#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_dbSNPPopFreq	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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AASS	10157	hgsc.bcm.edu;bcgsc.ca	37	7	121721604	121721604	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:121721604T>C	ENST00000393376.1	-	19	2325	c.2230A>G	c.(2230-2232)Aac>Gac	p.N744D	RNU7-154P_ENST00000516194.1_RNA|AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.N744D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	744	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GCTTCTCTGTTTATAAGACCT	0.373																																					p.N744D		.											.	AASS	92	0			c.A2230G						.						100.0	107.0	105.0					7																	121721604		2203	4300	6503	SO:0001583	missense	10157	exon20			CTCTGTTTATAAG	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2230A>G	7.37:g.121721604T>C	ENSP00000377040:p.Asn744Asp	110.0	0.0		67.0	4.0	NM_005763	O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	T	7.573	0.667111	0.14710	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.40225	1.04;1.04	5.72	5.72	0.89469	.	0.125574	0.64402	D	0.000001	T	0.27205	0.0667	N	0.21097	0.63	0.49483	D	0.999798	B	0.06786	0.001	B	0.15052	0.012	T	0.10706	-1.0618	10	0.02654	T	1	-14.7098	14.8262	0.70113	0.0:0.0:0.0:1.0	.	744	Q9UDR5	AASS_HUMAN	D	744	ENSP00000377040:N744D;ENSP00000403768:N744D	ENSP00000377040:N744D	N	-	1	0	AASS	121508840	1.000000	0.71417	0.963000	0.40424	0.534000	0.34807	3.922000	0.56462	2.184000	0.69523	0.528000	0.53228	AAC	.		0.373	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
ABCA12	26154	hgsc.bcm.edu;bcgsc.ca	37	2	215807647	215807647	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:215807647A>G	ENST00000272895.7	-	50	7656		c.e50+1		AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						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)		TTTGTTCTTCACCTGCTCTTT	0.393																																					.	Ovarian(66;664 1488 5121 34295)	.											.	ABCA12	99	0			c.6482+2T>C						.						112.0	99.0	104.0					2																	215807647		2203	4300	6503	SO:0001630	splice_region_variant	26154	exon43			TTCTTCACCTGCT	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.7436+1T>C	2.37:g.215807647A>G		114.0	0.0		86.0	4.0	NM_015657	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574876	0.86542	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA12	215515892	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	8.971000	0.93419	2.276000	0.75962	0.528000	0.53228	.	.		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Intron
ABCA6	23460	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	67111077	67111077	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:67111077T>C	ENST00000284425.2	-	13	1782	c.1608A>G	c.(1606-1608)ggA>ggG	p.G536G		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	536	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGGTAACTGATCCTAAGAATA	0.294																																					p.G536G		.											.	ABCA6	159	0			c.A1608G						.						46.0	45.0	45.0					17																	67111077		2203	4300	6503	SO:0001630	splice_region_variant	23460	exon13			AACTGATCCTAAG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1607-1A>G	17.37:g.67111077T>C		52.0	0.0		46.0	5.0	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																			.		0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Silent
ABHD12	26090	hgsc.bcm.edu;bcgsc.ca	37	20	25284191	25284191	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:25284191T>C	ENST00000339157.5	-	11	1296	c.1024A>G	c.(1024-1026)Aga>Gga	p.R342G	ABHD12_ENST00000376542.3_Missense_Mutation_p.R342G	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	342					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CCCACCTTTCTGCCAAGCTGG	0.637																																					p.R342G		.											.	ABHD12	91	0			c.A1024G						.						95.0	65.0	75.0					20																	25284191		2203	4300	6503	SO:0001583	missense	26090	exon11			CCTTTCTGCCAAG	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.1024A>G	20.37:g.25284191T>C	ENSP00000341408:p.Arg342Gly	38.0	0.0		35.0	4.0	NM_001042472	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303914	0.60305	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.24350	1.86;1.86	5.23	5.23	0.72850	.	0.088799	0.85682	D	0.000000	T	0.29588	0.0738	M	0.73372	2.23	0.45648	D	0.998579	B;P;P	0.39717	0.038;0.684;0.646	B;B;B	0.34536	0.03;0.185;0.164	T	0.19063	-1.0317	10	0.62326	D	0.03	-21.1429	15.2379	0.73447	0.0:0.0:0.0:1.0	.	304;342;342	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	G	342;342;304	ENSP00000365725:R342G;ENSP00000341408:R342G	ENSP00000341408:R342G	R	-	1	2	ABHD12	25232191	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.945000	0.49043	2.319000	0.78375	0.533000	0.62120	AGA	.		0.637	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600	
ABL1	25	hgsc.bcm.edu;bcgsc.ca	37	9	133761037	133761037	+	Silent	SNP	G	G	T	rs148391456		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:133761037G>T	ENST00000318560.5	+	11	3741	c.3360G>T	c.(3358-3360)tcG>tcT	p.S1120S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1120	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCCTCAGTTCGGTGAAGGAAA	0.592			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.S1139S		.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1	3810	0			c.G3417T						.						24.0	27.0	26.0					9																	133761037		2200	4300	6500	SO:0001819	synonymous_variant	25	exon11			CAGTTCGGTGAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3360G>T	9.37:g.133761037G>T		121.0	0.0		76.0	4.0	NM_007313	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																			G|1.000;A|0.000		0.592	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
ACAP1	9744	hgsc.bcm.edu;bcgsc.ca	37	17	7249578	7249578	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:7249578T>C	ENST00000158762.3	+	11	1076	c.870T>C	c.(868-870)atT>atC	p.I290I		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	290	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGTTCACCATTCAGAGCAACC	0.527											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I290I		.											.	ACAP1	153	0			c.T870C						.						148.0	143.0	145.0					17																	7249578		2203	4300	6503	SO:0001819	synonymous_variant	9744	exon11			CACCATTCAGAGC	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.870T>C	17.37:g.7249578T>C		189.0	0.0	640	109.0	5.0	NM_014716	Q53XN9	Silent	SNP	ENST00000158762.3	37	CCDS11101.1																																																																																			.		0.527	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
ACACA	31	hgsc.bcm.edu;bcgsc.ca	37	17	35598872	35598872	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:35598872T>C	ENST00000394406.2	-	23	3108	c.2918A>G	c.(2917-2919)cAg>cGg	p.Q973R	ACACA_ENST00000353139.5_Missense_Mutation_p.Q1010R|ACACA_ENST00000335166.5_Missense_Mutation_p.Q895R|ACACA_ENST00000360679.3_Missense_Mutation_p.Q915R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	973					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTACTACCTCTGTACCAGCTG	0.403																																					p.Q1010R	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	.											.	ACACA	154	0			c.A3029G						.						116.0	102.0	107.0					17																	35598872		2203	4300	6503	SO:0001583	missense	31	exon23			TACCTCTGTACCA	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2918A>G	17.37:g.35598872T>C	ENSP00000377928:p.Gln973Arg	224.0	0.0		121.0	5.0	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451271	0.43531	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.89	4.89	0.63831	Acetyl-CoA carboxylase, central domain (1);	0.059531	0.64402	D	0.000001	T	0.43211	0.1237	L	0.56340	1.77	0.80722	D	1	P;B;B	0.38978	0.652;0.059;0.048	B;B;B	0.42827	0.399;0.036;0.021	T	0.26950	-1.0088	10	0.26408	T	0.33	.	13.8335	0.63395	0.0:0.0:0.0:1.0	.	1010;973;915	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	R	1010;915;973;997;895	ENSP00000344789:Q1010R;ENSP00000353898:Q915R;ENSP00000377928:Q973R;ENSP00000335323:Q895R	ENSP00000335323:Q895R	Q	-	2	0	ACACA	32672985	1.000000	0.71417	0.994000	0.49952	0.584000	0.36387	7.868000	0.87116	2.049000	0.60858	0.482000	0.46254	CAG	.		0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
ACN9	57001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	96810376	96810376	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:96810376C>A	ENST00000432641.2	+	2	1361	c.227C>A	c.(226-228)aCt>aAt	p.T76N	ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					CAAAATTCAACTGGAAAAGCA	0.363																																					p.T76N		.											.	ACN9	90	0			c.C227A						.						79.0	79.0	79.0					7																	96810376		2203	4300	6503	SO:0001583	missense	57001	exon2			ATTCAACTGGAAA	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.227C>A	7.37:g.96810376C>A	ENSP00000414066:p.Thr76Asn	649.0	0.0		385.0	131.0	NM_020186		Missense_Mutation	SNP	ENST00000432641.2	37	CCDS5648.1	.	.	.	.	.	.	.	.	.	.	C	6.924	0.540194	0.13250	.	.	ENSG00000196636	ENST00000432641	.	.	.	4.99	3.12	0.35913	.	1.243490	0.05323	N	0.526843	T	0.37652	0.1011	L	0.46741	1.465	0.19775	N	0.999958	B	0.27316	0.175	B	0.28465	0.09	T	0.30149	-0.9988	9	0.17832	T	0.49	-0.0866	8.3655	0.32385	0.1874:0.6515:0.161:0.0	.	76	Q9NRP4	ACN9_HUMAN	N	76	.	ENSP00000414066:T76N	T	+	2	0	ACN9	96648312	0.350000	0.24878	0.668000	0.29813	0.560000	0.35617	1.221000	0.32503	0.555000	0.29079	0.591000	0.81541	ACT	.		0.363	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186	
PXYLP1	92370	ucsc.edu;bcgsc.ca	37	3	141011192	141011192	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:141011192T>C	ENST00000286353.4	+	6	725	c.588T>C	c.(586-588)tcT>tcC	p.S196S	ACPL2_ENST00000504264.1_Silent_p.S179S|ACPL2_ENST00000508812.1_Silent_p.S187S|ACPL2_ENST00000393010.2_Silent_p.S196S|ACPL2_ENST00000393007.1_Silent_p.S180S|ACPL2_ENST00000502783.1_Silent_p.S158S|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		196						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATGATTGGTCTGCAGACCAGC	0.478																																					p.S196S		.											.	ACPL2	91	0			c.T588C						.						73.0	74.0	74.0					3																	141011192		2203	4300	6503	SO:0001819	synonymous_variant	92370	exon8			TTGGTCTGCAGAC																												ENST00000286353.4:c.588T>C	3.37:g.141011192T>C		64.0	0.0		47.0	4.0	NM_152282	D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	CCDS3116.1																																																																																			.		0.478	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2		
ADCY7	113	hgsc.bcm.edu;bcgsc.ca	37	16	50346835	50346835	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:50346835T>C	ENST00000394697.2	+	22	2979	c.2639T>C	c.(2638-2640)gTc>gCc	p.V880A	ADCY7_ENST00000254235.3_Missense_Mutation_p.V880A			P51828	ADCY7_HUMAN	adenylate cyclase 7	880	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGCGTCTGTGTCATGTTTGCC	0.532																																					p.V880A		.											.	ADCY7	91	0			c.T2639C						.						256.0	195.0	215.0					16																	50346835		2198	4300	6498	SO:0001583	missense	113	exon21			TCTGTGTCATGTT	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2639T>C	16.37:g.50346835T>C	ENSP00000378187:p.Val880Ala	83.0	0.0		51.0	4.0	NM_001114	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079819	0.94050	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	D;D	0.84442	-1.85;-1.85	5.47	5.47	0.80525	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.39985	U	0.001212	D	0.95579	0.8563	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97429	1.0014	10	0.87932	D	0	.	15.5676	0.76306	0.0:0.0:0.0:1.0	.	880	P51828	ADCY7_HUMAN	A	880	ENSP00000378187:V880A;ENSP00000254235:V880A	ENSP00000254235:V880A	V	+	2	0	ADCY7	48904336	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.036000	0.88901	2.063000	0.61619	0.459000	0.35465	GTC	.		0.532	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
AKAP13	11214	hgsc.bcm.edu;bcgsc.ca	37	15	86273745	86273745	+	Splice_Site	SNP	A	A	G	rs116261620	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:86273745A>G	ENST00000394518.2	+	30	7184	c.7089A>G	c.(7087-7089)gaA>gaG	p.E2363E	AKAP13_ENST00000394510.2_Splice_Site_p.E608E|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Splice_Site_p.E2367E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2363	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCCTGCAGAACAACTTCACC	0.438											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E2367E	Melanoma(94;603 1453 3280 32295 32951)	.											.	AKAP13	258	0			c.A7101G						.						119.0	112.0	114.0					15																	86273745		2202	4299	6501	SO:0001630	splice_region_variant	11214	exon30			TGCAGAACAACTT	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7088-1A>G	15.37:g.86273745A>G		60.0	0.0	1243	56.0	4.0	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	CCDS32319.1																																																																																			A|0.998;C|0.002		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	Silent
AKAP8	10270	hgsc.bcm.edu;bcgsc.ca	37	19	15485443	15485443	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:15485443G>A	ENST00000269701.2	-	3	122	c.62C>T	c.(61-63)gCa>gTa	p.A21V		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	21					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGTTCCATATGCACCTTAGGG	0.617																																					p.A21V	GBM(190;1671 2163 3274 27186 30476)	.											.	AKAP8	290	0			c.C62T						.						100.0	89.0	93.0					19																	15485443		2203	4300	6503	SO:0001583	missense	10270	exon3			CCATATGCACCTT	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.62C>T	19.37:g.15485443G>A	ENSP00000269701:p.Ala21Val	177.0	0.0		94.0	5.0	NM_005858		Missense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626450	0.46840	.	.	ENSG00000105127	ENST00000269701	T	0.47869	0.83	5.42	5.42	0.78866	.	0.392722	0.21585	N	0.072187	T	0.42517	0.1206	L	0.44542	1.39	0.80722	D	1	B	0.32573	0.376	B	0.30401	0.115	T	0.35151	-0.9800	10	0.45353	T	0.12	-8.3054	16.1296	0.81418	0.0:0.0:1.0:0.0	.	21	O43823	AKAP8_HUMAN	V	21	ENSP00000269701:A21V	ENSP00000269701:A21V	A	-	2	0	AKAP8	15346443	0.977000	0.34250	0.974000	0.42286	0.350000	0.29205	5.244000	0.65400	2.537000	0.85549	0.563000	0.77884	GCA	.		0.617	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
ALG2	85365	hgsc.bcm.edu;bcgsc.ca	37	9	101980978	101980978	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:101980978C>T	ENST00000476832.1	-	2	550	c.489G>A	c.(487-489)gaG>gaA	p.E163E	ALG2_ENST00000319033.6_Silent_p.E70E	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TGGTGTATTCCTCTATCCAGT	0.448																																					p.E163E		.											.	ALG2	92	0			c.G489A						.						91.0	91.0	91.0					9																	101980978		2203	4300	6503	SO:0001819	synonymous_variant	85365	exon2			GTATTCCTCTATC	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.489G>A	9.37:g.101980978C>T		79.0	0.0		47.0	4.0	NM_033087	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	CCDS6739.1																																																																																			.		0.448	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087	
ALG8	79053	hgsc.bcm.edu;bcgsc.ca	37	11	77832116	77832116	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:77832116A>G	ENST00000299626.5	-	4	544	c.473T>C	c.(472-474)gTg>gCg	p.V158A	ALG8_ENST00000376156.3_Missense_Mutation_p.V158A|ALG8_ENST00000532552.2_Intron	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	158					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GATACGGTCCACAATTAATAA	0.318																																					p.V158A		.											.	ALG8	93	0			c.T473C						.						160.0	152.0	155.0					11																	77832116		2200	4292	6492	SO:0001583	missense	79053	exon4			CGGTCCACAATTA	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.473T>C	11.37:g.77832116A>G	ENSP00000299626:p.Val158Ala	148.0	0.0		98.0	5.0	NM_024079	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.679874|4.679874	0.88542|0.88542	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099|ENST00000532306;ENST00000529139	D;D;D;D;D;D|.	0.85955|.	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84938|0.84938	0.5583|0.5583	M|M	0.91872|0.91872	3.25|3.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	D|D	0.88331|0.88331	0.2968|0.2968	10|5	0.72032|.	D|.	0.01|.	-12.6418|-12.6418	16.1708|16.1708	0.81812|0.81812	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	158;158|.	Q9BVK2;A6NDW6|.	ALG8_HUMAN;.|.	A|R	158;158;107;159;70;70|32;3	ENSP00000299626:V158A;ENSP00000365326:V158A;ENSP00000435467:V107A;ENSP00000434660:V159A;ENSP00000435417:V70A;ENSP00000436064:V70A|.	ENSP00000299626:V158A|.	V|W	-|-	2|1	0|0	ALG8|ALG8	77509764|77509764	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	8.047000|8.047000	0.89440|0.89440	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	GTG|TGG	.		0.318	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	
ANXA7	310	hgsc.bcm.edu;bcgsc.ca	37	10	75156931	75156931	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:75156931G>T	ENST00000372921.5	-	4	417	c.361C>A	c.(361-363)Cca>Aca	p.P121T	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	121	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CCAGGTAGTGGAACCTGTGCT	0.448																																					p.P121T		.											.	ANXA7	516	0			c.C361A						.						62.0	53.0	56.0					10																	75156931		2203	4300	6503	SO:0001583	missense	310	exon4			GTAGTGGAACCTG	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.361C>A	10.37:g.75156931G>T	ENSP00000362012:p.Pro121Thr	61.0	0.0		56.0	4.0	NM_004034	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358219	0.41801	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000394847	T;T	0.02552	4.25;4.43	5.48	4.57	0.56435	.	1.044460	0.07552	N	0.915625	T	0.08670	0.0215	L	0.32530	0.975	0.80722	D	1	P;D;P	0.69078	0.917;0.997;0.935	P;P;P	0.61397	0.529;0.888;0.476	T	0.26121	-1.0112	10	0.45353	T	0.12	.	12.5497	0.56220	0.0817:0.0:0.9183:0.0	.	48;121;121	B4DWU2;P20073-2;P20073	.;.;ANXA7_HUMAN	T	121	ENSP00000362012:P121T;ENSP00000362010:P121T	ENSP00000362010:P121T	P	-	1	0	ANXA7	74826937	1.000000	0.71417	0.974000	0.42286	0.031000	0.12232	5.304000	0.65744	1.452000	0.47756	-0.300000	0.09419	CCA	.		0.448	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	
APOD	347	hgsc.bcm.edu;bcgsc.ca	37	3	195306237	195306237	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:195306237C>A	ENST00000343267.3	-	2	457	c.96G>T	c.(94-96)ccG>ccT	p.P32P		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	32					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTCCTGCACCGGAGGATTGG	0.512																																					p.P32P		.											.	APOD	516	0			c.G96T						.						120.0	124.0	123.0					3																	195306237		2203	4300	6503	SO:0001819	synonymous_variant	347	exon2			CTGCACCGGAGGA		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.96G>T	3.37:g.195306237C>A		89.0	0.0		45.0	4.0	NM_001647	B2R579|D3DNW6|Q6IBG6	Silent	SNP	ENST00000343267.3	37	CCDS33925.1																																																																																			.		0.512	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647	
ARHGAP18	93663	hgsc.bcm.edu;bcgsc.ca	37	6	129937450	129937450	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:129937450T>C	ENST00000368149.2	-	7	1041		c.e7-2			NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GACCAGAATCTGCAAGAAAAA	0.323																																					.		.											.	ARHGAP18	230	0			c.953-2A>G						.						71.0	65.0	67.0					6																	129937450		2203	4300	6503	SO:0001630	splice_region_variant	93663	exon8			AGAATCTGCAAGA	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.953-2A>G	6.37:g.129937450T>C		167.0	0.0		86.0	4.0	NM_033515		Splice_Site	SNP	ENST00000368149.2	37	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849916	0.71603	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0773	0.80976	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP18	129979143	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.151000	0.77411	2.254000	0.74563	0.482000	0.46254	.	.		0.323	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515	Intron
ARHGEF26	26084	hgsc.bcm.edu;bcgsc.ca	37	3	153840493	153840493	+	Missense_Mutation	SNP	A	A	G	rs376185280		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:153840493A>G	ENST00000356448.4	+	2	996	c.712A>G	c.(712-714)Aac>Gac	p.N238D	ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.N238D|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.N238D|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	238					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTTGAGTACAAACAGCCCCGC	0.512																																					p.N238D	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	.											.	ARHGEF26	47	0			c.A712G						.						15.0	17.0	16.0					3																	153840493		1850	4097	5947	SO:0001583	missense	26084	exon2			AGTACAAACAGCC	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.712A>G	3.37:g.153840493A>G	ENSP00000348828:p.Asn238Asp	63.0	0.0		56.0	4.0	NM_001251962	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469241	0.63625	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.56611	0.45;0.45;2.27	5.04	2.43	0.29744	.	0.325138	0.36167	N	0.002760	T	0.31949	0.0813	L	0.27053	0.805	0.32654	N	0.51905	P;P	0.43094	0.682;0.799	B;B	0.35413	0.202;0.202	T	0.40776	-0.9545	10	0.12766	T	0.61	-23.0438	12.0788	0.53659	0.5934:0.4066:0.0:0.0	.	238;238	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	D	238	ENSP00000348828:N238D;ENSP00000423418:N238D;ENSP00000423295:N238D	ENSP00000348828:N238D	N	+	1	0	ARHGEF26	155323183	0.004000	0.15560	0.966000	0.40874	0.942000	0.58702	0.098000	0.15189	0.712000	0.32039	0.533000	0.62120	AAC	.		0.512	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
ARID1A	8289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	27094372	27094372	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:27094372A>G	ENST00000324856.7	+	11	3451	c.3080A>G	c.(3079-3081)tAt>tGt	p.Y1027C	ARID1A_ENST00000457599.2_Missense_Mutation_p.Y1027C|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y644C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1027	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGGACCGTTATCTGGCCTTC	0.507			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.Y1027C		.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	584	0			c.A3080G						.						216.0	175.0	189.0					1																	27094372		2203	4300	6503	SO:0001583	missense	8289	exon11			ACCGTTATCTGGC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3080A>G	1.37:g.27094372A>G	ENSP00000320485:p.Tyr1027Cys	348.0	0.0		223.0	62.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471064	0.84533	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.46063	0.88;0.88;0.88	5.17	5.17	0.71159	ARID/BRIGHT DNA-binding domain (5);	0.060291	0.64402	D	0.000002	T	0.62097	0.2400	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.65496	-0.6154	10	0.72032	D	0.01	-4.6331	15.1717	0.72878	1.0:0.0:0.0:0.0	.	1027;1027;681	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	C	1027;1027;644	ENSP00000320485:Y1027C;ENSP00000387636:Y1027C;ENSP00000363267:Y644C	ENSP00000320485:Y1027C	Y	+	2	0	ARID1A	26966959	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.139000	0.94554	2.163000	0.67991	0.533000	0.62120	TAT	.		0.507	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
ASTN2	23245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	119858432	119858432	+	Splice_Site	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:119858432T>A	ENST00000313400.4	-	5	1269		c.e5-2		AL354981.1_ENST00000583553.1_RNA|ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site|ASTN2_ENST00000373996.3_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2						negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGATTCCTCCTGTGAGTAAGC	0.542																																					.		.											.	ASTN2	161	0			c.1016-2A>T						.						95.0	74.0	81.0					9																	119858432		2203	4300	6503	SO:0001630	splice_region_variant	23245	exon5			TCCTCCTGTGAGT	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1169-2A>T	9.37:g.119858432T>A		134.0	0.0		81.0	25.0	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Splice_Site	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	T	18.36	3.606103	0.66445	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4809	0.55842	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASTN2	118898253	1.000000	0.71417	0.985000	0.45067	0.796000	0.44982	4.485000	0.60279	2.013000	0.59113	0.402000	0.26972	.	.		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	Intron
ATP7A	538	hgsc.bcm.edu;bcgsc.ca	37	X	77258577	77258577	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:77258577T>C	ENST00000341514.6	+	6	1706	c.1551T>C	c.(1549-1551)taT>taC	p.Y517Y	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.Y517Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	517	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TAGGAATATATTCTATACTTG	0.343																																					p.Y517Y		.											.	ATP7A	130	0			c.T1551C						.						111.0	104.0	106.0					X																	77258577		2203	4295	6498	SO:0001819	synonymous_variant	538	exon6			AATATATTCTATA	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1551T>C	X.37:g.77258577T>C		113.0	0.0		82.0	4.0	NM_000052	B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	CCDS35339.1																																																																																			.		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
BAG4	9530	hgsc.bcm.edu;bcgsc.ca	37	8	38067825	38067825	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:38067825A>G	ENST00000287322.4	+	5	1459	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E	BAG4_ENST00000432471.2_Silent_p.E360E	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	396	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTGAACAAGAAGTAGAAGAAT	0.398																																					p.E396E		.											.	BAG4	228	0			c.A1188G						.						43.0	46.0	45.0					8																	38067825		2203	4300	6503	SO:0001819	synonymous_variant	9530	exon5			ACAAGAAGTAGAA	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1188A>G	8.37:g.38067825A>G		235.0	0.0		93.0	4.0	NM_004874	B4E217|O95818	Silent	SNP	ENST00000287322.4	37	CCDS6104.1																																																																																			.		0.398	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874	
BAZ2B	29994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	160242972	160242972	+	Silent	SNP	A	A	C	rs532285305		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:160242972A>C	ENST00000392783.2	-	22	3858	c.3363T>G	c.(3361-3363)ctT>ctG	p.L1121L	BAZ2B_ENST00000392782.1_Silent_p.L1085L|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Silent_p.L1021L|BAZ2B_ENST00000355831.2_Silent_p.L1087L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1121	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATCCCTCTTGAAGAACACTCA	0.428																																					p.L1121L		.											.	BAZ2B	94	0			c.T3363G						.						115.0	105.0	108.0					2																	160242972		1878	4119	5997	SO:0001819	synonymous_variant	29994	exon22			CTCTTGAAGAACA	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3363T>G	2.37:g.160242972A>C		255.0	0.0		153.0	34.0	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984718	0.53934	.	.	ENSG00000123636	ENST00000294905	.	.	.	6.08	4.9	0.64082	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56117	-0.8032	4	.	.	.	-4.5391	7.8259	0.29315	0.7917:0.14:0.0683:0.0	.	.	.	.	A	182	.	.	S	-	1	0	BAZ2B	159951218	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.722000	0.25925	1.087000	0.41251	0.482000	0.46254	TCA	.		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
RIC8A	60626	hgsc.bcm.edu;bcgsc.ca	37	11	206034	206034	+	5'Flank	SNP	G	G	T	rs199668338		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:206034G>T	ENST00000526104.1	+	0	0				RP11-304M2.5_ENST00000526963.1_RNA|RIC8A_ENST00000325207.5_5'Flank|BET1L_ENST00000332865.6_Missense_Mutation_p.P10Q|BET1L_ENST00000325147.9_Missense_Mutation_p.P10Q|BET1L_ENST00000486280.1_5'UTR|BET1L_ENST00000529614.2_Missense_Mutation_p.P10Q|BET1L_ENST00000410108.1_Missense_Mutation_p.P10Q|BET1L_ENST00000382762.3_Missense_Mutation_p.P10Q			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACAGCGCCCGGGCTCTGAGC	0.582																																					p.P10Q		.											.	BET1L	514	0			c.C29A						.						68.0	65.0	66.0					11																	206034		2203	4300	6503	SO:0001631	upstream_gene_variant	51272	exon2			GCGCCCGGGCTCT	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069		11.37:g.206034G>T	Exception_encountered	119.0	0.0		70.0	4.0	NM_016526	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37		.	.	.	.	.	.	.	.	.	.	G	12.61	1.990213	0.35131	.	.	ENSG00000177951	ENST00000410108;ENST00000325147;ENST00000382762;ENST00000332865;ENST00000529614	.	.	.	4.17	4.17	0.49024	.	0.641285	0.15582	N	0.254831	T	0.49184	0.1542	N	0.04959	-0.14	0.80722	D	1	B;D	0.57571	0.089;0.98	B;P	0.58391	0.078;0.838	T	0.59364	-0.7468	9	0.52906	T	0.07	.	16.7427	0.85464	0.0:0.0:1.0:0.0	.	10;10	Q9NYM9;B8ZZS0	BET1L_HUMAN;.	Q	10	.	ENSP00000339093:P10Q	P	-	2	0	BET1L	196034	0.777000	0.28628	0.432000	0.26747	0.040000	0.13550	3.621000	0.54210	2.620000	0.88729	0.555000	0.69702	CCG	.		0.582	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
BRCA1	672	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	41246557	41246557	+	Missense_Mutation	SNP	T	T	C	rs80359872		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:41246557T>C	ENST00000357654.3	-	10	1109	c.991A>G	c.(991-993)Agg>Ggg	p.R331G	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R284G|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R331G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R35G|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.R331G|BRCA1_ENST00000354071.3_Missense_Mutation_p.R331G	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	331					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGTCCGCCTATCATTACAT	0.433			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.R331G		.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1	3415	0			c.A991G						.						199.0	185.0	190.0					17																	41246557		2203	4300	6503	SO:0001583	missense	672	exon10	Familial Cancer Database		TCCGCCTATCATT	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.991A>G	17.37:g.41246557T>C	ENSP00000350283:p.Arg331Gly	154.0	0.0		116.0	5.0	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.242|9.242	1.038477|1.038477	0.19669|0.19669	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.88509	.|-2.11;-2.23;-2.22;-2.04;-2.11;-2.24;-1.8;-1.8;-2.39;-1.8	4.95|4.95	2.78|2.78	0.32641|0.32641	.|.	.|0.188754	.|0.38605	.|N	.|0.001635	D|D	0.83751|0.83751	0.5322|0.5322	L|L	0.49640|0.49640	1.575|1.575	0.09310|0.09310	N|N	1|1	.|B;B;B;B;P;B	.|0.44986	.|0.016;0.016;0.211;0.191;0.847;0.421	.|B;B;B;B;B;B	.|0.43194	.|0.007;0.007;0.143;0.084;0.411;0.283	T|T	0.73388|0.73388	-0.3998|-0.3998	5|10	.|0.29301	.|T	.|0.29	.|.	6.6838|6.6838	0.23134|0.23134	0.0:0.2505:0.0:0.7495|0.0:0.2505:0.0:0.7495	.|.	.|331;290;331;331;331;331	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	M|G	196|331;331;331;331;35;331;284;331;305;35;331	.|ENSP00000350283:R331G;ENSP00000326002:R331G;ENSP00000246907:R331G;ENSP00000310938:R35G;ENSP00000418960:R331G;ENSP00000418775:R284G;ENSP00000419274:R331G;ENSP00000419988:R305G;ENSP00000418986:R35G;ENSP00000419103:R331G	.|ENSP00000310938:R35G	I|R	-|-	3|1	3|2	BRCA1|BRCA1	38500083|38500083	0.003000|0.003000	0.15002|0.15002	0.980000|0.980000	0.43619|0.43619	0.604000|0.604000	0.37047|0.37047	0.380000|0.380000	0.20602|0.20602	1.027000|1.027000	0.39758|0.39758	0.533000|0.533000	0.62120|0.62120	ATA|AGG	.		0.433	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
BPTF	2186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	65942113	65942113	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:65942113C>T	ENST00000321892.4	+	23	7728	c.7667C>T	c.(7666-7668)cCc>cTc	p.P2556L	BPTF_ENST00000306378.6_Missense_Mutation_p.P2430L|BPTF_ENST00000424123.3_Intron|BPTF_ENST00000335221.5_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2556					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGCCCCAAGTCATT	0.478																																					p.P2430L		.											.	BPTF	94	0			c.C7289T						.						117.0	104.0	108.0					17																	65942113		2203	4300	6503	SO:0001583	missense	2186	exon21			CACAGCCCCAAGT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7667C>T	17.37:g.65942113C>T	ENSP00000315454:p.Pro2556Leu	198.0	0.0		149.0	31.0	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	16.26	3.074271	0.55646	.	.	ENSG00000171634	ENST00000306378;ENST00000321892	T;T	0.63417	-0.04;2.02	6.1	6.1	0.99115	.	.	.	.	.	T	0.54062	0.1835	L	0.34521	1.04	0.80722	D	1	P	0.38078	0.617	B	0.33960	0.173	T	0.52215	-0.8605	9	0.38643	T	0.18	-8.4007	20.7146	0.99709	0.0:1.0:0.0:0.0	.	2430	Q12830-2	.	L	2430;2556	ENSP00000307208:P2430L;ENSP00000315454:P2556L	ENSP00000307208:P2430L	P	+	2	0	BPTF	63372575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.492000	0.60334	2.902000	0.99343	0.650000	0.86243	CCC	.		0.478	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
