu	37	1	207110701	207110701	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:207110701C>T	ENST00000356495.4	-	4	967	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	262	Ig-like V-type 3.			E -> Q (in Ref. 6; AA sequence and 7; AA sequence). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTTGCCACCTCAGGGCCCAGG	0.572																																																	0													64.0	64.0	64.0					1																	207110701		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.784G>A	1.37:g.207110701C>T	ENSP00000348888:p.Glu262Lys		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E262K	ENST00000356495.4	37	c.784	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075551	0.55646	.	.	ENSG00000162896	ENST00000356495	T	0.65178	-0.14	5.79	0.163	0.14986	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.066680	0.07167	N	0.851724	T	0.47893	0.1470	L	0.37850	1.14	0.09310	N	1	P	0.34562	0.457	B	0.35182	0.197	T	0.38972	-0.9636	10	0.33141	T	0.24	-21.1965	4.0456	0.09771	0.0:0.4364:0.1728:0.3908	.	262	P01833	PIGR_HUMAN	K	262	ENSP00000348888:E262K	ENSP00000348888:E262K	E	-	1	0	PIGR	205177324	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.568000	0.05909	0.376000	0.24707	0.655000	0.94253	GAG	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr		0.572	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	C	NM_002644		207110701	-1	no_errors	ENST00000356495	ensembl	human	known	70_37	missense	SNP	0.000	T
PKD1L2	114780	genome.wustl.edu	37	16	81253777	81253777	+	RNA	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:81253777G>C	ENST00000525539.1	-	0	198				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTTCGTCCTGAATGAAGACC	0.562																																																	0													109.0	106.0	107.0					16																	81253777		2045	4206	6251			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253777G>C			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.Q67E	ENST00000525539.1	37	c.199		16	.	.	.	.	.	.	.	.	.	.	G	0.276	-0.989670	0.02162	.	.	ENSG00000166473	ENST00000337114	T	0.16457	2.34	4.17	2.02	0.26589	C-type lectin fold (1);C-type lectin (3);	1.314310	0.05012	N	0.471173	T	0.06325	0.0163	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33929	-0.9849	9	0.02654	T	1	3.4229	4.4718	0.11715	0.0943:0.2556:0.5219:0.1282	.	67;67	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	E	67	ENSP00000337397:Q67E	ENSP00000337397:Q67E	Q	-	1	0	PKD1L2	79811278	0.978000	0.34361	0.692000	0.30179	0.164000	0.22412	1.923000	0.40055	0.966000	0.38159	0.563000	0.77884	CAG	DKFZP686J19100	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	Uniprot_genename	polymorphic_pseudogene	OTTHUMT00000387972.2	G			81253777	-1	no_errors	ENST00000337114	ensembl	human	known	70_37	missense	SNP	0.175	C
POLR1A	25885	genome.wustl.edu	37	2	86267661	86267661	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:86267661C>T	ENST00000263857.6	-	25	3972	c.3594G>A	c.(3592-3594)ctG>ctA	p.L1198L	POLR1A_ENST00000409681.1_Silent_p.L1198L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1198					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.L1198L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCTGCCACTTCAGCTGCAGCA	0.647																																																	1	Substitution - coding silent(1)	lung(1)											33.0	39.0	38.0					2																	86267661		1948	4139	6087	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3594G>A	2.37:g.86267661C>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.L1198	ENST00000263857.6	37	c.3594	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.647	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86267661	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	0.193	T
POLR1A	25885	genome.wustl.edu	37	2	86276325	86276325	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:86276325C>G	ENST00000263857.6	-	17	2811	c.2433G>C	c.(2431-2433)aaG>aaC	p.K811N	POLR1A_ENST00000409681.1_Missense_Mutation_p.K811N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	811					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TACGTTGCCTCTTGACATCTG	0.552																																																	0													144.0	148.0	147.0					2																	86276325		1998	4162	6160	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2433G>C	2.37:g.86276325C>G	ENSP00000263857:p.Lys811Asn		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.K811N	ENST00000263857.6	37	c.2433	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045461	0.36085	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68624	-0.34;-0.34	5.18	5.18	0.71444	.	0.736221	0.14063	N	0.343921	T	0.62490	0.2432	L	0.55481	1.735	0.48135	D	0.999591	B	0.22983	0.078	B	0.25759	0.063	T	0.56050	-0.8043	10	0.28530	T	0.3	-6.703	12.9027	0.58135	0.0:0.9148:0.0:0.0852	.	811	O95602	RPA1_HUMAN	N	811	ENSP00000263857:K811N;ENSP00000386300:K811N	ENSP00000263857:K811N	K	-	3	2	POLR1A	86129836	0.980000	0.34600	0.862000	0.33874	0.029000	0.11900	2.464000	0.45067	2.595000	0.87683	0.655000	0.94253	AAG	POLR1A	-	NULL		0.552	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86276325	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.996	G
POTEI	653269	genome.wustl.edu	37	2	131221222	131221222	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:131221222C>T	ENST00000451531.2	-	15	2825	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K		NM_001277406.1	NP_001264335.1	P0CG38	POTEI_HUMAN	POTE ankyrin domain family, member I	799	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(11)	11						GGGTGCTCCTCAGGGGCCACA	0.582																																																	0																																										SO:0001583	missense	653269				CCDS59431.1	2q21.1	2013-01-10			ENSG00000196834	ENSG00000196834		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37093	protein-coding gene	gene with protein product						16364570	Standard	NM_001277406		Approved	POTE2beta	uc031rpa.1	P0CG38	OTTHUMG00000153925	ENST00000451531.2:c.2395G>A	2.37:g.131221222C>T	ENSP00000392718:p.Glu799Lys			Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E799K	ENST00000451531.2	37	c.2395	CCDS59431.1	2	.	.	.	.	.	.	.	.	.	.	.	16.36	3.101500	0.56183	.	.	ENSG00000196834	ENST00000451531	D	0.94828	-3.53	.	.	.	.	.	.	.	.	D	0.95934	0.8676	M	0.91090	3.175	0.26613	N	0.972808	.	.	.	.	.	.	D	0.91015	0.4853	6	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	.	.	.	K	799	ENSP00000392718:E799K	ENSP00000392718:E799K	E	-	1	0	POTEI	130937692	1.000000	0.71417	0.060000	0.19600	0.061000	0.15899	5.236000	0.65354	0.119000	0.18210	0.121000	0.15741	GAG	POTEI	-	pfam_Actin-like,smart_Actin-like		0.582	POTEI-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEI	HGNC	protein_coding	OTTHUMT00000333222.2	C	XM_928585		131221222	-1	no_errors	ENST00000451531	ensembl	human	novel	70_37	missense	SNP	1.000	T
PPL	5493	genome.wustl.edu	37	16	4936000	4936000	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr16:4936000C>G	ENST00000345988.2	-	22	2745	c.2656G>C	c.(2656-2658)Gac>Cac	p.D886H	PPL_ENST00000590782.2_Missense_Mutation_p.D884H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	886					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACTCCAGAGTCCGGCCTATTC	0.562																																																	0													66.0	69.0	68.0					16																	4936000		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2656G>C	16.37:g.4936000C>G	ENSP00000340510:p.Asp886His		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D886H	ENST00000345988.2	37	c.2656	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109773	0.37242	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.07	4.1	0.47936	.	0.385903	0.26279	N	0.025298	T	0.30603	0.0770	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.27262	0.078	T	0.30268	-0.9984	10	0.54805	T	0.06	.	13.9118	0.63871	0.0:0.9249:0.0:0.0751	.	886	O60437	PEPL_HUMAN	H	886	ENSP00000340510:D886H	ENSP00000340510:D886H	D	-	1	0	PPL	4876001	0.000000	0.05858	0.130000	0.21974	0.010000	0.07245	0.976000	0.29462	1.110000	0.41699	0.455000	0.32223	GAC	PPL	-	NULL		0.562	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4936000	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.112	G
PPP2R2C	5522	genome.wustl.edu	37	4	6325074	6325074	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:6325074G>C	ENST00000382599.4	-	9	1515	c.1299C>G	c.(1297-1299)aaC>aaG	p.N433K	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N426K|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N426K|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N416K|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.N433K			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	433					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGTACAGGTTGTTGGTGGCGG	0.562																																																	0													211.0	153.0	172.0					4																	6325074		2203	4300	6503	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1299C>G	4.37:g.6325074G>C	ENSP00000372042:p.Asn433Lys		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.N433K	ENST00000382599.4	37	c.1299		4	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903959	0.72754	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	H	0.94698	3.57	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.997	D;D;D;D	0.74674	0.942;0.984;0.961;0.96	T	0.78003	-0.2374	10	0.87932	D	0	-69.5259	16.6014	0.84816	0.0:0.0:1.0:0.0	.	426;433;416;433	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	K	433;426;416;433;426	ENSP00000335083:N433K;ENSP00000423649:N426K;ENSP00000422374:N416K;ENSP00000372042:N433K;ENSP00000425247:N426K	ENSP00000335083:N433K	N	-	3	2	PPP2R2C	6375975	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.399000	0.66314	2.397000	0.81536	0.561000	0.74099	AAC	PPP2R2C	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.562	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6325074	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	missense	SNP	1.000	C
PRICKLE4	29964	genome.wustl.edu	37	6	41754697	41754697	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:41754697G>C	ENST00000394260.1	+	5	865	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.E329Q|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.E329Q|TOMM6_ENST00000398881.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	289						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E329*(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATGCCGCCTGGAGACTATTCG	0.602											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Nonsense(2)	endometrium(2)											119.0	142.0	134.0					6																	41754697		2203	4300	6503	SO:0001583	missense	29964			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.865G>C	6.37:g.41754697G>C	ENSP00000377803:p.Glu289Gln	903	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.E329Q	ENST00000394260.1	37	c.985		6	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908923	0.33721	.	.	ENSG00000124593	ENST00000458694;ENST00000394263;ENST00000394260	D;D;D	0.85171	-1.95;-1.95;-1.95	3.72	-1.37	0.09056	.	1.162450	0.06360	N	0.711577	T	0.47600	0.1454	N	0.14661	0.345	0.20074	N	0.999937	B	0.09022	0.002	B	0.15484	0.013	T	0.25293	-1.0136	10	0.34782	T	0.22	-1.1846	1.3398	0.02152	0.3533:0.1444:0.3636:0.1387	.	329	Q2TBC4-3	.	Q	329;329;289	ENSP00000404911:E329Q;ENSP00000377806:E329Q;ENSP00000377803:E289Q	ENSP00000335185:E329Q	E	+	1	0	PRICKLE4	41862675	0.050000	0.20438	0.000000	0.03702	0.002000	0.02628	0.548000	0.23314	-0.318000	0.08665	-0.254000	0.11334	GAG	PRICKLE4	-	NULL		0.602	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	HGNC	protein_coding	OTTHUMT00000303948.1	G	NM_013397		41754697	+1	no_errors	ENST00000335515	ensembl	human	known	70_37	missense	SNP	0.019	C
PROK1	84432	genome.wustl.edu	37	1	110993841	110993841	+	Start_Codon_SNP	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:110993841G>A	ENST00000271331.3	+	1	20	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	1					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGTGACCATGAGAGGTGCCA	0.572																																																	0													220.0	168.0	186.0					1																	110993841		2203	4300	6503	SO:0001582	initiator_codon_variant	84432			AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.3G>A	1.37:g.110993841G>A	ENSP00000271331:p.Met1Ile		Q5VWD4|Q8TC69	Missense_Mutation	SNP	pfam_Prokineticin_domain	p.M1I	ENST00000271331.3	37	c.3	CCDS825.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889870	0.72524	.	.	ENSG00000143125	ENST00000271331	D	0.86562	-2.14	5.67	5.67	0.87782	Prokineticin domain (1);	0.254990	0.47093	D	0.000260	D	0.88314	0.6403	.	.	.	0.39198	D	0.963081	P	0.51791	0.948	P	0.51866	0.682	D	0.90021	0.4128	9	0.87932	D	0	-3.9705	15.2613	0.73625	0.0:0.0:1.0:0.0	.	1	P58294	PROK1_HUMAN	I	1	ENSP00000271331:M1I	ENSP00000271331:M1I	M	+	3	0	PROK1	110795364	1.000000	0.71417	0.914000	0.36105	0.724000	0.41520	5.697000	0.68295	2.646000	0.89796	0.655000	0.94253	ATG	PROK1	-	pfam_Prokineticin_domain		0.572	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROK1	HGNC	protein_coding	OTTHUMT00000031969.1	G	NM_032414	Missense_Mutation	110993841	+1	no_errors	ENST00000271331	ensembl	human	known	70_37	missense	SNP	0.990	A
PTPRA	5786	genome.wustl.edu	37	20	2945628	2945628	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:2945628C>T	ENST00000216877.6	+	5	595	c.195C>T	c.(193-195)ttC>ttT	p.F65F	PTPRA_ENST00000380393.3_Silent_p.F65F|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000425918.2_Silent_p.F76F|PTPRA_ENST00000399903.2_Silent_p.F65F|PTPRA_ENST00000356147.3_Silent_p.F65F|PTPRA_ENST00000318266.5_Silent_p.F65F	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	65					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CACCAACATTCAGCCCAAATA	0.413																																																	0													106.0	99.0	101.0					20																	2945628		2203	4300	6503	SO:0001819	synonymous_variant	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.195C>T	20.37:g.2945628C>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_a/e-type,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.F76	ENST00000216877.6	37	c.228	CCDS13039.1	20																																																																																			PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type		0.413	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	C			2945628	+1	no_errors	ENST00000425918	ensembl	human	known	70_37	silent	SNP	0.944	T
PTPRB	5787	genome.wustl.edu	37	12	70964988	70964988	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:70964988T>G	ENST00000261266.5	-	11	2563	c.2534A>C	c.(2533-2535)gAt>gCt	p.D845A	PTPRB_ENST00000551525.1_Missense_Mutation_p.D1062A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D845A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D975A|PTPRB_ENST00000334414.6_Missense_Mutation_p.D1063A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D755A|PTPRB_ENST00000550857.1_Missense_Mutation_p.D755A	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	845	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGGTCGACATCCCCATTAGC	0.443																																																	0													96.0	91.0	93.0					12																	70964988		1996	4174	6170	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2534A>C	12.37:g.70964988T>G	ENSP00000261266:p.Asp845Ala		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D1063A	ENST00000261266.5	37	c.3188	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989730	0.74589	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.64404	1.975	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;0.999;0.854;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;0.929;1.0;1.0;1.0	T	0.62651	-0.6809	10	0.07325	T	0.83	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	755;845;942;1062;1063;845;975	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	A	1063;755;975;845;755;845;1062;942	ENSP00000334928:D1063A;ENSP00000393028:D755A;ENSP00000448058:D975A;ENSP00000438927:D845A;ENSP00000447302:D755A;ENSP00000261266:D845A;ENSP00000448349:D1062A;ENSP00000446982:D942A	ENSP00000261266:D845A	D	-	2	0	PTPRB	69251255	1.000000	0.71417	0.931000	0.37212	0.717000	0.41224	7.665000	0.83852	2.251000	0.74343	0.528000	0.53228	GAT	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	T			70964988	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	0.999	G