BTN3A1	11119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	26413697	26413697	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:26413697A>C	ENST00000289361.6	+	10	1687	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K388T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GATGGGAATAAGTATCGGACT	0.478																																					p.K440T		.											.	BTN3A1	92	0			c.A1319C						.						141.0	143.0	142.0					6																	26413697		2203	4300	6503	SO:0001583	missense	11119	exon10			GGAATAAGTATCG	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1319A>C	6.37:g.26413697A>C	ENSP00000289361:p.Lys440Thr	109.0	0.0		60.0	15.0	NM_007048	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	8.273	0.813912	0.16537	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.60548	0.18;0.18	2.31	1.12	0.20585	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.17534	0.0421	N	0.12527	0.23	0.09310	N	1	P;P	0.48589	0.802;0.912	B;B	0.41135	0.265;0.348	T	0.03829	-1.1000	9	0.52906	T	0.07	.	5.6531	0.17627	0.8487:0.0:0.1513:0.0	.	388;440	E9PGB4;O00481	.;BT3A1_HUMAN	T	440;388	ENSP00000289361:K440T;ENSP00000406667:K388T	ENSP00000289361:K440T	K	+	2	0	BTN3A1	26521676	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-5.592000	0.00111	0.309000	0.22966	0.496000	0.49642	AAG	.		0.478	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		
C16orf71	146562	hgsc.bcm.edu;bcgsc.ca	37	16	4793096	4793096	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:4793096A>G	ENST00000299320.5	+	5	1314	c.836A>G	c.(835-837)gAa>gGa	p.E279G	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.E293G	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	279										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCGGGACAAGAAGACAACCAG	0.522																																					p.E279G		.											.	C16orf71	68	0			c.A836G						.						165.0	140.0	149.0					16																	4793096		2197	4300	6497	SO:0001583	missense	146562	exon5			GACAAGAAGACAA	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.836A>G	16.37:g.4793096A>G	ENSP00000299320:p.Glu279Gly	126.0	0.0		86.0	4.0	NM_139170	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004898	0.54254	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.18016	2.24	4.65	2.32	0.28847	.	0.168881	0.28425	N	0.015399	T	0.15652	0.0377	L	0.52573	1.65	0.09310	N	1	P	0.46142	0.873	B	0.43575	0.424	T	0.12811	-1.0533	10	0.72032	D	0.01	-16.3339	4.6167	0.12430	0.7036:0.1955:0.1008:0.0	.	279	Q8IYS4	CP071_HUMAN	G	279;34	ENSP00000299320:E279G	ENSP00000299320:E279G	E	+	2	0	C16orf71	4733097	0.084000	0.21492	0.002000	0.10522	0.824000	0.46624	1.737000	0.38197	0.359000	0.24239	0.524000	0.50904	GAA	.		0.522	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	
CFAP20	29105	hgsc.bcm.edu;bcgsc.ca	37	16	58148804	58148804	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:58148804G>T	ENST00000262498.3	-	5	820	c.486C>A	c.(484-486)atC>atA	p.I162I	C16orf80_ENST00000562443.1_5'Flank|CTB-134F13.1_ENST00000564672.1_RNA	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAACCCGTCGGATGCGACAAT	0.483																																					p.I162I	Pancreas(103;1212 1612 18629 30162 52390)	.											.	C16orf80	226	0			c.C486A						.						104.0	102.0	102.0					16																	58148804		2198	4300	6498	SO:0001819	synonymous_variant	29105	exon5			CCGTCGGATGCGA																												ENST00000262498.3:c.486C>A	16.37:g.58148804G>T		110.0	0.0		70.0	4.0	NM_013242		Silent	SNP	ENST00000262498.3	37	CCDS10793.1																																																																																			.		0.483	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2		
C19orf80	55908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11352157	11352157	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:11352157C>T	ENST00000252453.8	+	3	515	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Missense_Mutation_p.L67F	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	166					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						CCTATGGGCCCTCACAGGCCA	0.642																																					p.L166F		.											.	.	.	0			c.C496T						.						9.0	12.0	11.0					19																	11352157		2091	4114	6205	SO:0001583	missense	55908	exon3			TGGGCCCTCACAG		CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"""lipasin"", ""betatrophin"""					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.496C>T	19.37:g.11352157C>T	ENSP00000252453:p.Leu166Phe	130.0	0.0		72.0	18.0	NM_018687	Q9NQZ1	Missense_Mutation	SNP	ENST00000252453.8	37	CCDS54220.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274373	0.40194	.	.	ENSG00000130173	ENST00000397785;ENST00000252453	T	0.59364	0.27	4.17	3.09	0.35607	.	0.000000	0.42821	D	0.000658	T	0.67711	0.2922	L	0.59436	1.845	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55244	-0.8171	10	0.87932	D	0	-6.3913	8.1266	0.31003	0.0:0.8834:0.0:0.1166	.	166	Q6UXH0	TD26_HUMAN	F	91;166	ENSP00000252453:L166F	ENSP00000252453:L166F	L	+	1	0	C19orf80	11213157	0.385000	0.25172	0.042000	0.18584	0.473000	0.32948	1.533000	0.36040	2.174000	0.68829	0.306000	0.20318	CTC	.		0.642	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453175.1	NM_018687	
C1orf127	148345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	11009710	11009710	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:11009710G>A	ENST00000377008.4	-	10	1206	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	C1orf127_ENST00000377004.4_Silent_p.L421L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	254	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGCCGGTGCAGGAGGTCCCGA	0.622																																					p.L421L		.											.	C1orf127	91	0			c.C1261T						.						42.0	36.0	38.0					1																	11009710		2199	4300	6499	SO:0001819	synonymous_variant	148345	exon11			GGTGCAGGAGGTC	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.760C>T	1.37:g.11009710G>A		133.0	0.0		132.0	26.0	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37																																																																																				.		0.622	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	
C2orf74	339804	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	61390252	61390252	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:61390252G>A	ENST00000432605.1	+	3	296	c.296G>A	c.(295-297)aGt>aAt	p.S99N	RP11-493E12.1_ENST00000605902.1_lincRNA|C2orf74_ENST00000426997.1_Missense_Mutation_p.S20N	NM_001143959.1	NP_001137431.1	A8MZ97	CB074_HUMAN	chromosome 2 open reading frame 74	99						integral component of membrane (GO:0016021)				endometrium(1)	1						CAGAGACAGAGTAAGGAAGTG	0.428																																					p.S99N		.											.	.	.	0			c.G296A						.						145.0	125.0	131.0					2																	61390252		692	1591	2283	SO:0001583	missense	339804	exon3			GACAGAGTAAGGA			2p15	2012-08-06			ENSG00000237651	ENSG00000237651			34439	protein-coding gene	gene with protein product							Standard	NM_001143959		Approved	LOC339804	uc010ypm.1	A8MZ97		ENST00000432605.1:c.296G>A	2.37:g.61390252G>A	ENSP00000402915:p.Ser99Asn	164.0	1.0		95.0	29.0	NM_001143959	C9JP62	Missense_Mutation	SNP	ENST00000432605.1	37		.	.	.	.	.	.	.	.	.	.	G	8.150	0.787251	0.16189	.	.	ENSG00000237651	ENST00000426997;ENST00000432605	.	.	.	5.09	-2.59	0.06209	.	.	.	.	.	T	0.16041	0.0386	N	0.11560	0.145	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.25745	-1.0123	8	0.25751	T	0.34	-0.4641	5.1616	0.15064	0.384:0.2578:0.3582:0.0	.	99	A8MZ97	CB074_HUMAN	N	20;99	.	ENSP00000398725:S20N	S	+	2	0	C2orf74	61243756	0.000000	0.05858	0.002000	0.10522	0.434000	0.31775	-0.829000	0.04415	-0.651000	0.05415	-0.291000	0.09656	AGT	.		0.428	C2orf74-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001143959	
C6orf222	389384	broad.mit.edu;bcgsc.ca	37	6	36297976	36297976	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:36297976G>T	ENST00000437635.2	-	2	669	c.492C>A	c.(490-492)caC>caA	p.H164Q		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	164										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTCGGCCGCGTGTTTCTTGT	0.637																																					p.H164Q		.											.	C6orf222	93	0			c.C492A						.						88.0	66.0	73.0					6																	36297976		2203	4300	6503	SO:0001583	missense	389384	exon2			GGCCGCGTGTTTC		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.492C>A	6.37:g.36297976G>T	ENSP00000418983:p.His164Gln	450.0	2.0		308.0	30.0	NM_001010903	B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	6.423	0.446110	0.12164	.	.	ENSG00000189325	ENST00000437635	T	0.50813	0.73	3.4	-6.8	0.01709	.	1.017540	0.07883	N	0.969872	T	0.34716	0.0907	L	0.51422	1.61	0.09310	N	1	D	0.55172	0.97	P	0.54100	0.742	T	0.54925	-0.8220	10	0.26408	T	0.33	-15.8149	20.3046	0.98621	0.1658:0.0:0.8342:0.0	.	164	P0C671	CF222_HUMAN	Q	164	ENSP00000418983:H164Q	ENSP00000418983:H164Q	H	-	3	2	C6orf222	36405954	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.733000	0.01850	-3.035000	0.00265	-1.959000	0.00480	CAC	.		0.637	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903	
C6orf165	154313	hgsc.bcm.edu;bcgsc.ca	37	6	88123541	88123541	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:88123541G>T	ENST00000507897.1	+	4	289	c.206G>T	c.(205-207)cGg>cTg	p.R69L	C6ORF165_ENST00000369562.4_Missense_Mutation_p.R69L			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	69										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGTATGACTCGGCTATTGGAT	0.318																																					p.R69L		.											C6orf165,brain,glioma,-1	C6orf165	90	0			c.G206T						.						84.0	82.0	83.0					6																	88123541		2203	4296	6499	SO:0001583	missense	154313	exon4			TGACTCGGCTATT	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.206G>T	6.37:g.88123541G>T	ENSP00000426769:p.Arg69Leu	135.0	1.0		102.0	5.0	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250606	0.80135	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.34072	1.38;1.39	5.44	4.56	0.56223	.	0.052025	0.85682	D	0.000000	T	0.47728	0.1461	M	0.73319	2.225	0.51233	D	0.99991	D;D	0.76494	0.999;0.976	D;P	0.65874	0.939;0.703	T	0.41305	-0.9516	10	0.42905	T	0.14	.	14.2545	0.66043	0.0741:0.0:0.9259:0.0	.	69;69	Q8IYR0;E1P509	CF165_HUMAN;.	L	69	ENSP00000358575:R69L;ENSP00000422494:R69L	ENSP00000358575:R69L	R	+	2	0	C6orf165	88180260	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.718000	0.61930	2.544000	0.85801	0.484000	0.47621	CGG	.		0.318	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
CABIN1	23523	hgsc.bcm.edu;bcgsc.ca	37	22	24455827	24455827	+	Splice_Site	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:24455827G>A	ENST00000398319.2	+	11	1784		c.e11+1		CABIN1_ENST00000405822.2_Splice_Site|CABIN1_ENST00000263119.5_Splice_Site	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1						cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGGAATCTGGTAGGAATCGA	0.438																																					.		.											.	CABIN1	94	0			c.1249+1G>A						.						63.0	59.0	61.0					22																	24455827		2203	4300	6503	SO:0001630	splice_region_variant	23523	exon10			AATCTGGTAGGAA	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1399+1G>A	22.37:g.24455827G>A		132.0	0.0		72.0	4.0	NM_001201429	G5E9F3|Q6PHY0|Q9Y460	Splice_Site	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729955	0.69074	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3775	0.90440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CABIN1	22785827	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.737000	0.84957	2.662000	0.90505	0.558000	0.71614	.	.		0.438	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	Intron
CENPE	1062	hgsc.bcm.edu;bcgsc.ca	37	4	104116362	104116362	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:104116362A>G	ENST00000265148.3	-	5	475	c.386T>C	c.(385-387)gTa>gCa	p.V129A	CENPE_ENST00000380026.3_Missense_Mutation_p.V129A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	129	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATGTAAGATACACGTAAGAG	0.323																																					p.V129A		.											.	CENPE	277	0			c.T386C						.						71.0	71.0	71.0					4																	104116362		2203	4292	6495	SO:0001583	missense	1062	exon5			TAAGATACACGTA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.386T>C	4.37:g.104116362A>G	ENSP00000265148:p.Val129Ala	155.0	0.0		128.0	6.0	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.017206	0.93404	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.78481	-1.18;-1.18;-1.18	5.94	5.94	0.96194	Kinesin, motor domain (4);	.	.	.	.	D	0.85885	0.5801	L	0.57536	1.79	0.80722	D	1	P;D	0.65815	0.937;0.995	P;D	0.73708	0.812;0.981	D	0.85783	0.1362	9	0.48119	T	0.1	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	129;129	Q02224-3;Q02224	.;CENPE_HUMAN	A	129	ENSP00000265148:V129A;ENSP00000369365:V129A;ENSP00000423981:V129A	ENSP00000265148:V129A	V	-	2	0	CENPE	104335811	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	8.489000	0.90461	2.275000	0.75901	0.528000	0.53228	GTA	.		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CEP170B	283638	hgsc.bcm.edu;bcgsc.ca	37	14	105349493	105349493	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:105349493C>T	ENST00000414716.3	+	8	927	c.699C>T	c.(697-699)acC>acT	p.T233T	CEP170B_ENST00000556508.1_Silent_p.T163T|CEP170B_ENST00000418279.1_Silent_p.T163T|CEP170B_ENST00000453495.1_Silent_p.T234T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	233						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGAAGGAGACCCCGCAGCCGT	0.716																																					p.T233T		.											.	.	.	0			c.C699T						.						16.0	21.0	19.0					14																	105349493		1944	4118	6062	SO:0001819	synonymous_variant	283638	exon8			GGAGACCCCGCAG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.699C>T	14.37:g.105349493C>T		105.0	0.0		70.0	4.0	NM_001112726	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																			.		0.716	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
CFH	3075	broad.mit.edu;mdanderson.org	37	1	196715034	196715034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:196715034C>A	ENST00000367429.4	+	21	3638	c.3398C>A	c.(3397-3399)tCa>tAa	p.S1133*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1133	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCAGCTTCATCAGTTGAGTAC	0.418																																					p.S1133X		.											.	CFH	566	0			c.C3398A						.						104.0	100.0	101.0					1																	196715034		2202	4280	6482	SO:0001587	stop_gained	3075	exon21			CTTCATCAGTTGA	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3398C>A	1.37:g.196715034C>A	ENSP00000356399:p.Ser1133*	709.0	1.0		919.0	112.0	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	38	6.990356	0.97987	.	.	ENSG00000000971	ENST00000367429	.	.	.	4.97	0.571	0.17352	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4489	0.11611	0.1403:0.4977:0.2751:0.0869	.	.	.	.	X	1133	.	ENSP00000356399:S1133X	S	+	2	0	CFH	194981657	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-1.217000	0.02979	0.595000	0.29777	0.549000	0.68633	TCA	.		0.418	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CIT	11113	hgsc.bcm.edu;bcgsc.ca	37	12	120214542	120214542	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:120214542T>C	ENST00000261833.7	-	14	1822	c.1770A>G	c.(1768-1770)agA>agG	p.R590R	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.R590R	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	590					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCGAGACTCTCTCAGCTCAG	0.483																																					p.R590R		.											.	CIT	399	0			c.A1770G						.						122.0	118.0	119.0					12																	120214542		2203	4300	6503	SO:0001819	synonymous_variant	11113	exon14			AGACTCTCTCAGC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1770A>G	12.37:g.120214542T>C		108.0	0.0		69.0	4.0	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502567	0.26949	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.48	1.97	0.26223	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50617	-0.8807	4	.	.	.	.	8.8949	0.35458	0.0:0.2996:0.0:0.7004	.	.	.	.	G	218	.	.	E	-	2	0	CIT	118698925	0.823000	0.29233	1.000000	0.80357	0.989000	0.77384	-0.076000	0.11412	0.419000	0.25927	0.459000	0.35465	GAG	.		0.483	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
CLDN23	137075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	8560187	8560187	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:8560187G>T	ENST00000519106.1	+	1	740	c.279G>T	c.(277-279)ctG>ctT	p.L93L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	93					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CCACGGTCCTGGGGCTTCTGC	0.716																																					p.L93L		.											.	.	.	0			c.G279T						.						11.0	15.0	14.0					8																	8560187		2160	4242	6402	SO:0001819	synonymous_variant	137075	exon1			GGTCCTGGGGCTT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.279G>T	8.37:g.8560187G>T		17.0	0.0		17.0	6.0	NM_194284	Q08AJ3	Silent	SNP	ENST00000519106.1	37	CCDS55195.1																																																																																			.		0.716	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284	
CLIP1	6249	ucsc.edu;bcgsc.ca	37	12	122773083	122773083	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:122773083T>C	ENST00000540338.1	-	20	3641	c.3600A>G	c.(3598-3600)gaA>gaG	p.E1200E	CLIP1_ENST00000358808.2_Silent_p.E1189E|CLIP1_ENST00000545889.1_Silent_p.E775E|CLIP1_ENST00000537178.1_Silent_p.E1154E|CLIP1_ENST00000302528.7_Silent_p.E1189E|CLIP1_ENST00000361654.4_Silent_p.E1078E			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1200					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATCTTTCTTCTTCCAGCTAGG	0.383																																					p.E1200E		.											.	CLIP1	155	0			c.A3600G						.						98.0	99.0	99.0					12																	122773083		2202	4298	6500	SO:0001819	synonymous_variant	6249	exon21			TTCTTCTTCCAGC		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3600A>G	12.37:g.122773083T>C		64.0	0.0		33.0	4.0	NM_001247997	A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																			.		0.383	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
COX5B	1329	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	98262581	98262581	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:98262581C>T	ENST00000258424.2	+	1	79	c.32C>T	c.(31-33)aCg>aTg	p.T11M	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	11					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						GGAGCTGGAACGCTGGCCGCG	0.682																																					p.T11M		.											.	COX5B	226	0			c.C32T						.						10.0	11.0	10.0					2																	98262581		2124	4166	6290	SO:0001583	missense	1329	exon1			CTGGAACGCTGGC	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.32C>T	2.37:g.98262581C>T	ENSP00000258424:p.Thr11Met	51.0	0.0		44.0	4.0	NM_001862	Q53YB7|Q96J18|Q99610	Missense_Mutation	SNP	ENST00000258424.2	37	CCDS2032.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532028	0.45073	.	.	ENSG00000135940	ENST00000258424	.	.	.	4.94	3.07	0.35406	.	0.432105	0.21887	N	0.067660	T	0.17619	0.0423	N	0.24115	0.695	0.09310	N	1	P	0.45672	0.864	B	0.38985	0.287	T	0.08659	-1.0711	9	0.49607	T	0.09	-39.0412	6.8554	0.24038	0.0:0.7274:0.1763:0.0963	.	11	P10606	COX5B_HUMAN	M	11	.	ENSP00000258424:T11M	T	+	2	0	COX5B	97629013	0.153000	0.22777	0.423000	0.26634	0.673000	0.39480	1.477000	0.35431	1.330000	0.45394	0.557000	0.71058	ACG	.		0.682	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862	
COL5A2	1290	hgsc.bcm.edu;bcgsc.ca	37	2	189950498	189950498	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:189950498C>T	ENST00000374866.3	-	10	965	c.691G>A	c.(691-693)Ggt>Agt	p.G231S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	231					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGCACCACCCTACAGTTGA	0.413																																					p.G231S		.											.	COL5A2	92	0			c.G691A						.						78.0	75.0	76.0					2																	189950498		2203	4300	6503	SO:0001630	splice_region_variant	1290	exon10			CACCACCCTACAG	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.691-1G>A	2.37:g.189950498C>T		56.0	0.0		55.0	4.0	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752884	0.89753	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99329	-5.75	5.99	5.99	0.97316	.	0.000000	0.56097	D	0.000040	D	0.99722	0.9892	H	0.99026	4.405	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.97362	0.9970	9	.	.	.	.	17.3945	0.87441	0.0:1.0:0.0:0.0	.	231	P05997	CO5A2_HUMAN	S	231;48	ENSP00000364000:G231S	.	G	-	1	0	COL5A2	189658743	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	3.904000	0.56325	2.840000	0.97914	0.655000	0.94253	GGT	.		0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation
CPT1B	1375	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	51011460	51011460	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:51011460A>G	ENST00000360719.2	-	11	1333	c.1196T>C	c.(1195-1197)tTc>tCc	p.F399S	CPT1B_ENST00000457250.1_Missense_Mutation_p.F365S|CPT1B_ENST00000405237.3_Missense_Mutation_p.F399S|CPT1B_ENST00000312108.7_Missense_Mutation_p.F399S|CPT1B_ENST00000434492.2_Missense_Mutation_p.F196S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Missense_Mutation_p.F399S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	399					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGAGCTAAAGAAGGCCTGGCG	0.607																																					p.F399S	Esophageal Squamous(170;988 1933 25577 30295 48163)	.											.	CPT1B	116	0			c.T1196C						.						47.0	45.0	45.0					22																	51011460		2203	4300	6503	SO:0001583	missense	1375	exon11			CTAAAGAAGGCCT	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1196T>C	22.37:g.51011460A>G	ENSP00000353945:p.Phe399Ser	62.0	0.0		42.0	4.0	NM_001145135	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823721	0.50739	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	4.98	2.69	0.31865	.	0.233858	0.45126	D	0.000392	D	0.90253	0.6952	M	0.83118	2.625	0.47621	D	0.999472	B;P;P	0.39131	0.293;0.661;0.661	B;P;B	0.45794	0.392;0.493;0.371	D	0.89351	0.3661	10	0.72032	D	0.01	-25.3512	8.4875	0.33080	0.6487:0.0:0.0:0.3513	.	365;196;399	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	S	399;399;399;365;196;399	ENSP00000385486:F399S;ENSP00000312189:F399S;ENSP00000353945:F399S;ENSP00000409342:F365S;ENSP00000410966:F196S;ENSP00000379011:F399S	ENSP00000312189:F399S	F	-	2	0	CPT1B	49358326	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.417000	0.34770	0.879000	0.35944	0.459000	0.35465	TTC	.		0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
CRIM1	51232	hgsc.bcm.edu;bcgsc.ca	37	2	36771541	36771541	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:36771541C>A	ENST00000280527.2	+	15	3013	c.2646C>A	c.(2644-2646)acC>acA	p.T882T	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	882					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAGAACCAACCAATATACCCA	0.438																																					p.T882T		.											.	CRIM1	118	0			c.C2646A						.						129.0	128.0	128.0					2																	36771541		2203	4300	6503	SO:0001819	synonymous_variant	51232	exon15			ACCAACCAATATA	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2646C>A	2.37:g.36771541C>A		119.0	0.0		90.0	5.0	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																			.		0.438	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
CSRNP1	64651	hgsc.bcm.edu;bcgsc.ca	37	3	39184689	39184689	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:39184689A>G	ENST00000273153.5	-	5	1804	c.1627T>C	c.(1627-1629)Tct>Cct	p.S543P	CSRNP1_ENST00000514182.1_Missense_Mutation_p.S543P	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	543					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCAGGTGGAGACAGGCCAGGC	0.582																																					p.S543P		.											.	CSRNP1	230	0			c.T1627C						.						54.0	62.0	59.0					3																	39184689		2203	4300	6503	SO:0001583	missense	64651	exon5			GTGGAGACAGGCC	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1627T>C	3.37:g.39184689A>G	ENSP00000273153:p.Ser543Pro	130.0	0.0		77.0	4.0	NM_033027	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	A	8.905	0.957241	0.18507	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.41758	0.99;0.99	4.65	3.49	0.39957	.	0.237331	0.34986	N	0.003524	T	0.25158	0.0611	L	0.31207	0.915	0.25613	N	0.986484	B	0.06786	0.001	B	0.08055	0.003	T	0.11470	-1.0586	10	0.29301	T	0.29	-13.9666	3.821	0.08836	0.5753:0.1889:0.2358:0.0	.	543	Q96S65	CSRN1_HUMAN	P	543;543;201	ENSP00000273153:S543P;ENSP00000422532:S543P	ENSP00000273153:S543P	S	-	1	0	CSRNP1	39159693	1.000000	0.71417	0.434000	0.26772	0.291000	0.27294	5.797000	0.69087	0.882000	0.36016	0.533000	0.62120	TCT	.		0.582	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
CYLC2	1539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	105767561	105767561	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:105767561T>C	ENST00000374798.3	+	5	718	c.648T>C	c.(646-648)gaT>gaC	p.D216D	CYLC2_ENST00000487798.1_Silent_p.D216D	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	216	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAGAGAAAGATAGCAAAAAAG	0.363																																					p.D216D		.											.	CYLC2	91	0			c.T648C						.						83.0	80.0	81.0					9																	105767561		2203	4300	6503	SO:0001819	synonymous_variant	1539	exon5			GAAAGATAGCAAA	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.648T>C	9.37:g.105767561T>C		1067.0	0.0		724.0	183.0	NM_001340	B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	CCDS35085.1																																																																																			.		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
CYP27A1	1593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	219674345	219674345	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:219674345G>A	ENST00000258415.4	+	2	728	c.301G>A	c.(301-303)Ggg>Agg	p.G101R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	101					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GTCCTACTTAGGGCCTCAGAT	0.547																																					p.G101R		.											.	CYP27A1	91	0			c.G301A						.						146.0	130.0	136.0					2																	219674345		2203	4300	6503	SO:0001583	missense	1593	exon2			TACTTAGGGCCTC	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.301G>A	2.37:g.219674345G>A	ENSP00000258415:p.Gly101Arg	70.0	0.0		75.0	20.0	NM_000784	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237492	0.79800	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.73789	-0.78;-0.78	5.67	4.76	0.60689	.	0.300622	0.34291	N	0.004081	D	0.85452	0.5700	M	0.82056	2.57	0.58432	D	0.999999	D	0.59357	0.985	D	0.64776	0.929	D	0.86770	0.1972	10	0.59425	D	0.04	-23.2629	15.7687	0.78146	0.0:0.1358:0.8642:0.0	.	101	Q02318	CP27A_HUMAN	R	101;7	ENSP00000258415:G101R;ENSP00000392671:G7R	ENSP00000258415:G101R	G	+	1	0	CYP27A1	219382589	1.000000	0.71417	0.056000	0.19401	0.012000	0.07955	7.895000	0.87343	2.677000	0.91161	0.655000	0.94253	GGG	.		0.547	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
CYTH1	9267	hgsc.bcm.edu;bcgsc.ca	37	17	76695035	76695035	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:76695035A>G	ENST00000446868.3	-	8	636	c.566T>C	c.(565-567)cTc>cCc	p.L189P	RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000585509.1_Missense_Mutation_p.L130P|CYTH1_ENST00000591455.1_Missense_Mutation_p.L189P|CYTH1_ENST00000589297.1_Missense_Mutation_p.L130P|CYTH1_ENST00000361101.4_Missense_Mutation_p.L189P|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	189	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GGCAAAGGAGAGGACGTAACA	0.473																																					p.L189P		.											.	CYTH1	228	0			c.T566C						.						210.0	204.0	206.0					17																	76695035		2203	4300	6503	SO:0001583	missense	9267	exon8			AAGGAGAGGACGT	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.566T>C	17.37:g.76695035A>G	ENSP00000389095:p.Leu189Pro	220.0	0.0		157.0	7.0	NM_017456	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.288528	0.80914	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.55234	0.53;0.53	5.24	5.24	0.73138	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91869	0.5506	10	0.87932	D	0	.	15.1351	0.72558	1.0:0.0:0.0:0.0	.	189;189	Q15438;Q15438-2	CYH1_HUMAN;.	P	189;189;130;130;189;26	ENSP00000389095:L189P;ENSP00000354398:L189P	ENSP00000262763:L189P	L	-	2	0	CYTH1	74206630	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.205000	0.95048	1.958000	0.56883	0.482000	0.46254	CTC	.		0.473	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	
DAO	1610	hgsc.bcm.edu;bcgsc.ca	37	12	109294259	109294259	+	Missense_Mutation	SNP	G	G	A	rs4262766		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:109294259G>A	ENST00000228476.3	+	11	1196	c.992G>A	c.(991-993)gGg>gAg	p.G331E	DAO_ENST00000551281.1_Missense_Mutation_p.G265E	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	331					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AAGCTCTTTGGGAGAATCCTG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18115	0.0		0.0	False		,,,				2504	0.0				p.G331E		.											.	DAO	92	0			c.G992A						.	G	GLU/GLY	4,4402	8.1+/-20.4	0,4,2199	106.0	92.0	96.0		992	4.7	1.0	12	dbSNP_111	96	0,8600		0,0,4300	yes	missense	DAO	NM_001917.4	98	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	331/348	109294259	4,13002	2203	4300	6503	SO:0001583	missense	1610	exon11			TCTTTGGGAGAAT	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.992G>A	12.37:g.109294259G>A	ENSP00000228476:p.Gly331Glu	81.0	0.0		70.0	4.0	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565198	0.45694	9.08E-4	0.0	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.39787	1.06;1.06	4.73	4.73	0.59995	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	L	0.31371	0.925	0.80722	D	1	D;P	0.60575	0.988;0.832	P;P	0.59889	0.865;0.485	T	0.19418	-1.0306	10	0.05721	T	0.95	-23.3625	15.2271	0.73359	0.0:0.0:1.0:0.0	.	331;314	P14920;Q7Z312	OXDA_HUMAN;.	E	265;331	ENSP00000446853:G265E;ENSP00000228476:G331E	ENSP00000228476:G331E	G	+	2	0	DAO	107818388	1.000000	0.71417	0.975000	0.42487	0.801000	0.45260	8.866000	0.92307	2.169000	0.68431	0.561000	0.74099	GGG	G|1.000;A|0.000		0.557	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
DCHS2	54798	hgsc.bcm.edu;bcgsc.ca	37	4	155180908	155180908	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:155180908C>T	ENST00000357232.4	-	20	5212	c.5213G>A	c.(5212-5214)gGa>gAa	p.G1738E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1738	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTGAGTTGTCCTATTTTTAT	0.313																																					p.G1738E		.											.	DCHS2	94	0			c.G5213A						.						52.0	51.0	51.0					4																	155180908		2202	4300	6502	SO:0001630	splice_region_variant	54798	exon20			AGTTGTCCTATTT	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5213-1G>A	4.37:g.155180908C>T		98.0	0.0		61.0	4.0	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193765	0.78902	.	.	ENSG00000197410	ENST00000357232	T	0.57107	0.42	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81683	0.4874	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86719	0.1941	10	0.87932	D	0	.	18.5738	0.91147	0.0:1.0:0.0:0.0	.	1738	Q6V1P9	PCD23_HUMAN	E	1738	ENSP00000349768:G1738E	ENSP00000349768:G1738E	G	-	2	0	DCHS2	155400358	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.690000	0.68241	2.760000	0.94817	0.655000	0.94253	GGA	.		0.313	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	Missense_Mutation