PTPRH	5794	genome.wustl.edu	37	19	55705544	55705544	+	Intron	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:55705544C>G	ENST00000376350.3	-	10	2280				PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H						apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGGTGCTCTCAGGCTCTGAT	0.582																																																	0																																										SO:0001627	intron_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2257+2345G>C	19.37:g.55705544C>G			C9JCH2|Q15426|Q2NKN9|Q2NKP0	RNA	SNP	-	NULL	ENST00000376350.3	37	NULL	CCDS33110.1	19																																																																																			PTPRH	-	-		0.582	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	C			55705544	-1	no_errors	ENST00000588559	ensembl	human	known	70_37	rna	SNP	0.057	G
RACGAP1	29127	genome.wustl.edu	37	12	50410481	50410481	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:50410481C>T	ENST00000427314.2	-	4	241	c.18G>A	c.(16-18)ctG>ctA	p.L6L	RACGAP1_ENST00000551016.1_Silent_p.L6L|RACGAP1_ENST00000454520.2_Silent_p.L6L|RACGAP1_ENST00000312377.5_Silent_p.L6L|RACGAP1_ENST00000547905.1_Silent_p.L6L|RACGAP1_ENST00000434422.1_Silent_p.L6L	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCGCACATTCAGCATCATAG	0.458																																																	0													130.0	139.0	136.0					12																	50410481		2203	4300	6503	SO:0001819	synonymous_variant	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.18G>A	12.37:g.50410481C>T				Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L6	ENST00000427314.2	37	c.18	CCDS8795.1	12																																																																																			RACGAP1	-	NULL		0.458	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	C	NM_013277		50410481	-1	no_errors	ENST00000312377	ensembl	human	known	70_37	silent	SNP	1.000	T
RAI1	10743	genome.wustl.edu	37	17	17698750	17698750	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:17698750G>A	ENST00000353383.1	+	3	2957	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	830					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTGCCCCGAGGTGGCCAA	0.692																																																	0													21.0	27.0	25.0					17																	17698750		2199	4295	6494	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2488G>A	17.37:g.17698750G>A	ENSP00000323074:p.Glu830Lys		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.E830K	ENST00000353383.1	37	c.2488	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433669	0.43224	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69926	-0.44;2.3;0.16	5.37	4.4	0.53042	.	0.313591	0.30639	N	0.009191	T	0.57431	0.2053	L	0.57536	1.79	0.36301	D	0.857034	P	0.40681	0.727	B	0.27262	0.078	T	0.68500	-0.5392	10	0.51188	T	0.08	.	14.1992	0.65690	0.0727:0.0:0.9273:0.0	.	830	Q7Z5J4	RAI1_HUMAN	K	830;830;830;830;830;782	ENSP00000323074:E830K;ENSP00000379120:E830K;ENSP00000261641:E830K	ENSP00000261641:E830K	E	+	1	0	RAI1	17639475	1.000000	0.71417	0.879000	0.34478	0.385000	0.30292	6.910000	0.75741	1.265000	0.44215	0.561000	0.74099	GAG	RAI1	-	NULL		0.692	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	G	NM_030665		17698750	+1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	0.972	A
RAI1	10743	genome.wustl.edu	37	17	17698867	17698867	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:17698867G>C	ENST00000353383.1	+	3	3074	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	RAI1_ENST00000261641.6_Missense_Mutation_p.E869Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	869					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAAGCTGAGGAGGAGTACTC	0.662																																																	0													25.0	25.0	25.0					17																	17698867		2198	4294	6492	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2605G>C	17.37:g.17698867G>C	ENSP00000323074:p.Glu869Gln		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.E869Q	ENST00000353383.1	37	c.2605	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233579	0.79688	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.73897	-0.79;2.0;-0.25	5.16	5.16	0.70880	.	0.075700	0.53938	D	0.000041	D	0.84488	0.5483	L	0.60455	1.87	0.38106	D	0.937409	D	0.76494	0.999	D	0.80764	0.994	D	0.86988	0.2108	10	0.66056	D	0.02	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	869	Q7Z5J4	RAI1_HUMAN	Q	869;869;869;869;869;821	ENSP00000323074:E869Q;ENSP00000379120:E869Q;ENSP00000261641:E869Q	ENSP00000261641:E869Q	E	+	1	0	RAI1	17639592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.115000	0.57865	2.414000	0.81942	0.561000	0.74099	GAG	RAI1	-	NULL		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	G	NM_030665		17698867	+1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	1.000	C
REL	5966	genome.wustl.edu	37	2	61145397	61145397	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:61145397G>A	ENST00000295025.8	+	6	927	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	REL_ENST00000394479.3_Missense_Mutation_p.E203K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	203	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGGAGGAGATGAAATATTTCT	0.289			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													56.0	57.0	57.0					2																	61145397		2203	4299	6502	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.607G>A	2.37:g.61145397G>A	ENSP00000295025:p.Glu203Lys		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E203K	ENST00000295025.8	37	c.607	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.386809	0.95967	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	D;D	0.91521	-2.86;-2.86	5.41	5.41	0.78517	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96758	0.9559	10	0.87932	D	0	0.0313	19.1997	0.93707	0.0:0.0:1.0:0.0	.	203;203	Q17RU2;Q04864	.;REL_HUMAN	K	203	ENSP00000295025:E203K;ENSP00000377989:E203K	ENSP00000295025:E203K	E	+	1	0	REL	60998901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.520000	0.84964	0.650000	0.86243	GAA	REL	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor		0.289	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	G	NM_002908		61145397	+1	no_errors	ENST00000295025	ensembl	human	known	70_37	missense	SNP	1.000	A
REV3L	5980	genome.wustl.edu	37	6	111697429	111697429	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:111697429G>C	ENST00000358835.3	-	14	2583	c.2129C>G	c.(2128-2130)tCt>tGt	p.S710C	REV3L_ENST00000368805.1_Missense_Mutation_p.S710C|REV3L_ENST00000368802.3_Missense_Mutation_p.S710C|REV3L_ENST00000435970.1_Missense_Mutation_p.S632C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	710					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTTAAGTCAGAAAAGTTGAA	0.318								DNA polymerases (catalytic subunits)																																									0													58.0	63.0	62.0					6																	111697429		2203	4298	6501	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2129C>G	6.37:g.111697429G>C	ENSP00000351697:p.Ser710Cys		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S710C	ENST00000358835.3	37	c.2129	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045889	0.36085	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01705	4.77;4.77;4.77;4.68	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.560624	0.17326	N	0.178300	T	0.00967	0.0032	L	0.27053	0.805	0.27918	N	0.93838	P	0.50710	0.938	B	0.43360	0.417	T	0.52335	-0.8589	10	0.66056	D	0.02	-15.8659	12.7741	0.57437	0.0749:0.0:0.9251:0.0	.	710	O60673	DPOLZ_HUMAN	C	710;710;710;632	ENSP00000357792:S710C;ENSP00000357795:S710C;ENSP00000351697:S710C;ENSP00000402003:S632C	ENSP00000351697:S710C	S	-	2	0	REV3L	111804122	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.415000	0.66411	2.607000	0.88179	0.563000	0.77884	TCT	REV3L	-	superfamily_RNaseH-like_dom		0.318	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	G	NM_002912		111697429	-1	no_errors	ENST00000358835	ensembl	human	known	70_37	missense	SNP	1.000	C
RFX3	5991	genome.wustl.edu	37	9	3275593	3275593	+	Silent	SNP	T	T	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:3275593T>C	ENST00000382004.3	-	10	1304	c.993A>G	c.(991-993)ccA>ccG	p.P331P	RFX3_ENST00000358730.2_Silent_p.P331P|RFX3_ENST00000302303.1_Silent_p.P331P	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	331					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|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)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCCAAACTCTGGAAGTGCTC	0.413																																																	0													103.0	96.0	99.0					9																	3275593		2203	4300	6503	SO:0001819	synonymous_variant	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.993A>G	9.37:g.3275593T>C			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P331	ENST00000382004.3	37	c.993	CCDS6449.1	9																																																																																			RFX3	-	NULL		0.413	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	T	NM_002919		3275593	-1	no_errors	ENST00000382004	ensembl	human	known	70_37	silent	SNP	1.000	C
RGS14	10636	genome.wustl.edu	37	5	176794490	176794490	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:176794490G>A	ENST00000408923.3	+	6	747	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	187					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCTAGCCGAAGCCGAGGG	0.672																																					NSCLC(47;353 1896 28036)												0													21.0	23.0	22.0					5																	176794490		2004	4174	6178	SO:0001583	missense	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.559G>A	5.37:g.176794490G>A	ENSP00000386229:p.Glu187Lys		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E187K	ENST00000408923.3	37	c.559	CCDS43405.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.120955	0.94385	.	.	ENSG00000169220	ENST00000408923	T	0.01787	4.64	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	M	0.63843	1.955	0.46542	D	0.999099	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.69307	0.963;0.932;0.905	T	0.10132	-1.0643	10	0.48119	T	0.1	-27.7924	14.632	0.68663	0.0:0.1459:0.854:0.0	.	34;34;187	O43566-5;O43566-4;O43566	.;.;RGS14_HUMAN	K	187	ENSP00000386229:E187K	ENSP00000386229:E187K	E	+	1	0	RGS14	176727096	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.635000	0.54309	2.344000	0.79699	0.313000	0.20887	GAA	RGS14	-	NULL		0.672	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	G	NM_006480		176794490	+1	no_errors	ENST00000408923	ensembl	human	known	70_37	missense	SNP	0.998	A
RGS6	9628	genome.wustl.edu	37	14	72945011	72945011	+	Silent	SNP	T	T	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:72945011T>C	ENST00000553530.1	+	12	1035	c.828T>C	c.(826-828)tgT>tgC	p.C276C	RGS6_ENST00000434263.2_Silent_p.C207C|RGS6_ENST00000404301.2_Silent_p.C276C|RGS6_ENST00000407322.4_Silent_p.C276C|RGS6_ENST00000402788.2_Silent_p.C276C|RGS6_ENST00000355512.6_Silent_p.C276C|RGS6_ENST00000553525.1_Silent_p.C276C|RGS6_ENST00000343854.6_Silent_p.C276C|RGS6_ENST00000555571.1_Silent_p.C276C|RGS6_ENST00000406236.4_Silent_p.C276C|RGS6_ENST00000556437.1_Silent_p.C276C|RGS6_ENST00000554782.1_Silent_p.C137C	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	276	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACAGACATTGTTTGAAAATGT	0.333																																					Ovarian(143;1926 2468 21071 48641)												0													125.0	122.0	123.0					14																	72945011		2203	4299	6502	SO:0001819	synonymous_variant	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.828T>C	14.37:g.72945011T>C			C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.C276	ENST00000553530.1	37	c.828	CCDS9808.1	14																																																																																			RGS6	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom		0.333	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	T			72945011	+1	no_errors	ENST00000553525	ensembl	human	known	70_37	silent	SNP	1.000	C
RLIM	51132	genome.wustl.edu	37	X	73812025	73812025	+	Silent	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:73812025C>G	ENST00000332687.6	-	4	1343	c.1125G>C	c.(1123-1125)gtG>gtC	p.V375V	RLIM_ENST00000349225.2_Silent_p.V375V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	375					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATAGGTTCTCACACCTGCCC	0.438																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													122.0	109.0	113.0					X																	73812025		2203	4300	6503	SO:0001819	synonymous_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1125G>C	X.37:g.73812025C>G			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V375	ENST00000332687.6	37	c.1125	CCDS14427.1	X																																																																																			RLIM	-	NULL		0.438	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	C	NM_016120		73812025	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	silent	SNP	0.999	G
POLDIP3	84271	genome.wustl.edu	37	22	42977984	42977984	+	IGR	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr22:42977984G>T	ENST00000252115.5	-	0	3441				RRP7B_ENST00000357802.2_RNA	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3						poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCCGCGCCGCGAGCTTCGTCC	0.746																																					Ovarian(52;967 1128 5875 19997 42537)												0																																										SO:0001628	intergenic_variant	91695				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887		22.37:g.42977984G>T			A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	RNA	SNP	-	NULL	ENST00000252115.5	37	NULL	CCDS14038.1	22																																																																																			RRP7B	-	-		0.746	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7B	HGNC	protein_coding	OTTHUMT00000320433.1	G	NM_032311		42977984	-1	no_errors	ENST00000357802	ensembl	human	known	70_37	rna	SNP	0.004	T
RWDD3	25950	genome.wustl.edu	37	1	95712057	95712057	+	Intron	SNP	C	C	G	rs71588551|rs148395594	byFrequency	TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:95712057C>G	ENST00000370202.4	+	3	649				RP11-57H12.5_ENST00000444665.1_RNA|RP11-57H12.5_ENST00000598739.1_RNA|RWDD3_ENST00000495272.1_Intron|RWDD3_ENST00000263893.6_Intron	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3						negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CTTTGAGACTCAGAGTAAGAT	0.323																																																	0													37.0	34.0	35.0					1																	95712057		1789	4045	5834	SO:0001627	intron_variant	25950			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.574-41C>G	1.37:g.95712057C>G			A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	RNA	SNP	-	NULL	ENST00000370202.4	37	NULL	CCDS41357.1	1																																																																																			RWDD3	-	-		0.323	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD3	HGNC	protein_coding	OTTHUMT00000030078.1	C	NM_015485		95712057	+1	no_errors	ENST00000460571	ensembl	human	known	70_37	rna	SNP	0.010	G
RYR3	6263	genome.wustl.edu	37	15	34131094	34131094	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:34131094G>A	ENST00000389232.4	+	89	12983	c.12913G>A	c.(12913-12915)Gaa>Aaa	p.E4305K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4300K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4305					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGACCTCTCAGAAATTATTGG	0.443																																																	0													50.0	49.0	50.0					15																	34131094		1886	4103	5989	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12913G>A	15.37:g.34131094G>A	ENSP00000373884:p.Glu4305Lys		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E4305K	ENST00000389232.4	37	c.12913	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919073	0.73098	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94376	-3.41	4.42	4.42	0.53409	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	L	0.49126	1.545	0.51767	D	0.999936	B;B	0.32467	0.372;0.001	B;B	0.30855	0.121;0.012	D	0.90918	0.4781	10	0.52906	T	0.07	.	17.2107	0.86929	0.0:0.0:1.0:0.0	.	4300;4305	Q15413-2;Q15413	.;RYR3_HUMAN	K	4305;4301	ENSP00000373884:E4305K	ENSP00000354735:E4301K	E	+	1	0	RYR3	31918386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.202000	0.95026	2.298000	0.77334	0.655000	0.94253	GAA	RYR3	-	pfam_Ryanrecept_TM4-6,superfamily_ARM-type_fold		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34131094	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A