DDX6	1656	hgsc.bcm.edu;bcgsc.ca	37	11	118626140	118626140	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:118626140T>C	ENST00000526070.2	-	12	1607	c.1247A>G	c.(1246-1248)gAg>gGg	p.E416G	DDX6_ENST00000264018.4_Missense_Mutation_p.E416G|DDX6_ENST00000534980.1_Missense_Mutation_p.E416G	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	416	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GAGATAGGTCTCTGCCAGCTT	0.338			T	IGH@	B-NHL																																p.E416G		.		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	DDX6	659	0			c.A1247G						.						90.0	86.0	87.0					11																	118626140		1821	4082	5903	SO:0001583	missense	1656	exon12			TAGGTCTCTGCCA	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1247A>G	11.37:g.118626140T>C	ENSP00000433704:p.Glu416Gly	142.0	0.0		86.0	5.0	NM_004397	Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.915438	0.92178	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.76448	-1.02;-1.02;-1.02	5.46	5.46	0.80206	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90845	0.4726	10	0.87932	D	0	.	15.5001	0.75691	0.0:0.0:0.0:1.0	.	416	P26196	DDX6_HUMAN	G	416	ENSP00000264018:E416G;ENSP00000442266:E416G;ENSP00000433704:E416G	ENSP00000264018:E416G	E	-	2	0	DDX6	118131350	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.950000	0.87804	2.199000	0.70637	0.528000	0.53228	GAG	.		0.338	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
DGKG	1608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	185970912	185970912	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:185970912C>T	ENST00000265022.3	-	18	2109	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	DGKG_ENST00000382164.4_Missense_Mutation_p.D485N|DGKG_ENST00000344484.4_Missense_Mutation_p.D499N|DGKG_ENST00000544847.1_Missense_Mutation_p.D465N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	524	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGGGCAAGGTCATTTCCTGTT	0.522																																					p.D524N		.											.	DGKG	714	0			c.G1570A						.						173.0	133.0	147.0					3																	185970912		2203	4300	6503	SO:0001583	missense	1608	exon18			CAAGGTCATTTCC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1570G>A	3.37:g.185970912C>T	ENSP00000265022:p.Asp524Asn	111.0	0.0		69.0	7.0	NM_001346	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469173	0.96274	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.53423	0.62;0.64;0.62;0.62	4.97	4.97	0.65823	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.86651	2.83	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	0.78437	-0.2204	10	0.87932	D	0	.	17.5152	0.87771	0.0:1.0:0.0:0.0	.	465;499;485;524	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	N	524;499;485;465;488	ENSP00000265022:D524N;ENSP00000339777:D499N;ENSP00000371599:D485N;ENSP00000440507:D465N	ENSP00000265022:D524N	D	-	1	0	DGKG	187453606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.742000	0.94016	0.655000	0.94253	GAC	.		0.522	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
DHTKD1	55526	hgsc.bcm.edu;bcgsc.ca	37	10	12160885	12160885	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:12160885A>G	ENST00000263035.4	+	15	2602	c.2540A>G	c.(2539-2541)cAg>cGg	p.Q847R	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	847					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GATTCTTTACAGCAAGAGATG	0.428																																					p.Q847R		.											.	DHTKD1	515	0			c.A2540G						.						137.0	133.0	134.0					10																	12160885		2203	4300	6503	SO:0001583	missense	55526	exon15			CTTTACAGCAAGA	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2540A>G	10.37:g.12160885A>G	ENSP00000263035:p.Gln847Arg	106.0	0.0		74.0	4.0	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187218	0.38609	.	.	ENSG00000181192	ENST00000263035	T	0.04758	3.56	5.09	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	N	0.20574	0.59	0.58432	D	0.999999	B	0.12013	0.005	B	0.22880	0.042	T	0.40794	-0.9544	10	0.59425	D	0.04	-6.0727	10.788	0.46415	0.9246:0.0:0.0754:0.0	.	847	Q96HY7	DHTK1_HUMAN	R	847	ENSP00000263035:Q847R	ENSP00000263035:Q847R	Q	+	2	0	DHTKD1	12200891	1.000000	0.71417	0.125000	0.21846	0.905000	0.53344	8.867000	0.92314	0.889000	0.36185	0.379000	0.24179	CAG	.		0.428	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
DHX57	90957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	39042772	39042772	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:39042772A>T	ENST00000295373.6	-	20	3623	c.3497T>A	c.(3496-3498)tTc>tAc	p.F1166Y		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1166							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CAGTTCCGTGAATTGTCGTTT	0.438																																					p.F1166Y	Melanoma(191;1090 2095 4375 23729 47341)	.											.	DHX57	228	0			c.T3497A						.						141.0	133.0	136.0					2																	39042772		2203	4300	6503	SO:0001583	missense	90957	exon20			TCCGTGAATTGTC	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3497T>A	2.37:g.39042772A>T	ENSP00000295373:p.Phe1166Tyr	159.0	0.0		95.0	13.0	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294992	0.60086	.	.	ENSG00000163214	ENST00000295373	T	0.03035	4.07	5.29	5.29	0.74685	Domain of unknown function DUF1605 (1);	0.000000	0.56097	D	0.000026	T	0.09423	0.0232	L	0.28054	0.825	0.80722	D	1	D;B	0.76494	0.999;0.309	D;B	0.80764	0.994;0.23	T	0.50642	-0.8804	10	0.22109	T	0.4	.	15.5408	0.76043	1.0:0.0:0.0:0.0	.	1166;558	Q6P158;Q59G60	DHX57_HUMAN;.	Y	1166	ENSP00000295373:F1166Y	ENSP00000295373:F1166Y	F	-	2	0	DHX57	38896276	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	8.843000	0.92142	2.120000	0.65058	0.460000	0.39030	TTC	.		0.438	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
DKK1	22943	hgsc.bcm.edu;bcgsc.ca	37	10	54074421	54074421	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:54074421C>A	ENST00000373970.3	+	1	366	c.227C>A	c.(226-228)aCc>aAc	p.T76N	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	76					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AAGTACCAGACCATTGACAAC	0.622											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T76N		.											.	DKK1	1083	0			c.C227A						.						26.0	30.0	29.0					10																	54074421		2202	4297	6499	SO:0001583	missense	22943	exon1			ACCAGACCATTGA		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.227C>A	10.37:g.54074421C>A	ENSP00000363081:p.Thr76Asn	117.0	0.0	997	52.0	4.0	NM_012242	B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	6.446	0.450341	0.12223	.	.	ENSG00000107984	ENST00000373970	T	0.44083	0.93	4.49	3.57	0.40892	.	0.767169	0.11791	N	0.529223	T	0.29158	0.0725	N	0.24115	0.695	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.18871	-1.0323	10	0.24483	T	0.36	-12.0254	10.7985	0.46474	0.0:0.8076:0.1924:0.0	.	76	O94907	DKK1_HUMAN	N	76	ENSP00000363081:T76N	ENSP00000363081:T76N	T	+	2	0	DKK1	53744427	0.001000	0.12720	0.251000	0.24312	0.555000	0.35460	0.784000	0.26816	0.992000	0.38840	0.655000	0.94253	ACC	.		0.622	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1		
DLK2	65989	hgsc.bcm.edu;bcgsc.ca	37	6	43419708	43419708	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:43419708T>C	ENST00000357338.3	-	5	1086	c.386A>G	c.(385-387)gAg>gGg	p.E129G	DLK2_ENST00000372485.1_Missense_Mutation_p.E123G|DLK2_ENST00000414245.1_Missense_Mutation_p.E123G|DLK2_ENST00000372488.3_Missense_Mutation_p.E129G	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	129	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGCCTTGCGCTCGCAGTCACG	0.597																																					p.E129G		.											.	DLK2	68	0			c.A386G						.						114.0	81.0	92.0					6																	43419708		2203	4300	6503	SO:0001583	missense	65989	exon5			TTGCGCTCGCAGT	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.386A>G	6.37:g.43419708T>C	ENSP00000349893:p.Glu129Gly	83.0	0.0		49.0	4.0	NM_023932	B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.163986|4.163986	0.78339|0.78339	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245|ENST00000430324	D;D;D;D|.	0.87729|.	-2.29;-2.29;-2.29;-2.29|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.069823|.	0.64402|.	D|.	0.000012|.	T|T	0.69611|0.69611	0.3130|0.3130	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.76494|.	0.999|.	D|.	0.63597|.	0.916|.	T|T	0.73116|0.73116	-0.4084|-0.4084	10|5	0.87932|.	D|.	0|.	.|.	14.1435|14.1435	0.65334|0.65334	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	129|.	Q6UY11|.	DLK2_HUMAN|.	G|G	123;129;129;129;123|35	ENSP00000361563:E123G;ENSP00000361566:E129G;ENSP00000349893:E129G;ENSP00000398906:E123G|.	ENSP00000349893:E129G|.	E|S	-|-	2|1	0|0	DLK2|DLK2	43527686|43527686	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	4.898000|4.898000	0.63238|0.63238	1.990000|1.990000	0.58119|0.58119	0.374000|0.374000	0.22700|0.22700	GAG|AGC	.		0.597	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932	
DNAH3	55567	hgsc.bcm.edu;bcgsc.ca	37	16	20974803	20974803	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:20974803T>C	ENST00000261383.3	-	53	10402	c.10403A>G	c.(10402-10404)cAa>cGa	p.Q3468R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3468					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCAATCCTTGAGAGAACTT	0.512																																					p.Q3468R		.											.	DNAH3	167	0			c.A10403G						.						89.0	73.0	78.0					16																	20974803		2201	4300	6501	SO:0001583	missense	55567	exon53			AATCCTTGAGAGA	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10403A>G	16.37:g.20974803T>C	ENSP00000261383:p.Gln3468Arg	99.0	0.0		78.0	4.0	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.559554	0.00910	.	.	ENSG00000158486	ENST00000261383	T	0.08193	3.12	5.39	3.08	0.35506	Dynein heavy chain (1);	1.297190	0.04812	N	0.435494	T	0.07954	0.0199	N	0.11927	0.2	0.09310	N	1	B	0.16603	0.018	B	0.23716	0.048	T	0.48328	-0.9045	10	0.42905	T	0.14	.	13.395	0.60846	0.0:0.0:0.4622:0.5378	.	3468	Q8TD57	DYH3_HUMAN	R	3468	ENSP00000261383:Q3468R	ENSP00000261383:Q3468R	Q	-	2	0	DNAH3	20882304	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.078000	0.14761	0.327000	0.23409	0.460000	0.39030	CAA	.		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNTTIP2	30836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	94342288	94342288	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:94342288T>C	ENST00000436063.2	-	2	1260	c.1203A>G	c.(1201-1203)gaA>gaG	p.E401E	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTGTGGACTCTTCTTCATCAT	0.413																																					p.E401E		.											.	.	.	0			c.A1203G						.						280.0	268.0	272.0					1																	94342288		1968	4144	6112	SO:0001819	synonymous_variant	30836	exon2			GGACTCTTCTTCA	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1203A>G	1.37:g.94342288T>C		850.0	0.0		547.0	135.0	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	CCDS44174.1																																																																																			.		0.413	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
DOCK2	1794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	169508908	169508908	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:169508908A>G	ENST00000256935.8	+	51	5430	c.5350A>G	c.(5350-5352)Agc>Ggc	p.S1784G	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S845G|DOCK2_ENST00000520908.1_Missense_Mutation_p.S1276G	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1784					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCCGCCTCAGCCAGACCTT	0.562																																					p.S1784G		.											.	DOCK2	97	0			c.A5350G						.						106.0	96.0	99.0					5																	169508908		2203	4300	6503	SO:0001583	missense	1794	exon51			CGCCTCAGCCAGA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5350A>G	5.37:g.169508908A>G	ENSP00000256935:p.Ser1784Gly	126.0	0.0		95.0	30.0	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450522	0.63290	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10005	3.59;3.22;2.92	4.84	4.84	0.62591	.	0.196350	0.50627	D	0.000120	T	0.17323	0.0416	N	0.19112	0.55	0.29865	N	0.82731	D;D;D	0.69078	0.982;0.997;0.982	D;D;D	0.75020	0.952;0.985;0.952	T	0.04128	-1.0975	10	0.32370	T	0.25	.	12.6806	0.56920	1.0:0.0:0.0:0.0	.	1276;340;1784	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	G	1784;1276;845	ENSP00000256935:S1784G;ENSP00000429283:S1276G;ENSP00000438827:S845G	ENSP00000256935:S1784G	S	+	1	0	DOCK2	169441486	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.461000	0.66699	1.919000	0.55581	0.533000	0.62120	AGC	.		0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DUSP2	1844	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	96809608	96809608	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:96809608A>C	ENST00000288943.4	-	4	984	c.899T>G	c.(898-900)tTc>tGc	p.F300C	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	300	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTGCCCCATGAAACTGAAGTT	0.612																																					p.F300C		.											.	DUSP2	658	0			c.T899G						.						39.0	38.0	38.0					2																	96809608		2203	4300	6503	SO:0001583	missense	1844	exon4			CCCATGAAACTGA	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.899T>G	2.37:g.96809608A>C	ENSP00000288943:p.Phe300Cys	243.0	1.0		179.0	45.0	NM_004418	Q53T45	Missense_Mutation	SNP	ENST00000288943.4	37	CCDS2016.1	.	.	.	.	.	.	.	.	.	.	a	24.3	4.518441	0.85495	.	.	ENSG00000158050	ENST00000288943	D	0.90261	-2.64	4.29	4.29	0.51040	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.99764	4.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97764	1.0222	10	0.87932	D	0	.	11.7539	0.51863	1.0:0.0:0.0:0.0	.	300	Q05923	DUS2_HUMAN	C	300	ENSP00000288943:F300C	ENSP00000288943:F300C	F	-	2	0	DUSP2	96173335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.054000	0.93866	1.954000	0.56735	0.450000	0.29827	TTC	.		0.612	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418	
DZANK1	55184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	20	18407716	18407716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:18407716G>A	ENST00000358866.6	-	9	971	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	DZANK1_ENST00000262547.5_Nonsense_Mutation_p.Q317*|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000357236.4_Nonsense_Mutation_p.Q203*|DZANK1_ENST00000329494.5_Nonsense_Mutation_p.Q319*			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	317							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCTACCTCTTGTGATGAAGGC	0.468																																					p.Q317X		.											.	.	.	0			c.C949T						.						64.0	66.0	65.0					20																	18407716		1893	4116	6009	SO:0001587	stop_gained	55184	exon10			CCTCTTGTGATGA	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.949C>T	20.37:g.18407716G>A	ENSP00000351734:p.Gln317*	98.0	0.0		75.0	18.0	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Nonsense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	G	37	6.180095	0.97352	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	.	.	.	5.63	0.645	0.17782	.	1.457470	0.03627	N	0.237380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.4985	6.7012	0.23227	0.0899:0.0:0.4749:0.4352	.	.	.	.	X	144;317;319;143;143;203	.	ENSP00000262547:Q317X	Q	-	1	0	C20orf12	18355716	0.806000	0.28996	0.012000	0.15200	0.376000	0.30014	1.083000	0.30815	0.259000	0.21709	0.655000	0.94253	CAA	.		0.468	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
EFCAB13	124989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	45451912	45451912	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:45451912A>C	ENST00000331493.2	+	12	1363	c.952A>C	c.(952-954)Aaa>Caa	p.K318Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K222Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	318						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ATGCTATCTAAAATATAAGAA	0.279																																					p.K318Q		.											.	.	.	0			c.A952C						.						29.0	33.0	32.0					17																	45451912		2184	4253	6437	SO:0001583	missense	124989	exon12			TATCTAAAATATA	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.952A>C	17.37:g.45451912A>C	ENSP00000332111:p.Lys318Gln	304.0	0.0		160.0	45.0	NM_152347	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	1.988	-0.432530	0.04669	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.62105	0.41;0.05	3.09	0.885	0.19188	.	0.652062	0.13910	N	0.354315	T	0.27205	0.0667	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24190	-1.0167	10	0.31617	T	0.26	-18.3861	7.802	0.29180	0.4552:0.5448:0.0:0.0	.	270;318;222	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	Q	318;222;270	ENSP00000332111:K318Q;ENSP00000430048:K222Q	ENSP00000332111:K318Q	K	+	1	0	C17orf57	42806911	0.001000	0.12720	0.001000	0.08648	0.118000	0.20060	0.460000	0.21924	0.113000	0.18004	-0.261000	0.10672	AAA	.		0.279	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
EFCAB13	124989	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	45451924	45451924	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:45451924A>C	ENST00000331493.2	+	12	1375	c.964A>C	c.(964-966)Aaa>Caa	p.K322Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K226Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	322						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ATATAAGAAGAAAAATAGTTT	0.299																																					p.K322Q		.											.	.	.	0			c.A964C						.						28.0	32.0	31.0					17																	45451924		2194	4254	6448	SO:0001583	missense	124989	exon12			AAGAAGAAAAATA	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.964A>C	17.37:g.45451924A>C	ENSP00000332111:p.Lys322Gln	336.0	1.0		167.0	45.0	NM_152347	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856017	0.51376	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.76709	-0.66;-1.04	3.88	2.76	0.32466	.	0.826278	0.10318	N	0.689098	T	0.79592	0.4472	L	0.43152	1.355	0.09310	N	1	D;P;D	0.61697	0.99;0.95;0.971	P;P;P	0.59487	0.858;0.605;0.775	T	0.65405	-0.6176	10	0.72032	D	0.01	-17.1041	6.2707	0.20953	0.882:0.0:0.118:0.0	.	274;322;226	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	Q	322;226;274	ENSP00000332111:K322Q;ENSP00000430048:K226Q	ENSP00000332111:K322Q	K	+	1	0	C17orf57	42806923	0.940000	0.31905	0.004000	0.12327	0.112000	0.19704	2.123000	0.41996	0.612000	0.30071	0.477000	0.44152	AAA	.		0.299	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
EHBP1L1	254102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	65349836	65349836	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:65349836G>A	ENST00000309295.4	+	9	1958	c.1693G>A	c.(1693-1695)Ggg>Agg	p.G565R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	565	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCAGAAGCTGGGGGTTCAGG	0.607																																					p.G565R		.											.	EHBP1L1	69	0			c.G1693A						.						18.0	20.0	19.0					11																	65349836		1862	4086	5948	SO:0001583	missense	254102	exon9			GAAGCTGGGGGTT	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1693G>A	11.37:g.65349836G>A	ENSP00000312671:p.Gly565Arg	50.0	0.0		39.0	9.0	NM_001099409	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872483	0.51695	.	.	ENSG00000173442	ENST00000309295	T	0.68181	-0.31	5.16	2.21	0.28008	.	0.495552	0.17197	N	0.183269	T	0.51075	0.1653	L	0.36672	1.1	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.47898	-0.9081	10	0.87932	D	0	.	4.502	0.11869	0.1709:0.0:0.5245:0.3046	.	565	Q8N3D4	EH1L1_HUMAN	R	565	ENSP00000312671:G565R	ENSP00000312671:G565R	G	+	1	0	EHBP1L1	65106412	0.000000	0.05858	0.029000	0.17559	0.036000	0.12997	0.357000	0.20199	0.559000	0.29153	0.655000	0.94253	GGG	.		0.607	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	
EIF4ENIF1	56478	hgsc.bcm.edu;bcgsc.ca	37	22	31851919	31851919	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:31851919A>G	ENST00000397525.1	-	8	1241	c.1018T>C	c.(1018-1020)Tgg>Cgg	p.W340R	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.W177R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.W340R|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.W19R|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.W340R	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	340						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTAGAGAACCACCTACTGAAC	0.438											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.W340R		.											.	EIF4ENIF1	91	0			c.T1018C						.						101.0	93.0	96.0					22																	31851919		2203	4300	6503	SO:0001583	missense	56478	exon8			AGAACCACCTACT	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1018T>C	22.37:g.31851919A>G	ENSP00000380659:p.Trp340Arg	129.0	0.0	828	104.0	5.0	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501269	0.85176	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	T	0.78209	-0.2293	9	0.48119	T	0.1	-7.6038	14.3816	0.66914	1.0:0.0:0.0:0.0	.	177;340;177;340	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	R	177;340;340;340;19;340	.	ENSP00000328103:W340R	W	-	1	0	EIF4ENIF1	30181919	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.561000	0.90715	2.326000	0.78906	0.533000	0.62120	TGG	.		0.438	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
EML3	256364	hgsc.bcm.edu;bcgsc.ca	37	11	62375693	62375693	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:62375693T>C	ENST00000394773.2	-	10	1493	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V	RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000494176.2_Missense_Mutation_p.M368V|EML3_ENST00000278845.4_Missense_Mutation_p.M397V|EML3_ENST00000529309.1_Missense_Mutation_p.M396V|EML3_ENST00000531557.1_Missense_Mutation_p.M179V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	396						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCCAGCTTCATTCCCCGGCTG	0.577																																					p.M396V		.											.	EML3	91	0			c.A1186G						.						226.0	234.0	231.0					11																	62375693		2202	4299	6501	SO:0001583	missense	256364	exon10			GCTTCATTCCCCG	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1186A>G	11.37:g.62375693T>C	ENSP00000378254:p.Met396Val	104.0	0.0		59.0	4.0	NM_153265	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.135|5.135	0.210565|0.210565	0.09757|0.09757	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.40756|.	1.11;1.11;1.02;1.02;1.02|.	5.92|5.92	-2.11|-2.11	0.07187|0.07187	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.416774|.	0.27219|.	N|.	0.020378|.	T|T	0.10809|0.10809	0.0264|0.0264	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.32370|.	T|.	0.25|.	-16.4808|-16.4808	12.8237|12.8237	0.57708|0.57708	0.0:0.4:0.0:0.6|0.0:0.4:0.0:0.6	.|.	396;396;179;397;368|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	V|S	396;397;179;368;396|390	ENSP00000378254:M396V;ENSP00000278845:M397V;ENSP00000433417:M179V;ENSP00000435064:M368V;ENSP00000434513:M396V|.	ENSP00000278845:M397V|.	M|N	-|-	1|2	0|0	EML3|EML3	62132269|62132269	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.889000|0.889000	0.51656|0.51656	0.119000|0.119000	0.15626|0.15626	-0.640000|-0.640000	0.05495|0.05495	-1.773000|-1.773000	0.00660|0.00660	ATG|AAT	.		0.577	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265	
EPG5	57724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	43528527	43528527	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:43528527T>C	ENST00000282041.5	-	6	1547	c.1513A>G	c.(1513-1515)Aac>Gac	p.N505D		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	505					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTGATGGGTTATGCAACACT	0.393																																					p.N505D		.											.	EPG5	580	0			c.A1513G						.						78.0	71.0	73.0					18																	43528527		1828	4103	5931	SO:0001583	missense	57724	exon6			ATGGGTTATGCAA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1513A>G	18.37:g.43528527T>C	ENSP00000282041:p.Asn505Asp	75.0	0.0		46.0	10.0	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469695	0.63625	.	.	ENSG00000152223	ENST00000282041	T	0.80653	-1.4	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	L	0.47716	1.5	0.45621	D	0.998559	P;P	0.52316	0.952;0.873	P;B	0.49085	0.6;0.385	T	0.83339	-0.0009	10	0.66056	D	0.02	-17.2537	15.4578	0.75330	0.0:0.0:0.0:1.0	.	505;505	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	D	505	ENSP00000282041:N505D	ENSP00000282041:N505D	N	-	1	0	EPG5	41782525	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.934000	0.70138	2.053000	0.61076	0.460000	0.39030	AAC	.		0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
EVPL	2125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	74014678	74014678	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:74014678G>T	ENST00000301607.3	-	12	1541	c.1288C>A	c.(1288-1290)Cag>Aag	p.Q430K	EVPL_ENST00000586740.1_Missense_Mutation_p.Q430K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	430	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCAGCAGCTGCACCTGGGGG	0.672																																					p.Q430K		.											.	EVPL	93	0			c.C1288A						.						18.0	21.0	20.0					17																	74014678		2201	4293	6494	SO:0001583	missense	2125	exon12			GCAGCTGCACCTG	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1288C>A	17.37:g.74014678G>T	ENSP00000301607:p.Gln430Lys	199.0	0.0		140.0	41.0	NM_001988	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498783	0.44455	.	.	ENSG00000167880	ENST00000301607	T	0.75938	-0.98	5.12	5.12	0.69794	.	0.133205	0.53938	D	0.000050	T	0.78553	0.4301	M	0.66939	2.045	0.36532	D	0.870778	P;P	0.52842	0.836;0.956	B;P	0.47528	0.346;0.549	D	0.83484	0.0066	10	0.48119	T	0.1	-45.9129	18.9474	0.92627	0.0:0.0:1.0:0.0	.	430;430	B7ZLH8;Q92817	.;EVPL_HUMAN	K	430	ENSP00000301607:Q430K	ENSP00000301607:Q430K	Q	-	1	0	EVPL	71526273	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	6.470000	0.73558	2.573000	0.86826	0.561000	0.74099	CAG	.		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
EVX2	344191	hgsc.bcm.edu;bcgsc.ca	37	2	176948503	176948503	+	Start_Codon_SNP	SNP	A	A	G	rs375658297		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:176948503A>G	ENST00000308618.4	-	1	138	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	1					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTTCCATCATCTCAGCTTT	0.502													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17048	0.0		0.0	False		,,,				2504	0.0				p.M1T		.											.	EVX2	70	0			c.T2C						.	A	THR/MET	2,4404		0,2,2201	60.0	67.0	65.0		2	5.4	1.0	2		65	0,8600		0,0,4300	no	missense	EVX2	NM_001080458.1	81	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	possibly-damaging	1/477	176948503	2,13004	2203	4300	6503	SO:0001582	initiator_codon_variant	344191	exon1			TCCATCATCTCAG		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.2T>C	2.37:g.176948503A>G	ENSP00000312385:p.Met1Thr	179.0	0.0		83.0	4.0	NM_001080458		Missense_Mutation	SNP	ENST00000308618.4	37	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948898	0.53186	4.54E-4	0.0	ENSG00000174279	ENST00000308618	D	0.92699	-3.09	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	.	.	.	0.80722	D	1	D	0.55800	0.973	P	0.61201	0.885	D	0.95865	0.8886	9	0.87932	D	0	-21.6336	15.6681	0.77247	1.0:0.0:0.0:0.0	.	1	Q03828	EVX2_HUMAN	T	1	ENSP00000312385:M1T	ENSP00000312385:M1T	M	-	2	0	EVX2	176656749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.764000	0.68826	2.288000	0.76882	0.533000	0.62120	ATG	.		0.502	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1		Missense_Mutation
EXOC4	60412	hgsc.bcm.edu;bcgsc.ca	37	7	133692446	133692446	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:133692446T>C	ENST00000253861.4	+	17	2574	c.2545T>C	c.(2545-2547)Tcc>Ccc	p.S849P	EXOC4_ENST00000545148.1_Missense_Mutation_p.S459P|EXOC4_ENST00000539845.1_Missense_Mutation_p.S748P|EXOC4_ENST00000541309.1_Missense_Mutation_p.S137P	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	849					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CCACCTGATCTCCTGCATCCT	0.488																																					p.S849P		.											.	EXOC4	159	0			c.T2545C						.						63.0	53.0	56.0					7																	133692446		2203	4300	6503	SO:0001583	missense	60412	exon17			CTGATCTCCTGCA	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2545T>C	7.37:g.133692446T>C	ENSP00000253861:p.Ser849Pro	129.0	0.0		81.0	4.0	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145485	0.77888	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.55481	1.735	0.80722	D	1	P;D;D	0.67145	0.898;0.987;0.996	B;P;P	0.55713	0.434;0.782;0.731	T	0.59279	-0.7484	9	0.30078	T	0.28	.	11.846	0.52385	0.0:0.0:0.1466:0.8534	.	381;459;849	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	P	849;468;748;459;137	.	ENSP00000253861:S849P	S	+	1	0	EXOC4	133342986	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.227000	0.78070	0.894000	0.36317	-0.438000	0.05819	TCC	.		0.488	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
ABHD17B	51104	hgsc.bcm.edu;bcgsc.ca	37	9	74485072	74485072	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:74485072A>G	ENST00000333421.6	-	3	685	c.574T>C	c.(574-576)Tct>Cct	p.S192P	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192P	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	192						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GTCAGAGGAGAATGAAGAATA	0.413																																					p.S192P		.											.	FAM108B1	90	0			c.T574C						.						163.0	149.0	153.0					9																	74485072		2203	4300	6503	SO:0001583	missense	51104	exon3			GAGGAGAATGAAG	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.574T>C	9.37:g.74485072A>G	ENSP00000330222:p.Ser192Pro	184.0	0.0		94.0	4.0	NM_016014	A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634537	0.87660	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.51574	0.7;0.7	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.90423	0.4418	10	0.87932	D	0	-12.9451	15.6113	0.76721	1.0:0.0:0.0:0.0	.	192;192	Q5VST6;Q5VST6-2	F108B_HUMAN;.	P	192	ENSP00000366240:S192P;ENSP00000330222:S192P	ENSP00000330222:S192P	S	-	1	0	FAM108B1	73674892	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.152000	0.94680	2.151000	0.67156	0.533000	0.62120	TCT	.		0.413	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014	
FAM120B	84498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	170657249	170657249	+	Silent	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:170657249T>A	ENST00000476287.1	+	5	2136	c.2028T>A	c.(2026-2028)ccT>ccA	p.P676P	FAM120B_ENST00000252510.9_Silent_p.P8P|FAM120B_ENST00000537664.1_Silent_p.P699P|FAM120B_ENST00000540480.1_Silent_p.P688P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	676					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GGGGAACGCCTAGTTTGAAAA	0.398																																					p.P676P		.											.	FAM120B	91	0			c.T2028A						.						50.0	54.0	53.0					6																	170657249		2203	4300	6503	SO:0001819	synonymous_variant	84498	exon5			AACGCCTAGTTTG	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2028T>A	6.37:g.170657249T>A		62.0	0.0		46.0	16.0	NM_032448	B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																			.		0.398	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
FAM179B	23116	hgsc.bcm.edu;bcgsc.ca	37	14	45535808	45535808	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:45535808C>T	ENST00000361577.3	+	16	4642	c.4428C>T	c.(4426-4428)acC>acT	p.T1476T	FAM179B_ENST00000361462.2_Silent_p.T1529T|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1476										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTGAAGTCACCAGAAAATCAG	0.328																																					p.T1476T		.											.	FAM179B	93	0			c.C4428T						.						115.0	116.0	116.0					14																	45535808		2203	4300	6503	SO:0001819	synonymous_variant	23116	exon16			AGTCACCAGAAAA	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4428C>T	14.37:g.45535808C>T		167.0	0.0		81.0	4.0	NM_015091	Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1																																																																																			.		0.328	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
GGT1	2678	hgsc.bcm.edu;bcgsc.ca	37	22	24981864	24981864	+	Intron	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:24981864C>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.C313F|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCACCTGGCACAGCAGGCCTG	0.647																																					p.C313F		.											.	.	.	0			c.G938T						.						7.0	10.0	9.0					22																	24981864		1940	4104	6044	SO:0001627	intron_variant	388886	exon4			CTGGCACAGCAGG	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2088C>A	22.37:g.24981864C>A		59.0	0.0		64.0	4.0	NM_207644	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598675	0.28445	.	.	ENSG00000178026	ENST00000318753	T	0.54479	0.57	4.36	3.33	0.38152	.	0.000000	0.39985	U	0.001217	T	0.63343	0.2503	L	0.57536	1.79	0.36028	D	0.839187	D	0.64830	0.994	D	0.65443	0.935	T	0.71318	-0.4629	10	0.87932	D	0	-8.0036	8.8651	0.35280	0.0:0.891:0.0:0.109	.	313	Q2VPJ9	LRC6X_HUMAN	F	313	ENSP00000320520:C313F	ENSP00000320520:C313F	C	-	2	0	C22orf36	23311864	0.926000	0.31397	0.761000	0.31378	0.023000	0.10783	1.949000	0.40313	1.128000	0.42052	0.655000	0.94253	TGT	.		0.647	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430	