SALL3	27164	genome.wustl.edu	37	18	76754104	76754104	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr18:76754104C>T	ENST00000537592.2	+	2	2113	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	SALL3_ENST00000575389.2_Missense_Mutation_p.R705W|SALL3_ENST00000536229.3_Missense_Mutation_p.R572W	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	705					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGGGGGAGCGGCCGTTCAA	0.652																																																	0													33.0	32.0	32.0					18																	76754104		2203	4300	6503	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2113C>T	18.37:g.76754104C>T	ENSP00000441823:p.Arg705Trp		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R705W	ENST00000537592.2	37	c.2113	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	C	8.642	0.896133	0.17686	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.20332	2.08	5.33	-2.97	0.05530	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000036	T	0.51432	0.1674	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68777	-0.5319	10	0.87932	D	0	-42.2151	19.0443	0.93013	0.8442:0.1558:0.0:0.0	.	437;705	F5GXY4;Q9BXA9	.;SALL3_HUMAN	W	705;705;437	ENSP00000441823:R705W	ENSP00000299466:R705W	R	+	1	2	SALL3	74855092	1.000000	0.71417	0.909000	0.35828	0.514000	0.34195	1.284000	0.33249	-0.381000	0.07882	-0.182000	0.12963	CGG	SALL3	-	pfscan_Znf_C2H2		0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	C	NM_171999		76754104	+1	no_errors	ENST00000537592	ensembl	human	known	70_37	missense	SNP	0.996	T
C19orf67	646457	genome.wustl.edu	37	19	14199246	14199246	+	5'Flank	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:14199246C>T	ENST00000548523.1	-	0	0				C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.D428N	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						AAGAAGCCATCGGGGTCATCA	0.632																																																	0													80.0	85.0	83.0					19																	14199246		2027	4159	6186	SO:0001631	upstream_gene_variant	90378				CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199246C>T	Exception_encountered			Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D428N	ENST00000548523.1	37	c.1282	CCDS59360.1	19	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256892	0.59321	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T	0.49720	0.77	4.73	3.69	0.42338	.	0.361658	0.23424	N	0.048329	T	0.28067	0.0692	N	0.14661	0.345	0.28948	N	0.890598	B	0.26363	0.147	B	0.18561	0.022	T	0.21314	-1.0249	10	0.66056	D	0.02	-16.3588	8.5847	0.33651	0.0:0.8949:0.0:0.1051	.	428	E9PIW9	.	N	428;128	ENSP00000431971:D428N	ENSP00000269724:D128N	D	-	1	0	SAMD1	14060246	0.950000	0.32346	0.953000	0.39169	0.902000	0.53008	2.020000	0.41010	1.202000	0.43218	0.655000	0.94253	GAT	SAMD1	-	NULL		0.632	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000403368.1	C	XM_929382		14199246	-1	no_errors	ENST00000533683	ensembl	human	novel	70_37	missense	SNP	0.931	T
SCN8A	6334	genome.wustl.edu	37	12	52200842	52200842	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:52200842G>A	ENST00000354534.6	+	27	5750	c.5572G>A	c.(5572-5574)Gat>Aat	p.D1858N	AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.D1817N|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1858					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGTCCTGGGAGATAGCGGGGA	0.547																																																	0													96.0	104.0	101.0					12																	52200842		2116	4245	6361	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5572G>A	12.37:g.52200842G>A	ENSP00000346534:p.Asp1858Asn		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D1858N	ENST00000354534.6	37	c.5572	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100770	0.76983	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.95949	-3.86;-3.81	4.91	4.91	0.64330	.	0.042476	0.85682	D	0.000000	D	0.93874	0.8040	L	0.31752	0.955	0.80722	D	1	P	0.51351	0.944	P	0.48304	0.573	D	0.94768	0.7942	10	0.87932	D	0	.	18.6609	0.91471	0.0:0.0:1.0:0.0	.	1858	Q9UQD0	SCN8A_HUMAN	N	1858;1817	ENSP00000346534:D1858N;ENSP00000440360:D1817N	ENSP00000346534:D1858N	D	+	1	0	SCN8A	50487109	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	9.657000	0.98554	2.724000	0.93272	0.561000	0.74099	GAT	SCN8A	-	NULL		0.547	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52200842	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A
SEC23A	10484	genome.wustl.edu	37	14	39561767	39561767	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:39561767G>C	ENST00000307712.6	-	4	861	c.344C>G	c.(343-345)tCt>tGt	p.S115C	SEC23A_ENST00000536508.1_5'UTR|SEC23A_ENST00000545328.2_Intron	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	115					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTCAATGCTAGAAAACTGAGG	0.269																																																	0													30.0	29.0	29.0					14																	39561767		2202	4288	6490	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.344C>G	14.37:g.39561767G>C	ENSP00000306881:p.Ser115Cys		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.S115C	ENST00000307712.6	37	c.344	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087761	0.76642	.	.	ENSG00000100934	ENST00000307712;ENST00000555017;ENST00000556092	D;D;D	0.84070	-1.8;-1.8;-1.8	5.46	5.46	0.80206	Zinc finger, Sec23/Sec24-type (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.80028	2.48	0.80722	D	1	D	0.67145	0.996	P	0.57776	0.827	D	0.91086	0.4903	10	0.62326	D	0.03	-22.86	19.3005	0.94143	0.0:0.0:1.0:0.0	.	115	Q15436	SC23A_HUMAN	C	115	ENSP00000306881:S115C;ENSP00000450819:S115C;ENSP00000451230:S115C	ENSP00000306881:S115C	S	-	2	0	SEC23A	38631518	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	9.855000	0.99526	2.567000	0.86603	0.557000	0.71058	TCT	SEC23A	-	superfamily_Znf_Sec23_Sec24		0.269	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	G			39561767	-1	no_errors	ENST00000307712	ensembl	human	known	70_37	missense	SNP	1.000	C
SERINC2	347735	genome.wustl.edu	37	1	31907413	31907413	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:31907413G>A	ENST00000373709.3	+	0	1885				SERINC2_ENST00000373710.1_3'UTR|SERINC2_ENST00000536384.1_3'UTR|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2						phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		ATCCGGCACTGAAGCCCTGGT	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.*367G>A	1.37:g.31907413G>A			A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	RNA	SNP	-	NULL	ENST00000373709.3	37	NULL	CCDS30662.1	1																																																																																			SERINC2	-	-		0.597	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	G	NM_018565		31907413	+1	no_errors	ENST00000491976	ensembl	human	known	70_37	rna	SNP	0.011	A
SERPINA1	5265	genome.wustl.edu	37	14	94849131	94849131	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:94849131C>T	ENST00000448921.1	-	4	1016	c.444G>A	c.(442-444)ctG>ctA	p.L148L	SERPINA1_ENST00000355814.4_Silent_p.L148L|SERPINA1_ENST00000440909.1_Silent_p.L148L|SERPINA1_ENST00000437397.1_Silent_p.L148L|SERPINA1_ENST00000402629.1_Silent_p.L148L|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000404814.4_Silent_p.L148L|SERPINA1_ENST00000393087.4_Silent_p.L148L|SERPINA1_ENST00000449399.3_Silent_p.L148L|SERPINA1_ENST00000393088.4_Silent_p.L148L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	148					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCACTAGCTTCAGGCCCTCGC	0.527																																																	0													77.0	75.0	76.0					14																	94849131		2203	4300	6503	SO:0001819	synonymous_variant	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.444G>A	14.37:g.94849131C>T			A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L148	ENST00000448921.1	37	c.444	CCDS9925.1	14																																																																																			SERPINA1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.527	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	C	NM_001002235		94849131	-1	no_errors	ENST00000355814	ensembl	human	known	70_37	silent	SNP	0.019	T
SETDB1	9869	genome.wustl.edu	37	1	150936781	150936781	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:150936781G>C	ENST00000271640.5	+	22	4007	c.3817G>C	c.(3817-3819)Gaa>Caa	p.E1273Q	CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1272Q|CERS2_ENST00000561294.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1273					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGCAGTGTGGAAGGCAAGGA	0.512																																																	0													180.0	137.0	152.0					1																	150936781		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3817G>C	1.37:g.150936781G>C	ENSP00000271640:p.Glu1273Gln		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E1273Q	ENST00000271640.5	37	c.3817	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541107	0.45280	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.88509	-2.39;-2.38	4.81	4.81	0.61882	.	0.102782	0.64402	D	0.000004	T	0.79094	0.4388	L	0.28556	0.865	0.80722	D	1	P;B	0.36378	0.55;0.141	B;B	0.37601	0.254;0.047	T	0.80195	-0.1483	10	0.35671	T	0.21	.	17.6713	0.88218	0.0:0.0:1.0:0.0	.	1272;1273	Q15047-3;Q15047	.;SETB1_HUMAN	Q	1273;1272	ENSP00000271640:E1273Q;ENSP00000357965:E1272Q	ENSP00000271640:E1273Q	E	+	1	0	SETDB1	149203405	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.209000	0.72171	2.493000	0.84123	0.462000	0.41574	GAA	SETDB1	-	NULL		0.512	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	G			150936781	+1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	1.000	C
SF1	7536	genome.wustl.edu	37	11	64535724	64535724	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:64535724G>A	ENST00000377390.3	-	9	1259	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	SF1_ENST00000227503.9_Missense_Mutation_p.R308W|SF1_ENST00000334944.5_Missense_Mutation_p.R308W|SF1_ENST00000422298.2_Missense_Mutation_p.R193W|SF1_ENST00000377394.3_Missense_Mutation_p.R308W|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.R433W|SF1_ENST00000433274.2_Missense_Mutation_p.R282W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	308					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTATCCATCCGTGCTTTATCC	0.532											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													92.0	78.0	83.0					11																	64535724		2201	4297	6498	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.922C>T	11.37:g.64535724G>A	ENSP00000366607:p.Arg308Trp	1077	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.R308W	ENST00000377390.3	37	c.922	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166608	0.78339	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274;ENST00000486867	T;T;T;T;T;T;T;T	0.50001	0.77;0.77;0.78;0.82;0.76;0.78;0.76;0.76	5.41	4.48	0.54585	.	0.223472	0.38381	N	0.001706	T	0.58977	0.2160	L	0.47716	1.5	0.53688	D	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;P;D;D	0.70016	0.841;0.944;0.951;0.895;0.951;0.967	T	0.60722	-0.7207	10	0.66056	D	0.02	.	11.0835	0.48074	0.0:0.0:0.6634:0.3365	.	193;308;308;308;308;433	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	W	433;308;308;308;308;193;282;29	ENSP00000366604:R433W;ENSP00000366607:R308W;ENSP00000227503:R308W;ENSP00000366611:R308W;ENSP00000334414:R308W;ENSP00000413084:R193W;ENSP00000396793:R282W;ENSP00000419062:R29W	ENSP00000227503:R308W	R	-	1	2	SF1	64292300	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	7.084000	0.76866	1.244000	0.43870	0.561000	0.74099	CGG	SF1	-	NULL		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	G	NM_004630		64535724	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	missense	SNP	0.990	A
SKIDA1	387640	genome.wustl.edu	37	10	21805509	21805509	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:21805509C>T	ENST00000449193.2	-	4	3495	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Missense_Mutation_p.E336K	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	334						nucleus (GO:0005634)											ccctcctcctcctcttcctcT	0.622																																																	0													5.0	6.0	6.0					10																	21805509		1939	3999	5938	SO:0001583	missense	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1243G>A	10.37:g.21805509C>T	ENSP00000410041:p.Glu415Lys		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.E415K	ENST00000449193.2	37	c.1243	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019133	0.54576	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	4.85	4.85	0.62838	.	0.198914	0.29783	U	0.011217	T	0.53286	0.1787	L	0.32530	0.975	0.50039	D	0.999841	P	0.39665	0.682	B	0.42798	0.398	T	0.57118	-0.7866	9	0.49607	T	0.09	-23.991	16.7211	0.85410	0.0:1.0:0.0:0.0	.	415	E9PAX1	.	K	415;336	.	ENSP00000442432:E336K	E	-	1	0	C10orf140	21845515	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.148000	0.64857	2.253000	0.74438	0.555000	0.69702	GAG	SKIDA1	-	NULL		0.622	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	C	NM_207371		21805509	-1	no_errors	ENST00000449193	ensembl	human	known	70_37	missense	SNP	1.000	T
SKOR1	390598	genome.wustl.edu	37	15	68120303	68120303	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:68120303G>A	ENST00000380035.2	+	2	2195	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	SKOR1_ENST00000554240.1_Missense_Mutation_p.D674N|SKOR1_ENST00000389002.1_Missense_Mutation_p.D669N|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554054.1_Missense_Mutation_p.D685N			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	713					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AAACTCTCCCGAcggcggcag	0.751																																																	0													4.0	6.0	5.0					15																	68120303		1906	3790	5696	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2137G>A	15.37:g.68120303G>A	ENSP00000369374:p.Asp713Asn		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.D713N	ENST00000380035.2	37	c.2137		15	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710863	0.68730	.	.	ENSG00000188779	ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.04	5.04	0.67666	.	0.554122	0.17644	N	0.166902	T	0.08802	0.0218	N	0.14661	0.345	0.31019	N	0.71833	P	0.34546	0.456	B	0.27608	0.081	T	0.10451	-1.0629	10	0.21540	T	0.41	-3.1633	10.5917	0.45314	0.0887:0.0:0.9113:0.0	.	669	P84550-3	.	N	674;685;713;669	ENSP00000451193:D674N;ENSP00000452361:D685N;ENSP00000369374:D713N;ENSP00000373654:D669N	ENSP00000369374:D713N	D	+	1	0	SKOR1	65907357	0.318000	0.24598	0.630000	0.29268	0.941000	0.58515	2.914000	0.48797	2.350000	0.79820	0.655000	0.94253	GAC	SKOR1	-	NULL		0.751	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	G	NM_001031807		68120303	+1	no_errors	ENST00000380035	ensembl	human	known	70_37	missense	SNP	0.933	A
SLC12A7	10723	genome.wustl.edu	37	5	1081831	1081831	+	Silent	SNP	C	C	T	rs370417695		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:1081831C>T	ENST00000264930.5	-	9	1201	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	386					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAAACGCCCCCGCGTGCGCGT	0.662																																																	0								C		0,4402		0,0,2201	72.0	70.0	70.0		1158	0.6	0.0	5		70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLC12A7	NM_006598.2		0,3,6498	TT,TC,CC		0.0349,0.0,0.0231		386/1084	1081831	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1158G>A	5.37:g.1081831C>T			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A386	ENST00000264930.5	37	c.1158	CCDS34129.1	5																																																																																			SLC12A7	-	tigrfam_Na/K/Cl_cotransptS		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	C	NM_006598		1081831	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	silent	SNP	0.010	T