FAM76B	143684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	95516268	95516268	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:95516268T>C	ENST00000358780.5	-	5	836	c.524A>G	c.(523-525)cAt>cGt	p.H175R	FAM76B_ENST00000536839.1_Missense_Mutation_p.H175R	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	175	His-rich.|Poly-His.					nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				atggtgatgatggtggtgatg	0.378																																					p.H175R		.											.	FAM76B	90	0			c.A524G						.						120.0	116.0	117.0					11																	95516268		1984	4162	6146	SO:0001583	missense	143684	exon5			TGATGATGGTGGT		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.524A>G	11.37:g.95516268T>C	ENSP00000351631:p.His175Arg	443.0	1.0		315.0	80.0	NM_144664	Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	CCDS41700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.31|14.31	2.498398|2.498398	0.44455|0.44455	.|.	.|.	ENSG00000077458|ENSG00000077458	ENST00000358780;ENST00000536839|ENST00000542135;ENST00000540054	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.149349|.	0.64402|.	D|.	0.000011|.	T|T	0.44850|0.44850	0.1313|0.1313	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.33073|.	0.396|.	B|.	0.34931|.	0.192|.	T|T	0.55515|0.55515	-0.8129|-0.8129	9|6	0.13470|0.87932	T|D	0.59|0	-16.1145|-16.1145	16.0786|16.0786	0.80985|0.80985	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175|.	Q5HYJ3|.	FA76B_HUMAN|.	R|V	175|79	.|.	ENSP00000351631:H175R|ENSP00000442652:I79V	H|I	-|-	2|1	0|0	FAM76B|FAM76B	95155916|95155916	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.896000|0.896000	0.52359|0.52359	7.356000|7.356000	0.79445|0.79445	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	CAT|ATC	.		0.378	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664	
FAN1	22909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	31221547	31221547	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:31221547A>G	ENST00000362065.4	+	12	3025	c.2734A>G	c.(2734-2736)Aga>Gga	p.R912G	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	912	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCAGGAAGGCAGAGTGGCTTC	0.597								Direct reversal of damage																													p.R912G		.											.	FAN1	90	0			c.A2734G						.						130.0	127.0	128.0					15																	31221547		2202	4300	6502	SO:0001583	missense	22909	exon12			GAAGGCAGAGTGG		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2734A>G	15.37:g.31221547A>G	ENSP00000354497:p.Arg912Gly	133.0	0.0		100.0	26.0	NM_014967	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548380	0.65311	.	.	ENSG00000198690	ENST00000362065	D	0.85484	-1.99	5.39	-1.59	0.08453	VRR-NUC (1);	0.111885	0.64402	D	0.000012	T	0.81153	0.4763	M	0.62723	1.935	0.80722	D	1	P;P	0.44344	0.833;0.737	B;B	0.42959	0.403;0.403	T	0.77480	-0.2572	10	0.56958	D	0.05	-23.1458	10.0175	0.42022	0.4853:0.4507:0.0639:0.0	.	912;912	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	G	912	ENSP00000354497:R912G	ENSP00000354497:R912G	R	+	1	2	FAN1	29008839	0.832000	0.29368	0.639000	0.29394	0.798000	0.45092	1.308000	0.33528	-0.182000	0.10602	0.528000	0.53228	AGA	.		0.597	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
FASN	2194	hgsc.bcm.edu;bcgsc.ca	37	17	80041462	80041462	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:80041462T>C	ENST00000306749.2	-	31	5490	c.5272A>G	c.(5272-5274)Agg>Ggg	p.R1758G	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1758	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCCAAGCACCTCACGCTGGCC	0.637																																					p.R1758G	Colon(59;314 1043 11189 28578 32273)	.											.	FASN	90	0			c.A5272G						.						37.0	36.0	36.0					17																	80041462		2193	4293	6486	SO:0001583	missense	2194	exon31			AGCACCTCACGCT	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5272A>G	17.37:g.80041462T>C	ENSP00000304592:p.Arg1758Gly	83.0	0.0		64.0	5.0	NM_004104	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394659	0.62066	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.04551	3.6	4.57	-0.218	0.13142	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	M	0.72894	2.215	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.00071	-1.2132	10	0.72032	D	0.01	-46.6612	14.3605	0.66768	0.0:0.0:0.7353:0.2647	.	1758	P49327	FAS_HUMAN	G	1758;723	ENSP00000304592:R1758G	ENSP00000304592:R1758G	R	-	1	2	FASN	77634751	1.000000	0.71417	0.890000	0.34922	0.625000	0.37756	4.412000	0.59787	-0.306000	0.08818	-0.488000	0.04728	AGG	.		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	
FAT1	2195	hgsc.bcm.edu;bcgsc.ca	37	4	187584675	187584675	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:187584675A>G	ENST00000441802.2	-	3	3567	c.3358T>C	c.(3358-3360)Tca>Cca	p.S1120P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1120	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGAACGATGAAAGAGGCACG	0.458										HNSCC(5;0.00058)																											p.S1120P	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1	34	0			c.T3358C						.						134.0	133.0	133.0					4																	187584675		1985	4173	6158	SO:0001583	missense	2195	exon3			ACGATGAAAGAGG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3358T>C	4.37:g.187584675A>G	ENSP00000406229:p.Ser1120Pro	144.0	0.0		89.0	5.0	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389748	0.61956	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.55588	0.51	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.85462	2.755	0.80722	D	1	P	0.38863	0.65	B	0.40782	0.34	T	0.62671	-0.6805	10	0.27785	T	0.31	.	15.0887	0.72177	1.0:0.0:0.0:0.0	.	1120	Q14517	FAT1_HUMAN	P	1120	ENSP00000406229:S1120P	ENSP00000260147:S1120P	S	-	1	0	FAT1	187821669	1.000000	0.71417	0.176000	0.23000	0.237000	0.25408	7.304000	0.78882	2.155000	0.67459	0.482000	0.46254	TCA	.		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	150946265	150946265	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:150946265T>A	ENST00000261800.5	-	1	2240	c.2228A>T	c.(2227-2229)gAt>gTt	p.D743V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	743	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAACCAGCATCAGGGTCAGT	0.532																																					p.D743V		.											.	FAT2	96	0			c.A2228T						.						70.0	75.0	74.0					5																	150946265		2203	4300	6503	SO:0001583	missense	2196	exon1			CCAGCATCAGGGT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2228A>T	5.37:g.150946265T>A	ENSP00000261800:p.Asp743Val	121.0	0.0		65.0	6.0	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646074	0.67358	.	.	ENSG00000086570	ENST00000261800	T	0.74737	-0.87	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.92639	0.7661	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95758	0.8798	10	0.87932	D	0	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	743	Q9NYQ8	FAT2_HUMAN	V	743	ENSP00000261800:D743V	ENSP00000261800:D743V	D	-	2	0	FAT2	150926458	1.000000	0.71417	0.595000	0.28798	0.900000	0.52787	7.932000	0.87634	2.333000	0.79357	0.533000	0.62120	GAT	.		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FOXJ3	22887	hgsc.bcm.edu;bcgsc.ca	37	1	42730811	42730811	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:42730811G>C	ENST00000372572.1	-	6	730	c.419C>G	c.(418-420)cCt>cGt	p.P140R	FOXJ3_ENST00000361346.1_Missense_Mutation_p.P140R|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P140R|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P140R|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P140R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	140					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTAGATCGAGGCACTTTAAG	0.333																																					p.P140R		.											.	FOXJ3	228	0			c.C419G						.						142.0	146.0	145.0					1																	42730811		2203	4300	6503	SO:0001583	missense	22887	exon6			GATCGAGGCACTT	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.419C>G	1.37:g.42730811G>C	ENSP00000361653:p.Pro140Arg	85.0	0.0		80.0	4.0	NM_001198851	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866291	0.91511	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.126578	0.51477	D	0.000085	D	0.97707	0.9248	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98283	1.0509	10	0.87932	D	0	.	17.2171	0.86947	0.0:0.0:1.0:0.0	.	140;140	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	R	140;140;140;140;140;140;97	ENSP00000361654:P140R;ENSP00000361653:P140R;ENSP00000354620:P140R;ENSP00000354449:P140R;ENSP00000439044:P140R;ENSP00000393408:P140R;ENSP00000403060:P97R	ENSP00000354620:P140R	P	-	2	0	FOXJ3	42503398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.238000	0.95380	2.653000	0.90120	0.563000	0.77884	CCT	.		0.333	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
FCRL5	83416	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	157497528	157497528	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:157497528G>A	ENST00000361835.3	-	9	1996	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	FCRL5_ENST00000368190.3_Silent_p.P613P|FCRL5_ENST00000368191.3_Silent_p.P528P|FCRL5_ENST00000356953.4_Silent_p.P613P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	613	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTCCTCCAGAGGGGGCTGAGC	0.557																																					p.P613P		.											.	FCRL5	156	0			c.C1839T						.						80.0	81.0	81.0					1																	157497528		2203	4300	6503	SO:0001819	synonymous_variant	83416	exon9			TCCAGAGGGGGCT	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1839C>T	1.37:g.157497528G>A		222.0	0.0		218.0	140.0	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																			.		0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
GABRA1	2554	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	161292754	161292754	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:161292754T>A	ENST00000428797.2	+	5	570	c.215T>A	c.(214-216)aTc>aAc	p.I72N	GABRA1_ENST00000393943.4_Missense_Mutation_p.I72N|GABRA1_ENST00000023897.6_Missense_Mutation_p.I72N|GABRA1_ENST00000437025.2_Missense_Mutation_p.I72N|GABRA1_ENST00000444819.1_Missense_Mutation_p.I72N|GABRA1_ENST00000420560.1_Missense_Mutation_p.I72N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	72					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAGACTGATATCTTCGTCACC	0.408																																					p.I72N		.											.	GABRA1	93	0			c.T215A						.						207.0	186.0	193.0					5																	161292754		2203	4300	6503	SO:0001583	missense	2554	exon5			CTGATATCTTCGT		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.215T>A	5.37:g.161292754T>A	ENSP00000393097:p.Ile72Asn	225.0	0.0		207.0	12.0	NM_001127643	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777259	0.90195	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.26;-1.45;-1.26;-1.45;-1.45	5.33	5.33	0.75918	Neurotransmitter-gated ion-channel ligand-binding (3);	0.063724	0.64402	D	0.000006	D	0.91821	0.7412	H	0.94306	3.52	0.80722	D	1	D	0.57257	0.979	D	0.63703	0.917	D	0.94054	0.7320	10	0.87932	D	0	.	15.3028	0.73966	0.0:0.0:0.0:1.0	.	72	P14867	GBRA1_HUMAN	N	72;72;72;72;78;72;72;72;72	ENSP00000023897:I72N;ENSP00000393097:I72N;ENSP00000377517:I72N;ENSP00000415441:I72N;ENSP00000430895:I78N;ENSP00000408041:I72N;ENSP00000430507:I72N;ENSP00000414232:I72N;ENSP00000430435:I72N	ENSP00000023897:I72N	I	+	2	0	GABRA1	161225332	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.946000	0.87746	2.012000	0.59069	0.455000	0.32223	ATC	.		0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
GAS1	2619	hgsc.bcm.edu;bcgsc.ca	37	9	89561085	89561085	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:89561085G>A	ENST00000298743.7	-	1	1019	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	204					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						ATGACGGTGCGGCATTCGTCC	0.667																																					p.R204C		.											.	GAS1	226	0			c.C610T						.						24.0	22.0	23.0					9																	89561085		2201	4297	6498	SO:0001583	missense	2619	exon1			CGGTGCGGCATTC		CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"""Growth arrest-specific gene-1"""	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.610C>T	9.37:g.89561085G>A	ENSP00000298743:p.Arg204Cys	63.0	0.0		39.0	4.0	NM_002048	B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268603	0.40095	.	.	ENSG00000180447	ENST00000298743	T	0.65549	-0.16	4.34	4.34	0.51931	GDNF/GAS1 (2);	0.091849	0.44285	U	0.000464	T	0.68522	0.3010	L	0.42245	1.32	0.54753	D	0.999983	D	0.89917	1.0	D	0.79784	0.993	T	0.70539	-0.4844	10	0.87932	D	0	-1.3365	7.6289	0.28228	0.0877:0.0:0.7503:0.162	.	204	P54826	GAS1_HUMAN	C	204	ENSP00000298743:R204C	ENSP00000298743:R204C	R	-	1	0	GAS1	88750905	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.835000	0.48175	1.946000	0.56461	0.555000	0.69702	CGC	.		0.667	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052928.1	NM_002048	
GBF1	8729	hgsc.bcm.edu;bcgsc.ca	37	10	104119157	104119157	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:104119157G>C	ENST00000369983.3	+	11	1402	c.1142G>C	c.(1141-1143)cGg>cCg	p.R381P	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	381					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTCAATCCCCGGGGCGTGCGC	0.562																																					p.R382P		.											.	GBF1	91	0			c.G1145C						.						145.0	110.0	122.0					10																	104119157		2203	4300	6503	SO:0001583	missense	8729	exon11			ATCCCCGGGGCGT	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1142G>C	10.37:g.104119157G>C	ENSP00000359000:p.Arg381Pro	114.0	0.0		76.0	4.0	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962377	0.92791	.	.	ENSG00000107862	ENST00000369983	T	0.10960	2.82	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.72625	0.962;0.916;0.978	T	0.00567	-1.1667	10	0.30078	T	0.28	-14.2111	19.6846	0.95976	0.0:0.0:1.0:0.0	.	381;381;381	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	381	ENSP00000359000:R381P	ENSP00000359000:R381P	R	+	2	0	GBF1	104109147	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.471000	0.97696	2.644000	0.89710	0.655000	0.94253	CGG	.		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
GCN1L1	10985	hgsc.bcm.edu;bcgsc.ca	37	12	120582132	120582132	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:120582132A>G	ENST00000300648.6	-	42	5485	c.5473T>C	c.(5473-5475)Ttt>Ctt	p.F1825L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1825					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTCATCAAAGAGGCCTTGC	0.587																																					p.F1825L		.											.	GCN1L1	94	0			c.T5473C						.						63.0	66.0	65.0					12																	120582132		2020	4184	6204	SO:0001583	missense	10985	exon42			CATCAAAGAGGCC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5473T>C	12.37:g.120582132A>G	ENSP00000300648:p.Phe1825Leu	190.0	0.0		115.0	6.0	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534285	0.85812	.	.	ENSG00000089154	ENST00000300648	T	0.64085	-0.08	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.45352	1.415	0.80722	D	1	P	0.41475	0.751	P	0.45794	0.493	T	0.60326	-0.7285	10	0.34782	T	0.22	-17.3737	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1825	Q92616	GCN1L_HUMAN	L	1825	ENSP00000300648:F1825L	ENSP00000300648:F1825L	F	-	1	0	GCN1L1	119066515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.667000	0.91153	2.367000	0.80283	0.528000	0.53228	TTT	.		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
GCN1L1	10985	hgsc.bcm.edu;bcgsc.ca	37	12	120591048	120591048	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:120591048A>G	ENST00000300648.6	-	33	4043	c.4031T>C	c.(4030-4032)cTc>cCc	p.L1344P	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1344					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCGATGAGCTTGGCAAC	0.597																																					p.L1344P		.											.	GCN1L1	94	0			c.T4031C						.						73.0	80.0	77.0					12																	120591048		2068	4187	6255	SO:0001583	missense	10985	exon33			GCGATGAGCTTGG	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4031T>C	12.37:g.120591048A>G	ENSP00000300648:p.Leu1344Pro	188.0	0.0		110.0	5.0	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541144	0.85917	.	.	ENSG00000089154	ENST00000300648	T	0.74632	-0.86	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93147	0.6546	10	0.87932	D	0	-16.188	15.97	0.80008	1.0:0.0:0.0:0.0	.	1344	Q92616	GCN1L_HUMAN	P	1344	ENSP00000300648:L1344P	ENSP00000300648:L1344P	L	-	2	0	GCN1L1	119075431	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.997000	0.93544	2.189000	0.69895	0.459000	0.35465	CTC	.		0.597	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
GJB6	10804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	20797362	20797362	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:20797362G>T	ENST00000356192.6	-	5	878	c.258C>A	c.(256-258)acC>acA	p.T86T	GJB6_ENST00000400066.3_Silent_p.T86T|GJB6_ENST00000241124.6_Silent_p.T86T|GJB6_ENST00000400065.3_Silent_p.T86T	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	86					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GCAGCGCTGGGGTGGAGACGA	0.552																																					p.T86T		.											.	GJB6	91	0			c.C258A						.						56.0	48.0	51.0					13																	20797362		2203	4300	6503	SO:0001819	synonymous_variant	10804	exon4			CGCTGGGGTGGAG	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.258C>A	13.37:g.20797362G>T		91.0	0.0		49.0	9.0	NM_001110220	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	ENST00000356192.6	37	CCDS9291.1																																																																																			.		0.552	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1		
GNA13	10672	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	63014414	63014414	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:63014414G>T	ENST00000439174.2	-	3	763	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	GNA13_ENST00000541118.1_Missense_Mutation_p.S78Y	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	173					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						ATATTTTACAGATTCACCCTA	0.328																																					p.S173Y		.											.	GNA13	227	0			c.C518A						.						116.0	122.0	120.0					17																	63014414		2202	4300	6502	SO:0001583	missense	10672	exon3			TTTACAGATTCAC	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.518C>A	17.37:g.63014414G>T	ENSP00000400717:p.Ser173Tyr	378.0	1.0		277.0	20.0	NM_006572	B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595369	0.86953	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.90385	-2.66;-2.66	5.17	5.17	0.71159	G protein alpha subunit, helical insertion (2);	0.110475	0.64402	D	0.000004	D	0.94118	0.8114	H	0.98155	4.16	0.80722	D	1	B	0.28291	0.206	B	0.20577	0.03	D	0.93934	0.7217	10	0.87932	D	0	.	16.6317	0.85035	0.0:0.0:1.0:0.0	.	173	Q14344	GNA13_HUMAN	Y	173;78;148	ENSP00000400717:S173Y;ENSP00000439647:S78Y	ENSP00000239138:S148Y	S	-	2	0	GNA13	60444876	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.284000	0.95882	2.692000	0.91855	0.655000	0.94253	TCT	.		0.328	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572	
GPR126	57211	hgsc.bcm.edu;bcgsc.ca	37	6	142764487	142764487	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:142764487G>A	ENST00000230173.6	+	26	4110	c.3634G>A	c.(3634-3636)Gga>Aga	p.G1212R	GPR126_ENST00000367608.2_Missense_Mutation_p.M1168I|GPR126_ENST00000367609.3_Missense_Mutation_p.M1196I|GPR126_ENST00000296932.8_Missense_Mutation_p.G1184R	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1212					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GTGCTTCCATGGACAAGTCCT	0.443																																					p.G1212R		.											.	GPR126	91	0			c.G3634A						.						193.0	184.0	187.0					6																	142764487		1959	4157	6116	SO:0001583	missense	57211	exon26			TTCCATGGACAAG	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.3634G>A	6.37:g.142764487G>A	ENSP00000230173:p.Gly1212Arg	105.0	0.0		82.0	4.0	NM_020455	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.41|10.41	1.343525|1.343525	0.24339|0.24339	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000230173;ENST00000296932|ENST00000367608;ENST00000367609	T;T|T;T	0.23950|0.22945	1.88;1.88|1.94;1.93	6.07|6.07	4.29|4.29	0.51040|0.51040	.|.	.|0.402565	.|0.24312	.|N	.|0.039625	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.08118|0.08118	0|0	0.20307|0.20307	N|N	0.999916|0.999916	B;B|B;B;B	0.23249|0.12013	0.082;0.049|0.002;0.005;0.005	B;B|B;B;B	0.17433|0.11329	0.018;0.012|0.001;0.006;0.006	T|T	0.40308|0.40308	-0.9570|-0.9570	9|10	0.45353|0.21540	T|T	0.12|0.41	.|.	5.0134|5.0134	0.14324|0.14324	0.0709:0.1122:0.5039:0.3129|0.0709:0.1122:0.5039:0.3129	.|.	1184;1212|256;1168;1196	Q86SQ4-2;Q86SQ4|B4DSK4;Q86SQ4-4;Q86SQ4-3	.;GP126_HUMAN|.;.;.	R|I	1212;1184|1168;1196	ENSP00000230173:G1212R;ENSP00000296932:G1184R|ENSP00000356580:M1168I;ENSP00000356581:M1196I	ENSP00000230173:G1212R|ENSP00000356580:M1168I	G|M	+|+	1|3	0|0	GPR126|GPR126	142806180|142806180	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.819000|0.819000	0.46315|0.46315	2.368000|2.368000	0.44222|0.44222	0.888000|0.888000	0.36160|0.36160	0.655000|0.655000	0.94253|0.94253	GGA|ATG	.		0.443	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
GPR148	344561	hgsc.bcm.edu;bcgsc.ca	37	2	131487678	131487678	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:131487678C>T	ENST00000309926.4	+	1	1036	c.954C>T	c.(952-954)taC>taT	p.Y318Y		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGCTCACATACCTGTACCTGC	0.572																																					p.Y318Y		.											.	GPR148	91	0			c.C954T						.						79.0	65.0	70.0					2																	131487678		2203	4300	6503	SO:0001819	synonymous_variant	344561	exon1			CACATACCTGTAC	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.954C>T	2.37:g.131487678C>T		91.0	0.0		81.0	5.0	NM_207364	Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	CCDS2163.1																																																																																			.		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092	
GPR84	53831	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	54757018	54757018	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:54757018T>C	ENST00000551809.1	-	1	1253	c.618A>G	c.(616-618)aaA>aaG	p.K206K	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.K206K			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GTGCTGCTCGTTTGACCTGGC	0.567																																					p.K206K		.											.	GPR84	523	0			c.A618G						.						170.0	146.0	154.0					12																	54757018		2203	4300	6503	SO:0001819	synonymous_variant	53831	exon2			TGCTCGTTTGACC	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.618A>G	12.37:g.54757018T>C		76.0	0.0		51.0	5.0	NM_020370	B6V9G7	Silent	SNP	ENST00000551809.1	37	CCDS8878.1																																																																																			.		0.567	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
GRB7	2886	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	37902437	37902437	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:37902437G>T	ENST00000309156.4	+	14	1691	c.1434G>T	c.(1432-1434)aaG>aaT	p.K478N	GRB7_ENST00000394209.2_Missense_Mutation_p.K478N|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.K478N|GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000445327.2_Missense_Mutation_p.K501N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	478	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGAAAGTGAAGCATTATCTCA	0.602																																					p.K501N		.											.	GRB7	848	0			c.G1503T						.						128.0	114.0	119.0					17																	37902437		2203	4300	6503	SO:0001583	missense	2886	exon14			AGTGAAGCATTAT	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1434G>T	17.37:g.37902437G>T	ENSP00000310771:p.Lys478Asn	172.0	1.0		102.0	27.0	NM_001242442	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529286	0.64860	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.65	-5.09	0.02920	SH2 motif (5);	0.099543	0.64402	D	0.000002	D	0.92724	0.7687	M	0.80508	2.5	0.80722	D	1	D	0.63880	0.993	D	0.76575	0.988	D	0.89785	0.3964	10	0.72032	D	0.01	-22.5388	7.6459	0.28321	0.4513:0.0:0.4414:0.1073	.	478	Q14451	GRB7_HUMAN	N	478;478;478;501	ENSP00000310771:K478N;ENSP00000377761:K478N;ENSP00000377759:K478N;ENSP00000403459:K501N	ENSP00000310771:K478N	K	+	3	2	GRB7	35155963	0.675000	0.27558	0.919000	0.36401	0.945000	0.59286	-0.099000	0.11007	-0.800000	0.04433	0.561000	0.74099	AAG	.		0.602	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	
GREB1	9687	hgsc.bcm.edu;bcgsc.ca	37	2	11770126	11770126	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:11770126A>G	ENST00000381486.2	+	26	4802	c.4502A>G	c.(4501-4503)gAg>gGg	p.E1501G	GREB1_ENST00000234142.5_Missense_Mutation_p.E1501G|GREB1_ENST00000396123.1_Missense_Mutation_p.E499G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1501						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)		ATGCTAGGAGAGGAGATCCAG	0.587																																					p.E1501G	Ovarian(39;850 945 2785 23371 33093)	.											.	GREB1	91	0			c.A4502G						.						131.0	130.0	131.0					2																	11770126		2114	4244	6358	SO:0001583	missense	9687	exon26			TAGGAGAGGAGAT		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.4502A>G	2.37:g.11770126A>G	ENSP00000370896:p.Glu1501Gly	206.0	0.0		116.0	7.0	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659369	0.88154	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.58652	0.32;0.32;0.32	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.78679	-0.2110	10	0.72032	D	0.01	-36.3023	15.6154	0.76764	1.0:0.0:0.0:0.0	.	1501	Q4ZG55	GREB1_HUMAN	G	1501;1501;499	ENSP00000370896:E1501G;ENSP00000234142:E1501G;ENSP00000379429:E499G	ENSP00000234142:E1501G	E	+	2	0	GREB1	11687577	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.993000	0.76245	2.092000	0.63282	0.496000	0.49642	GAG	.		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GRM4	2914	ucsc.edu;bcgsc.ca	37	6	34004201	34004201	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:34004201A>G	ENST00000538487.2	-	9	2129	c.1686T>C	c.(1684-1686)taT>taC	p.Y562Y	GRM4_ENST00000535756.1_Silent_p.Y429Y|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.Y429Y|GRM4_ENST00000374177.3_Silent_p.Y446Y|GRM4_ENST00000544773.2_Silent_p.Y393Y|GRM4_ENST00000374181.4_Silent_p.Y562Y|GRM4_ENST00000455714.2_Silent_p.Y422Y	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	562					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCCGCATGTCATAGGGACACG	0.637																																					p.Y562Y		.											.	GRM4	525	0			c.T1686C						.						65.0	54.0	58.0					6																	34004201		2203	4300	6503	SO:0001819	synonymous_variant	2914	exon9			CATGTCATAGGGA	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1686T>C	6.37:g.34004201A>G		49.0	0.0		43.0	4.0	NM_000841	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	CCDS4787.1																																																																																			.		0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
GTSE1	51512	hgsc.bcm.edu;bcgsc.ca	37	22	46704325	46704325	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:46704325A>G	ENST00000454366.1	+	4	459	c.247A>G	c.(247-249)Aca>Gca	p.T83A		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	64					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCCGTTGCCCACATCTGAGAG	0.498																																					p.T83A	GBM(153;542 1915 12487 29016 50495)	.											.	GTSE1	187	0			c.A247G						.						105.0	116.0	112.0					22																	46704325		2203	4300	6503	SO:0001583	missense	51512	exon4			TTGCCCACATCTG	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.247A>G	22.37:g.46704325A>G	ENSP00000415430:p.Thr83Ala	128.0	0.0		80.0	4.0	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794801	0.02862	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06294	3.32	4.88	3.77	0.43336	.	0.791236	0.10885	N	0.623396	T	0.01353	0.0044	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45585	-0.9251	10	0.06625	T	0.88	-0.5449	3.2106	0.06681	0.0897:0.129:0.4894:0.2919	.	64	Q9NYZ3	GTSE1_HUMAN	A	83;43	ENSP00000415430:T83A	ENSP00000354634:T43A	T	+	1	0	GTSE1	45082989	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.168000	0.16622	1.379000	0.46325	-0.213000	0.12676	ACA	.		0.498	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426	
GUCY1A3	2982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	156631936	156631936	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:156631936C>T	ENST00000296518.7	+	6	828	c.619C>T	c.(619-621)Cct>Tct	p.P207S	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P207S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P207S|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	207					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)		CTACTTCTTCCCTAAGAGAAC	0.478																																					p.P207S		.											.	GUCY1A3	93	0			c.C619T						.						77.0	81.0	80.0					4																	156631936		2203	4300	6503	SO:0001583	missense	2982	exon6			TTCTTCCCTAAGA		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.619C>T	4.37:g.156631936C>T	ENSP00000296518:p.Pro207Ser	138.0	0.0		96.0	27.0	NM_001130687	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177777	0.78564	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.64	4.79	0.61399	Heme-NO binding (1);	0.090923	0.48767	N	0.000174	T	0.60663	0.2286	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.60591	-0.7233	10	0.09843	T	0.71	.	14.7505	0.69522	0.0:0.9302:0.0:0.0698	.	207;207;207	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	S	207	ENSP00000424361:P207S;ENSP00000421493:P207S;ENSP00000426968:P207S;ENSP00000412201:P207S;ENSP00000296518:P207S;ENSP00000426040:P207S	ENSP00000296518:P207S	P	+	1	0	GUCY1A3	156851386	1.000000	0.71417	0.991000	0.47740	0.846000	0.48090	5.524000	0.67105	1.498000	0.48600	0.643000	0.83706	CCT	.		0.478	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
HAP1	9001	hgsc.bcm.edu;bcgsc.ca	37	17	39889015	39889015	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:39889015T>C	ENST00000310778.5	-	2	514	c.505A>G	c.(505-507)Atc>Gtc	p.I169V	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.I169V|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Missense_Mutation_p.I169V|HAP1_ENST00000341193.5_Missense_Mutation_p.I169V			P54257	HAP1_HUMAN	huntingtin-associated protein 1	169	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCCTGGGTGATCTTTTTGACT	0.527																																					p.I169V		.											.	HAP1	92	0			c.A505G						.						145.0	125.0	132.0					17																	39889015		2203	4300	6503	SO:0001583	missense	9001	exon2			GGGTGATCTTTTT	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.505A>G	17.37:g.39889015T>C	ENSP00000309392:p.Ile169Val	250.0	0.0		130.0	6.0	NM_177977	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	T	9.774	1.173555	0.21704	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.08102	3.15;3.31;3.29;3.13	2.75	1.66	0.24008	.	0.190363	0.26038	N	0.026706	T	0.18173	0.0436	L	0.57536	1.79	0.23589	N	0.997341	P;P;P;P	0.47604	0.876;0.876;0.876;0.898	P;P;D;D	0.68192	0.894;0.894;0.927;0.956	T	0.02813	-1.1107	10	0.49607	T	0.09	-7.7441	4.6019	0.12357	0.0:0.1545:0.0:0.8455	.	169;169;169;169	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	V	169	ENSP00000377513:I169V;ENSP00000309392:I169V;ENSP00000334002:I169V;ENSP00000343170:I169V	ENSP00000309392:I169V	I	-	1	0	HAP1	37142541	0.998000	0.40836	0.995000	0.50966	0.011000	0.07611	1.365000	0.34182	0.464000	0.27142	0.374000	0.22700	ATC	.		0.527	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	
HDAC9	9734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	18687567	18687567	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:18687567C>T	ENST00000432645.2	+	9	1186	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	HDAC9_ENST00000405010.3_Silent_p.L396L|HDAC9_ENST00000401921.1_Silent_p.L355L|HDAC9_ENST00000406451.4_Silent_p.L396L|HDAC9_ENST00000441542.2_Silent_p.L399L|HDAC9_ENST00000456174.2_Silent_p.L368L|HDAC9_ENST00000417496.2_Silent_p.L394L|HDAC9_ENST00000406072.1_Silent_p.L383L|HDAC9_ENST00000428307.2_Silent_p.L352L|HDAC9_ENST00000524023.1_Silent_p.L319L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	396					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|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)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCAGGCTCTCCTGCAGCATTT	0.473																																					p.L399L		.											.	HDAC9	227	0			c.C1195T						.						35.0	36.0	36.0					7																	18687567		1974	4164	6138	SO:0001819	synonymous_variant	9734	exon9			GCTCTCCTGCAGC	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1186C>T	7.37:g.18687567C>T		83.0	0.0		57.0	18.0	NM_178425	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																			.		0.473	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
HEATR5B	54497	hgsc.bcm.edu;bcgsc.ca	37	2	37227915	37227915	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:37227915T>C	ENST00000233099.5	-	33	5454	c.5359A>G	c.(5359-5361)Aga>Gga	p.R1787G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1698G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1787						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTCAATATTCTTGCAATTAAG	0.363																																					p.R1787G		.											.	HEATR5B	142	0			c.A5359G						.						92.0	101.0	98.0					2																	37227915		2203	4300	6503	SO:0001583	missense	54497	exon33			ATATTCTTGCAAT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5359A>G	2.37:g.37227915T>C	ENSP00000233099:p.Arg1787Gly	174.0	0.0		100.0	4.0	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	3.318	-0.139332	0.06669	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65364	1.18;-0.15	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.047823	0.85682	D	0.000000	T	0.21761	0.0524	N	0.00272	-1.73	0.24303	N	0.995111	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19353	-1.0308	10	0.02654	T	1	-19.8367	11.4357	0.50066	0.0:0.0:0.1508:0.8492	.	1787;1787	Q9P2D3;B9EK47	HTR5B_HUMAN;.	G	1787;1698	ENSP00000233099:R1787G;ENSP00000346531:R1698G	ENSP00000233099:R1787G	R	-	1	2	HEATR5B	37081419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.429000	0.44758	1.887000	0.54652	0.482000	0.46254	AGA	.		0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
HGF	3082	hgsc.bcm.edu;bcgsc.ca	37	7	81335733	81335733	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:81335733C>T	ENST00000222390.5	-	15	1853	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	HGF_ENST00000457544.2_Missense_Mutation_p.D538N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	543	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCTTCATAATCTTTCAAGTCT	0.333																																					p.D543N		.											.	HGF	516	0			c.G1627A						.						108.0	115.0	112.0					7																	81335733		2203	4300	6503	SO:0001583	missense	3082	exon15			CATAATCTTTCAA		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1627G>A	7.37:g.81335733C>T	ENSP00000222390:p.Asp543Asn	122.0	0.0		80.0	4.0	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431347	0.83776	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.89050	-2.46;-2.46	5.07	5.07	0.68467	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.098274	0.64402	D	0.000002	D	0.87233	0.6126	N	0.11255	0.115	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59221	0.772;0.854	D	0.87673	0.2542	10	0.33940	T	0.23	.	18.8012	0.92018	0.0:1.0:0.0:0.0	.	538;543	P14210-3;P14210	.;HGF_HUMAN	N	543;538	ENSP00000222390:D543N;ENSP00000391238:D538N	ENSP00000222390:D543N	D	-	1	0	HGF	81173669	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.500000	0.84329	0.585000	0.79938	GAT	.		0.333	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
HEPACAM2	253012	hgsc.bcm.edu;bcgsc.ca	37	7	92825166	92825166	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:92825166A>G	ENST00000394468.2	-	8	1327	c.1250T>C	c.(1249-1251)tTt>tCt	p.F417S	HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F405S|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.F397L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F440S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	417					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AACATCTGGAAAAGCAACAAA	0.388																																					p.F417S		.											.	HEPACAM2	157	0			c.T1250C						.						118.0	116.0	116.0					7																	92825166		2203	4300	6503	SO:0001583	missense	253012	exon8			TCTGGAAAAGCAA	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1250T>C	7.37:g.92825166A>G	ENSP00000377980:p.Phe417Ser	113.0	0.0		89.0	5.0	NM_001039372	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.515757|4.515757	0.85495|0.85495	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000440868|ENST00000394468;ENST00000341723;ENST00000453812	T|T;T;T	0.57107|0.57107	0.42|0.42;0.44;0.47	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.390165|0.390165	0.28983|0.28983	N|N	0.013514|0.013514	T|T	0.41305|0.41305	0.1153|0.1153	N|N	0.24115|0.24115	0.695|0.695	0.33045|0.33045	D|D	0.532039|0.532039	P|P;B;P	0.34522|0.34909	0.455|0.475;0.337;0.467	B|B;B;B	0.28709|0.38500	0.093|0.142;0.091;0.275	T|T	0.53429|0.53429	-0.8440|-0.8440	10|10	0.27082|0.25751	T|T	0.32|0.34	-14.7831|-14.7831	13.5382|13.5382	0.61657|0.61657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	397|440;417;405	C9JN07|E9PDV5;A8MVW5;A8MVW5-2	.|.;HECA2_HUMAN;.	L|S	397|417;405;440	ENSP00000389592:F397L|ENSP00000377980:F417S;ENSP00000340532:F405S;ENSP00000390204:F440S	ENSP00000389592:F397L|ENSP00000340532:F405S	F|F	-|-	1|2	0|0	HEPACAM2|HEPACAM2	92663102|92663102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.420000|5.420000	0.66441|0.66441	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	TTC|TTT	.		0.388	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
HIVEP2	3097	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	143094773	143094773	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:143094773T>C	ENST00000367604.1	-	4	1742	c.1103A>G	c.(1102-1104)aAa>aGa	p.K368R	HIVEP2_ENST00000012134.2_Missense_Mutation_p.K368R|HIVEP2_ENST00000367603.2_Missense_Mutation_p.K368R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	368					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(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAGTGCAAGTTTCTGTTTGAC	0.423																																					p.K368R	Esophageal Squamous(107;843 1510 13293 16805 42198)	.											.	HIVEP2	95	0			c.A1103G						.						158.0	154.0	155.0					6																	143094773		1931	4144	6075	SO:0001583	missense	3097	exon5			GCAAGTTTCTGTT	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1103A>G	6.37:g.143094773T>C	ENSP00000356576:p.Lys368Arg	201.0	0.0		115.0	6.0	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336682	0.24253	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.35236	1.32;1.32;1.32	5.62	4.46	0.54185	.	0.050794	0.85682	D	0.000000	T	0.07052	0.0179	N	0.12182	0.205	0.30826	N	0.737199	B	0.09022	0.002	B	0.06405	0.002	T	0.22800	-1.0206	10	0.19147	T	0.46	-16.1119	7.1394	0.25548	0.0:0.1622:0.0:0.8378	.	368	P31629	ZEP2_HUMAN	R	368	ENSP00000356576:K368R;ENSP00000356575:K368R;ENSP00000012134:K368R	ENSP00000012134:K368R	K	-	2	0	HIVEP2	143136466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.614000	0.46359	2.276000	0.75962	0.529000	0.55759	AAA	.		0.423	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HIVEP3	59269	hgsc.bcm.edu;bcgsc.ca	37	1	42046720	42046720	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:42046720A>G	ENST00000372583.1	-	4	4634	c.3749T>C	c.(3748-3750)cTc>cCc	p.L1250P	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.L1250P|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1250P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1250P	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1250					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATCACCAGGGAGCTGAAGTGC	0.582																																					p.L1250P		.											.	HIVEP3	157	0			c.T3749C						.						56.0	58.0	57.0					1																	42046720		2203	4300	6503	SO:0001583	missense	59269	exon4			CCAGGGAGCTGAA	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3749T>C	1.37:g.42046720A>G	ENSP00000361664:p.Leu1250Pro	102.0	0.0		70.0	4.0	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304399	0.23736	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07114	3.23;3.22;3.22;3.23	5.04	3.9	0.45041	.	0.154637	0.30602	N	0.009274	T	0.09905	0.0243	L	0.27053	0.805	0.53005	D	0.999966	D;D	0.59767	0.986;0.976	P;P	0.51135	0.66;0.459	T	0.18085	-1.0348	10	0.36615	T	0.2	-15.1113	10.93	0.47211	0.8593:0.0:0.0:0.1407	.	1250;1250	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	P	1250	ENSP00000361665:L1250P;ENSP00000361664:L1250P;ENSP00000247584:L1250P;ENSP00000410828:L1250P	ENSP00000247584:L1250P	L	-	2	0	HIVEP3	41819307	0.943000	0.32029	1.000000	0.80357	0.813000	0.45954	1.616000	0.36933	0.926000	0.37118	-0.468000	0.05107	CTC	.		0.582	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
HORMAD2	150280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	30517682	30517682	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:30517682G>T	ENST00000336726.6	+	9	827	c.472G>T	c.(472-474)Gtt>Ttt	p.V158F	HORMAD2_ENST00000403975.1_Missense_Mutation_p.V158F	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	158	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GAAAGCCAGTGTTCTACTGAT	0.348																																					p.V158F		.											.	.	.	0			c.G472T						.						88.0	77.0	81.0					22																	30517682		1853	4104	5957	SO:0001583	missense	150280	exon9			GCCAGTGTTCTAC	AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.472G>T	22.37:g.30517682G>T	ENSP00000336984:p.Val158Phe	301.0	0.0		226.0	60.0	NM_152510	B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	37	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682200	0.47991	.	.	ENSG00000176635	ENST00000336726;ENST00000403975	T;T	0.32515	1.45;1.45	4.87	-4.25	0.03766	DNA-binding HORMA (4);	0.581117	0.17993	N	0.155158	T	0.25344	0.0616	L	0.54323	1.7	0.21386	N	0.999703	P	0.48016	0.904	P	0.46940	0.532	T	0.22173	-1.0224	10	0.25751	T	0.34	-0.824	6.3177	0.21200	0.6383:0.0:0.2103:0.1515	.	158	Q8N7B1	HORM2_HUMAN	F	158	ENSP00000336984:V158F;ENSP00000385055:V158F	ENSP00000336984:V158F	V	+	1	0	HORMAD2	28847682	0.537000	0.26386	0.609000	0.28983	0.990000	0.78478	0.650000	0.24858	-0.549000	0.06191	0.655000	0.94253	GTT	.		0.348	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	NM_152510	
HR	55806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	21986470	21986470	+	Missense_Mutation	SNP	T	T	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:21986470T>G	ENST00000381418.4	-	2	1694	c.214A>C	c.(214-216)Atg>Ctg	p.M72L	HR_ENST00000312841.8_Missense_Mutation_p.M72L|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	72					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGTGGGAGCATGTCCTTGGGG	0.662																																					p.M72L		.											.	HR	154	0			c.A214C						.						40.0	43.0	42.0					8																	21986470		2203	4300	6503	SO:0001583	missense	55806	exon2			GGAGCATGTCCTT	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.214A>C	8.37:g.21986470T>G	ENSP00000370826:p.Met72Leu	83.0	0.0		60.0	20.0	NM_018411	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716994	0.30413	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70399	-0.48;-0.48	4.8	-0.255	0.12988	.	1.001710	0.08053	N	0.996871	T	0.46776	0.1410	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.37407	-0.9707	10	0.72032	D	0.01	1.3083	4.1172	0.10088	0.0:0.3827:0.2242:0.3931	.	72;72;72	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	L	72	ENSP00000370826:M72L;ENSP00000326765:M72L	ENSP00000326765:M72L	M	-	1	0	HR	22042415	0.030000	0.19436	0.361000	0.25849	0.536000	0.34869	-0.139000	0.10358	0.064000	0.16427	0.459000	0.35465	ATG	.		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1		
HRNR	388697	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	152192435	152192435	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:152192435C>G	ENST00000368801.2	-	3	1745	c.1670G>C	c.(1669-1671)aGc>aCc	p.S557T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	557					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCATAGCTGGAAGACTG	0.587																																					p.S557T		.											.	HRNR	93	0			c.G1670C						.						148.0	158.0	154.0					1																	152192435		2203	4300	6503	SO:0001583	missense	388697	exon3			CCATAGCTGGAAG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1670G>C	1.37:g.152192435C>G	ENSP00000357791:p.Ser557Thr	255.0	0.0		291.0	27.0	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.104	0.204884	0.09704	.	.	ENSG00000197915	ENST00000368801	T	0.02787	4.16	3.92	1.99	0.26369	.	.	.	.	.	T	0.00552	0.0018	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.46176	-0.9210	9	0.16896	T	0.51	.	4.1562	0.10261	0.0:0.5902:0.1939:0.2159	.	557	Q86YZ3	HORN_HUMAN	T	557	ENSP00000357791:S557T	ENSP00000357791:S557T	S	-	2	0	HRNR	150459059	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.357000	0.20199	0.322000	0.23283	-0.265000	0.10407	AGC	.		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
HSPA4L	22824	hgsc.bcm.edu;bcgsc.ca	37	4	128716923	128716923	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:128716923A>G	ENST00000296464.4	+	3	577	c.166A>G	c.(166-168)Ata>Gta	p.I56V	HSPA4L_ENST00000439123.2_Splice_Site_p.I87V|HSPA4L_ENST00000508776.1_Splice_Site_p.I56V|HSPA4L_ENST00000505726.1_Splice_Site_p.I30V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	56					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGCCAACAGATAGTCACGAA	0.368																																					p.I56V		.											.	HSPA4L	228	0			c.A166G						.						78.0	76.0	77.0					4																	128716923		2203	4300	6503	SO:0001630	splice_region_variant	22824	exon3			CAACAGATAGTCA	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.166-1A>G	4.37:g.128716923A>G		198.0	0.0		117.0	5.0	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	2.046	-0.418818	0.04766	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01406	5.62;5.62;5.62;4.93;5.62	4.51	4.51	0.55191	.	0.069562	0.64402	D	0.000007	T	0.00724	0.0024	N	0.01624	-0.795	0.49051	D	0.99974	B;B;B	0.30068	0.019;0.267;0.267	B;B;B	0.33799	0.035;0.17;0.17	T	0.67711	-0.5600	9	.	.	.	.	8.6728	0.34161	0.915:0.0:0.085:0.0	.	30;56;56	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	V	56;87;56;56;30	ENSP00000422482:I56V;ENSP00000393926:I87V;ENSP00000296464:I56V;ENSP00000427305:I56V;ENSP00000425645:I30V	.	I	+	1	0	HSPA4L	128936373	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.199000	0.51043	1.902000	0.55061	0.383000	0.25322	ATA	.		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	Missense_Mutation
IARS	3376	hgsc.bcm.edu;bcgsc.ca	37	9	95012165	95012165	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:95012165T>C	ENST00000375643.3	-	25	2857	c.2591A>G	c.(2590-2592)aAg>aGg	p.K864R	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.K864R|IARS_ENST00000447699.2_Missense_Mutation_p.K754R	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	864					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCCAAAGACTTGATATCTTT	0.368																																					p.K864R		.											.	IARS	92	0			c.A2591G						.						130.0	137.0	135.0					9																	95012165		2203	4299	6502	SO:0001583	missense	3376	exon25			AAAGACTTGATAT	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2591A>G	9.37:g.95012165T>C	ENSP00000364794:p.Lys864Arg	144.0	0.0		78.0	4.0	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.391846	0.25118	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.56776	0.44;0.44;0.44	5.88	-6.57	0.01842	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.506148	0.25299	N	0.031679	T	0.31544	0.0800	N	0.17248	0.465	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.17098	0.017;0.001;0.002	T	0.04565	-1.0942	10	0.19590	T	0.45	-2.3002	18.3501	0.90336	0.0:0.6125:0.0:0.3875	.	374;864;709	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	R	864;864;754;864;96	ENSP00000364794:K864R;ENSP00000406448:K864R;ENSP00000415020:K754R	ENSP00000364794:K864R	K	-	2	0	IARS	94051986	0.984000	0.35163	0.060000	0.19600	0.939000	0.58152	0.465000	0.22004	-1.152000	0.02832	-0.326000	0.08463	AAG	.		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
IFIT1	3434	hgsc.bcm.edu;bcgsc.ca	37	10	91163429	91163429	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:91163429T>C	ENST00000371804.3	+	2	1564	c.1397T>C	c.(1396-1398)cTg>cCg	p.L466P	IFIT1_ENST00000546318.1_Missense_Mutation_p.L435P|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	466					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCCCTGAGACTGGCTGCTGAC	0.438																																					p.L466P		.											.	IFIT1	90	0			c.T1397C						.						44.0	46.0	45.0					10																	91163429		2203	4300	6503	SO:0001583	missense	3434	exon2			TGAGACTGGCTGC	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1397T>C	10.37:g.91163429T>C	ENSP00000360869:p.Leu466Pro	118.0	0.0		99.0	5.0	NM_001548	B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476738	0.44044	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.74315	-0.83;-0.83	5.05	3.84	0.44239	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.678072	0.11935	U	0.515315	D	0.85478	0.5706	M	0.81682	2.555	0.09310	N	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73616	-0.3926	10	0.87932	D	0	.	10.0811	0.42391	0.2643:0.0:0.0:0.7357	.	466;466	Q5T7J1;P09914	.;IFIT1_HUMAN	P	466;435	ENSP00000360869:L466P;ENSP00000441968:L435P	ENSP00000360869:L466P	L	+	2	0	IFIT1	91153409	0.003000	0.15002	0.020000	0.16555	0.646000	0.38490	0.809000	0.27168	2.010000	0.58986	0.528000	0.53228	CTG	.		0.438	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548	
IGSF1	3547	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	130408626	130408626	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:130408626T>A	ENST00000361420.3	-	18	3777	c.3698A>T	c.(3697-3699)tAc>tTc	p.Y1233F	IGSF1_ENST00000370910.1_Missense_Mutation_p.Y1224F|IGSF1_ENST00000370904.1_Missense_Mutation_p.Y1224F|IGSF1_ENST00000370903.3_Missense_Mutation_p.Y1238F|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1233	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATATCAGGGTAGGCCTGGAG	0.527																																					p.Y1238F		.											.	IGSF1	133	0			c.A3713T						.						169.0	157.0	161.0					X																	130408626		2203	4300	6503	SO:0001583	missense	3547	exon18			TCAGGGTAGGCCT	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3698A>T	X.37:g.130408626T>A	ENSP00000355010:p.Tyr1233Phe	187.0	0.0		140.0	11.0	NM_001170961	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477748	0.26511	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00730	5.77;5.77;5.77;5.77	5.42	1.24	0.21308	Immunoglobulin-like fold (1);	1.128570	0.06730	N	0.776543	T	0.00608	0.0020	N	0.13235	0.315	0.09310	N	1	B;B;P	0.35821	0.273;0.288;0.523	B;B;B	0.36808	0.118;0.233;0.209	T	0.44667	-0.9313	10	0.12103	T	0.63	.	5.3586	0.16075	0.1726:0.0:0.3511:0.4763	.	1224;677;1233	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	F	1224;1233;1224;1238	ENSP00000359947:Y1224F;ENSP00000355010:Y1233F;ENSP00000359941:Y1224F;ENSP00000359940:Y1238F	ENSP00000355010:Y1233F	Y	-	2	0	IGSF1	130236307	0.766000	0.28496	0.988000	0.46212	0.992000	0.81027	0.734000	0.26101	0.251000	0.21505	0.481000	0.45027	TAC	.		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
IGSF3	3321	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	117156433	117156433	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:117156433C>A	ENST00000369486.3	-	4	1551	c.786G>T	c.(784-786)atG>atT	p.M262I	IGSF3_ENST00000318837.6_Missense_Mutation_p.M262I|IGSF3_ENST00000369483.1_Missense_Mutation_p.M262I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	262	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTTTCGGGTCATAGCATACC	0.592																																					p.M262I		.											.	IGSF3	92	0			c.G786T						.						39.0	35.0	36.0					1																	117156433		2203	4299	6502	SO:0001583	missense	3321	exon4			TCGGGTCATAGCA	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.786G>T	1.37:g.117156433C>A	ENSP00000358498:p.Met262Ile	180.0	0.0		135.0	32.0	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136666	0.21123	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.01804	4.64;4.63;4.63	4.77	3.86	0.44501	Immunoglobulin subtype (1);	0.043187	0.85682	N	0.000000	T	0.00552	0.0018	N	0.08118	0	0.53005	D	0.999962	B;B	0.25486	0.127;0.0	B;B	0.41174	0.349;0.002	T	0.42207	-0.9465	10	0.02654	T	1	-56.2366	10.7921	0.46438	0.0:0.9073:0.0:0.0927	.	262;262	O75054;A6NJZ6	IGSF3_HUMAN;.	I	262	ENSP00000358498:M262I;ENSP00000358495:M262I;ENSP00000321184:M262I	ENSP00000321184:M262I	M	-	3	0	IGSF3	116957956	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.624000	0.67764	1.236000	0.43740	0.557000	0.71058	ATG	.		0.592	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
IKBKG	8517	hgsc.bcm.edu;bcgsc.ca	37	X	153770550	153770550	+	5'UTR	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:153770550T>C	ENST00000369607.1	+	0	73				G6PD_ENST00000497281.1_Intron|IKBKG_ENST00000369609.5_Silent_p.S24S|G6PD_ENST00000369620.2_Intron|G6PD_ENST00000393562.2_Intron|G6PD_ENST00000393564.2_Intron			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of neuron death (GO:1901215)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular (GO:0005622)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	linear polyubiquitin binding (GO:1990450)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAATCCCAGTCTCTTCCCCT	0.577																																					p.S24S		.											.	IKBKG	636	0			c.T72C						.						54.0	44.0	47.0					X																	153770550		1568	3578	5146	SO:0001623	5_prime_UTR_variant	8517	exon1			TCCCAGTCTCTTC	AF074382	CCDS14757.1, CCDS48196.1, CCDS48197.1	Xq28	2014-09-17			ENSG00000073009	ENSG00000269335		"""Zinc fingers, C2HC-type containing"""	5961	protein-coding gene	gene with protein product		300248	"""incontinentia pigmenti"""	IP2, IP1		9751060, 10087442, 11590134	Standard	NM_001099857		Approved	IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9	uc011mzr.2	Q9Y6K9	OTTHUMG00000024234	ENST00000369607.1:c.-68T>C	X.37:g.153770550T>C		112.0	0.0		79.0	5.0	NM_001099856	Q7LBY6|Q7Z7F1	Silent	SNP	ENST00000369607.1	37	CCDS14757.1																																																																																			.		0.577	IKBKG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061155.2	NM_003639	
IL11RA	3590	hgsc.bcm.edu;bcgsc.ca	37	9	34659894	34659894	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:34659894A>G	ENST00000555003.1	+	9	2305	c.949A>G	c.(949-951)Act>Gct	p.T317A	CCL27_ENST00000557161.1_5'Flank|RP11-195F19.30_ENST00000564224.1_RNA|IL11RA_ENST00000378817.4_Missense_Mutation_p.T317A|IL11RA_ENST00000602473.1_Missense_Mutation_p.T317A|IL11RA_ENST00000441545.2_Missense_Mutation_p.T317A|IL11RA_ENST00000318041.9_Missense_Mutation_p.T317A			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	317	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AACTCCGAGCACTGGTGAGAG	0.597																																					p.T317A		.											.	IL11RA	227	0			c.A949G						.						36.0	39.0	38.0					9																	34659894		2203	4300	6503	SO:0001583	missense	3590	exon9			CCGAGCACTGGTG	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.949A>G	9.37:g.34659894A>G	ENSP00000450565:p.Thr317Ala	94.0	0.0		51.0	4.0	NM_001142784	Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.270007	0.59540	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.36699	1.4;1.4;1.24;1.4	5.48	1.76	0.24704	.	1.313380	0.05346	N	0.530974	T	0.35595	0.0937	M	0.61703	1.905	0.47374	D	0.999403	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.009	T	0.11036	-1.0604	10	0.23891	T	0.37	-2.1011	7.1989	0.25868	0.5887:0.3248:0.0865:0.0	.	317;317	Q5VZ79;Q14626	.;I11RA_HUMAN	A	317	ENSP00000450565:T317A;ENSP00000394391:T317A;ENSP00000368094:T317A;ENSP00000326500:T317A	ENSP00000326500:T317A	T	+	1	0	IL11RA	34649894	0.035000	0.19736	0.858000	0.33744	0.988000	0.76386	0.791000	0.26915	0.330000	0.23485	0.460000	0.39030	ACT	.		0.597	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784	
IL1R1	3554	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	102791973	102791973	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:102791973T>C	ENST00000410023.1	+	11	1489	c.1171T>C	c.(1171-1173)Tat>Cat	p.Y391H	IL1R1_ENST00000409288.1_Missense_Mutation_p.Y391H|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_Missense_Mutation_p.Y391H|IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.Y391H|IL1R1_ENST00000409329.1_Missense_Mutation_p.Y391H			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	391	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATATATACTGTATCCAAAGAC	0.363																																					p.Y391H		.											.	IL1R1	523	0			c.T1171C						.						305.0	281.0	289.0					2																	102791973		2203	4300	6503	SO:0001583	missense	3554	exon10			ATACTGTATCCAA	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1171T>C	2.37:g.102791973T>C	ENSP00000386380:p.Tyr391His	972.0	2.0		692.0	211.0	NM_000877	Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.434523	0.62955	.	.	ENSG00000115594	ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71;3.71	5.23	4.08	0.47627	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.510935	0.22824	N	0.055194	T	0.23532	0.0569	M	0.87900	2.915	0.35038	D	0.759456	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.983	T	0.35375	-0.9791	10	0.87932	D	0	.	11.1057	0.48201	0.0:0.073:0.0:0.927	.	391;391	P14778;B8ZZ73	IL1R1_HUMAN;.	H	391;391;247;391;391;391	ENSP00000415366:Y391H;ENSP00000387131:Y391H;ENSP00000410461:Y247H;ENSP00000386478:Y391H;ENSP00000386380:Y391H;ENSP00000233946:Y391H	ENSP00000233946:Y391H	Y	+	1	0	IL1R1	102158405	1.000000	0.71417	0.198000	0.23420	0.926000	0.56050	5.760000	0.68793	0.943000	0.37553	0.456000	0.33151	TAT	.		0.363	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		
INO80D	54891	hgsc.bcm.edu;bcgsc.ca	37	2	206893049	206893049	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:206893049C>T	ENST00000403263.1	-	6	1488	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	Y_RNA_ENST00000384656.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	362	Poly-Asp.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCCGCATCATCATCATCTGAC	0.458																																					p.D362N		.											.	INO80D	91	0			c.G1084A						.						65.0	64.0	65.0					2																	206893049		1933	4152	6085	SO:0001583	missense	54891	exon6			CATCATCATCATC		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1084G>A	2.37:g.206893049C>T	ENSP00000384198:p.Asp362Asn	61.0	0.0		59.0	4.0	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431849	0.83776	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.52754	0.65;0.65	5.45	5.45	0.79879	.	0.049789	0.85682	D	0.000000	T	0.45013	0.1321	L	0.27053	0.805	0.45528	D	0.998489	P	0.40731	0.728	P	0.46076	0.503	T	0.17806	-1.0357	10	0.22109	T	0.4	.	19.2666	0.93988	0.0:1.0:0.0:0.0	.	362	Q53TQ3-2	.	N	362;362;257	ENSP00000384198:D362N;ENSP00000402369:D257N	ENSP00000233270:D362N	D	-	1	0	INO80D	206601294	1.000000	0.71417	0.788000	0.31933	0.646000	0.38490	6.761000	0.74945	2.555000	0.86185	0.591000	0.81541	GAT	.		0.458	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759	
IRGC	56269	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	44222899	44222899	+	Silent	SNP	G	G	A	rs570958028		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:44222899G>A	ENST00000244314.5	+	2	388	c.189G>A	c.(187-189)tcG>tcA	p.S63S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	63	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CGGGCGAGTCGGGCGCGGGCA	0.692																																					p.S63S	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC	70	0			c.G189A						.						42.0	46.0	45.0					19																	44222899		2203	4299	6502	SO:0001819	synonymous_variant	56269	exon2			CGAGTCGGGCGCG	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.189G>A	19.37:g.44222899G>A		67.0	1.0		47.0	16.0	NM_019612	Q05BR8	Silent	SNP	ENST00000244314.5	37	CCDS12629.1																																																																																			.		0.692	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
KANSL3	55683	hgsc.bcm.edu;bcgsc.ca	37	2	97276523	97276523	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:97276523C>A	ENST00000431828.1	-	11	1335	c.1259G>T	c.(1258-1260)cGg>cTg	p.R420L	KANSL3_ENST00000440133.1_Missense_Mutation_p.R214L|KANSL3_ENST00000441706.2_Missense_Mutation_p.R333L|KANSL3_ENST00000599854.1_Missense_Mutation_p.R333L|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	420					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AATCTTCTCCCGGAAGTCCTC	0.507																																					p.R420L		.											.	.	.	0			c.G1259T						.						128.0	126.0	126.0					2																	97276523		1904	4128	6032	SO:0001583	missense	55683	exon11			TTCTCCCGGAAGT	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1259G>T	2.37:g.97276523C>A	ENSP00000396749:p.Arg420Leu	93.0	0.0		69.0	4.0	NM_001115016	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187828	0.94923	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.20598	2.06;2.06;2.06	5.92	5.05	0.67936	.	0.050741	0.85682	D	0.000000	T	0.41673	0.1169	L	0.59436	1.845	0.80722	D	1	D;P;D;B	0.89917	1.0;0.761;1.0;0.05	D;B;D;B	0.91635	0.999;0.214;0.998;0.09	T	0.20974	-1.0259	10	0.49607	T	0.09	.	12.8512	0.57858	0.0:0.9215:0.0:0.0785	.	214;420;333;308	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	L	333;308;420;333;214;214;333	ENSP00000396749:R420L;ENSP00000400678:R333L;ENSP00000406207:R214L	ENSP00000346144:R333L	R	-	2	0	KIAA1310	96640250	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.652000	0.83633	1.521000	0.48983	0.557000	0.71058	CGG	.		0.507	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
KAT2A	2648	hgsc.bcm.edu;bcgsc.ca	37	17	40266531	40266531	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:40266531G>T	ENST00000225916.5	-	14	2164	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	704					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTCTCCACAGGGATCTGCCT	0.572																																					p.P704H		.											.	KAT2A	523	0			c.C2111A						.						169.0	160.0	163.0					17																	40266531		2203	4300	6503	SO:0001583	missense	2648	exon14			TCCACAGGGATCT	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2111C>A	17.37:g.40266531G>T	ENSP00000225916:p.Pro704His	104.0	0.0		68.0	4.0	NM_021078	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886894	0.91814	.	.	ENSG00000108773	ENST00000225916	T	0.05855	3.38	4.96	4.96	0.65561	Bromodomain (1);	0.051637	0.85682	D	0.000000	T	0.27384	0.0672	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.02805	-1.1108	10	0.87932	D	0	-8.5427	18.2093	0.89865	0.0:0.0:1.0:0.0	.	704	Q92830	KAT2A_HUMAN	H	704	ENSP00000225916:P704H	ENSP00000225916:P704H	P	-	2	0	KAT2A	37520057	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.813000	0.99286	2.296000	0.77279	0.462000	0.41574	CCT	.		0.572	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078	
KIAA1324L	222223	hgsc.bcm.edu;bcgsc.ca	37	7	86574222	86574222	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:86574222T>C	ENST00000450689.2	-	4	832	c.647A>G	c.(646-648)gAg>gGg	p.E216G	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E216G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E49G	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	216						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAAGAACTCAAAGAAGAT	0.393																																					p.E216G		.											.	KIAA1324L	97	0			c.A647G						.						127.0	111.0	115.0					7																	86574222		692	1591	2283	SO:0001583	missense	222223	exon4			AAGAACTCAAAGA	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.647A>G	7.37:g.86574222T>C	ENSP00000413445:p.Glu216Gly	245.0	0.0		134.0	6.0	NM_001142749	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.796900|4.796900	0.90453|0.90453	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000444627;ENST00000416314;ENST00000398276|ENST00000423294	T;T;T;T|.	0.49432|.	0.78;0.78;0.78;1.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.36972|.	U|.	0.002317|.	T|.	0.74520|.	0.3727|.	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.991;0.998|.	T|.	0.75411|.	-0.3327|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.9345|14.9345	0.70944|0.70944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	216;49|.	A8MWY0;B4DJV3|.	K132L_HUMAN;.|.	G|W	216;216;49;102|176	ENSP00000413445:E216G;ENSP00000397377:E216G;ENSP00000402390:E49G;ENSP00000381325:E102G|.	ENSP00000381325:E102G|.	E|X	-|-	2|3	0|0	KIAA1324L|KIAA1324L	86412158|86412158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.951000|7.951000	0.87819|0.87819	2.189000|2.189000	0.69895|0.69895	0.533000|0.533000	0.62120|0.62120	GAG|TGA	.		0.393	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
KIAA1958	158405	hgsc.bcm.edu;bcgsc.ca	37	9	115421704	115421704	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:115421704C>A	ENST00000337530.6	+	4	1802	c.1506C>A	c.(1504-1506)acC>acA	p.T502T	KIAA1958_ENST00000536272.1_Silent_p.T530T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	502										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCAGCAGCACCTTCAGCTCCT	0.582																																					p.T502T		.											.	KIAA1958	91	0			c.C1506A						.						46.0	43.0	44.0					9																	115421704		2203	4300	6503	SO:0001819	synonymous_variant	158405	exon4			CAGCACCTTCAGC	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1506C>A	9.37:g.115421704C>A		82.0	0.0		73.0	4.0	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	CCDS35108.1																																																																																			.		0.582	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