SLC2A1	6513	genome.wustl.edu	37	1	43392500	43392500	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:43392500G>A	ENST00000426263.3	-	0	1869				SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTGCTTGTCTGAATAGATTTG	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.*212C>T	1.37:g.43392500G>A			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	RNA	SNP	-	NULL	ENST00000426263.3	37	NULL	CCDS477.1	1																																																																																			SLC2A1	-	-		0.408	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	G	NM_006516		43392500	-1	no_errors	ENST00000475162	ensembl	human	known	70_37	rna	SNP	0.668	A
SLC2A1	6513	genome.wustl.edu	37	1	43392510	43392510	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:43392510G>A	ENST00000426263.3	-	0	1859				SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GAATAGATTTGAGCAACAGTC	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.*202C>T	1.37:g.43392510G>A			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	RNA	SNP	-	NULL	ENST00000426263.3	37	NULL	CCDS477.1	1																																																																																			SLC2A1	-	-		0.423	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	G	NM_006516		43392510	-1	no_errors	ENST00000475162	ensembl	human	known	70_37	rna	SNP	0.078	A
SLC44A4	80736	genome.wustl.edu	37	6	31832357	31832357	+	Intron	DEL	A	A	-			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:31832357delA	ENST00000229729.6	-	20	2032				SLC44A4_ENST00000544672.1_Intron|SLC44A4_ENST00000375562.4_Intron|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4						acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAAATCTCCAAAAAAAAAAA	0.488																																																	0																																										SO:0001627	intron_variant	80736			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2011+71T>-	6.37:g.31832357delA			A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	RNA	DEL	-	NULL	ENST00000229729.6	37	NULL	CCDS4724.2	6																																																																																			SLC44A4	-	-		0.488	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	A			31832357	-1	no_errors	ENST00000487680	ensembl	human	putative	70_37	rna	DEL	0.055	-
SLITRK3	22865	genome.wustl.edu	37	3	164906461	164906461	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:164906461C>A	ENST00000475390.1	-	2	2601	c.2158G>T	c.(2158-2160)Ggg>Tgg	p.G720W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G720W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	720	Poly-Gly.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ccaccacccccacttccgcca	0.572										HNSCC(40;0.11)																																							0													84.0	60.0	68.0					3																	164906461		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2158G>T	3.37:g.164906461C>A	ENSP00000420091:p.Gly720Trp		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G720W	ENST00000475390.1	37	c.2158	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293803	0.40594	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53857	0.6;0.6	4.89	4.89	0.63831	.	0.000000	0.33075	U	0.005304	T	0.46870	0.1415	N	0.08118	0	0.25715	N	0.98544	D	0.63046	0.992	P	0.57204	0.815	T	0.45396	-0.9264	10	0.54805	T	0.06	-2.6428	13.7412	0.62849	0.0:1.0:0.0:0.0	.	720	O94933	SLIK3_HUMAN	W	720	ENSP00000420091:G720W;ENSP00000241274:G720W	ENSP00000241274:G720W	G	-	1	0	SLITRK3	166389155	0.911000	0.30947	0.153000	0.22517	0.011000	0.07611	0.878000	0.28126	2.689000	0.91719	0.655000	0.94253	GGG	SLITRK3	-	NULL		0.572	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	C	NM_014926		164906461	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	missense	SNP	0.411	A
SMAP2	64744	genome.wustl.edu	37	1	40879805	40879805	+	3'UTR	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:40879805C>T	ENST00000487871.1	+	0	157				SMAP2_ENST00000539317.1_Intron			Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CTGCTTATTTCTTGCTATAAC	0.443																																																	0													50.0	52.0	52.0					1																	40879805		2203	4300	6503	SO:0001624	3_prime_UTR_variant	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000487871.1:c.*154C>T	1.37:g.40879805C>T			B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	RNA	SNP	-	NULL	ENST00000487871.1	37	NULL		1																																																																																			SMAP2	-	-		0.443	SMAP2-004	KNOWN	mRNA_end_NF|basic	processed_transcript	SMAP2	HGNC	protein_coding	OTTHUMT00000019077.1	C	NM_022733		40879805	+1	no_errors	ENST00000487871	ensembl	human	known	70_37	rna	SNP	0.123	T
SMTN	6525	genome.wustl.edu	37	22	31484503	31484503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr22:31484503C>T	ENST00000347557.2	+	4	423	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	SMTN_ENST00000358743.1_Nonsense_Mutation_p.Q69*|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000333137.7_Nonsense_Mutation_p.Q69*	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	69					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTGCAGCTCTCAGCAGCGGGA	0.602																																																	0													69.0	73.0	71.0					22																	31484503		2203	4300	6503	SO:0001587	stop_gained	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.205C>T	22.37:g.31484503C>T	ENSP00000328635:p.Gln69*		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Nonsense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Q69*	ENST00000347557.2	37	c.205	CCDS13886.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.66|18.66	3.672117|3.672117	0.67928|0.67928	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	.|T	.|0.51325	.|0.71	4.79|4.79	-0.255|-0.255	0.12988|0.12988	.|.	0.709587|.	0.11626|.	N|.	0.545310|.	.|T	.|0.55878	.|0.1948	.|.	.|.	.|.	0.37089|0.37089	D|D	0.899351|0.899351	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63726	.|-0.6572	.|6	0.40728|0.87932	T|D	0.16|0	-4.4586|-4.4586	11.2818|11.2818	0.49199|0.49199	0.2177:0.3355:0.4468:0.0|0.2177:0.3355:0.4468:0.0	.|.	.|.	.|.	.|.	X|L	123;123;69;69;69;69;61;61|123	.|ENSP00000409925:S123L	ENSP00000329393:Q69X|ENSP00000409925:S123L	Q|S	+|+	1|2	0|0	SMTN|SMTN	29814503|29814503	0.177000|0.177000	0.23109|0.23109	0.761000|0.761000	0.31378|0.31378	0.930000|0.930000	0.56654|0.56654	0.395000|0.395000	0.20850|0.20850	-0.111000|-0.111000	0.12001|0.12001	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SMTN	-	pfam_Smoothelin		0.602	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	C	NM_134270		31484503	+1	no_errors	ENST00000347557	ensembl	human	known	70_37	nonsense	SNP	0.605	T
MIEF1	54471	genome.wustl.edu	37	22	39910184	39910184	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr22:39910184C>G	ENST00000325301.2	+	6	1672	c.1248C>G	c.(1246-1248)atC>atG	p.I416M	MIEF1_ENST00000402881.1_Missense_Mutation_p.I416M|MIEF1_ENST00000404569.1_Missense_Mutation_p.I416M	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	416					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GGGGACTTATCAGCTACTTAG	0.542											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96.0	96.0	96.0					22																	39910184		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1248C>G	22.37:g.39910184C>G	ENSP00000327124:p.Ile416Met	889	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.I416M	ENST00000325301.2	37	c.1248	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467428	0.63625	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.07908	3.15;3.15;3.15	6.07	2.44	0.29823	.	0.048019	0.85682	D	0.000000	T	0.12518	0.0304	L	0.29908	0.895	0.40105	D	0.976417	P;D	0.64830	0.918;0.994	P;P	0.60541	0.714;0.876	T	0.05649	-1.0872	10	0.48119	T	0.1	-23.5704	8.0692	0.30678	0.0:0.6675:0.119:0.2135	.	416;416	Q9NQG6;B0QY95	MID51_HUMAN;.	M	416	ENSP00000385110:I416M;ENSP00000327124:I416M;ENSP00000385191:I416M	ENSP00000327124:I416M	I	+	3	3	SMCR7L	38240130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.770000	0.38532	0.894000	0.36317	0.655000	0.94253	ATC	SMCR7L	-	NULL		0.542	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	C	NM_019008		39910184	+1	no_errors	ENST00000325301	ensembl	human	known	70_37	missense	SNP	1.000	G
SNCG	6623	genome.wustl.edu	37	10	88722612	88722612	+	Intron	SNP	G	G	A	rs535472487		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:88722612G>A	ENST00000372017.3	+	5	405				ADIRF-AS1_ENST00000440490.1_RNA|SNCG_ENST00000483064.1_Intron|ADIRF-AS1_ENST00000609111.1_RNA|SNCG_ENST00000348795.4_Intron|ADIRF-AS1_ENST00000418273.2_RNA	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)						adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						GTCCCCCCACGGATGACCCCT	0.632													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18118	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	6623			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.364-110G>A	10.37:g.88722612G>A			O15104|Q96P61	RNA	SNP	-	NULL	ENST00000372017.3	37	NULL	CCDS7380.1	10																																																																																			SNCG	-	-		0.632	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	G			88722612	+1	no_errors	ENST00000465679	ensembl	human	known	70_37	rna	SNP	0.000	A
SOGA3	387104	genome.wustl.edu	37	6	127836178	127836178	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:127836178C>G	ENST00000525778.1	-	3	1861	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	SOGA3_ENST00000481848.2_Missense_Mutation_p.E372D|SOGA3_ENST00000465909.2_Missense_Mutation_p.E372D|SOGA3_ENST00000556132.1_Missense_Mutation_p.E372D|SOGA3_ENST00000368268.2_Missense_Mutation_p.E372D			Q5TF21	SOGA3_HUMAN	SOGA family member 3	372					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGGTTCTCAGCTCATCGATCT	0.532																																																	0													140.0	141.0	141.0					6																	127836178		2112	4226	6338	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1116G>C	6.37:g.127836178C>G	ENSP00000434570:p.Glu372Asp			Missense_Mutation	SNP	pfam_DUF3166	p.E372D	ENST00000525778.1	37	c.1116	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656775	0.67586	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.65	2.49	0.30216	.	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	L	0.50333	1.59	0.43913	D	0.996556	D	0.76494	0.999	D	0.66196	0.942	T	0.02958	-1.1089	10	0.40728	T	0.16	-11.8009	13.6319	0.62200	0.0:0.8268:0.0:0.1732	.	372	Q5TF21	CF174_HUMAN	D	372	ENSP00000451768:E372D;ENSP00000357251:E372D;ENSP00000434570:E372D;ENSP00000435559:E372D	ENSP00000435559:E372D	E	-	3	2	C6orf174	127877871	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.119000	0.41958	0.759000	0.33084	0.557000	0.71058	GAG	SOGA3	-	NULL		0.532	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127836178	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	missense	SNP	1.000	G
SP2	6668	genome.wustl.edu	37	17	45994157	45994157	+	Silent	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:45994157G>T	ENST00000376741.4	+	3	857	c.720G>T	c.(718-720)ctG>ctT	p.L240L	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	240					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CAACCCCGCTGTCTAAGACTA	0.607																																																	0													85.0	91.0	89.0					17																	45994157		2203	4300	6503	SO:0001819	synonymous_variant	6668				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.720G>T	17.37:g.45994157G>T			A6NK74	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L240	ENST00000376741.4	37	c.720	CCDS11521.2	17																																																																																			SP2	-	NULL		0.607	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	G	NM_003110		45994157	+1	no_errors	ENST00000376741	ensembl	human	known	70_37	silent	SNP	1.000	T
SPATA9	83890	genome.wustl.edu	37	5	95018273	95018273	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:95018273C>G	ENST00000274432.8	-	2	250	c.109G>C	c.(109-111)Gat>Cat	p.D37H	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.D37H	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	37					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGAAATTCATCTTTAAACTCA	0.318																																																	0													100.0	103.0	102.0					5																	95018273		2203	4300	6503	SO:0001583	missense	83890			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.109G>C	5.37:g.95018273C>G	ENSP00000274432:p.Asp37His		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.D37H	ENST00000274432.8	37	c.109	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390369	0.62066	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.60920	0.15	4.7	4.7	0.59300	.	0.000000	0.47852	D	0.000204	T	0.63640	0.2528	L	0.27053	0.805	0.37487	D	0.916216	D	0.89917	1.0	D	0.91635	0.999	T	0.70554	-0.4840	10	0.87932	D	0	-23.7644	13.0112	0.58731	0.0:1.0:0.0:0.0	.	37	Q9BWV2	SPAT9_HUMAN	H	37	ENSP00000274432:D37H	ENSP00000274432:D37H	D	-	1	0	SPATA9	95044029	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.366000	0.44204	2.429000	0.82318	0.563000	0.77884	GAT	SPATA9	-	NULL		0.318	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	C	NM_031952		95018273	-1	no_errors	ENST00000274432	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152782776	152782776	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:152782776C>G	ENST00000367255.5	-	21	2951	c.2350G>C	c.(2350-2352)Gaa>Caa	p.E784Q	SYNE1_ENST00000495090.2_Missense_Mutation_p.E351Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E791Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.E784Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E791Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E784Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E791Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.E784Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.E774Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	784					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)		GCAAACATTTCTTTTCCTTCT	0.438										HNSCC(10;0.0054)																																							0													228.0	179.0	196.0					6																	152782776		2203	4300	6503	SO:0001583	missense	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.2350G>C	6.37:g.152782776C>G	ENSP00000356224:p.Glu784Gln		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	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.E784Q	ENST00000367255.5	37	c.2350	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794205	0.31777	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;D;D;D;T	0.87729	0.71;0.71;0.62;0.71;0.74;-2.15;-2.29;-2.28;2.24	6.07	5.17	0.71159	.	0.092353	0.46758	D	0.000267	T	0.75852	0.3906	L	0.47716	1.5	0.80722	D	1	P;B;B;B;B;B;B	0.37015	0.578;0.013;0.026;0.121;0.112;0.013;0.056	B;B;B;B;B;B;B	0.37047	0.24;0.013;0.046;0.043;0.036;0.013;0.029	T	0.75684	-0.3232	10	0.28530	T	0.3	.	13.932	0.64001	0.0:0.9237:0.0:0.0763	.	767;784;351;774;784;784;791	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	Q	784;791;784;791;791;784;774;784;351	ENSP00000356224:E784Q;ENSP00000396024:E791Q;ENSP00000265368:E784Q;ENSP00000390975:E791Q;ENSP00000341887:E791Q;ENSP00000356222:E784Q;ENSP00000356217:E774Q;ENSP00000414510:E784Q;ENSP00000438508:E351Q	ENSP00000265368:E784Q	E	-	1	0	SYNE1	152824469	1.000000	0.71417	0.704000	0.30370	0.730000	0.41778	3.814000	0.55643	1.499000	0.48617	0.650000	0.86243	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152782776	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.974	G
TAF2	6873	genome.wustl.edu	37	8	120831654	120831654	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr8:120831654G>C	ENST00000378164.2	-	3	529	c.231C>G	c.(229-231)atC>atG	p.I77M		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	77					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAAATCATTGATCCTTACTC	0.343																																																	0													162.0	169.0	167.0					8																	120831654		2202	4299	6501	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.231C>G	8.37:g.120831654G>C	ENSP00000367406:p.Ile77Met		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.I77M	ENST00000378164.2	37	c.231	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842413	0.51057	.	.	ENSG00000064313	ENST00000378164	T	0.04862	3.54	5.82	5.82	0.92795	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.178715	0.48286	D	0.000187	T	0.09291	0.0229	L	0.43923	1.385	0.40557	D	0.981179	B	0.29432	0.244	B	0.32805	0.153	T	0.06356	-1.0831	10	0.72032	D	0.01	-17.8956	15.5827	0.76459	0.0:0.137:0.863:0.0	.	77	Q6P1X5	TAF2_HUMAN	M	77	ENSP00000367406:I77M	ENSP00000367406:I77M	I	-	3	3	TAF2	120900835	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.750000	0.38329	2.765000	0.95021	0.650000	0.86243	ATC	TAF2	-	pfam_Peptidase_M1_N		0.343	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	G	NM_003184		120831654	-1	no_errors	ENST00000378164	ensembl	human	known	70_37	missense	SNP	1.000	C
TANK	10010	genome.wustl.edu	37	2	162061215	162061215	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:162061215G>C	ENST00000392749.2	+	4	477	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	TANK_ENST00000405852.1_Missense_Mutation_p.E80Q|TANK_ENST00000259075.2_Missense_Mutation_p.E80Q|TANK_ENST00000403609.1_Missense_Mutation_p.E80Q|TANK_ENST00000402568.1_Missense_Mutation_p.E139Q|TANK_ENST00000457476.1_Missense_Mutation_p.E80Q|TANK_ENST00000406287.1_Missense_Mutation_p.E138Q	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	80					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCCTCTGCTTGAAGACAGTGA	0.363																																																	0													73.0	77.0	76.0					2																	162061215		2203	4300	6503	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.238G>C	2.37:g.162061215G>C	ENSP00000376505:p.Glu80Gln		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.E80Q	ENST00000392749.2	37	c.238	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389660	0.82902	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T	0.35048	1.77;1.77;1.33	5.41	5.41	0.78517	.	0.361797	0.28952	N	0.013617	T	0.43366	0.1244	L	0.32530	0.975	0.39910	D	0.974018	D;D	0.54964	0.964;0.969	P;P	0.54629	0.71;0.757	T	0.32745	-0.9895	10	0.51188	T	0.08	-11.0438	16.4783	0.84144	0.0:0.0:1.0:0.0	.	80;80	Q92844;Q7Z4J6	TANK_HUMAN;.	Q	80;81;80;80;80;81;138;139;80;106;80	ENSP00000259075:E80Q;ENSP00000376505:E80Q;ENSP00000385487:E80Q	ENSP00000259075:E80Q	E	+	1	0	TANK	161769461	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.601000	0.67606	2.680000	0.91292	0.557000	0.71058	GAA	TANK	-	NULL		0.363	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	G	NM_133484		162061215	+1	no_errors	ENST00000259075	ensembl	human	known	70_37	missense	SNP	1.000	C
TAS2R7	50837	genome.wustl.edu	37	12	10954406	10954406	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:10954406G>T	ENST00000240687.2	-	1	820	c.764C>A	c.(763-765)aCc>aAc	p.T255N		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	255					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)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTAGCTGGAGGTGGCAATGAG	0.458																																																	0													90.0	94.0	93.0					12																	10954406		2203	4300	6503	SO:0001583	missense	50837			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.764C>A	12.37:g.10954406G>T	ENSP00000240687:p.Thr255Asn		Q645Y1	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.T255N	ENST00000240687.2	37	c.764	CCDS8631.1	12	.	.	.	.	.	.	.	.	.	.	G	5.292	0.239202	0.10023	.	.	ENSG00000121377	ENST00000240687	T	0.00808	5.67	5.23	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	N	0.001222	T	0.01254	0.0041	L	0.41415	1.275	0.09310	N	1	B	0.24043	0.096	B	0.33960	0.173	T	0.42224	-0.9464	10	0.56958	D	0.05	.	7.4001	0.26958	0.2643:0.0:0.7357:0.0	.	255	Q9NYW3	TA2R7_HUMAN	N	255	ENSP00000240687:T255N	ENSP00000240687:T255N	T	-	2	0	TAS2R7	10845673	0.565000	0.26610	0.982000	0.44146	0.001000	0.01503	1.371000	0.34250	1.429000	0.47314	-0.145000	0.13849	ACC	TAS2R7	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	G			10954406	-1	no_errors	ENST00000240687	ensembl	human	known	70_37	missense	SNP	0.133	T
TENM1	10178	genome.wustl.edu	37	X	123514396	123514396	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:123514396C>G	ENST00000371130.3	-	31	8231	c.8168G>C	c.(8167-8169)gGc>gCc	p.G2723A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.G2730A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2723					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTACCTCCTGCCTATTTCGCT	0.358																																																	0													90.0	84.0	86.0					X																	123514396		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8168G>C	X.37:g.123514396C>G	ENSP00000360171:p.Gly2723Ala		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.G2730A	ENST00000371130.3	37	c.8189	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752757	0.69648	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86956	-2.19;-2.15	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93520	0.7932	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.93885	0.7174	10	0.72032	D	0.01	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	2729;2730;2723	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	2723;2730	ENSP00000360171:G2723A;ENSP00000403954:G2730A	ENSP00000360171:G2723A	G	-	2	0	ODZ1	123342077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.414000	0.81942	0.538000	0.68166	GGC	TENM1	-	NULL		0.358	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123514396	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	G
TENM1	10178	genome.wustl.edu	37	X	123556368	123556368	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:123556368G>A	ENST00000371130.3	-	23	4267	c.4204C>T	c.(4204-4206)Cgc>Tgc	p.R1402C	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.R1409C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1402					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGAATGGGGCGTCCTGCGATG	0.493																																																	0													122.0	99.0	107.0					X																	123556368		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4204C>T	X.37:g.123556368G>A	ENSP00000360171:p.Arg1402Cys		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.R1409C	ENST00000371130.3	37	c.4225	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384132	0.82792	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90444	-2.67;-2.67	5.68	3.85	0.44370	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94036	0.8089	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.79784	0.993;0.897;0.949	D	0.93863	0.7155	10	0.87932	D	0	.	10.2806	0.43537	0.0724:0.0:0.7931:0.1345	.	1408;1409;1402	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	1402;1409	ENSP00000360171:R1402C;ENSP00000403954:R1409C	ENSP00000360171:R1402C	R	-	1	0	ODZ1	123384049	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.494000	0.73661	1.168000	0.42723	0.594000	0.82650	CGC	TENM1	-	NULL		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123556368	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	A
TEX15	56154	genome.wustl.edu	37	8	30700365	30700365	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr8:30700365C>T	ENST00000256246.2	-	1	6243	c.6169G>A	c.(6169-6171)Gaa>Aaa	p.E2057K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2057					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCAATAGCTTCAGGCTTTAAA	0.333																																																	0													33.0	35.0	34.0					8																	30700365		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6169G>A	8.37:g.30700365C>T	ENSP00000256246:p.Glu2057Lys			Missense_Mutation	SNP	NULL	p.E2057K	ENST00000256246.2	37	c.6169	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117384	0.37339	.	.	ENSG00000133863	ENST00000256246	T	0.14022	2.54	5.33	5.33	0.75918	.	0.591298	0.15827	N	0.242717	T	0.22166	0.0534	N	0.24115	0.695	0.37082	D	0.899022	D	0.57257	0.979	P	0.56563	0.801	T	0.08371	-1.0725	10	0.87932	D	0	.	18.1452	0.89652	0.0:1.0:0.0:0.0	.	2057	Q9BXT5	TEX15_HUMAN	K	2057	ENSP00000256246:E2057K	ENSP00000256246:E2057K	E	-	1	0	TEX15	30819907	1.000000	0.71417	0.960000	0.40013	0.359000	0.29487	3.370000	0.52372	2.661000	0.90470	0.585000	0.79938	GAA	TEX15	-	NULL		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700365	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	T
TGFBR2	7048	genome.wustl.edu	37	3	30729968	30729968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr3:30729968C>T	ENST00000295754.5	+	6	1871	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.R522*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R497*(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGATCGAGGGCGACCAGAAAT	0.488																																																	3	Substitution - Nonsense(3)	large_intestine(2)|stomach(1)	GRCh37	CM063204	TGFBR2	M							107.0	101.0	103.0					3																	30729968		2203	4300	6503	SO:0001587	stop_gained	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1489C>T	3.37:g.30729968C>T	ENSP00000295754:p.Arg497*		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,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_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.R522*	ENST00000295754.5	37	c.1564	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	41	9.125984	0.99073	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3507	0.66699	0.1482:0.8518:0.0:0.0	.	.	.	.	X	497;522;327	.	ENSP00000295754:R497X	R	+	1	2	TGFBR2	30704972	0.993000	0.37304	0.962000	0.40283	0.972000	0.66771	3.116000	0.50399	2.682000	0.91365	0.591000	0.81541	CGA	TGFBR2	-	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_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom		0.488	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	C			30729968	+1	no_errors	ENST00000359013	ensembl	human	known	70_37	nonsense	SNP	0.992	T
TMEM192	201931	genome.wustl.edu	37	4	166000823	166000823	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:166000823G>C	ENST00000306480.6	-	6	948	c.803C>G	c.(802-804)cCa>cGa	p.P268R	TMEM192_ENST00000506087.1_Missense_Mutation_p.P264R	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	268						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CGTTCTACTTGGCTGACAGCC	0.522																																																	0													88.0	84.0	85.0					4																	166000823		1972	4165	6137	SO:0001583	missense	201931			BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.803C>G	4.37:g.166000823G>C	ENSP00000305069:p.Pro268Arg		Q7Z3A1|Q8N928	Missense_Mutation	SNP	NULL	p.P268R	ENST00000306480.6	37	c.803	CCDS43279.1	4	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070175	0.36566	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.97	4.21	0.49690	.	0.282167	0.31156	N	0.008148	T	0.33527	0.0866	L	0.57536	1.79	0.09310	N	1	P	0.42203	0.773	B	0.40009	0.316	T	0.30995	-0.9959	9	0.72032	D	0.01	-19.7774	7.5004	0.27513	0.0835:0.0:0.7519:0.1647	.	268	Q8IY95	TM192_HUMAN	R	268;264	.	ENSP00000305069:P268R	P	-	2	0	TMEM192	166220273	0.965000	0.33210	0.002000	0.10522	0.009000	0.06853	1.801000	0.38843	0.830000	0.34757	0.591000	0.81541	CCA	TMEM192	-	NULL		0.522	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM192	HGNC	protein_coding	OTTHUMT00000364310.3	G	NM_152681		166000823	-1	no_errors	ENST00000306480	ensembl	human	known	70_37	missense	SNP	0.047	C
TMEM52B	120939	genome.wustl.edu	37	12	10339184	10339184	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:10339184C>G	ENST00000381923.2	+	5	707	c.303C>G	c.(301-303)atC>atG	p.I101M	TMEM52B_ENST00000536952.1_Missense_Mutation_p.I101M|TMEM52B_ENST00000298530.3_Missense_Mutation_p.I81M			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	101						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGAGCACTATCACATGTGAGT	0.488																																																	0													77.0	72.0	74.0					12																	10339184		2203	4300	6503	SO:0001583	missense	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.303C>G	12.37:g.10339184C>G	ENSP00000371348:p.Ile101Met		Q96NA7	Missense_Mutation	SNP	NULL	p.I101M	ENST00000381923.2	37	c.303		12	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125832	0.56721	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.37584	1.19;1.19;1.19	5.21	3.31	0.37934	.	0.230857	0.37304	N	0.002155	T	0.30792	0.0776	L	0.59436	1.845	0.37517	D	0.917391	P;B	0.35348	0.496;0.229	B;B	0.35278	0.199;0.075	T	0.26643	-1.0097	10	0.72032	D	0.01	-11.5935	4.6892	0.12772	0.0:0.625:0.182:0.1929	.	101;81	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	M	101;81;101	ENSP00000371348:I101M;ENSP00000298530:I81M;ENSP00000446102:I101M	ENSP00000298530:I81M	I	+	3	3	C12orf59	10230451	0.481000	0.25941	0.357000	0.25798	0.848000	0.48234	-0.705000	0.05052	0.705000	0.31890	0.650000	0.86243	ATC	TMEM52B	-	NULL		0.488	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	C	NM_153022		10339184	+1	no_errors	ENST00000381923	ensembl	human	known	70_37	missense	SNP	0.971	G
TNFRSF21	27242	genome.wustl.edu	37	6	47251693	47251693	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr6:47251693G>C	ENST00000296861.2	-	3	1617	c.1224C>G	c.(1222-1224)atC>atG	p.I408M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	408					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCAGTAGTAGATCCATTTCT	0.512																																																	0													99.0	102.0	101.0					6																	47251693		2203	4300	6503	SO:0001583	missense	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1224C>G	6.37:g.47251693G>C	ENSP00000296861:p.Ile408Met		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.I408M	ENST00000296861.2	37	c.1224	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383665	0.61845	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.90676	-2.71	6.17	2.97	0.34412	Death (1);DEATH-like (1);	0.181765	0.64402	D	0.000017	D	0.84447	0.5474	N	0.24115	0.695	0.50632	D	0.999881	D	0.60160	0.987	P	0.55577	0.779	D	0.86076	0.1541	10	0.87932	D	0	.	10.5188	0.44907	0.1372:0.1146:0.7481:0.0	.	408	O75509	TNR21_HUMAN	M	408;97	ENSP00000296861:I408M	ENSP00000296861:I408M	I	-	3	3	TNFRSF21	47359652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.871000	0.48459	0.898000	0.36418	0.655000	0.94253	ATC	TNFRSF21	-	superfamily_DEATH-like,smart_Death,prints_TNFR_21		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	G	NM_014452		47251693	-1	no_errors	ENST00000296861	ensembl	human	known	70_37	missense	SNP	1.000	C
TNS3	64759	genome.wustl.edu	37	7	47384590	47384590	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:47384590C>T	ENST00000398879.1	-	19	2864	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K	TNS3_ENST00000311160.9_Missense_Mutation_p.R833K|TNS3_ENST00000355730.3_Missense_Mutation_p.R593K			Q68CZ2	TENS3_HUMAN	tensin 3	833					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACTTAAAATTCTGCCATCGAT	0.483																																																	0													101.0	98.0	99.0					7																	47384590		1992	4168	6160	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2498G>A	7.37:g.47384590C>T	ENSP00000381854:p.Arg833Lys		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R833K	ENST00000398879.1	37	c.2498	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	4.633	0.117584	0.08881	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93811	-2.84;-2.84;-3.29;-2.96	5.68	4.75	0.60458	.	1.353330	0.04255	N	0.339344	D	0.88418	0.6431	L	0.29908	0.895	0.80722	D	1	B	0.29716	0.255	B	0.24394	0.053	T	0.69544	-0.5117	10	0.09843	T	0.71	-27.4936	11.1092	0.48221	0.1843:0.8157:0.0:0.0	.	833	Q68CZ2	TENS3_HUMAN	K	833;943;833;593;289;936	ENSP00000312143:R833K;ENSP00000381854:R833K;ENSP00000347968:R593K;ENSP00000414358:R936K	ENSP00000312143:R833K	R	-	2	0	TNS3	47351115	1.000000	0.71417	0.970000	0.41538	0.166000	0.22503	2.031000	0.41117	2.664000	0.90586	0.563000	0.77884	AGA	TNS3	-	NULL		0.483	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	C	NM_022748		47384590	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	0.844	T