KLB	152831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	39435941	39435941	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:39435941A>T	ENST00000257408.4	+	2	1034	c.937A>T	c.(937-939)Acg>Tcg	p.T313S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	313	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTCGGAAAACACGATGGATAT	0.468																																					p.T313S		.											.	KLB	69	0			c.A937T						.						122.0	106.0	111.0					4																	39435941		2203	4300	6503	SO:0001583	missense	152831	exon2			GAAAACACGATGG	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.937A>T	4.37:g.39435941A>T	ENSP00000257408:p.Thr313Ser	317.0	0.0		197.0	55.0	NM_175737	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	0.147	-1.095797	0.01858	.	.	ENSG00000134962	ENST00000257408	T	0.30981	1.51	6.17	-3.31	0.04988	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.841312	0.11191	N	0.589895	T	0.13798	0.0334	N	0.16016	0.355	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.37934	-0.9684	10	0.11485	T	0.65	0.1267	9.0259	0.36230	0.3913:0.1226:0.4862:0.0	.	313;313	B7ZL50;Q86Z14	.;KLOTB_HUMAN	S	313	ENSP00000257408:T313S	ENSP00000257408:T313S	T	+	1	0	KLB	39112336	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.460000	0.21924	-0.538000	0.06281	-0.274000	0.10170	ACG	.		0.468	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
KLHDC10	23008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	129761948	129761948	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:129761948A>G	ENST00000335420.5	+	5	819	c.685A>G	c.(685-687)Att>Gtt	p.I229V		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	229						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						AACCGGCTATATTTACAGCAC	0.443																																					p.I229V		.											.	KLHDC10	90	0			c.A685G						.						137.0	108.0	118.0					7																	129761948		2203	4300	6503	SO:0001583	missense	23008	exon5			GGCTATATTTACA		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.685A>G	7.37:g.129761948A>G	ENSP00000334140:p.Ile229Val	232.0	0.0		184.0	67.0	NM_014997	Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847752	0.32606	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.11063	2.81;2.81	5.47	4.11	0.48088	Galactose oxidase, beta-propeller (1);	0.105918	0.64402	D	0.000006	T	0.08133	0.0203	N	0.25789	0.76	0.51012	D	0.999909	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.002;0.001;0.007	T	0.21143	-1.0254	10	0.30078	T	0.28	-11.3778	11.1586	0.48501	0.9152:0.0:0.0848:0.0	.	78;86;229	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	V	229;86	ENSP00000334140:I229V;ENSP00000420034:I86V	ENSP00000334140:I229V	I	+	1	0	KLHDC10	129549184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.421000	0.59848	2.064000	0.61679	0.533000	0.62120	ATT	.		0.443	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2		
KLHL13	90293	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	117053530	117053536	+	Frame_Shift_Del	DEL	TGTAGGA	TGTAGGA	-			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	TGTAGGA	TGTAGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:117053530_117053536delTGTAGGA	ENST00000262820.3	-	4	1427_1433	c.518_524delTCCTACA	c.(517-525)ttcctacagfs	p.FLQ173fs	KLHL13_ENST00000540167.1_Frame_Shift_Del_p.FLQ157fs|KLHL13_ENST00000371876.1_Frame_Shift_Del_p.FLQ122fs|KLHL13_ENST00000545703.1_Frame_Shift_Del_p.FLQ131fs|KLHL13_ENST00000371882.1_Frame_Shift_Del_p.FLQ122fs|KLHL13_ENST00000539496.1_Frame_Shift_Del_p.FLQ176fs|KLHL13_ENST00000469946.1_Frame_Shift_Del_p.FLQ122fs|KLHL13_ENST00000371878.1_Frame_Shift_Del_p.FLQ122fs|KLHL13_ENST00000541812.1_Frame_Shift_Del_p.FLQ157fs	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	173					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGGCAGAATCTGTAGGAAACTGGCAGC	0.386																																					p.176_178del		.											.	KLHL13	556	0			c.527_533del						.																																			SO:0001589	frameshift_variant	90293	exon5			AGAATCTGTAGGA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.518_524delTCCTACA	X.37:g.117053530_117053536delTGTAGGA	ENSP00000262820:p.Phe173fs	343.0	0.0		184.0	0.0	NM_001168299	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Frame_Shift_Del	DEL	ENST00000262820.3	37	CCDS14571.1																																																																																			.		0.386	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
KRTAP4-11	653240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39274140	39274140	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:39274140C>A	ENST00000391413.2	-	1	466	c.428G>T	c.(427-429)aGc>aTc	p.S143I		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	143	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcggcagcagctggagatgct	0.662																																					p.S143I		.											.	.	.	0			c.G428T						.						7.0	12.0	11.0					17																	39274140		688	1586	2274	SO:0001583	missense	653240	exon1			CAGCAGCTGGAGA	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.428G>T	17.37:g.39274140C>A	ENSP00000375232:p.Ser143Ile	148.0	0.0		97.0	18.0	NM_033059	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878322	0.51801	.	.	ENSG00000212721	ENST00000391413	T	0.01516	4.81	4.29	1.58	0.23477	.	.	.	.	.	T	0.03053	0.0090	M	0.83384	2.64	0.09310	N	1	B	0.25850	0.136	B	0.23716	0.048	T	0.39440	-0.9614	9	0.51188	T	0.08	.	2.2044	0.03932	0.1862:0.3472:0.3494:0.1172	.	143	Q9BYQ6	KR411_HUMAN	I	143	ENSP00000375232:S143I	ENSP00000375232:S143I	S	-	2	0	KRTAP4-11	36527666	0.019000	0.18553	0.968000	0.41197	0.759000	0.43091	0.449000	0.21744	0.775000	0.33450	0.397000	0.26171	AGC	.		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
LHX8	431707	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	75602350	75602350	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:75602350C>T	ENST00000294638.5	+	3	745	c.81C>T	c.(79-81)cgC>cgT	p.R27R	LHX8_ENST00000356261.3_Silent_p.R17R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	27					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGAGGACTCGCAAAGGCGCCG	0.682																																					p.R27R		.											.	LHX8	93	0			c.C81T						.						18.0	21.0	20.0					1																	75602350		1785	3340	5125	SO:0001819	synonymous_variant	431707	exon3			GACTCGCAAAGGC	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.81C>T	1.37:g.75602350C>T		163.0	0.0		93.0	20.0	NM_001001933	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																			.		0.682	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
LONRF1	91694	hgsc.bcm.edu;bcgsc.ca	37	8	12586494	12586494	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:12586494A>G	ENST00000398246.3	-	10	1995	c.1926T>C	c.(1924-1926)gtT>gtC	p.V642V	LONRF1_ENST00000533751.1_Silent_p.V285V|LONRF1_ENST00000525024.1_Silent_p.V68V|MIR3926-2_ENST00000578598.1_RNA	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	642	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTTTCCTCCAACTGTATCAA	0.363																																					p.V642V		.											.	LONRF1	91	0			c.T1926C						.						143.0	133.0	136.0					8																	12586494		1843	4089	5932	SO:0001819	synonymous_variant	91694	exon10			TCCTCCAACTGTA	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1926T>C	8.37:g.12586494A>G		311.0	0.0		122.0	6.0	NM_152271	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	CCDS5987.2																																																																																			.		0.363	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271	
LOXL3	84695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	74761507	74761507	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:74761507A>G	ENST00000264094.3	-	11	1946	c.1875T>C	c.(1873-1875)aaT>aaC	p.N625N	LOXL3_ENST00000409549.1_Silent_p.N569N|LOXL3_ENST00000409986.1_Silent_p.N480N|LOXL3_ENST00000393937.2_Silent_p.N480N|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	625	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCTTGGTGCCATTTGGGGTGA	0.512																																					p.N625N		.											.	LOXL3	226	0			c.T1875C						.						201.0	193.0	195.0					2																	74761507		2203	4300	6503	SO:0001819	synonymous_variant	84695	exon11			GGTGCCATTTGGG	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1875T>C	2.37:g.74761507A>G		435.0	0.0		287.0	64.0	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	CCDS1953.1																																																																																			.		0.512	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
LRIT3	345193	hgsc.bcm.edu;bcgsc.ca	37	4	110791336	110791336	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:110791336A>G	ENST00000594814.1	+	4	1431	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	LRIT3_ENST00000379920.3_Silent_p.Q432Q|LRIT3_ENST00000409621.2_Silent_p.Q294Q|LRIT3_ENST00000327908.3_Silent_p.Q294Q	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	477					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTTGGATCAAACAATGCTTA	0.443																																					p.Q477Q		.											.	LRIT3	90	0			c.A1431G						.						79.0	78.0	78.0					4																	110791336		2203	4300	6503	SO:0001819	synonymous_variant	345193	exon4			GGATCAAACAATG	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1431A>G	4.37:g.110791336A>G		214.0	0.0		124.0	5.0	NM_198506	C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	37	CCDS3688.3																																																																																			.		0.443	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506	
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	170136002	170136002	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:170136002T>C	ENST00000263816.3	-	12	1730	c.1445A>G	c.(1444-1446)tAt>tGt	p.Y482C	LRP2_ENST00000443831.1_Missense_Mutation_p.Y482C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	482					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCCACTAGATAGATTTTATT	0.388																																					p.Y482C		.											.	LRP2	175	0			c.A1445G						.						104.0	111.0	108.0					2																	170136002		2203	4300	6503	SO:0001583	missense	4036	exon12			ACTAGATAGATTT		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1445A>G	2.37:g.170136002T>C	ENSP00000263816:p.Tyr482Cys	201.0	0.0		144.0	45.0	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789002	0.49997	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.99304	-5.72;-5.72	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97459	1.0033	9	.	.	.	.	15.7574	0.78046	0.0:0.0:0.0:1.0	.	482;482	E9PC35;P98164	.;LRP2_HUMAN	C	482	ENSP00000263816:Y482C;ENSP00000409813:Y482C	.	Y	-	2	0	LRP2	169844248	1.000000	0.71417	0.954000	0.39281	0.363000	0.29612	7.971000	0.88012	2.136000	0.66102	0.528000	0.53228	TAT	.		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRRC7	57554	hgsc.bcm.edu;bcgsc.ca	37	1	70460299	70460299	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:70460299A>G	ENST00000035383.5	+	9	903	c.873A>G	c.(871-873)ctA>ctG	p.L291L	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Silent_p.L296L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	291						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTACAATGCTACCCAATACAA	0.323																																					p.L291L		.											.	LRRC7	163	0			c.A873G						.						107.0	111.0	110.0					1																	70460299		2203	4300	6503	SO:0001819	synonymous_variant	57554	exon9			AATGCTACCCAAT		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.873A>G	1.37:g.70460299A>G		109.0	0.0		70.0	4.0	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																			.		0.323	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRN3	54674	hgsc.bcm.edu;bcgsc.ca	37	7	110764148	110764148	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:110764148T>C	ENST00000422987.3	+	2	2151	c.1320T>C	c.(1318-1320)gtT>gtC	p.V440V	IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.V440V|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Silent_p.V440V|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	440	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGAGCTATGTTTCCTTTCACT	0.433																																					p.V440V		.											.	LRRN3	154	0			c.T1320C						.						125.0	133.0	130.0					7																	110764148		2203	4300	6503	SO:0001819	synonymous_variant	54674	exon2			CTATGTTTCCTTT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1320T>C	7.37:g.110764148T>C		82.0	0.0		50.0	4.0	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																			.		0.433	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
LSR	51599	hgsc.bcm.edu;bcgsc.ca	37	19	35758316	35758316	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:35758316G>A	ENST00000361790.3	+	9	1752	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R	USF2_ENST00000222305.3_5'Flank|LSR_ENST00000602122.1_Silent_p.R511R|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000354900.3_Silent_p.R512R|LSR_ENST00000360798.3_Silent_p.R463R|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000427250.1_Silent_p.R375R|LSR_ENST00000347609.4_Silent_p.R473R|USF2_ENST00000594064.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	531					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCGCAGCCGGGACGACCTCT	0.687																																					p.R531R		.											.	LSR	90	0			c.G1593A						.						14.0	21.0	19.0					19																	35758316		2169	4240	6409	SO:0001819	synonymous_variant	51599	exon9			CAGCCGGGACGAC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1593G>A	19.37:g.35758316G>A		55.0	0.0		44.0	4.0	NM_205834	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	CCDS12450.1																																																																																			.		0.687	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
MACF1	23499	hgsc.bcm.edu;bcgsc.ca	37	1	39818713	39818713	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:39818713A>G	ENST00000372915.3	+	43	11336	c.11249A>G	c.(11248-11250)aAg>aGg	p.K3750R	MACF1_ENST00000317713.7_Missense_Mutation_p.K1683R|MACF1_ENST00000289893.4_Missense_Mutation_p.K2185R|MACF1_ENST00000545844.1_Missense_Mutation_p.K1683R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.K1683R|MACF1_ENST00000361689.2_Missense_Mutation_p.K1683R|MACF1_ENST00000567887.1_Missense_Mutation_p.K3782R|MACF1_ENST00000564288.1_Missense_Mutation_p.K3745R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3750					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAACAAGAAGAAGATCGAT	0.488																																					p.K1683R		.											.	MACF1	165	0			c.A5048G						.						93.0	80.0	85.0					1																	39818713		2203	4300	6503	SO:0001583	missense	23499	exon40			ACAAGAAGAAGAT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11249A>G	1.37:g.39818713A>G	ENSP00000362006:p.Lys3750Arg	128.0	0.0		80.0	4.0	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	1.898	-0.453738	0.04540	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;D;T	0.87029	0.11;0.18;0.11;0.08;0.27;-2.2;1.28	5.53	1.54	0.23209	.	0.728003	0.13496	N	0.383654	T	0.62877	0.2464	N	0.00926	-1.1	0.58432	D	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.002;0.007;0.002;0.002	T	0.46317	-0.9200	10	0.12430	T	0.62	.	8.6482	0.34018	0.5543:0.0:0.4457:0.0	.	3750;1683;1683;1648	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	R	1683;3750;1683;1683;1683;1832;2185	ENSP00000439537:K1683R;ENSP00000362006:K3750R;ENSP00000354573:K1683R;ENSP00000313438:K1683R;ENSP00000444364:K1683R;ENSP00000437059:K1832R;ENSP00000289893:K2185R	ENSP00000289893:K2185R	K	+	2	0	MACF1	39591300	0.011000	0.17503	0.883000	0.34634	0.527000	0.34593	-0.086000	0.11233	0.025000	0.15241	-0.375000	0.07067	AAG	.		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MAPK14	1432	hgsc.bcm.edu;bcgsc.ca	37	6	36027094	36027094	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:36027094C>T	ENST00000229794.4	+	3	663	c.275C>T	c.(274-276)cCt>cTt	p.P92L	MAPK14_ENST00000229795.3_Missense_Mutation_p.P92L|MAPK14_ENST00000468133.1_Missense_Mutation_p.P15L|MAPK14_ENST00000310795.4_Missense_Mutation_p.P92L	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTTTTTACACCTGCAAGGTCT	0.338																																					p.P92L	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	.											.	MAPK14	1444	0			c.C275T						.						156.0	150.0	152.0					6																	36027094		2203	4300	6503	SO:0001583	missense	1432	exon3			TTACACCTGCAAG	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.275C>T	6.37:g.36027094C>T	ENSP00000229794:p.Pro92Leu	162.0	0.0		86.0	4.0	NM_139012	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185270	0.94885	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	L	0.52759	1.655	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.80764	0.973;0.994;0.963;0.981;0.989	T	0.72972	-0.4129	10	0.87932	D	0	.	17.6208	0.88080	0.0:1.0:0.0:0.0	.	92;92;92;92;92	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	L	92;92;15;92;15	ENSP00000229795:P92L;ENSP00000229794:P92L;ENSP00000419837:P15L;ENSP00000308669:P92L;ENSP00000419141:P15L	ENSP00000229794:P92L	P	+	2	0	MAPK14	36135072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.386000	0.79775	2.704000	0.92352	0.650000	0.86243	CCT	.		0.338	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
MAPKBP1	23005	hgsc.bcm.edu;bcgsc.ca	37	15	42104835	42104835	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:42104835A>G	ENST00000456763.2	+	7	816	c.620A>G	c.(619-621)gAc>gGc	p.D207G	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D207G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D207G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D95G|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D207G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	207										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TATCTCGATGACAGCAAGACC	0.572																																					p.D207G		.											.	MAPKBP1	589	0			c.A620G						.						71.0	65.0	67.0					15																	42104835		2203	4300	6503	SO:0001583	missense	23005	exon7			TCGATGACAGCAA	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.620A>G	15.37:g.42104835A>G	ENSP00000393099:p.Asp207Gly	110.0	0.0		61.0	4.0	NM_001128608	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	19.15	3.771653	0.69992	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.57436	1.18;0.4;0.93;1.23;1.33	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.088446	0.85682	D	0.000000	T	0.53753	0.1816	L	0.29908	0.895	0.45594	D	0.998539	D;P;P;B	0.60575	0.988;0.726;0.629;0.038	P;B;B;B	0.53861	0.736;0.399;0.444;0.12	T	0.48736	-0.9009	10	0.27082	T	0.32	-24.1512	16.4101	0.83708	1.0:0.0:0.0:0.0	.	95;207;207;207	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	207;207;95;207;207	ENSP00000397570:D207G;ENSP00000221214:D207G;ENSP00000260357:D95G;ENSP00000393099:D207G;ENSP00000426154:D207G	ENSP00000221214:D207G	D	+	2	0	MAPKBP1	39892127	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.975000	0.70475	2.280000	0.76307	0.460000	0.39030	GAC	.		0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
MAPT	4137	hgsc.bcm.edu;bcgsc.ca	37	17	44049223	44049223	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:44049223A>G	ENST00000571987.1	+	2	133		c.e2-1		MAPT_ENST00000344290.5_Splice_Site|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Splice_Site|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_5'Flank|MAPT_ENST00000420682.2_Splice_Site|MAPT_ENST00000415613.2_Splice_Site|MAPT_ENST00000262410.5_Splice_Site|MAPT_ENST00000535772.1_Splice_Site|MAPT_ENST00000347967.5_Splice_Site|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000340799.5_Splice_Site|MAPT_ENST00000351559.5_Splice_Site|MAPT_ENST00000431008.3_Splice_Site			P10636	TAU_HUMAN	microtubule-associated protein tau						adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TATGTGTTCCAGAATCTCCCC	0.592																																					.		.											.	MAPT	91	0			c.134-2A>G						.						62.0	58.0	59.0					17																	44049223		2203	4300	6503	SO:0001630	splice_region_variant	4137	exon3			TGTTCCAGAATCT	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.134-1A>G	17.37:g.44049223A>G		85.0	0.0		57.0	4.0	NM_001123066	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Splice_Site	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170024	0.38315	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000354326;ENST00000420682;ENST00000415613	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3055	0.54900	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPT	41405059	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	5.293000	0.65680	2.161000	0.67846	0.459000	0.35465	.	.		0.592	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	Intron
MCM9	254394	hgsc.bcm.edu;bcgsc.ca	37	6	119147383	119147383	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:119147383T>C	ENST00000316316.6	-	12	2174	c.1888A>G	c.(1888-1890)Aga>Gga	p.R630G	MCM9_ENST00000505485.1_5'Flank	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	630					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TCACACTGTCTCTGGTACTGC	0.488																																					p.R630G		.											.	MCM9	515	0			c.A1888G						.																																			SO:0001583	missense	254394	exon11			ACTGTCTCTGGTA	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1888A>G	6.37:g.119147383T>C	ENSP00000314505:p.Arg630Gly	150.0	0.0		105.0	5.0	NM_017696	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	CCDS56447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.21|15.21	2.766742|2.766742	0.49574|0.49574	.|.	.|.	ENSG00000111877|ENSG00000111877	ENST00000458674|ENST00000316316;ENST00000243218	.|T	.|0.03920	.|3.76	5.42|5.42	3.0|3.0	0.34707|0.34707	.|.	.|66.397200	.|0.00166	.|N	.|0.000000	T|T	0.02304|0.02304	0.0071|0.0071	L|L	0.43152|0.43152	1.355|1.355	0.47511|0.47511	D|D	0.999447|0.999447	.|B	.|0.26258	.|0.145	.|B	.|0.23716	.|0.048	T|T	0.27468|0.27468	-1.0073|-1.0073	5|10	.|0.41790	.|T	.|0.15	.|.	7.6793|7.6793	0.28505|0.28505	0.0:0.0725:0.1417:0.7858|0.0:0.0725:0.1417:0.7858	.|.	.|630	.|Q9NXL9	.|MCM9_HUMAN	G|G	121|630;249	.|ENSP00000314505:R630G	.|ENSP00000243218:R249G	E|R	-|-	2|1	0|2	MCM9|MCM9	119254075|119254075	0.298000|0.298000	0.24417|0.24417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	1.646000|1.646000	0.37249|0.37249	0.852000|0.852000	0.35287|0.35287	0.533000|0.533000	0.62120|0.62120	GAG|AGA	.		0.488	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	
MCOLN2	255231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	85431253	85431253	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:85431253C>G	ENST00000370608.3	-	2	283	c.216G>C	c.(214-216)aaG>aaC	p.K72N	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.K44N	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	72					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCATGACTATCTTCAAAATCT	0.398																																					p.K72N		.											.	MCOLN2	94	0			c.G216C						.						114.0	113.0	113.0					1																	85431253		2203	4300	6503	SO:0001583	missense	255231	exon2			GACTATCTTCAAA	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.216G>C	1.37:g.85431253C>G	ENSP00000359640:p.Lys72Asn	186.0	0.0		127.0	23.0	NM_153259	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166249	0.78339	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.58358	0.34;0.34	5.87	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.86097	2.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.77169	-0.2686	10	0.87932	D	0	-16.8897	15.0754	0.72074	0.0:0.9322:0.0:0.0678	.	72	Q8IZK6	MCLN2_HUMAN	N	72;44	ENSP00000359640:K72N;ENSP00000284027:K44N	ENSP00000284027:K44N	K	-	3	2	MCOLN2	85203841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.160000	0.42348	1.620000	0.50308	0.655000	0.94253	AAG	.		0.398	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259	
MDN1	23195	hgsc.bcm.edu;bcgsc.ca	37	6	90438701	90438701	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:90438701T>C	ENST00000369393.3	-	36	5413	c.5298A>G	c.(5296-5298)ttA>ttG	p.L1766L	MDN1_ENST00000428876.1_Silent_p.L1766L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1766					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGCCTTTGCTAATGCTCCCA	0.458																																					p.L1766L		.											.	MDN1	100	0			c.A5298G						.						121.0	111.0	115.0					6																	90438701		2203	4300	6503	SO:0001819	synonymous_variant	23195	exon36			CTTTGCTAATGCT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5298A>G	6.37:g.90438701T>C		170.0	0.0		99.0	4.0	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																			.		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MED16	10025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	890977	890977	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:890977C>T	ENST00000589119.1	-	1	154	c.155G>A	c.(154-156)cGc>cAc	p.R52H	MED16_ENST00000395808.3_Missense_Mutation_p.R52H|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.R52H|MED16_ENST00000312090.6_Missense_Mutation_p.R52H|RNU6-9_ENST00000384776.1_RNA|MED16_ENST00000325464.1_Missense_Mutation_p.R52H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	52					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATCGCTGCGCAGGTCCAT	0.672																																					p.R52H		.											.	MED16	186	0			c.G155A						.						93.0	76.0	82.0					19																	890977		2203	4300	6503	SO:0001583	missense	10025	exon2			TCGCTGCGCAGGT	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.155G>A	19.37:g.890977C>T	ENSP00000464810:p.Arg52His	82.0	0.0		52.0	12.0	NM_005481	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829072	0.90955	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T	0.44482	1.49;0.92;0.92	4.24	3.12	0.35913	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.359113	0.26418	N	0.024497	T	0.35799	0.0944	N	0.19112	0.55	0.38973	D	0.958795	D;P;P;P;P	0.69078	0.997;0.871;0.606;0.871;0.874	P;B;B;P;B	0.52554	0.702;0.365;0.143;0.487;0.293	T	0.29305	-1.0016	10	0.54805	T	0.06	-14.7818	9.5904	0.39543	0.0:0.8454:0.0:0.1546	.	52;52;52;52;52	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	H	52	ENSP00000325612:R52H;ENSP00000308528:R52H;ENSP00000379153:R52H	ENSP00000269814:R52H	R	-	2	0	MED16	841977	0.994000	0.37717	0.616000	0.29078	0.926000	0.56050	3.319000	0.51983	1.923000	0.55706	0.561000	0.74099	CGC	.		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481	
MGAT5B	146664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	74898718	74898718	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:74898718G>T	ENST00000569840.2	+	4	985	c.411G>T	c.(409-411)caG>caT	p.Q137H	MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q137H|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q148H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	137					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGACCAGATCCTGCGCC	0.647																																					p.Q148H		.											.	MGAT5B	93	0			c.G444T						.						26.0	22.0	24.0					17																	74898718		2201	4300	6501	SO:0001583	missense	146664	exon3			GGACCAGATCCTG	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.411G>T	17.37:g.74898718G>T	ENSP00000456037:p.Gln137His	207.0	0.0		117.0	23.0	NM_198955	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049578	0.75846	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.52295	0.68;0.67	5.55	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	L	0.53249	1.67	0.47737	D	0.999508	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.63866	-0.6540	10	0.59425	D	0.04	-29.5481	12.2441	0.54560	0.1644:0.0:0.8356:0.0	.	148;137	Q3V5L5-2;Q3V5L5-5	.;.	H	137;137;148	ENSP00000301618:Q137H;ENSP00000391227:Q148H	ENSP00000301618:Q137H	Q	+	3	2	MGAT5B	72410313	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.444000	0.73452	1.337000	0.45525	0.655000	0.94253	CAG	.		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
KMT2B	9757	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	36222960	36222960	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:36222960T>C	ENST00000222270.7	+	27	5589	c.5589T>C	c.(5587-5589)gcT>gcC	p.A1863A	KMT2B_ENST00000420124.1_Silent_p.A1863A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1863					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTTCGGGGGCTCGAATCAAAG	0.662																																					p.A1863A		.											.	MLL4	697	0			c.T5589C						.						20.0	22.0	21.0					19																	36222960		1889	4097	5986	SO:0001819	synonymous_variant	8085	exon27			GGGGGCTCGAATC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5589T>C	19.37:g.36222960T>C		59.0	0.0		45.0	4.0	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	CCDS46055.1																																																																																			.		0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
MLLT4	4301	hgsc.bcm.edu;bcgsc.ca	37	6	168307929	168307929	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:168307929A>G	ENST00000447894.2	+	13	1729	c.1729A>G	c.(1729-1731)Aga>Gga	p.R577G	MLLT4_ENST00000392108.3_Missense_Mutation_p.R577G|MLLT4_ENST00000392112.1_Missense_Mutation_p.R561G|MLLT4_ENST00000400822.3_Missense_Mutation_p.R576G|MLLT4_ENST00000366806.2_Missense_Mutation_p.R577G|MLLT4_ENST00000351017.4_Missense_Mutation_p.R577G|MLLT4_ENST00000344191.4_Missense_Mutation_p.R577G			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	577					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCCGATGATCAGAGTAGAACA	0.483			T	MLL	AL																																p.R577G		.		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	MLLT4	685	0			c.A1729G						.						132.0	122.0	126.0					6																	168307929		2203	4300	6503	SO:0001583	missense	4301	exon13			ATGATCAGAGTAG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1729A>G	6.37:g.168307929A>G	ENSP00000404595:p.Arg577Gly	209.0	0.0		140.0	6.0	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.38|17.38	3.375781|3.375781	0.61735|0.61735	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|T;T;T;T;T;T;T	.|0.04706	.|3.78;3.67;3.78;3.77;3.57;3.67;3.67	5.14|5.14	-0.115|-0.115	0.13560|0.13560	.|.	.|0.060165	.|0.64402	.|D	.|0.000011	T|T	0.03739|0.03739	0.0106|0.0106	M|M	0.68317|0.68317	2.08|2.08	0.43719|0.43719	D|D	0.99619|0.99619	.|B;P;P;P	.|0.51791	.|0.434;0.818;0.948;0.948	.|B;B;B;P	.|0.47430	.|0.13;0.311;0.442;0.547	T|T	0.37596|0.37596	-0.9699|-0.9699	5|10	.|0.20519	.|T	.|0.43	-5.3428|-5.3428	14.6184|14.6184	0.68565|0.68565	0.3337:0.6663:0.0:0.0|0.3337:0.6663:0.0:0.0	.|.	.|275;576;577;561	.|Q96C95;P55196-5;P55196-6;P55196-2	.|.;.;.;.	R|G	275|577;577;577;577;561;577;576;577	.|ENSP00000341118:R577G;ENSP00000252692:R577G;ENSP00000375956:R577G;ENSP00000355771:R577G;ENSP00000375960:R561G;ENSP00000383623:R576G;ENSP00000404595:R577G	.|ENSP00000345834:R577G	Q|R	+|+	2|1	0|2	MLLT4|MLLT4	168050778|168050778	0.362000|0.362000	0.24980|0.24980	0.002000|0.002000	0.10522|0.10522	0.958000|0.958000	0.62258|0.62258	0.965000|0.965000	0.29319|0.29319	-0.261000|-0.261000	0.09405|0.09405	0.528000|0.528000	0.53228|0.53228	CAG|AGA	.		0.483	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
MOBP	4336	hgsc.bcm.edu;bcgsc.ca	37	3	39554906	39554906	+	3'UTR	SNP	A	A	G	rs369235076		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:39554906A>G	ENST00000420739.1	+	0	843				MOBP_ENST00000383754.3_Missense_Mutation_p.K80R|MOBP_ENST00000396228.1_Missense_Mutation_p.K80R|MOBP_ENST00000428261.1_Missense_Mutation_p.K80R|MOBP_ENST00000415443.1_Missense_Mutation_p.K80R|MOBP_ENST00000447324.1_Missense_Mutation_p.K80R|MOBP_ENST00000479860.1_3'UTR|MOBP_ENST00000311042.6_3'UTR			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein						intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		ACCCCAAAGAAGAAGTGACCA	0.423																																					p.K80R		.											.	MOBP	515	0			c.A239G						.	A	ARG/LYS	0,4406		0,0,2203	122.0	111.0	115.0		239	3.9	1.0	3		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	MOBP	NM_182935.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	80/82	39554906	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	4336	exon4			CAAAGAAGAAGTG	D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.*67A>G	3.37:g.39554906A>G		134.0	0.0		69.0	4.0	NM_182935	A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Missense_Mutation	SNP	ENST00000420739.1	37		.	.	.	.	.	.	.	.	.	.	A	7.322	0.617223	0.14129	0.0	1.16E-4	ENSG00000168314	ENST00000428261;ENST00000415443;ENST00000447324;ENST00000383754;ENST00000396228	.	.	.	5.05	3.92	0.45320	.	.	.	.	.	T	0.61590	0.2359	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.57306	-0.7834	7	0.12430	T	0.62	.	6.9665	0.24625	0.9013:0.0:0.0987:0.0	.	80	Q13875-3	.	R	80	.	ENSP00000373261:K80R	K	+	2	0	MOBP	39529910	0.999000	0.42202	0.989000	0.46669	0.044000	0.14063	2.222000	0.42926	2.254000	0.74563	0.533000	0.62120	AAG	.		0.423	MOBP-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343711.1	NM_006501, NM_182934, NM_182935	