TRIM54	57159	genome.wustl.edu	37	2	27522162	27522162	+	Missense_Mutation	SNP	G	G	C	rs377107158		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:27522162G>C	ENST00000380075.2	+	3	731	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	TRIM54_ENST00000296098.4_Missense_Mutation_p.E131Q	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	131					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCATGAAGAAGAGAAGAT	0.582																																																	0													84.0	76.0	79.0					2																	27522162		2203	4300	6503	SO:0001583	missense	57159			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.391G>C	2.37:g.27522162G>C	ENSP00000369415:p.Glu131Gln		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E131Q	ENST00000380075.2	37	c.391	CCDS1746.2	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426624	0.83667	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.44482	0.92;0.92	5.71	5.71	0.89125	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.493042	0.21729	N	0.069996	T	0.45915	0.1366	L	0.58101	1.795	0.50171	D	0.999851	B;P	0.40602	0.293;0.723	B;B	0.42593	0.392;0.361	T	0.25984	-1.0116	10	0.26408	T	0.33	-3.904	17.3586	0.87344	0.0:0.0:1.0:0.0	.	131;131	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	Q	131	ENSP00000369415:E131Q;ENSP00000296098:E131Q	ENSP00000296098:E131Q	E	+	1	0	TRIM54	27375666	1.000000	0.71417	0.860000	0.33809	0.635000	0.38103	9.735000	0.98825	2.684000	0.91462	0.561000	0.74099	GAA	TRIM54	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box		0.582	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	G	NM_187841		27522162	+1	no_errors	ENST00000296098	ensembl	human	known	70_37	missense	SNP	1.000	C
TSEN34	79042	genome.wustl.edu	37	19	54697142	54697142	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:54697142G>C	ENST00000396383.1	+	5	1169	c.858G>C	c.(856-858)aaG>aaC	p.K286N	CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_Missense_Mutation_p.K286N|TSEN34_ENST00000429671.2_Missense_Mutation_p.K286N|TSEN34_ENST00000396388.2_Missense_Mutation_p.K286N			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	286					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGTCAGAAAGACCCTGCTCC	0.607																																					Esophageal Squamous(37;841 964 4869 42824)												0													69.0	73.0	72.0					19																	54697142		2040	4180	6220	SO:0001583	missense	79042			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.858G>C	19.37:g.54697142G>C	ENSP00000379667:p.Lys286Asn		A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic	p.K286N	ENST00000396383.1	37	c.858	CCDS42609.1	19	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400155	0.83120	.	.	ENSG00000170892	ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	D;D;D;D	0.88818	-2.43;-2.41;-2.43;-2.43	5.33	4.28	0.50868	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	4.361770	0.00906	N	0.002406	D	0.96790	0.8952	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88832	0.3306	10	0.87932	D	0	.	14.0153	0.64521	0.0799:0.0:0.9201:0.0	.	286;286	E7EQB3;Q9BSV6	.;SEN34_HUMAN	N	286	ENSP00000305524:K286N;ENSP00000397402:K286N;ENSP00000379667:K286N;ENSP00000379671:K286N	ENSP00000305524:K286N	K	+	3	2	TSEN34	59388954	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.246000	0.58740	2.673000	0.90976	0.591000	0.81541	AAG	TSEN34	-	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic		0.607	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN34	HGNC	protein_coding	OTTHUMT00000142200.1	G	NM_024075		54697142	+1	no_errors	ENST00000429671	ensembl	human	known	70_37	missense	SNP	1.000	C
TSHR	7253	genome.wustl.edu	37	14	81422242	81422242	+	3'UTR	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr14:81422242C>G	ENST00000557096.1	+	0	594				TSHR_ENST00000342443.6_Intron|TSHR_ENST00000554263.1_Intron|TSHR_ENST00000298171.2_Intron|TSHR_ENST00000554435.1_Intron|TSHR_ENST00000541158.2_Intron			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCAAGGGCATCTGCAGAGGTG	0.527			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													54.0	43.0	47.0					14																	81422242		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000557096.1:c.*591C>G	14.37:g.81422242C>G			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	RNA	SNP	-	NULL	ENST00000557096.1	37	NULL		14																																																																																			TSHR	-	-		0.527	TSHR-006	PUTATIVE	basic	processed_transcript	TSHR	HGNC	protein_coding	OTTHUMT00000413363.1	C	NM_000369		81422242	+1	no_errors	ENST00000557096	ensembl	human	putative	70_37	rna	SNP	0.008	G
TSPAN15	23555	genome.wustl.edu	37	10	71267213	71267213	+	3'UTR	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:71267213C>G	ENST00000373290.2	+	0	1486					NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15						establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GGCCTCTTCTCAGCCTCCCAG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	23555			AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.*479C>G	10.37:g.71267213C>G			Q6UW79	RNA	SNP	-	NULL	ENST00000373290.2	37	NULL	CCDS7294.1	10																																																																																			TSPAN15	-	-		0.557	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN15	HGNC	protein_coding	OTTHUMT00000048444.1	C	NM_012339		71267213	+1	no_errors	ENST00000463840	ensembl	human	known	70_37	rna	SNP	0.008	G
TTN	7273	genome.wustl.edu	37	2	179554591	179554591	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:179554591C>T	ENST00000591111.1	-	120	31068	c.30844G>A	c.(30844-30846)Gaa>Aaa	p.E10282K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E10599K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9355K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			GGAATCTTTTCTTCAGGGACA	0.393																																																	0													175.0	169.0	171.0					2																	179554591		1831	4080	5911	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.30844G>A	2.37:g.179554591C>T	ENSP00000465570:p.Glu10282Lys		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.E9355K	ENST00000591111.1	37	c.28063		2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355643	0.41700	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T;T	0.35605	1.3;1.3	5.39	5.39	0.77823	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.29491	0.0735	L	0.31526	0.94	0.80722	D	1	B;B	0.28233	0.01;0.204	B;B	0.24848	0.015;0.056	T	0.09975	-1.0650	9	0.87932	D	0	.	14.7225	0.69317	0.0:0.9283:0.0:0.0717	.	10282;10282	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	K	9355;477;109	ENSP00000343764:E9355K;ENSP00000401501:E477K	ENSP00000343764:E9355K	E	-	1	0	TTN	179262836	0.979000	0.34478	1.000000	0.80357	0.992000	0.81027	0.607000	0.24209	2.687000	0.91594	0.561000	0.74099	GAA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179554591	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
P2RX6	9127	genome.wustl.edu	37	22	21368230	21368230	+	5'Flank	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr22:21368230G>A	ENST00000413302.2	+	0	0				P2RX6_ENST00000401443.1_5'Flank|P2RX6_ENST00000443995.3_5'Flank|P2RX6_ENST00000402329.3_5'Flank|TUBA3FP_ENST00000422086.1_RNA|P2RX6_ENST00000336296.2_5'Flank|P2RX6_ENST00000591411.1_Intron			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										GCAGGGGGCTGGAGACGCCCC	0.652																																																	0																																										SO:0001631	upstream_gene_variant	113691				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689		22.37:g.21368230G>A	Exception_encountered		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	RNA	SNP	-	NULL	ENST00000413302.2	37	NULL	CCDS13788.2	22																																																																																			TUBA3FP	-	-		0.652	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3FP	HGNC	protein_coding	OTTHUMT00000319625.2	G	NM_005446		21368230	-1	no_errors	ENST00000292748	ensembl	human	known	70_37	rna	SNP	0.001	A
TUT1	64852	genome.wustl.edu	37	11	62348654	62348654	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:62348654G>C	ENST00000476907.1	-	4	1305	c.614C>G	c.(613-615)tCt>tGt	p.S205C	TUT1_ENST00000308436.7_Missense_Mutation_p.S243C|MIR3654_ENST00000496634.2_Missense_Mutation_p.S205C			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	205					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ATTTATGGAAGAGCCAAAAGG	0.527																																																	0													107.0	99.0	102.0					11																	62348654		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.614C>G	11.37:g.62348654G>C	ENSP00000419607:p.Ser205Cys		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S243C	ENST00000476907.1	37	c.728		11	.	.	.	.	.	.	.	.	.	.	G	32	5.116993	0.94385	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000494385	D;D;D	0.85861	-2.04;-2.04;-2.04	5.5	5.5	0.81552	.	0.110306	0.64402	D	0.000005	D	0.92609	0.7652	M	0.81614	2.55	0.44129	D	0.996914	D	0.89917	1.0	D	0.91635	0.999	D	0.93341	0.6710	10	0.87932	D	0	-16.7575	16.9396	0.86213	0.0:0.0:1.0:0.0	.	243	F5H0R1	.	C	243;205;119	ENSP00000308000:S243C;ENSP00000419607:S205C;ENSP00000420739:S119C	ENSP00000441670:S205C	S	-	2	0	TUT1	62105230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.978000	0.93450	2.576000	0.86940	0.555000	0.69702	TCT	TUT1	-	NULL		0.527	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	G	NM_022830		62348654	-1	no_errors	ENST00000308436	ensembl	human	known	70_37	missense	SNP	1.000	C
UGT2B17	7367	genome.wustl.edu	37	4	69433770	69433770	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:69433770T>C	ENST00000317746.2	-	1	475	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	145					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ACATCAAATTTTGACTCTTGT	0.403																																					Melanoma(18;649 833 28984 37818 38500)												0													138.0	145.0	143.0					4																	69433770		2086	3944	6030	SO:0001583	missense	7367			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.433A>G	4.37:g.69433770T>C	ENSP00000320401:p.Lys145Glu			Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K145E	ENST00000317746.2	37	c.433	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	t	7.529	0.658307	0.14645	.	.	ENSG00000197888	ENST00000317746	T	0.63580	-0.05	2.66	1.33	0.21861	.	0.333667	0.25701	U	0.028870	T	0.60025	0.2237	L	0.57130	1.785	0.09310	N	1	.	.	.	.	.	.	T	0.54702	-0.8254	8	0.66056	D	0.02	.	6.2288	0.20724	0.0:0.1383:0.0:0.8617	.	.	.	.	E	145	ENSP00000320401:K145E	ENSP00000320401:K145E	K	-	1	0	UGT2B17	69116365	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.640000	0.24705	0.223000	0.20920	0.409000	0.27619	AAA	UGT2B17	-	pfam_UDP_glucos_trans		0.403	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	T	NM_001077		69433770	-1	no_errors	ENST00000317746	ensembl	human	known	70_37	missense	SNP	0.000	C
UNC13A	23025	genome.wustl.edu	37	19	17767092	17767092	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:17767092C>G	ENST00000519716.2	-	10	882	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	UNC13A_ENST00000550896.1_Missense_Mutation_p.E295Q|UNC13A_ENST00000551649.1_Missense_Mutation_p.E295Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.E295Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.E295Q|UNC13A_ENST00000428389.2_Missense_Mutation_p.E383Q	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	295					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGGTCCCGCTCATCCTCCATG	0.637																																																	0													20.0	24.0	23.0					19																	17767092		2050	4146	6196	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.883G>C	19.37:g.17767092C>G	ENSP00000429562:p.Glu295Gln		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E383Q	ENST00000519716.2	37	c.1147	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951031	0.34471	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.81821	-1.53;-1.54;-1.53;-1.4;-1.39;-1.52	4.72	3.68	0.42216	.	0.526139	0.16009	U	0.233894	T	0.66197	0.2765	N	0.08118	0	0.28462	N	0.915824	P	0.51791	0.948	P	0.46975	0.533	T	0.58160	-0.7685	10	0.21014	T	0.42	-20.6862	10.9815	0.47497	0.0:0.9051:0.0:0.0949	.	295	Q9UPW8	UN13A_HUMAN	Q	295;383;295;295;295;295	ENSP00000429562:E295Q;ENSP00000400409:E383Q;ENSP00000252773:E295Q;ENSP00000447236:E295Q;ENSP00000447572:E295Q;ENSP00000446831:E295Q	ENSP00000252773:E295Q	E	-	1	0	UNC13A	17628092	1.000000	0.71417	0.584000	0.28653	0.803000	0.45373	7.540000	0.82074	1.106000	0.41623	0.491000	0.48974	GAG	UNC13A	-	NULL		0.637	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	C	XM_038604		17767092	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	missense	SNP	0.996	G
USP34	9736	genome.wustl.edu	37	2	61575399	61575399	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:61575399G>C	ENST00000398571.2	-	15	1967	c.1891C>G	c.(1891-1893)Cat>Gat	p.H631D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	631					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGAGGATTATGACCATGATCA	0.493																																																	0													74.0	73.0	73.0					2																	61575399		2006	4178	6184	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1891C>G	2.37:g.61575399G>C	ENSP00000381577:p.His631Asp		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.H631D	ENST00000398571.2	37	c.1891	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941531	0.34283	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.47869	0.83	6.07	6.07	0.98685	.	0.339837	0.34110	N	0.004251	T	0.30572	0.0769	N	0.14661	0.345	0.37362	D	0.911265	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	10	0.11794	T	0.64	.	15.3713	0.74568	0.0:0.0:0.8606:0.1394	.	631	Q70CQ2	UBP34_HUMAN	D	479;479;631	ENSP00000381577:H631D	ENSP00000263989:H479D	H	-	1	0	USP34	61428903	0.983000	0.35010	0.968000	0.41197	0.586000	0.36452	3.122000	0.50446	2.890000	0.99128	0.650000	0.86243	CAT	USP34	-	NULL		0.493	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	G			61575399	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	0.998	C
UNC80	285175	genome.wustl.edu	37	2	210809892	210809892	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr2:210809892G>C	ENST00000439458.1	+	45	7050	c.6970G>C	c.(6970-6972)Gag>Cag	p.E2324Q	UNC80_ENST00000272845.6_Missense_Mutation_p.E2319Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2324					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGTCAAAGCTGAGAAGCCTCT	0.413																																																	0													55.0	50.0	52.0					2																	210809892		692	1591	2283	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.6970G>C	2.37:g.210809892G>C	ENSP00000391088:p.Glu2324Gln		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.E2324Q	ENST00000439458.1	37	c.6970	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666515	0.88251	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.68624	-0.34;-0.34	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	L	0.41824	1.3	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.76995	-0.2752	10	0.56958	D	0.05	-22.4238	20.0545	0.97645	0.0:0.0:1.0:0.0	.	2324	Q8N2C7	UNC80_HUMAN	Q	2324;2319	ENSP00000391088:E2324Q;ENSP00000272845:E2319Q	ENSP00000272845:E2319Q	E	+	1	0	UNC80	210518137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.013000	0.93629	2.748000	0.94277	0.655000	0.94253	GAG	UNC80	-	NULL		0.413	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		G	NM_182587		210809892	+1	no_errors	ENST00000439458	ensembl	human	known	70_37	missense	SNP	1.000	C