MORN1	79906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	2288951	2288951	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:2288951T>C	ENST00000378531.3	-	10	1129	c.956A>G	c.(955-957)gAc>gGc	p.D319G	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.D319G	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	319										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CAGGGGCACGTCGGCTTCTGC	0.647																																					p.D319G		.											.	MORN1	92	0			c.A956G						.						48.0	53.0	51.0					1																	2288951		2203	4299	6502	SO:0001583	missense	79906	exon10			GGCACGTCGGCTT	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.956A>G	1.37:g.2288951T>C	ENSP00000367792:p.Asp319Gly	253.0	0.0		174.0	38.0	NM_024848	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	CCDS40.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550902	0.27739	.	.	ENSG00000116151	ENST00000378531;ENST00000378529	T;T	0.57907	0.68;0.37	3.2	3.2	0.36748	.	1.555720	0.04109	N	0.314273	T	0.55609	0.1931	M	0.61703	1.905	0.23581	N	0.997363	P;P	0.40180	0.705;0.483	B;B	0.41510	0.359;0.057	T	0.49351	-0.8949	10	0.56958	D	0.05	.	8.163	0.31209	0.0:0.0:0.0:1.0	.	319;319	Q5T089-2;Q5T089	.;MORN1_HUMAN	G	319	ENSP00000367792:D319G;ENSP00000367790:D319G	ENSP00000367790:D319G	D	-	2	0	MORN1	2278811	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.043000	0.12043	1.698000	0.51180	0.460000	0.39030	GAC	.		0.647	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848	
MROH6	642475	hgsc.bcm.edu;bcgsc.ca	37	8	144652226	144652226	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:144652226C>A	ENST00000398882.3	-	7	1309	c.1053G>T	c.(1051-1053)gtG>gtT	p.V351V	MROH6_ENST00000533679.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000524906.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	351	Leu-rich.																CGGCATGTGCCACCATAGCAC	0.642																																					p.V351V		.											.	.	.	0			c.G1053T						.						32.0	40.0	37.0					8																	144652226		2064	4190	6254	SO:0001819	synonymous_variant	642475	exon7			ATGTGCCACCATA	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1053G>T	8.37:g.144652226C>A		79.0	0.0		82.0	5.0	NM_001100878	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.507361	0.44558	.	.	ENSG00000204839	ENST00000529971	T	0.36699	1.24	5.23	3.4	0.38934	.	.	.	.	.	T	0.56307	0.1976	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.57051	-0.7877	8	0.87932	D	0	-49.1988	9.0153	0.36166	0.0:0.7683:0.1483:0.0834	.	364	E9PPP7	.	C	364	ENSP00000436959:G364C	ENSP00000436959:G364C	G	-	1	0	C8orf73	144723369	0.979000	0.34478	0.995000	0.50966	0.825000	0.46686	0.034000	0.13776	0.570000	0.29347	-0.247000	0.11927	GGC	.		0.642	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	
MTHFR	4524	hgsc.bcm.edu;bcgsc.ca	37	1	11854524	11854524	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:11854524G>A	ENST00000376592.1	-	7	1366	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	MTHFR_ENST00000376585.1_Missense_Mutation_p.P454L|MTHFR_ENST00000376583.3_Missense_Mutation_p.P454L|MTHFR_ENST00000376590.3_Missense_Mutation_p.P413L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	413					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTCCTCCTTGGGGGACTTGCT	0.557																																					p.P413L		.											.	MTHFR	90	0			c.C1238T						.						84.0	95.0	91.0					1																	11854524		2203	4300	6503	SO:0001583	missense	4524	exon8			TCCTTGGGGGACT	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1238C>T	1.37:g.11854524G>A	ENSP00000365777:p.Pro413Leu	159.0	0.0		125.0	5.0	NM_005957	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783056	0.49891	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.82526	-1.6;-1.62;-1.6;-1.62	4.88	4.88	0.63580	.	0.103268	0.64402	D	0.000002	T	0.79399	0.4439	M	0.64404	1.975	0.80722	D	1	B;P	0.40000	0.029;0.698	B;B	0.32980	0.01;0.156	T	0.79412	-0.1814	10	0.29301	T	0.29	.	17.3796	0.87401	0.0:0.0:1.0:0.0	.	413;454	P42898;Q5SNW6	MTHR_HUMAN;.	L	413;454;413;454	ENSP00000365777:P413L;ENSP00000365767:P454L;ENSP00000365775:P413L;ENSP00000365770:P454L	ENSP00000365767:P454L	P	-	2	0	MTHFR	11777111	1.000000	0.71417	0.919000	0.36401	0.391000	0.30476	9.253000	0.95501	2.395000	0.81488	0.455000	0.32223	CCC	.		0.557	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	
MTUS1	57509	hgsc.bcm.edu;bcgsc.ca	37	8	17541870	17541870	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:17541870T>C	ENST00000262102.6	-	7	3029	c.2805A>G	c.(2803-2805)gcA>gcG	p.A935A	MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000544260.1_Silent_p.A80A|MTUS1_ENST00000297488.6_Silent_p.A101A|MIR548V_ENST00000584165.1_RNA|MTUS1_ENST00000381869.3_Silent_p.A881A|MTUS1_ENST00000519263.1_Silent_p.A881A|MTUS1_ENST00000381861.3_Silent_p.A182A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	935					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAACTGTCAATGCCTCAAACT	0.468																																					p.A935A		.											.	MTUS1	92	0			c.A2805G						.						142.0	141.0	141.0					8																	17541870		2005	4164	6169	SO:0001819	synonymous_variant	57509	exon7			TGTCAATGCCTCA	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2805A>G	8.37:g.17541870T>C		169.0	0.0		79.0	4.0	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																			.		0.468	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTSS1	9788	hgsc.bcm.edu;bcgsc.ca	37	8	125580779	125580779	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:125580779T>C	ENST00000518547.1	-	7	934		c.e7-2		MTSS1_ENST00000378017.3_Splice_Site|MTSS1_ENST00000431961.2_Splice_Site|MTSS1_ENST00000354184.4_Splice_Site|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000325064.5_Splice_Site|MTSS1_ENST00000524090.1_Silent_p.A43A	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CACCTCTCCCTGCAAAAAACA	0.488																																					.	Esophageal Squamous(160;622 1893 3862 8546 12509)	.											.	MTSS1	91	0			c.461-2A>G						.						54.0	53.0	54.0					8																	125580779		2203	4300	6503	SO:0001630	splice_region_variant	9788	exon8			TCTCCCTGCAAAA	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.461-2A>G	8.37:g.125580779T>C		89.0	0.0		94.0	6.0	NM_014751	J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	ENST00000518547.1	37	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.17|15.17	2.753676|2.753676	0.49362|0.49362	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000522162|ENST00000523179	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71533	.|0.3351	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70920	.|-0.4741	.|4	.|.	.|.	.|.	.|.	15.4446|15.4446	0.75220|0.75220	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|G	-1|1	.|.	.|.	.|R	-|-	.|1	.|2	MTSS1|MTSS1	125649960|125649960	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.670000|0.670000	0.39368|0.39368	7.907000|7.907000	0.87430|0.87430	2.112000|2.112000	0.64535|0.64535	0.533000|0.533000	0.62120|0.62120	.|AGG	.		0.488	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Intron
MUTYH	4595	hgsc.bcm.edu;bcgsc.ca	37	1	45800076	45800076	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:45800076A>G	ENST00000372098.3	-	2	277	c.144T>C	c.(142-144)ccT>ccC	p.P48P	MUTYH_ENST00000372115.3_Silent_p.P48P|MUTYH_ENST00000456914.2_Silent_p.P34P|MUTYH_ENST00000488731.2_Silent_p.P34P|MUTYH_ENST00000531105.1_Silent_p.P34P|MUTYH_ENST00000355498.2_Silent_p.P34P|MUTYH_ENST00000354383.6_Silent_p.P34P|MUTYH_ENST00000372110.3_Silent_p.P48P|MUTYH_ENST00000372104.1_Silent_p.P34P|MUTYH_ENST00000529984.1_Silent_p.P34P|MUTYH_ENST00000448481.1_Silent_p.P34P|MUTYH_ENST00000528332.2_Silent_p.P48P|MUTYH_ENST00000450313.1_Silent_p.P48P|MUTYH_ENST00000528013.2_Silent_p.P34P|MUTYH_ENST00000372100.5_Silent_p.P34P			Q9UIF7	MUTYH_HUMAN	mutY homolog	48					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CACAGGCAGAAGGCTTGGCCT	0.542			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.P48P		.	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	MUTYH	1083	0			c.T144C						.						181.0	137.0	152.0					1																	45800076		2203	4300	6503	SO:0001819	synonymous_variant	4595	exon2	Familial Cancer Database	MAP, MYH-associated polyposis	GGCAGAAGGCTTG	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.144T>C	1.37:g.45800076A>G		109.0	0.0		80.0	4.0	NM_012222	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	CCDS520.1																																																																																			.		0.542	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
MVD	4597	hgsc.bcm.edu;bcgsc.ca	37	16	88724396	88724396	+	Silent	SNP	G	G	T	rs568814170	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:88724396G>T	ENST00000301012.3	-	3	212	c.183C>A	c.(181-183)acC>acA	p.T61T	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	61					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGGTCCTCGGTGAAGTCCT	0.617																																					p.T61T		.											.	MVD	90	0			c.C183A						.						73.0	79.0	77.0					16																	88724396		2198	4300	6498	SO:0001819	synonymous_variant	4597	exon3			GTCCTCGGTGAAG	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.183C>A	16.37:g.88724396G>T		169.0	0.0		115.0	5.0	NM_002461	Q53Y65	Silent	SNP	ENST00000301012.3	37	CCDS10968.1																																																																																			.		0.617	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461	
MYOM2	9172	hgsc.bcm.edu;bcgsc.ca	37	8	2071186	2071186	+	Missense_Mutation	SNP	C	C	T	rs139807442	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:2071186C>T	ENST00000262113.4	+	29	3656	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	MYOM2_ENST00000523438.1_Missense_Mutation_p.T597M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1172	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTATGAAACGGAGACACTG	0.418																																					p.T1172M		.											.	MYOM2	95	0			c.C3515T						.						115.0	102.0	106.0					8																	2071186		2203	4300	6503	SO:0001583	missense	9172	exon29			ATGAAACGGAGAC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3515C>T	8.37:g.2071186C>T	ENSP00000262113:p.Thr1172Met	157.0	0.0		80.0	4.0	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.587	0.883769	0.17467	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.72615	-0.67;-0.67	5.02	2.0	0.26442	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.440966	0.25872	N	0.027743	T	0.59582	0.2204	N	0.22421	0.69	0.09310	N	1	D	0.54601	0.967	P	0.49192	0.602	T	0.53194	-0.8473	10	0.56958	D	0.05	.	8.2968	0.31990	0.0:0.5994:0.2834:0.1172	.	1172	P54296	MYOM2_HUMAN	M	1172;597	ENSP00000262113:T1172M;ENSP00000428396:T597M	ENSP00000262113:T1172M	T	+	2	0	MYOM2	2058593	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.336000	0.19823	1.214000	0.43395	0.563000	0.77884	ACG	A|0.000;C|1.000;T|0.000		0.418	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
NACC2	138151	hgsc.bcm.edu;bcgsc.ca	37	9	138905769	138905769	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:138905769C>T	ENST00000371753.1	-	3	1156	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	NACC2_ENST00000467669.1_5'Flank|NACC2_ENST00000277554.2_Silent_p.L366L			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	366	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CCCCTGCACACAGGTGGCAGT	0.617																																					p.L366L		.											.	NACC2	90	0			c.G1098A						.						64.0	47.0	53.0					9																	138905769		2202	4300	6502	SO:0001819	synonymous_variant	138151	exon4			TGCACACAGGTGG	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"""BEN domain containing"", ""BTB/POZ domain containing"""	23846	protein-coding gene	gene with protein product	"""BEN domain containing 9"""	615786	"""BTB (POZ) domain containing 14A"""	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1098G>A	9.37:g.138905769C>T		93.0	0.0		72.0	4.0	NM_144653		Silent	SNP	ENST00000371753.1	37	CCDS6993.1																																																																																			.		0.617	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	NM_144653	
NAV3	89795	hgsc.bcm.edu;bcgsc.ca	37	12	78598913	78598913	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:78598913C>A	ENST00000397909.2	+	39	7206	c.7033C>A	c.(7033-7035)Ccc>Acc	p.P2345T	NAV3_ENST00000541270.1_Missense_Mutation_p.P175T|NAV3_ENST00000266692.7_Missense_Mutation_p.P2146T|NAV3_ENST00000536525.2_Missense_Mutation_p.P2323T|NAV3_ENST00000228327.6_Missense_Mutation_p.P2323T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2345						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAAGGAGATCCCCTGGTAAG	0.403										HNSCC(70;0.22)																											p.P2323T		.											.	NAV3	279	0			c.C6967A						.						76.0	83.0	81.0					12																	78598913		1986	4167	6153	SO:0001583	missense	89795	exon38			GGAGATCCCCTGG	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7033C>A	12.37:g.78598913C>A	ENSP00000381007:p.Pro2345Thr	69.0	0.0		58.0	4.0	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.92|17.92	3.507327|3.507327	0.64410|0.64410	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	T;T;T;T;T|.	0.59638|.	0.41;0.44;0.4;0.66;0.25|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.40064|.	U|.	0.001195|.	D|D	0.83514|0.83514	0.5271|0.5271	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.996;0.998;0.998|.	D|D	0.85978|0.85978	0.1481|0.1481	10|5	0.87932|.	D|.	0|.	-13.4514|-13.4514	18.587|18.587	0.91194|0.91194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2323;2146;2345;2323|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	T|Y	2323;2345;2323;2146;175|1217;212	ENSP00000446132:P2323T;ENSP00000381007:P2345T;ENSP00000228327:P2323T;ENSP00000266692:P2146T;ENSP00000444918:P175T|.	ENSP00000228327:P2323T|.	P|S	+|+	1|2	0|0	NAV3|NAV3	77123044|77123044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.358000|0.358000	0.29455|0.29455	7.818000|7.818000	0.86416|0.86416	2.389000|2.389000	0.81357|0.81357	0.467000|0.467000	0.42956|0.42956	CCC|TCC	.		0.403	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NBAS	51594	hgsc.bcm.edu;bcgsc.ca	37	2	15613387	15613387	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:15613387T>C	ENST00000281513.5	-	16	1709	c.1684A>G	c.(1684-1686)Agg>Ggg	p.R562G	NBAS_ENST00000441750.1_Missense_Mutation_p.R562G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	562					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCTGACTTCCTCCACTGCCTC	0.368																																					p.R562G		.											.	NBAS	94	0			c.A1684G						.						122.0	112.0	115.0					2																	15613387		2203	4300	6503	SO:0001583	missense	51594	exon16			ACTTCCTCCACTG	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1684A>G	2.37:g.15613387T>C	ENSP00000281513:p.Arg562Gly	145.0	0.0		90.0	5.0	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985401	0.74474	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.12147	2.71;2.86	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.66939	2.045	0.39949	D	0.974519	D	0.76494	0.999	D	0.80764	0.994	T	0.18967	-1.0320	10	0.87932	D	0	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	562	A2RRP1	NBAS_HUMAN	G	562	ENSP00000413201:R562G;ENSP00000281513:R562G	ENSP00000281513:R562G	R	-	1	2	NBAS	15530838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.173000	0.58249	2.217000	0.71921	0.533000	0.62120	AGG	.		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
NCBP1	4686	hgsc.bcm.edu;bcgsc.ca	37	9	100410502	100410502	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:100410502C>A	ENST00000375147.3	+	8	1150	c.894C>A	c.(892-894)ccC>ccA	p.P298P		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	298					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CAGATGATCCCGAGGTAAGTG	0.428																																					p.P298P	Ovarian(36;879 898 2893 44212 50307)	.											.	NCBP1	90	0			c.C894A						.						69.0	56.0	61.0					9																	100410502		2203	4300	6503	SO:0001819	synonymous_variant	4686	exon8			TGATCCCGAGGTA	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.894C>A	9.37:g.100410502C>A		104.0	0.0		54.0	4.0	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	CCDS6728.1																																																																																			.		0.428	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
NCOA2	10499	hgsc.bcm.edu;bcgsc.ca	37	8	71074948	71074948	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:71074948T>C	ENST00000452400.2	-	9	1155	c.974A>G	c.(973-975)gAa>gGa	p.E325G		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	325					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGCTTACCTTCATGATGATG	0.443			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.E325G		.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	NCOA2	639	0			c.A974G						.						103.0	99.0	101.0					8																	71074948		1938	4137	6075	SO:0001583	missense	10499	exon9			TTACCTTCATGAT	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.974A>G	8.37:g.71074948T>C	ENSP00000399968:p.Glu325Gly	94.0	0.0		88.0	4.0	NM_006540	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037192	0.75617	.	.	ENSG00000140396	ENST00000452400	T	0.20463	2.07	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.76170	2.325	0.80722	D	1	P	0.42078	0.77	B	0.36186	0.219	T	0.14309	-1.0477	10	0.87932	D	0	.	16.0238	0.80522	0.0:0.0:0.0:1.0	.	325	Q15596	NCOA2_HUMAN	G	325	ENSP00000399968:E325G	ENSP00000399968:E325G	E	-	2	0	NCOA2	71237502	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.868000	0.87116	2.367000	0.80283	0.528000	0.53228	GAA	.		0.443	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
NEK4	6787	hgsc.bcm.edu;bcgsc.ca	37	3	52800369	52800369	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:52800369A>G	ENST00000233027.5	-	3	585	c.383T>C	c.(382-384)cTt>cCt	p.L128P	NEK4_ENST00000383721.4_Missense_Mutation_p.L128P|NEK4_ENST00000535191.1_Missense_Mutation_p.L39P	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ATCTCGATGAAGGATGTGTTT	0.333																																					p.L128P		.											.	NEK4	358	0			c.T383C						.						168.0	149.0	155.0					3																	52800369		2203	4300	6503	SO:0001583	missense	6787	exon3			CGATGAAGGATGT	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.383T>C	3.37:g.52800369A>G	ENSP00000233027:p.Leu128Pro	117.0	0.0		97.0	4.0	NM_003157	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582649	0.86748	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.63977	0.2557	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.75161	-0.3415	10	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	39;128;128	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	P	128;39;128;39	ENSP00000233027:L128P;ENSP00000437703:L39P;ENSP00000373227:L128P;ENSP00000419666:L39P	ENSP00000233027:L128P	L	-	2	0	NEK4	52775409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.957000	0.93082	2.268000	0.75426	0.533000	0.62120	CTT	.		0.333	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
NEK11	79858	hgsc.bcm.edu;bcgsc.ca	37	3	130881262	130881262	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:130881262A>G	ENST00000510769.1	+	7	911	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	NEK11_ENST00000507910.1_Missense_Mutation_p.I325V|NEK11_ENST00000412440.2_Missense_Mutation_p.I177V|NEK11_ENST00000510688.1_Missense_Mutation_p.I325V|NEK11_ENST00000511262.1_Missense_Mutation_p.I325V|NEK11_ENST00000356918.4_Missense_Mutation_p.I325V|NEK11_ENST00000429253.2_Missense_Mutation_p.I325V|NEK11_ENST00000508196.1_Missense_Mutation_p.I325V|NEK11_ENST00000383366.4_Missense_Mutation_p.I325V					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GCAAAAAAGGATCCACCTGCA	0.418																																					p.I325V		.											.	NEK11	848	0			c.A973G						.						141.0	164.0	156.0					3																	130881262		2203	4300	6503	SO:0001583	missense	79858	exon11			AAAAGGATCCACC	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.658A>G	3.37:g.130881262A>G	ENSP00000421549:p.Ile220Val	194.0	0.0		146.0	6.0	NM_024800		Missense_Mutation	SNP	ENST00000510769.1	37		.	.	.	.	.	.	.	.	.	.	A	8.264	0.811885	0.16537	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.71461	-0.1;-0.3;-0.43;-0.34;-0.42;-0.3;-0.57;-0.43;-0.3	5.41	0.298	0.15766	.	0.557096	0.16029	N	0.232962	T	0.50769	0.1635	L	0.41710	1.295	0.20403	N	0.999903	B;B;B;B;B;B	0.13594	0.0;0.008;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12156	0.001;0.007;0.0;0.002;0.001;0.001	T	0.21655	-1.0239	10	0.19147	T	0.46	.	1.1536	0.01791	0.268:0.3471:0.2371:0.1478	.	325;220;177;325;325;325	Q8NG66-3;E9PHI8;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;NEK11_HUMAN;.	V	220;325;325;325;325;325;177;325;325	ENSP00000421549:I220V;ENSP00000397180:I325V;ENSP00000349389:I325V;ENSP00000423458:I325V;ENSP00000425114:I325V;ENSP00000372857:I325V;ENSP00000411888:I177V;ENSP00000426662:I325V;ENSP00000421851:I325V	ENSP00000349389:I325V	I	+	1	0	NEK11	132363952	0.993000	0.37304	0.009000	0.14445	0.987000	0.75469	0.654000	0.24918	0.035000	0.15519	0.397000	0.26171	ATC	.		0.418	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800	
NLRP1	22861	hgsc.bcm.edu;bcgsc.ca	37	17	5425083	5425083	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:5425083A>G	ENST00000572272.1	-	13	3543	c.3544T>C	c.(3544-3546)Ttc>Ctc	p.F1182L	NLRP1_ENST00000345221.3_Missense_Mutation_p.F1182L|NLRP1_ENST00000262467.5_Missense_Mutation_p.F1186L|NLRP1_ENST00000269280.4_Missense_Mutation_p.F1182L|NLRP1_ENST00000354411.3_Missense_Mutation_p.F1152L|NLRP1_ENST00000577119.1_Missense_Mutation_p.F1152L			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1182					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCATTTGGAACAGGGATGTG	0.473																																					p.F1186L		.											.	NLRP1	274	0			c.T3556C						.						51.0	55.0	54.0					17																	5425083		2203	4300	6503	SO:0001583	missense	22861	exon13			TTTGGAACAGGGA	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3544T>C	17.37:g.5425083A>G	ENSP00000460475:p.Phe1182Leu	61.0	0.0		51.0	4.0	NM_001033053	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066079	0.76187	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.3	4.3	0.51218	.	0.000000	0.40469	N	0.001090	T	0.56558	0.1993	M	0.83953	2.67	0.31012	N	0.719143	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.983	T	0.64711	-0.6343	10	0.87932	D	0	.	11.7714	0.51960	1.0:0.0:0.0:0.0	.	1152;1152;1182;1182;1186	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	L	1186;1186;1182;1152;1182;448	ENSP00000442029:F1186L;ENSP00000262467:F1186L;ENSP00000269280:F1182L;ENSP00000346390:F1152L;ENSP00000324366:F1182L	ENSP00000262467:F1186L	F	-	1	0	NLRP1	5365807	0.962000	0.33011	0.203000	0.23512	0.946000	0.59487	2.073000	0.41519	1.945000	0.56424	0.529000	0.55759	TTC	.		0.473	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
NLRP5	126206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56565058	56565058	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:56565058C>A	ENST00000390649.3	+	13	3183	c.3183C>A	c.(3181-3183)atC>atA	p.I1061I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1061					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGTGTGATCTCGAGGAGCA	0.572																																					p.I1061I		.											.	NLRP5	162	0			c.C3183A						.						83.0	84.0	84.0					19																	56565058		2097	4218	6315	SO:0001819	synonymous_variant	126206	exon13			TGTGATCTCGAGG	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3183C>A	19.37:g.56565058C>A		148.0	0.0		89.0	20.0	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																			.		0.572	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
NOL4	8715	hgsc.bcm.edu;bcgsc.ca	37	18	31673528	31673528	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:31673528T>C	ENST00000261592.5	-	5	970	c.673A>G	c.(673-675)Atg>Gtg	p.M225V	NOL4_ENST00000269185.4_Missense_Mutation_p.M111V|NOL4_ENST00000538587.1_Missense_Mutation_p.M151V|NOL4_ENST00000535475.1_Missense_Mutation_p.M70V|NOL4_ENST00000589544.1_Missense_Mutation_p.M225V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	225						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAATCACTCATGTCAAATTCA	0.338																																					p.M225V		.											.	NOL4	93	0			c.A673G						.						99.0	93.0	95.0					18																	31673528		2203	4300	6503	SO:0001583	missense	8715	exon5			CACTCATGTCAAA	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.673A>G	18.37:g.31673528T>C	ENSP00000261592:p.Met225Val	103.0	0.0		72.0	4.0	NM_003787	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596418	0.46318	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535475;ENST00000538587	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.67382	0.2887	L	0.58101	1.795	0.43444	D	0.995628	D;B;B;B;B	0.63046	0.992;0.007;0.007;0.452;0.007	P;B;B;P;B	0.59012	0.85;0.01;0.015;0.455;0.01	T	0.64360	-0.6426	9	0.25106	T	0.35	-13.2683	14.7793	0.69754	0.0:0.0:0.0:1.0	.	111;151;225;225;70	B4DLW2;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.	V	225;111;70;151	.	ENSP00000261592:M225V	M	-	1	0	NOL4	29927526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.418000	0.59828	2.088000	0.63022	0.402000	0.26972	ATG	.		0.338	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787	
NOP2	4839	hgsc.bcm.edu;bcgsc.ca	37	12	6669315	6669315	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:6669315A>G	ENST00000322166.5	-	15	1859	c.1738T>C	c.(1738-1740)Ttc>Ctc	p.F580L	NOP2_ENST00000541778.1_Missense_Mutation_p.F576L|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000399466.2_Missense_Mutation_p.F576L|NOP2_ENST00000537442.1_Missense_Mutation_p.F580L|NOP2_ENST00000545200.1_Missense_Mutation_p.F576L|NOP2_ENST00000382421.3_Missense_Mutation_p.F613L	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	580					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTGGCAATGAAGAACCCATCC	0.483																																					p.F613L		.											.	NOP2	92	0			c.T1837C						.						89.0	90.0	90.0					12																	6669315		1867	4116	5983	SO:0001583	missense	4839	exon16			CAATGAAGAACCC		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1738T>C	12.37:g.6669315A>G	ENSP00000313272:p.Phe580Leu	128.0	0.0		67.0	4.0	NM_001258309	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	A	31	5.094226	0.94149	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	4.95	4.95	0.65309	Nop2p (1);Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.140304	0.64402	D	0.000003	T	0.71771	0.3379	H	0.98980	4.39	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.76071	0.976;0.973;0.987	D	0.84132	0.0412	10	0.72032	D	0.01	-22.8313	14.7847	0.69793	1.0:0.0:0.0:0.0	.	576;580;576	Q05BA7;P46087;P46087-2	.;NOP2_HUMAN;.	L	580;613;576;576;580;576	ENSP00000444437:F580L;ENSP00000371858:F613L;ENSP00000439422:F576L;ENSP00000382392:F576L;ENSP00000313272:F580L;ENSP00000443150:F576L	ENSP00000313272:F580L	F	-	1	0	NOP2	6539576	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.895000	0.92512	2.077000	0.62373	0.533000	0.62120	TTC	.		0.483	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
NPHP1	4867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	110926056	110926056	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:110926056T>C	ENST00000393272.3	-	6	694	c.597A>G	c.(595-597)gaA>gaG	p.E199E	NPHP1_ENST00000417665.1_Silent_p.E199E|NPHP1_ENST00000316534.4_Silent_p.E199E|NPHP1_ENST00000445609.2_Silent_p.E199E|NPHP1_ENST00000355301.4_Silent_p.E137E	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	199	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAACAAGACCTTCATTTCCTT	0.348																																					p.E199E		.											.	NPHP1	92	0			c.A597G						.						146.0	149.0	148.0					2																	110926056		2203	4300	6503	SO:0001819	synonymous_variant	4867	exon6			AAGACCTTCATTT	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.597A>G	2.37:g.110926056T>C		119.0	0.0		68.0	20.0	NM_207181	O14837	Silent	SNP	ENST00000393272.3	37	CCDS46385.1																																																																																			.		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
ODF3	113746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	197590	197590	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:197590C>A	ENST00000325113.4	+	3	456	c.139C>A	c.(139-141)Cgt>Agt	p.R47S	ODF3_ENST00000525282.1_Missense_Mutation_p.R47S|ODF3_ENST00000342593.5_Missense_Mutation_p.R47S|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	47					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCAAGCTGCGTGCACCGGC	0.637																																					p.R47S		.											.	ODF3	493	0			c.C139A						.						41.0	40.0	40.0					11																	197590		2203	4300	6503	SO:0001583	missense	113746	exon3			AAGCTGCGTGCAC	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.139C>A	11.37:g.197590C>A	ENSP00000325868:p.Arg47Ser	85.0	0.0		71.0	10.0	NM_053280	B7ZLT0|Q69YX0	Missense_Mutation	SNP	ENST00000325113.4	37	CCDS7688.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377675	0.24944	.	.	ENSG00000177947	ENST00000325113;ENST00000540150;ENST00000342593;ENST00000525282	T;T;T	0.32023	1.49;1.47;1.51	5.02	4.05	0.47172	.	0.000000	0.53938	D	0.000055	T	0.45296	0.1335	L	0.57536	1.79	0.09310	N	0.999999	D;D;D	0.89917	0.98;1.0;0.992	P;D;P	0.81914	0.859;0.995;0.9	T	0.25984	-1.0116	10	0.14656	T	0.56	-8.7064	11.3275	0.49456	0.181:0.819:0.0:0.0	.	47;47;47	B7ZLT0;F8W6Z3;Q96PU9	.;.;ODF3A_HUMAN	S	47	ENSP00000325868:R47S;ENSP00000339623:R47S;ENSP00000436588:R47S	ENSP00000325868:R47S	R	+	1	0	ODF3	187590	0.001000	0.12720	0.112000	0.21494	0.001000	0.01503	0.608000	0.24223	2.497000	0.84241	0.561000	0.74099	CGT	.		0.637	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1		
OR10G2	26534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	22102803	22102803	+	Missense_Mutation	SNP	T	T	C	rs370971403		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:22102803T>C	ENST00000542433.1	-	1	293	c.196A>G	c.(196-198)Att>Gtt	p.I66V		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCAGAAGAATGTACATGGGG	0.517																																					p.I66V		.											.	OR10G2	69	0			c.A196G						.						60.0	60.0	60.0					14																	22102803		2203	4300	6503	SO:0001583	missense	26534	exon1			GAAGAATGTACAT		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.196A>G	14.37:g.22102803T>C	ENSP00000445383:p.Ile66Val	447.0	0.0		290.0	71.0	NM_001005466	B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247993	0.22880	.	.	ENSG00000255582	ENST00000542433	T	0.00463	7.25	3.79	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.156674	0.28549	N	0.014944	T	0.00328	0.0010	L	0.35414	1.06	0.23903	N	0.996517	B	0.12013	0.005	B	0.06405	0.002	T	0.49184	-0.8966	10	0.87932	D	0	-2.1043	4.4135	0.11445	0.1987:0.0:0.2057:0.5955	.	66	Q8NGC3	O10G2_HUMAN	V	66	ENSP00000445383:I66V	ENSP00000445383:I66V	I	-	1	0	OR10G2	21172643	0.967000	0.33354	0.998000	0.56505	0.956000	0.61745	0.488000	0.22371	0.482000	0.27582	0.460000	0.39030	ATT	.		0.517	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1		
OR4S1	256148	hgsc.bcm.edu;bcgsc.ca	37	11	48328087	48328087	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:48328087T>C	ENST00000319988.1	+	1	313	c.313T>C	c.(313-315)Ttt>Ctt	p.F105L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGCCCACTTCTTTGGTGGCAC	0.507																																					p.F105L		.											.	OR4S1	69	0			c.T313C						.						120.0	105.0	110.0					11																	48328087		2201	4288	6489	SO:0001583	missense	256148	exon1			CACTTCTTTGGTG	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.313T>C	11.37:g.48328087T>C	ENSP00000321447:p.Phe105Leu	135.0	0.0		81.0	4.0	NM_001004725	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800804	0.31869	.	.	ENSG00000176555	ENST00000319988	T	0.00381	7.63	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	N	0.21240	0.645	0.28779	N	0.899933	B	0.21309	0.054	B	0.20184	0.028	T	0.46119	-0.9214	9	0.48119	T	0.1	.	12.9764	0.58540	0.0:0.0:0.0:1.0	.	105	Q8NGB4	OR4S1_HUMAN	L	105	ENSP00000321447:F105L	ENSP00000321447:F105L	F	+	1	0	OR4S1	48284663	0.001000	0.12720	0.980000	0.43619	0.358000	0.29455	0.312000	0.19397	2.020000	0.59435	0.533000	0.62120	TTT	.		0.507	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725	