USP47	55031	genome.wustl.edu	37	11	11962085	11962085	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr11:11962085G>C	ENST00000399455.2	+	20	2483	c.2363G>C	c.(2362-2364)aGa>aCa	p.R788T	USP47_ENST00000527733.1_Missense_Mutation_p.R768T|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.R700T	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	788					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGATTTTTTAGAAGTAACAAG	0.373																																																	0													85.0	82.0	83.0					11																	11962085		1821	4073	5894	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2363G>C	11.37:g.11962085G>C	ENSP00000382382:p.Arg788Thr		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R788T	ENST00000399455.2	37	c.2363		11	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615948	0.87359	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.05199	3.49;3.48;3.48	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56035	0.974;0.94;0.94	P;B;P	0.49799	0.537;0.418;0.622	T	0.33471	-0.9867	10	0.23302	T	0.38	.	19.3107	0.94186	0.0:0.0:1.0:0.0	.	788;768;700	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	T	700;768;788	ENSP00000339957:R700T;ENSP00000433146:R768T;ENSP00000382382:R788T	ENSP00000339957:R700T	R	+	2	0	USP47	11918661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.294000	0.96088	2.658000	0.90341	0.655000	0.94253	AGA	USP47	-	NULL		0.373	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	G	NM_017944		11962085	+1	no_errors	ENST00000399455	ensembl	human	known	70_37	missense	SNP	1.000	C
VCAM1	7412	genome.wustl.edu	37	1	101186190	101186190	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:101186190G>T	ENST00000294728.2	+	2	324	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	VCAM1_ENST00000370115.1_Missense_Mutation_p.G75W|VCAM1_ENST00000347652.2_Missense_Mutation_p.G75W|VCAM1_ENST00000370119.4_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	75	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GACGAATGAGGGGACCACATC	0.463																																																	0													105.0	90.0	95.0					1																	101186190		2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.223G>T	1.37:g.101186190G>T	ENSP00000294728:p.Gly75Trp		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.G75W	ENST00000294728.2	37	c.223	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450843	0.63290	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.69306	-0.39;-0.39;-0.39	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.597033	0.19255	N	0.118827	T	0.81138	0.4760	M	0.89214	3.015	0.44000	D	0.996705	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83441	0.0043	9	.	.	.	-21.6311	12.5406	0.56167	0.0782:0.0:0.9218:0.0	.	75;75	P19320-2;P19320	.;VCAM1_HUMAN	W	75	ENSP00000304611:G75W;ENSP00000294728:G75W;ENSP00000359133:G75W	.	G	+	1	0	VCAM1	100958778	0.965000	0.33210	0.986000	0.45419	0.673000	0.39480	2.778000	0.47726	2.745000	0.94114	0.655000	0.94253	GGG	VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.463	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	G	NM_001078		101186190	+1	no_errors	ENST00000294728	ensembl	human	known	70_37	missense	SNP	0.977	T
WDFY3	23001	genome.wustl.edu	37	4	85707190	85707190	+	Missense_Mutation	SNP	G	G	A	rs144349462		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr4:85707190G>A	ENST00000295888.4	-	24	4411	c.4004C>T	c.(4003-4005)aCa>aTa	p.T1335I	WDFY3_ENST00000322366.6_Missense_Mutation_p.T1335I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1335					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)		TCTTGCCACTGTTAGAGACGA	0.448																																																	0								G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	176.0	152.0	160.0		4004	5.0	0.7	4	dbSNP_134	160	0,8600		0,0,4300	no	missense	WDFY3	NM_014991.4	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1335/3527	85707190	1,13005	2203	4300	6503	SO:0001583	missense	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.4004C>T	4.37:g.85707190G>A	ENSP00000295888:p.Thr1335Ile		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_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.T1335I	ENST00000295888.4	37	c.4004	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585088	0.86748	2.27E-4	0.0	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.69306	-0.39;-0.39	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.77313	2.365	0.80722	D	1	P	0.49961	0.93	P	0.44447	0.45	T	0.77242	-0.2660	10	0.51188	T	0.08	.	18.6284	0.91350	0.0:0.0:1.0:0.0	.	1335	Q8IZQ1	WDFY3_HUMAN	I	1335	ENSP00000318466:T1335I;ENSP00000295888:T1335I	ENSP00000295888:T1335I	T	-	2	0	WDFY3	85926214	1.000000	0.71417	0.749000	0.31150	0.957000	0.61999	9.296000	0.96104	2.447000	0.82792	0.563000	0.77884	ACA	WDFY3	-	NULL		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85707190	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	0.999	A
WDR36	134430	genome.wustl.edu	37	5	110440408	110440408	+	Missense_Mutation	SNP	G	G	C	rs75923196		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr5:110440408G>C	ENST00000513710.2	+	9	1091	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H	WDR36_ENST00000506538.2_Missense_Mutation_p.D363H|WDR36_ENST00000505303.1_Missense_Mutation_p.D307H			Q8NI36	WDR36_HUMAN	WD repeat domain 36	363					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ATGGATATTTGATGGTCCTAC	0.403																																																	0													200.0	190.0	193.0					5																	110440408		2202	4300	6502	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1087G>C	5.37:g.110440408G>C	ENSP00000424628:p.Asp363His		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D363H	ENST00000513710.2	37	c.1087	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766279	0.90020	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.74526	-0.85;-0.85;3.19	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90569	0.4521	10	0.87932	D	0	-24.7541	20.4135	0.99023	0.0:0.0:1.0:0.0	.	363	Q8NI36	WDR36_HUMAN	H	363;363;307	ENSP00000423067:D363H;ENSP00000424628:D363H;ENSP00000422158:D307H	ENSP00000422158:D307H	D	+	1	0	WDR36	110468307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.869000	0.92326	2.835000	0.97688	0.591000	0.81541	GAT	WDR36	-	superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.403	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	G	NM_139281		110440408	+1	no_errors	ENST00000506538	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR72	256764	genome.wustl.edu	37	15	54003546	54003546	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr15:54003546G>C	ENST00000396328.1	-	8	1083	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	WDR72_ENST00000360509.5_Missense_Mutation_p.Q282E|WDR72_ENST00000559418.1_Missense_Mutation_p.Q282E|WDR72_ENST00000557913.1_Missense_Mutation_p.Q281E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	282										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTCAGCAGCTGATAGATGTAA	0.453																																																	0													114.0	107.0	109.0					15																	54003546		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.844C>G	15.37:g.54003546G>C	ENSP00000379619:p.Gln282Glu		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q282E	ENST00000396328.1	37	c.844	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486767	0.63962	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.15952	2.38;2.38	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.67953	2.075	0.43798	D	0.996344	D	0.69078	0.997	D	0.75020	0.985	T	0.14062	-1.0486	10	0.72032	D	0.01	.	19.2123	0.93760	0.0:0.0:1.0:0.0	.	282	Q3MJ13	WDR72_HUMAN	E	282	ENSP00000379619:Q282E;ENSP00000353699:Q282E	ENSP00000353699:Q282E	Q	-	1	0	WDR72	51790838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.602000	0.74141	2.861000	0.98227	0.650000	0.86243	CAG	WDR72	-	superfamily_WD40_repeat_dom		0.453	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	G	NM_182758		54003546	-1	no_errors	ENST00000360509	ensembl	human	known	70_37	missense	SNP	1.000	C
WLS	79971	genome.wustl.edu	37	1	68614246	68614246	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr1:68614246C>T	ENST00000262348.4	-	7	1323	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	WLS_ENST00000370976.3_Splice_Site_p.R266K|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Splice_Site_p.R355K|WLS_ENST00000540432.1_Splice_Site_p.R357K|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	357					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ACTTGCTCACCTCTCACACAT	0.522																																																	0													126.0	88.0	101.0					1																	68614246		2203	4300	6503	SO:0001630	splice_region_variant	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1070+1G>A	1.37:g.68614246C>T			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.R357K	ENST00000262348.4	37	c.1070	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.932042	0.97116	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.72625	0.972;0.978;0.926;0.972	T	0.59257	-0.7488	9	.	.	.	-4.3446	20.6634	0.99662	0.0:1.0:0.0:0.0	.	357;266;357;355	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	K	357;355;357;266	ENSP00000446112:R357K;ENSP00000346829:R355K;ENSP00000262348:R357K;ENSP00000360015:R266K	.	R	-	2	0	WLS	68386834	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.453000	0.80700	2.894000	0.99253	0.655000	0.94253	AGA	WLS	-	NULL		0.522	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	C	NM_024911	Missense_Mutation	68614246	-1	no_errors	ENST00000540432	ensembl	human	known	70_37	missense	SNP	1.000	T
WNT9B	7484	genome.wustl.edu	37	17	44950037	44950037	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr17:44950037C>T	ENST00000290015.2	+	2	285	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	WNT9B_ENST00000393461.2_Silent_p.L78L	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	78					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGCTGAGACCCTGAGGGATGC	0.672																																																	0													27.0	32.0	30.0					17																	44950037		2202	4300	6502	SO:0001819	synonymous_variant	7484			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.232C>T	17.37:g.44950037C>T			Q6UXT4|Q96Q09	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.L78	ENST00000290015.2	37	c.232	CCDS11506.1	17																																																																																			WNT9B	-	pfam_Wnt,smart_Wnt		0.672	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9B	HGNC	protein_coding	OTTHUMT00000440433.1	C	NM_003396		44950037	+1	no_errors	ENST00000290015	ensembl	human	known	70_37	silent	SNP	1.000	T
XRN2	22803	genome.wustl.edu	37	20	21309246	21309246	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:21309246C>G	ENST00000377191.3	+	4	460	c.365C>G	c.(364-366)tCa>tGa	p.S122*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.S68*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.S46*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	122				SKE -> IKR (in Ref. 1; AAD55138). {ECO:0000305}.	cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTCAGGGCATCAAAAGAAGGA	0.383																																																	0													101.0	98.0	99.0					20																	21309246		2203	4300	6503	SO:0001587	stop_gained	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.365C>G	20.37:g.21309246C>G	ENSP00000366396:p.Ser122*		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.S122*	ENST00000377191.3	37	c.365	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.772498	0.97829	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.3599	19.5251	0.95201	0.0:1.0:0.0:0.0	.	.	.	.	X	122;46;68	.	ENSP00000366396:S122X	S	+	2	0	XRN2	21257246	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.270000	0.78493	2.615000	0.88500	0.591000	0.81541	TCA	XRN2	-	pfam_Put_53exo,pirsf_5_3_exoribonuclease_2		0.383	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	C	NM_012255		21309246	+1	no_errors	ENST00000377191	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ZFC3H1	196441	genome.wustl.edu	37	12	72038798	72038798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr12:72038798G>A	ENST00000378743.3	-	4	1496	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	380					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGGCTGACTGAAGAGCCAAA	0.333																																																	0													100.0	87.0	91.0					12																	72038798		1825	4087	5912	SO:0001587	stop_gained	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1138C>T	12.37:g.72038798G>A	ENSP00000368017:p.Gln380*		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.Q380*	ENST00000378743.3	37	c.1138	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.417400	0.97550	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.5809	0.95467	0.0:0.0:1.0:0.0	.	.	.	.	X	380	.	ENSP00000368017:Q380X	Q	-	1	0	ZFC3H1	70325065	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.519000	0.90563	2.629000	0.89072	0.650000	0.86243	CAG	ZFC3H1	-	NULL		0.333	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72038798	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZHX3	23051	genome.wustl.edu	37	20	39831549	39831549	+	Missense_Mutation	SNP	C	C	T	rs528894752		TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:39831549C>T	ENST00000309060.3	-	4	2423	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	ZHX3_ENST00000540170.1_Missense_Mutation_p.E670K|ZHX3_ENST00000432768.2_Missense_Mutation_p.E670K|ZHX3_ENST00000544979.2_Missense_Mutation_p.E670K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E670K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E670K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	670					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTGGTCTCCTCAGCATTCACT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		21133	0.001		0.0	False		,,,				2504	0.0																0													145.0	149.0	147.0					20																	39831549		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2008G>A	20.37:g.39831549C>T	ENSP00000312222:p.Glu670Lys		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.E670K	ENST00000309060.3	37	c.2008	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444227	0.43429	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.14266	2.74;2.74;2.52	6.06	6.06	0.98353	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.103821	0.64402	D	0.000004	T	0.17280	0.0415	M	0.66939	2.045	0.54753	D	0.999989	B;B;B	0.31153	0.31;0.31;0.068	B;B;B	0.25140	0.039;0.043;0.058	T	0.08785	-1.0705	10	0.10902	T	0.67	-13.2085	19.6125	0.95613	0.0:1.0:0.0:0.0	.	670;670;670	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	K	670;670;670;670;448	ENSP00000362360:E670K;ENSP00000442290:E670K;ENSP00000443783:E670K	ENSP00000312222:E670K	E	-	1	0	ZHX3	39264963	1.000000	0.71417	0.821000	0.32701	0.797000	0.45037	5.493000	0.66899	2.879000	0.98667	0.650000	0.86243	GAG	ZHX3	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.507	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39831549	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	0.998	T
ZHX3	23051	genome.wustl.edu	37	20	39831588	39831588	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr20:39831588C>T	ENST00000309060.3	-	4	2384	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	ZHX3_ENST00000540170.1_Missense_Mutation_p.D657N|ZHX3_ENST00000432768.2_Missense_Mutation_p.D657N|ZHX3_ENST00000544979.2_Missense_Mutation_p.D657N|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.D657N|ZHX3_ENST00000559234.1_Missense_Mutation_p.D657N			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	657					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AACCAGCTATCAATTTCTCGT	0.502																																																	0													154.0	166.0	162.0					20																	39831588		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1969G>A	20.37:g.39831588C>T	ENSP00000312222:p.Asp657Asn		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.D657N	ENST00000309060.3	37	c.1969	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735091	0.69189	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	D;D;D	0.96041	-3.89;-3.89;-3.89	6.06	6.06	0.98353	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.047732	0.85682	D	0.000000	D	0.95822	0.8640	N	0.20845	0.615	0.50632	D	0.999889	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.992;1.0	D	0.95564	0.8632	10	0.44086	T	0.13	-23.9875	20.2348	0.98355	0.0:1.0:0.0:0.0	.	657;657;657	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	N	657;657;657;657;435	ENSP00000362360:D657N;ENSP00000442290:D657N;ENSP00000443783:D657N	ENSP00000312222:D657N	D	-	1	0	ZHX3	39265002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.824000	0.55723	2.879000	0.98667	0.650000	0.86243	GAT	ZHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.502	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39831588	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF169	169841	genome.wustl.edu	37	9	97062305	97062305	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr9:97062305G>C	ENST00000395395.2	+	5	555	c.465G>C	c.(463-465)aaG>aaC	p.K155N	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	155					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(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CATTAAGAAAGAGGCCAAGCA	0.498																																																	0													49.0	48.0	48.0					9																	97062305		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.465G>C	9.37:g.97062305G>C	ENSP00000378792:p.Lys155Asn		A2AGP5|A8K127|Q6PI28	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.K155N	ENST00000395395.2	37	c.465	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	G	3.487	-0.104572	0.06967	.	.	ENSG00000175787	ENST00000395395	T	0.06849	3.25	2.59	-0.6	0.11642	.	.	.	.	.	T	0.04907	0.0132	N	0.24115	0.695	0.09310	N	1	B	0.23377	0.084	B	0.25759	0.063	T	0.42068	-0.9473	9	0.48119	T	0.1	.	1.2149	0.01912	0.1416:0.2224:0.4088:0.2272	.	155	Q14929	ZN169_HUMAN	N	155	ENSP00000378792:K155N	ENSP00000378792:K155N	K	+	3	2	ZNF169	96102126	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.147000	0.03188	-0.118000	0.11851	0.505000	0.49811	AAG	ZNF169	-	NULL		0.498	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	G	NM_194320		97062305	+1	no_errors	ENST00000395395	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF180	7733	genome.wustl.edu	37	19	44980766	44980766	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:44980766C>G	ENST00000221327.4	-	5	2213	c.1932G>C	c.(1930-1932)ttG>ttC	p.L644F	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.L619F|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.L617F	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	644					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(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTCGAGCACTCAAGCTAAATG	0.368																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0													140.0	138.0	139.0					19																	44980766		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1932G>C	19.37:g.44980766C>G	ENSP00000221327:p.Leu644Phe		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	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.L644F	ENST00000221327.4	37	c.1932	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	C	6.294	0.422265	0.11928	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07908	3.15;3.19	5.48	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34046	N	0.004307	T	0.08980	0.0222	N	0.10945	0.07	0.30378	N	0.782245	D;D;D	0.63880	0.993;0.988;0.974	P;P;P	0.58130	0.833;0.686;0.512	T	0.05225	-1.0898	10	0.54805	T	0.06	-2.6506	8.106	0.30885	0.0:0.7454:0.0:0.2546	.	619;643;644	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	F	644;619	ENSP00000221327:L644F;ENSP00000375818:L619F	ENSP00000221327:L644F	L	-	3	2	ZNF180	49672606	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.444000	0.06854	0.783000	0.33636	0.591000	0.81541	TTG	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	C	NM_013256		44980766	-1	no_errors	ENST00000221327	ensembl	human	known	70_37	missense	SNP	0.055	G
PRAP1	118471	genome.wustl.edu	37	10	135165620	135165620	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr10:135165620C>G	ENST00000433452.2	+	4	510	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	PRAP1_ENST00000458230.1_Intron|ZNF511_ENST00000368554.4_Missense_Mutation_p.Q239E|PRAP1_ENST00000423766.1_Missense_Mutation_p.Q81E|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000463201.1_Intron			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	80						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GCCACGAGGTCAGGGCAGGGG	0.622																																																	0													68.0	69.0	69.0					10																	135165620		2203	4300	6503	SO:0001583	missense	118472			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.238C>G	10.37:g.135165620C>G	ENSP00000416126:p.Gln80Glu		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.Q239E	ENST00000433452.2	37	c.715	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	c	6.074	0.381971	0.11524	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766	T;T;T	0.31510	1.49;1.5;1.5	3.0	-1.64	0.08318	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.12837	0.005;0.008	T	0.26538	-1.0100	9	0.30854	T	0.27	0.0084	7.5954	0.28046	0.1766:0.3031:0.5203:0.0	.	81;80	Q96NZ9-3;Q96NZ9	.;PRAP1_HUMAN	E	239;80;81	ENSP00000357542:Q239E;ENSP00000416126:Q80E;ENSP00000409495:Q81E	ENSP00000409495:Q81E	Q	+	1	0	ZNF511;PRAP1	135015610	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	-0.883000	0.04170	-0.334000	0.08463	0.651000	0.88453	CAG	ZNF511	-	NULL		0.622	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	C	NM_145202		135165620	+1	no_errors	ENST00000368554	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF532	55205	genome.wustl.edu	37	18	56615335	56615335	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr18:56615335C>T	ENST00000336078.4	+	7	3518	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F	ZNF532_ENST00000591230.1_Silent_p.F914F|ZNF532_ENST00000589288.1_Silent_p.F914F|ZNF532_ENST00000591808.1_Silent_p.F914F|ZNF532_ENST00000591083.1_Silent_p.F914F	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	914					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACACTGTGTTCACCCTGCAAA	0.413																																																	0													122.0	121.0	121.0					18																	56615335		2203	4300	6503	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2742C>T	18.37:g.56615335C>T			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F914	ENST00000336078.4	37	c.2742	CCDS11969.1	18																																																																																			ZNF532	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	C	NM_018181		56615335	+1	no_errors	ENST00000336078	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF628	89887	genome.wustl.edu	37	19	55995213	55995213	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:55995213G>C	ENST00000598519.1	+	3	3206	c.2653G>C	c.(2653-2655)Gag>Cag	p.E885Q	ZNF628_ENST00000391718.2_Missense_Mutation_p.E881Q|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	885					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)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGTGGCTACTGAGGCACCCAA	0.682																																																	0													24.0	28.0	26.0					19																	55995213		2203	4298	6501	SO:0001583	missense	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2653G>C	19.37:g.55995213G>C	ENSP00000469591:p.Glu885Gln		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E885Q	ENST00000598519.1	37	c.2653	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287832	0.23478	.	.	ENSG00000197483	ENST00000391718	T	0.10382	2.88	3.41	3.41	0.39046	.	0.000000	0.47455	U	0.000233	T	0.09818	0.0241	N	0.19112	0.55	0.19945	N	0.999942	D	0.54772	0.968	P	0.47786	0.557	T	0.10314	-1.0635	10	0.87932	D	0	.	10.5238	0.44936	0.0:0.0:1.0:0.0	.	881	Q5EBL2	ZN628_HUMAN	Q	881	ENSP00000375598:E881Q	ENSP00000375598:E881Q	E	+	1	0	ZNF628	60687025	0.119000	0.22226	0.859000	0.33776	0.187000	0.23431	2.012000	0.40932	1.916000	0.55485	0.442000	0.29010	GAG	ZNF628	-	NULL		0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	G	XM_058964		55995213	+1	no_errors	ENST00000598519	ensembl	human	known	70_37	missense	SNP	0.728	C
ZNF711	7552	genome.wustl.edu	37	X	84526761	84526761	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chrX:84526761G>A	ENST00000373165.3	+	9	2519	c.2213G>A	c.(2212-2214)tGc>tAc	p.C738Y	ZNF711_ENST00000395402.1_Missense_Mutation_p.C746Y|ZNF711_ENST00000542798.1_Missense_Mutation_p.C580Y|ZNF711_ENST00000360700.4_Missense_Mutation_p.C784Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.C738Y	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	738					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTGAATTCTGCAAGAAGGGA	0.363																																																	0													58.0	54.0	55.0					X																	84526761		2203	4294	6497	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.2213G>A	X.37:g.84526761G>A	ENSP00000362260:p.Cys738Tyr		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C746Y	ENST00000373165.3	37	c.2237	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252909	0.59212	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.75	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.48286	D	0.000198	T	0.66458	0.2791	M	0.93898	3.47	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.81914	0.992;0.995	T	0.78008	-0.2372	10	0.87932	D	0	-3.6465	17.2601	0.87067	0.0:0.0:1.0:0.0	.	784;738	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Y	746;738;738;784;580	ENSP00000378798:C746Y;ENSP00000362260:C738Y;ENSP00000276123:C738Y;ENSP00000353922:C784Y;ENSP00000442071:C580Y	ENSP00000276123:C738Y	C	+	2	0	ZNF711	84413417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.086000	0.62901	0.506000	0.49869	TGC	ZNF711	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84526761	+1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF77	58492	genome.wustl.edu	37	19	2933928	2933928	+	Silent	SNP	C	C	T			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:2933928C>T	ENST00000314531.4	-	4	1289	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGTGTTTTCACATGTCTTC	0.512																																																	0													105.0	91.0	96.0					19																	2933928		2203	4300	6503	SO:0001819	synonymous_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1197G>A	19.37:g.2933928C>T			Q86XJ3|Q9NPP0	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.V399	ENST00000314531.4	37	c.1197	CCDS12099.1	19																																																																																			ZNF77	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	C	NM_021217		2933928	-1	no_errors	ENST00000314531	ensembl	human	known	70_37	silent	SNP	0.340	T
ZNF763	284390	genome.wustl.edu	37	19	12089811	12089811	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:12089811C>A	ENST00000358987.3	+	4	1199	c.1072C>A	c.(1072-1074)Cat>Aat	p.H358N	ZNF763_ENST00000545530.1_Missense_Mutation_p.H236N|ZNF763_ENST00000343949.5_Missense_Mutation_p.H361N|ZNF763_ENST00000590798.1_Missense_Mutation_p.H378N|ZNF763_ENST00000538752.1_Missense_Mutation_p.H378N			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CCTTCGTAGACATGAAAGGAC	0.413																																																	0													97.0	102.0	100.0					19																	12089811		2167	4287	6454	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1072C>A	19.37:g.12089811C>A	ENSP00000402017:p.His358Asn		B3KRU3|B4DRE7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H378N	ENST00000358987.3	37	c.1132		19	.	.	.	.	.	.	.	.	.	.	c	15.06	2.722496	0.48728	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94860	0.8339	H	0.97158	3.95	0.33815	D	0.628304	P;D;D	0.67145	0.891;0.975;0.996	D;P;D	0.85130	0.909;0.894;0.997	D	0.94969	0.8115	9	0.87932	D	0	.	9.7201	0.40297	0.0:1.0:0.0:0.0	.	378;358;361	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	N	378;361;236;358	ENSP00000438117:H378N;ENSP00000369774:H361N;ENSP00000446166:H236N;ENSP00000402017:H358N	ENSP00000369774:H361N	H	+	1	0	ZNF763	11950811	0.124000	0.22315	0.014000	0.15608	0.017000	0.09413	2.268000	0.43338	0.740000	0.32651	0.205000	0.17691	CAT	ZNF763	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	HGNC	protein_coding	OTTHUMT00000344158.1	C	NM_001012753		12089811	+1	no_errors	ENST00000538752	ensembl	human	known	70_37	missense	SNP	0.979	A
ZNF800	168850	genome.wustl.edu	37	7	127014255	127014255	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr7:127014255G>C	ENST00000393313.1	-	5	1726	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	ZNF800_ENST00000393312.1_Missense_Mutation_p.Q379E|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.Q379E			Q2TB10	ZN800_HUMAN	zinc finger protein 800	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGGACAATTTGCATATGTCTT	0.333																																																	0													95.0	102.0	99.0					7																	127014255		2203	4297	6500	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1135C>G	7.37:g.127014255G>C	ENSP00000376989:p.Gln379Glu		Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q379E	ENST00000393313.1	37	c.1135	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033281	0.19590	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.28069	1.63;1.63;1.63	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.064498	0.64402	D	0.000004	T	0.20659	0.0497	N	0.08118	0	0.26455	N	0.975532	B;B	0.29988	0.264;0.264	B;B	0.34385	0.181;0.181	T	0.17349	-1.0372	8	.	.	.	-3.2326	18.7799	0.91928	0.0:0.0:1.0:0.0	.	282;379	B7Z4V7;Q2TB10	.;ZN800_HUMAN	E	379	ENSP00000376989:Q379E;ENSP00000265827:Q379E;ENSP00000376988:Q379E	.	Q	-	1	0	ZNF800	126801491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.641000	0.61375	2.685000	0.91497	0.650000	0.86243	CAA	ZNF800	-	smart_Znf_C2H2-like		0.333	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	G	NM_176814		127014255	-1	no_errors	ENST00000265827	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF83	55769	genome.wustl.edu	37	19	53116876	53116876	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PL-01A-11D-A18J-09	TCGA-EK-A2PL-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42d4699b-a0e7-4c81-b448-b8e02138f580	29e619b2-5155-4649-a52d-77e996ddeaf4	g.chr19:53116876C>G	ENST00000597597.1	-	2	3195	c.942G>C	c.(940-942)gaG>gaC	p.E314D	ZNF83_ENST00000536937.1_Missense_Mutation_p.E314D|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.E314D|ZNF83_ENST00000391789.4_Missense_Mutation_p.E286D|ZNF83_ENST00000545872.1_Missense_Mutation_p.E314D|ZNF83_ENST00000301096.3_Missense_Mutation_p.E314D|ZNF83_ENST00000544146.1_Missense_Mutation_p.E314D|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	314					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(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTAAGGTTTCTCTCCAGTAT	0.413																																																	0													99.0	104.0	102.0					19																	53116876		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.942G>C	19.37:g.53116876C>G	ENSP00000472619:p.Glu314Asp		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E314D	ENST00000597597.1	37	c.942	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	c	9.139	1.013364	0.19277	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	2.15	1.08	0.20341	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29158	0.0725	L	0.42744	1.35	0.21950	N	0.999452	P;D	0.56521	0.608;0.976	B;P	0.54889	0.156;0.763	T	0.12372	-1.0550	9	0.72032	D	0.01	.	4.1357	0.10169	0.2318:0.6163:0.0:0.1519	.	286;314	P51522-2;P51522	.;ZNF83_HUMAN	D	314;314;314;286;314;314;286	ENSP00000445993:E314D;ENSP00000301096:E314D;ENSP00000445470:E314D;ENSP00000440713:E314D;ENSP00000439681:E314D;ENSP00000375666:E286D	ENSP00000301096:E314D	E	-	3	2	ZNF83	57808688	0.255000	0.24002	0.963000	0.40424	0.174000	0.22865	-0.083000	0.11286	1.194000	0.43101	0.398000	0.26397	GAG	ZNF83	-	pfscan_Znf_C2H2		0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	C	NM_018300		53116876	-1	no_errors	ENST00000301096	ensembl	human	known	70_37	missense	SNP	1.000	G