OSBPL7	114881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	45894019	45894019	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:45894019G>T	ENST00000007414.3	-	10	1029	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	OSBPL7_ENST00000392507.3_Missense_Mutation_p.L280M	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	280					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGAGACTCCAGGTAGCGAGAC	0.647																																					p.L280M		.											.	OSBPL7	68	0			c.C838A						.						38.0	41.0	40.0					17																	45894019		2203	4300	6503	SO:0001583	missense	114881	exon10			ACTCCAGGTAGCG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.838C>A	17.37:g.45894019G>T	ENSP00000007414:p.Leu280Met	94.0	0.0		63.0	14.0	NM_145798	D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675705	0.29783	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.19532	2.14;2.14	5.44	1.16	0.20824	.	0.477084	0.19318	N	0.117209	T	0.25827	0.0629	N	0.19112	0.55	0.35967	D	0.835019	D	0.71674	0.998	D	0.83275	0.996	T	0.14531	-1.0469	10	0.41790	T	0.15	-15.9654	8.4614	0.32929	0.3944:0.0:0.6056:0.0	.	280	Q9BZF2	OSBL7_HUMAN	M	280	ENSP00000007414:L280M;ENSP00000376295:L280M	ENSP00000007414:L280M	L	-	1	2	OSBPL7	43249018	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	1.464000	0.35288	0.087000	0.17167	-0.137000	0.14449	CTG	.		0.647	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731	
OSGIN2	734	hgsc.bcm.edu;bcgsc.ca	37	8	90921887	90921887	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:90921887C>T	ENST00000297438.2	+	2	360	c.5C>T	c.(4-6)cCa>cTa	p.P2L	OSGIN2_ENST00000520659.1_Missense_Mutation_p.P46L|OSGIN2_ENST00000451899.2_Missense_Mutation_p.P46L	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	2					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAGCGATGCCATTAGTTGAA	0.313																																					p.P46L		.											.	OSGIN2	68	0			c.C137T						.						94.0	93.0	93.0					8																	90921887		2203	4300	6503	SO:0001583	missense	734	exon2			CGATGCCATTAGT	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.5C>T	8.37:g.90921887C>T	ENSP00000297438:p.Pro2Leu	141.0	0.0		121.0	6.0	NM_001126111		Missense_Mutation	SNP	ENST00000297438.2	37	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627997	0.87560	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	T;T;T	0.55052	1.66;1.55;0.54	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.946	T	0.73379	-0.4001	10	0.87932	D	0	-10.7578	16.9813	0.86328	0.0:1.0:0.0:0.0	.	46;2	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	L	2;46;46	ENSP00000297438:P2L;ENSP00000396445:P46L;ENSP00000431029:P46L	ENSP00000297438:P2L	P	+	2	0	OSGIN2	90991061	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.498000	0.73679	2.430000	0.82344	0.462000	0.41574	CCA	.		0.313	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337	
OTUD3	23252	hgsc.bcm.edu;bcgsc.ca	37	1	20224100	20224100	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:20224100A>G	ENST00000375120.3	+	4	552	c.551A>G	c.(550-552)gAc>gGc	p.D184G	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	184	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCACTACGACAGTGTTCGG	0.532																																					p.D184G		.											.	.	.	0			c.A551G						.						114.0	114.0	114.0					1																	20224100		2035	4196	6231	SO:0001583	missense	23252	exon4			ACTACGACAGTGT	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.551A>G	1.37:g.20224100A>G	ENSP00000364261:p.Asp184Gly	89.0	0.0		75.0	4.0	NM_015207	O75047	Missense_Mutation	SNP	ENST00000375120.3	37	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988821	0.93106	.	.	ENSG00000169914	ENST00000375120	T	0.59638	0.25	5.78	5.78	0.91487	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	M	0.88310	2.945	0.80722	D	1	D	0.60160	0.987	P	0.62089	0.898	T	0.82559	-0.0397	10	0.72032	D	0.01	.	14.9445	0.71020	1.0:0.0:0.0:0.0	.	184	Q5T2D3	OTUD3_HUMAN	G	184	ENSP00000364261:D184G	ENSP00000364261:D184G	D	+	2	0	OTUD3	20096687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.501000	0.90501	2.205000	0.71048	0.533000	0.62120	GAC	.		0.532	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1		
PABPC1L	80336	hgsc.bcm.edu;bcgsc.ca	37	20	43552887	43552887	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:43552887C>T	ENST00000217073.2	+	7	962	c.962C>T	c.(961-963)aCc>aTc	p.T321I	PABPC1L_ENST00000255136.3_Missense_Mutation_p.T321I|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_Missense_Mutation_p.T321I|PABPC1L_ENST00000217074.4_Missense_Mutation_p.T321I			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	321	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGAGTAATTACCAGTGCGAAG	0.572																																					p.T321I		.											.	PABPC1L	47	0			c.C962T						.						106.0	97.0	100.0					20																	43552887		1568	3582	5150	SO:0001583	missense	80336	exon7			TAATTACCAGTGC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.962C>T	20.37:g.43552887C>T	ENSP00000217073:p.Thr321Ile	63.0	0.0		44.0	4.0	NM_001124756	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732363	0.89482	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.31065	0.9	0.80722	D	1	D	0.58268	0.982	P	0.60949	0.881	T	0.02498	-1.1150	10	0.72032	D	0.01	.	18.5905	0.91210	0.0:1.0:0.0:0.0	.	321	Q4VXU2	PAP1L_HUMAN	I	321	ENSP00000217074:T321I;ENSP00000255136:T321I;ENSP00000445661:T321I;ENSP00000217073:T321I	ENSP00000217073:T321I	T	+	2	0	PABPC1L	42986301	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.723000	0.84788	2.496000	0.84212	0.655000	0.94253	ACC	.		0.572	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	30725244	30725244	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:30725244G>T	ENST00000361762.2	+	1	3208	c.2200G>T	c.(2200-2202)Gat>Tat	p.D734Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D734Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	734	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTTTGTGATGGATGAAAATGA	0.473																																					p.D734Y		.											.	PCDH7	229	0			c.G2200T						.						102.0	97.0	98.0					4																	30725244		2203	4300	6503	SO:0001583	missense	5099	exon1			GTGATGGATGAAA	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2200G>T	4.37:g.30725244G>T	ENSP00000355243:p.Asp734Tyr	238.0	0.0		141.0	35.0	NM_032457	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.334506|3.334506	0.60853|0.60853	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.67865|.	-0.29;-0.29|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.91092|0.91092	0.7196|0.7196	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.94623|0.94623	0.7815|0.7815	9|5	0.87932|.	D|.	0|.	.|.	18.588|18.588	0.91197|0.91197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	734;687;734|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Y|V	734;734;687|423	ENSP00000355243:D734Y;ENSP00000441802:D734Y|.	ENSP00000330302:D687Y|.	D|G	+|+	1|2	0|0	PCDH7|PCDH7	30334342|30334342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.652000|9.652000	0.98499|0.98499	2.612000|2.612000	0.88384|0.88384	0.655000|0.655000	0.94253|0.94253	GAT|GGA	.		0.473	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PDXDC1	23042	hgsc.bcm.edu;bcgsc.ca	37	16	15128199	15128199	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:15128199G>T	ENST00000396410.4	+	20	1966	c.1869G>T	c.(1867-1869)gaG>gaT	p.E623D	PDXDC1_ENST00000569715.1_Missense_Mutation_p.E596D|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E608D|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E595D|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E532D|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E641D	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	623					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAAGTGGAGCTGCAGAAGG	0.552																																					p.E623D		.											.	PDXDC1	91	0			c.G1869T						.						66.0	63.0	64.0					16																	15128199		2197	4300	6497	SO:0001583	missense	23042	exon20			AGTGGAGCTGCAG	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1869G>T	16.37:g.15128199G>T	ENSP00000379691:p.Glu623Asp	97.0	0.0		73.0	4.0	NM_015027	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	7.010	0.556575	0.13436	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.76	-2.86	0.05717	.	0.099987	0.64402	D	0.000001	T	0.30230	0.0758	N	0.01761	-0.735	0.24003	N	0.996208	B;B;B;B	0.28208	0.06;0.203;0.06;0.102	B;B;B;B	0.24006	0.05;0.05;0.05;0.05	T	0.47235	-0.9133	10	0.05833	T	0.94	-9.0895	6.6986	0.23213	0.4758:0.0:0.4124:0.1118	.	595;532;595;623	E7EPL4;E7EMH5;B4DR55;Q6P996	.;.;.;PDXD1_HUMAN	D	608;532;623;595	ENSP00000322807:E608D;ENSP00000400310:E532D;ENSP00000379691:E623D;ENSP00000391147:E595D	ENSP00000322807:E608D	E	+	3	2	PDXDC1	15035700	1.000000	0.71417	0.932000	0.37286	0.882000	0.50991	0.559000	0.23485	-0.420000	0.07427	-0.140000	0.14226	GAG	.		0.552	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	
PIGS	94005	hgsc.bcm.edu;bcgsc.ca	37	17	26888474	26888474	+	Missense_Mutation	SNP	G	G	T	rs116094938		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:26888474G>T	ENST00000308360.7	-	6	1017	c.642C>A	c.(640-642)agC>agA	p.S214R	PIGS_ENST00000543734.1_Missense_Mutation_p.S153R|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.S206R	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	214					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTTCTCAGCGCTCCACTTGT	0.577																																					p.S214R		.											.	PIGS	289	0			c.C642A						.						71.0	58.0	63.0					17																	26888474		2203	4300	6503	SO:0001583	missense	94005	exon6			CTCAGCGCTCCAC		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.642C>A	17.37:g.26888474G>T	ENSP00000309430:p.Ser214Arg	141.0	0.0		82.0	5.0	NM_033198	Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306199	0.81247	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.47869	0.85;0.85;0.83	5.68	3.69	0.42338	.	0.150347	0.85682	D	0.000000	T	0.57799	0.2078	L	0.49126	1.545	0.38285	D	0.942535	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	T	0.56637	-0.7946	10	0.17832	T	0.49	-16.7225	12.2614	0.54652	0.1406:0.0:0.8594:0.0	.	214;206	Q96S52;Q96S52-2	PIGS_HUMAN;.	R	206;214;153	ENSP00000378755:S206R;ENSP00000309430:S214R;ENSP00000438447:S153R	ENSP00000309430:S214R	S	-	3	2	PIGS	23912601	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.504000	0.45416	1.411000	0.46957	0.655000	0.94253	AGC	G|1.000;A|0.000		0.577	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198	
PHF12	57649	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	27251158	27251158	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:27251158T>C	ENST00000332830.4	-	4	1294	c.484A>G	c.(484-486)Agc>Ggc	p.S162G	PHF12_ENST00000577226.1_Missense_Mutation_p.S162G|PHF12_ENST00000582655.1_5'UTR|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000268756.3_Missense_Mutation_p.S162G|RP11-20B24.5_ENST00000580782.1_RNA	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)			CCAGGCCTGCTGGCTCTCCTT	0.557																																					p.S162G		.											.	PHF12	91	0			c.A484G						.						91.0	74.0	79.0					17																	27251158		2203	4300	6503	SO:0001583	missense	57649	exon4			GCCTGCTGGCTCT	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.484A>G	17.37:g.27251158T>C	ENSP00000329933:p.Ser162Gly	275.0	0.0		186.0	8.0	NM_020889		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575786	0.86645	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.96491	-3.71;-4.03;-4.03	5.69	5.69	0.88448	.	0.077767	0.85682	D	0.000000	D	0.97158	0.9071	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.69078	0.993;0.996;0.997;0.993	D;D;D;D	0.73380	0.956;0.98;0.97;0.956	D	0.96850	0.9624	10	0.39692	T	0.17	-11.6092	14.7509	0.69525	0.0:0.0:0.0:1.0	.	144;162;162;162	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	G	162	ENSP00000329933:S162G;ENSP00000368157:S162G;ENSP00000268756:S162G	ENSP00000268756:S162G	S	-	1	0	PHF12	24275284	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.866000	0.69590	2.163000	0.67991	0.533000	0.62120	AGC	.		0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
PIP4K2B	8396	hgsc.bcm.edu;bcgsc.ca	37	17	36934625	36934625	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:36934625C>T	ENST00000269554.3	-	6	1135	c.655G>A	c.(655-657)Ggt>Agt	p.G219S	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	219	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ACCGTAGAACCCTGAAAGGAT	0.532																																					p.G219S		.											.	PIP4K2B	266	0			c.G655A						.						159.0	153.0	155.0					17																	36934625		2203	4300	6503	SO:0001630	splice_region_variant	8396	exon6			TAGAACCCTGAAA	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.655-1G>A	17.37:g.36934625C>T		71.0	0.0		55.0	4.0	NM_003559	Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475791	0.96291	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.79454	-1.27	4.82	4.82	0.62117	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.052327	0.85682	D	0.000000	D	0.93067	0.7793	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.95751	0.8792	10	0.87932	D	0	-13.5437	16.6288	0.85011	0.0:1.0:0.0:0.0	.	219;219;219	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	S	219	ENSP00000269554:G219S	ENSP00000269554:G219S	G	-	1	0	PIP4K2B	34188151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.110000	0.77069	2.516000	0.84829	0.561000	0.74099	GGT	.		0.532	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	Missense_Mutation
PIP4K2C	79837	hgsc.bcm.edu;bcgsc.ca	37	12	57989718	57989718	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:57989718T>C	ENST00000354947.5	+	4	433	c.417T>C	c.(415-417)ggT>ggC	p.G139G	PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Silent_p.G139G|PIP4K2C_ENST00000550465.1_Silent_p.G121G			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	139	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GCAGTGATGGTCGCTTCCTTA	0.502																																					p.G139G		.											.	PIP4K2C	689	0			c.T417C						.						155.0	137.0	143.0					12																	57989718		2203	4300	6503	SO:0001819	synonymous_variant	79837	exon4			TGATGGTCGCTTC	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.417T>C	12.37:g.57989718T>C		146.0	0.0		87.0	4.0	NM_001146258	B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	CCDS8946.1																																																																																			.		0.502	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	
PKDREJ	10343	hgsc.bcm.edu;bcgsc.ca	37	22	46656423	46656423	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:46656423T>C	ENST00000253255.5	-	1	2796	c.2797A>G	c.(2797-2799)Atg>Gtg	p.M933V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	933					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTCCTGTCATTCTGAATCCA	0.413																																					p.M933V		.											.	PKDREJ	156	0			c.A2797G						.						160.0	169.0	166.0					22																	46656423		2203	4300	6503	SO:0001583	missense	10343	exon1			CTGTCATTCTGAA	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2797A>G	22.37:g.46656423T>C	ENSP00000253255:p.Met933Val	114.0	0.0		84.0	6.0	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563031	0.45694	.	.	ENSG00000130943	ENST00000253255	T	0.40756	1.02	5.33	3.17	0.36434	.	0.439248	0.23442	N	0.048134	T	0.33265	0.0857	L	0.59436	1.845	0.30837	N	0.736037	P	0.38788	0.647	B	0.32465	0.146	T	0.40813	-0.9543	10	0.72032	D	0.01	-25.1043	6.6959	0.23199	0.1365:0.0746:0.0:0.7889	.	933	Q9NTG1	PKDRE_HUMAN	V	933	ENSP00000253255:M933V	ENSP00000253255:M933V	M	-	1	0	PKDREJ	45035087	0.995000	0.38212	0.860000	0.33809	0.577000	0.36160	1.704000	0.37857	0.407000	0.25591	0.533000	0.62120	ATG	.		0.413	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PLAC1	10761	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	133700150	133700150	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:133700150G>A	ENST00000359237.4	-	3	848	c.563C>T	c.(562-564)cCt>cTt	p.P188L	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGCTGCAGAGGTTGAGCCTC	0.502																																					p.P188L		.											.	PLAC1	131	0			c.C563T						.						123.0	107.0	112.0					X																	133700150		2203	4300	6503	SO:0001583	missense	10761	exon3			TGCAGAGGTTGAG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.563C>T	X.37:g.133700150G>A	ENSP00000352173:p.Pro188Leu	96.0	1.0		127.0	86.0	NM_021796		Missense_Mutation	SNP	ENST00000359237.4	37	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.374349	0.01214	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.4	-0.608	0.11611	.	.	.	.	.	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32481	-0.9905	8	0.14252	T	0.57	2.5233	7.6305	0.28236	0.6124:0.0:0.3876:0.0	.	188	Q9HBJ0	PLAC1_HUMAN	L	188	.	ENSP00000352173:P188L	P	-	2	0	PLAC1	133527816	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.150000	0.16263	-0.283000	0.09115	0.600000	0.82982	CCT	.		0.502	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796	
PLEC	5339	hgsc.bcm.edu;bcgsc.ca	37	8	144991777	144991777	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:144991777A>G	ENST00000322810.4	-	32	12792	c.12623T>C	c.(12622-12624)cTc>cCc	p.L4208P	PLEC_ENST00000398774.2_Missense_Mutation_p.L4039P|PLEC_ENST00000356346.3_Missense_Mutation_p.L4057P|PLEC_ENST00000354589.3_Missense_Mutation_p.L4071P|PLEC_ENST00000436759.2_Missense_Mutation_p.L4098P|PLEC_ENST00000527096.1_Missense_Mutation_p.L4094P|PLEC_ENST00000357649.2_Missense_Mutation_p.L4075P|PLEC_ENST00000345136.3_Missense_Mutation_p.L4071P|PLEC_ENST00000354958.2_Missense_Mutation_p.L4049P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4208	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCATCGAAGAGGCCGCGCTT	0.637																																					p.L4208P		.											.	PLEC	141	0			c.T12623C						.						52.0	56.0	55.0					8																	144991777		2048	4197	6245	SO:0001583	missense	5339	exon32			TCGAAGAGGCCGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12623T>C	8.37:g.144991777A>G	ENSP00000323856:p.Leu4208Pro	127.0	0.0		144.0	6.0	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	8.976	0.974112	0.18736	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.14	3.97	0.46021	.	0.101407	0.39475	U	0.001347	D	0.90693	0.7080	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.76071	0.964;0.977;0.977;0.987;0.977;0.977;0.977;0.977	D	0.90929	0.4789	10	0.72032	D	0.01	.	11.1141	0.48249	0.8614:0.0:0.0:0.1386	.	4098;4057;4049;4208;4039;4071;4075;4071	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	4071;4075;4071;4039;4208;4049;4057;4098;4094	ENSP00000344848:L4071P;ENSP00000350277:L4075P;ENSP00000346602:L4071P;ENSP00000381756:L4039P;ENSP00000323856:L4208P;ENSP00000347044:L4049P;ENSP00000348702:L4057P;ENSP00000388180:L4098P;ENSP00000434583:L4094P	ENSP00000323856:L4208P	L	-	2	0	PLEC	145063765	1.000000	0.71417	0.993000	0.49108	0.687000	0.40016	7.240000	0.78192	0.949000	0.37715	0.448000	0.29417	CTC	.		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PMEL	6490	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	56351868	56351868	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:56351868C>T	ENST00000548747.1	-	5	1132	c.470G>A	c.(469-471)gGc>gAc	p.G157D	PMEL_ENST00000536427.1_Splice_Site_p.G157D|PMEL_ENST00000539511.1_Splice_Site_p.G71D|PMEL_ENST00000360714.4_Splice_Site_p.G157D|PMEL_ENST00000552882.1_Splice_Site_p.G157D|PMEL_ENST00000548493.1_Splice_Site_p.G157D|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Splice_Site_p.G157D|PMEL_ENST00000550464.1_Splice_Site_p.G71D|PMEL_ENST00000548689.1_5'UTR			P40967	PMEL_HUMAN	premelanosome protein	157					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGTATTGGCCTGAAGTTTT	0.532																																					p.G157D		.											.	PMEL	92	0			c.G470A						.						48.0	47.0	48.0					12																	56351868		2203	4300	6503	SO:0001630	splice_region_variant	6490	exon5			TATTGGCCTGAAG	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.470-1G>A	12.37:g.56351868C>T		62.0	0.0		34.0	4.0	NM_001200054	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341944	0.61073	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000546543	T;T;T;T;T;T;T;T;T	0.30448	1.68;1.71;1.92;1.71;1.71;1.69;1.53;1.92;2.12	4.68	3.8	0.43715	.	0.121832	0.38111	N	0.001806	T	0.34337	0.0894	L	0.56769	1.78	0.80722	D	1	P;P;B	0.46912	0.886;0.608;0.414	P;B;B	0.44422	0.449;0.244;0.064	T	0.30707	-0.9969	10	0.66056	D	0.02	.	12.822	0.57698	0.0:0.918:0.0:0.082	.	71;157;157	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	D	157;157;71;157;157;157;157;71;108	ENSP00000402758:G157D;ENSP00000449690:G157D;ENSP00000450036:G71D;ENSP00000448828:G157D;ENSP00000447374:G157D;ENSP00000353940:G157D;ENSP00000438695:G157D;ENSP00000445005:G71D;ENSP00000446662:G108D	ENSP00000353940:G157D	G	-	2	0	PMEL	54638135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.164000	0.58190	1.581000	0.49865	0.655000	0.94253	GGC	.		0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928	Missense_Mutation
POLD1	5424	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	50921165	50921165	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:50921165C>T	ENST00000440232.2	+	27	3338	c.3285C>T	c.(3283-3285)ctC>ctT	p.L1095L	SPIB_ENST00000270632.7_5'Flank|SPIB_ENST00000439922.2_5'Flank|POLD1_ENST00000599857.1_Silent_p.L1095L|CTD-2545M3.6_ENST00000599632.1_Intron|SPIB_ENST00000595883.1_5'Flank|SPIB_ENST00000597855.1_5'Flank|POLD1_ENST00000595904.1_Silent_p.L1121L|SPIB_ENST00000596074.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1095					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAGCAGCTCCTGCGGCGCT	0.642								DNA polymerases (catalytic subunits)																													p.L1095L		.											.	POLD1	840	0			c.C3285T						.						31.0	32.0	32.0					19																	50921165		2199	4298	6497	SO:0001819	synonymous_variant	5424	exon27			GCAGCTCCTGCGG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.3285C>T	19.37:g.50921165C>T		255.0	0.0		174.0	52.0	NM_002691	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																			.		0.642	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
POLE3	54107	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	116172342	116172342	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:116172342T>C	ENST00000374171.4	-	3	315	c.145A>G	c.(145-147)Aca>Gca	p.T49A	C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000374169.3_Missense_Mutation_p.T49A|C9orf43_ENST00000288462.4_5'Flank|C9orf43_ENST00000490544.1_3'UTR|POLE3_ENST00000479871.1_5'UTR	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	49					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	CACCAGGATGTGGCGTACAGC	0.652																																					p.T49A		.											.	POLE3	227	0			c.A145G						.						18.0	19.0	18.0					9																	116172342		2190	4285	6475	SO:0001583	missense	54107	exon3			AGGATGTGGCGTA	AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.145A>G	9.37:g.116172342T>C	ENSP00000363286:p.Thr49Ala	67.0	0.0		43.0	4.0	NM_017443	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	Missense_Mutation	SNP	ENST00000374171.4	37	CCDS6795.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.008275	0.93346	.	.	ENSG00000148229	ENST00000374171;ENST00000374169	T;T	0.38077	1.16;1.16	4.88	4.88	0.63580	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	L	0.58810	1.83	0.80722	D	1	P	0.50617	0.937	P	0.56216	0.794	T	0.51949	-0.8640	10	0.87932	D	0	-5.2389	11.9833	0.53131	0.0:0.0:0.0:1.0	.	49	Q9NRF9	DPOE3_HUMAN	A	49	ENSP00000363286:T49A;ENSP00000363284:T49A	ENSP00000363284:T49A	T	-	1	0	POLE3	115212163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.718000	0.74713	2.050000	0.60909	0.460000	0.39030	ACA	.		0.652	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053730.1	NM_017443	
POP1	10940	ucsc.edu;bcgsc.ca	37	8	99170220	99170220	+	Silent	SNP	G	G	T	rs200939314		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:99170220G>T	ENST00000401707.2	+	16	2877	c.2796G>T	c.(2794-2796)gcG>gcT	p.A932A	POP1_ENST00000349693.3_Silent_p.A932A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	932					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATGGCCCGGCGGGGGAAGAGC	0.582																																					p.A932A		.											.	POP1	154	0			c.G2796T						.						86.0	98.0	94.0					8																	99170220		2203	4300	6503	SO:0001819	synonymous_variant	10940	exon16			CCCGGCGGGGGAA	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2796G>T	8.37:g.99170220G>T		29.0	0.0		32.0	4.0	NM_001145860	A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	CCDS6277.1																																																																																			G|0.999;A|0.000		0.582	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
POU6F2	11281	hgsc.bcm.edu;bcgsc.ca	37	7	39500146	39500146	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:39500146A>G	ENST00000403058.1	+	10	1557	c.1403A>G	c.(1402-1404)aAt>aGt	p.N468S	POU6F2_ENST00000559001.1_Splice_Site_p.N413S|POU6F2_ENST00000518318.2_Splice_Site_p.N468S	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	468					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCTCCACAGATCCTCAAACG	0.458																																					p.N468S		.											.	POU6F2	90	0			c.A1403G						.						54.0	48.0	50.0					7																	39500146		2203	4300	6503	SO:0001630	splice_region_variant	11281	exon10			CCACAGATCCTCA	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1403-1A>G	7.37:g.39500146A>G		234.0	0.0		161.0	8.0	NM_007252	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204127	0.38905	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85556	1.08;-2.0	5.48	5.48	0.80851	.	2.638820	0.01079	N	0.004942	D	0.87892	0.6292	N	0.12182	0.205	0.50313	D	0.999867	D	0.69078	0.997	D	0.70716	0.97	T	0.75133	-0.3425	9	.	.	.	.	15.5731	0.76354	1.0:0.0:0.0:0.0	.	468	P78424	PO6F2_HUMAN	S	468	ENSP00000384004:N468S;ENSP00000430514:N468S	.	N	+	2	0	POU6F2	39466671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.293000	0.96082	2.080000	0.62538	0.418000	0.28097	AAT	.		0.458	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Missense_Mutation
PPP4R4	57718	hgsc.bcm.edu;bcgsc.ca	37	14	94716580	94716580	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:94716580A>G	ENST00000304338.3	+	15	1837	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	561					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTAAACAAGAACAGAGACATG	0.333																																					p.E561E		.											.	PPP4R4	94	0			c.A1683G						.						127.0	113.0	118.0					14																	94716580		2203	4300	6503	SO:0001819	synonymous_variant	57718	exon15			ACAAGAACAGAGA	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1683A>G	14.37:g.94716580A>G		118.0	0.0		66.0	4.0	NM_058237	Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	CCDS9921.1																																																																																			.		0.333	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
PRSS8	5652	hgsc.bcm.edu;bcgsc.ca	37	16	31143805	31143805	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:31143805A>G	ENST00000317508.6	-	5	913	c.650T>C	c.(649-651)gTc>gCc	p.V217A	PRSS8_ENST00000568261.1_Missense_Mutation_p.V163A|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GTCCTCTTGGACAAAGTGCGG	0.597																																					p.V217A		.											.	.	.	0			c.T650C						.						100.0	105.0	104.0					16																	31143805		2101	4219	6320	SO:0001583	missense	5652	exon5			TCTTGGACAAAGT	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.650T>C	16.37:g.31143805A>G	ENSP00000319730:p.Val217Ala	121.0	0.0		92.0	7.0	NM_002773	B4DWP2|Q9UCA3	Missense_Mutation	SNP	ENST00000317508.6	37	CCDS45469.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169861	0.57584	.	.	ENSG00000052344	ENST00000317508;ENST00000419768	D	0.90900	-2.75	5.51	5.51	0.81932	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.207589	0.33753	N	0.004582	D	0.86239	0.5885	N	0.20445	0.575	0.20638	N	0.999877	P;P	0.46142	0.873;0.873	P;P	0.44946	0.465;0.465	T	0.81895	-0.0723	10	0.87932	D	0	.	14.6064	0.68481	1.0:0.0:0.0:0.0	.	163;217	B4DWP2;Q16651	.;PRSS8_HUMAN	A	217;135	ENSP00000319730:V217A	ENSP00000319730:V217A	V	-	2	0	PRSS8	31051306	1.000000	0.71417	0.159000	0.22649	0.791000	0.44710	3.278000	0.51662	2.098000	0.63641	0.459000	0.35465	GTC	.		0.597	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773	
PSME4	23198	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	54101524	54101524	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:54101524T>C	ENST00000404125.1	-	43	5107	c.5052A>G	c.(5050-5052)aaA>aaG	p.K1684K	PSME4_ENST00000421748.2_Silent_p.K828K|PSME4_ENST00000476586.1_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1684	Bromodomain-like (BRDL).				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCTGATATCTTTAACTGCAT	0.368																																					p.K1684K		.											.	PSME4	275	0			c.A5052G						.						99.0	102.0	101.0					2																	54101524		2203	4300	6503	SO:0001819	synonymous_variant	23198	exon43			GATATCTTTAACT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5052A>G	2.37:g.54101524T>C		251.0	1.0		180.0	46.0	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			.		0.368	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
PTPN13	5783	hgsc.bcm.edu;bcgsc.ca	37	4	87687669	87687669	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:87687669A>G	ENST00000411767.2	+	27	4391	c.4328A>G	c.(4327-4329)cAg>cGg	p.Q1443R	PTPN13_ENST00000427191.2_Splice_Site_p.Q1424R|PTPN13_ENST00000316707.6_Splice_Site_p.Q1252R|PTPN13_ENST00000511467.1_Splice_Site_p.Q1448R|PTPN13_ENST00000436978.1_Splice_Site_p.Q1448R			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1443	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATACAGGACAGGTAACAGAT	0.398																																					p.Q1448R		.											.	PTPN13	230	0			c.A4343G						.						110.0	102.0	104.0					4																	87687669		1916	4131	6047	SO:0001630	splice_region_variant	5783	exon27			CAGGACAGGTAAC		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4329+1A>G	4.37:g.87687669A>G		119.0	0.0		79.0	4.0	NM_080685	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	31	5.058754	0.93846	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.45361	D	0.000379	T	0.40040	0.1101	L	0.31420	0.93	0.80722	D	1	D;D;D;D	0.69078	0.984;0.984;0.996;0.997	D;D;D;D	0.91635	0.992;0.993;0.999;0.999	T	0.33497	-0.9866	10	0.87932	D	0	.	15.1489	0.72681	1.0:0.0:0.0:0.0	.	1252;1424;1443;1448	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	R	1424;1448;1252;1443;1448;1392	ENSP00000408368:Q1424R;ENSP00000394794:Q1448R;ENSP00000322675:Q1252R;ENSP00000407249:Q1443R;ENSP00000426626:Q1448R	ENSP00000322675:Q1252R	Q	+	2	0	PTPN13	87906693	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.478000	0.90428	1.978000	0.57642	0.377000	0.23210	CAG	.		0.398	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		Missense_Mutation
PTPRH	5794	hgsc.bcm.edu;bcgsc.ca	37	19	55708079	55708079	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:55708079G>T	ENST00000376350.3	-	10	2090	c.2068C>A	c.(2068-2070)Cag>Aag	p.Q690K	PTPRH_ENST00000263434.5_Missense_Mutation_p.Q512K|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	690	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TAGCCTCCCTGGGGGCAGGAC	0.602																																					p.Q690K		.											.	PTPRH	138	0			c.C2068A						.						70.0	65.0	67.0					19																	55708079		2203	4300	6503	SO:0001583	missense	5794	exon10			CTCCCTGGGGGCA		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.2068C>A	19.37:g.55708079G>T	ENSP00000365528:p.Gln690Lys	110.0	0.0		75.0	4.0	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671381	0.29693	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.05717	3.4;4.42	5.33	-10.7	0.00240	Fibronectin, type III (1);	4.765710	0.00702	N	0.000787	T	0.02970	0.0088	N	0.24115	0.695	0.09310	N	1	P;P;B	0.37781	0.473;0.608;0.448	B;B;B	0.39119	0.152;0.291;0.127	T	0.46205	-0.9208	10	0.05959	T	0.93	.	2.4582	0.04535	0.0902:0.2809:0.3478:0.2811	.	512;512;690	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	K	690;512	ENSP00000365528:Q690K;ENSP00000263434:Q512K	ENSP00000263434:Q512K	Q	-	1	0	PTPRH	60399891	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	-2.581000	0.00906	-1.739000	0.01347	-0.322000	0.08575	CAG	.		0.602	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
QSER1	79832	hgsc.bcm.edu;bcgsc.ca	37	11	32956867	32956867	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:32956867T>C	ENST00000399302.2	+	4	4011	c.3676T>C	c.(3676-3678)Tta>Cta	p.L1226L	QSER1_ENST00000527788.1_Silent_p.L987L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1226										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTGGAACATTTATCTTCATT	0.373																																					p.L1226L		.											.	QSER1	95	0			c.T3676C						.						142.0	142.0	142.0					11																	32956867		1829	4083	5912	SO:0001819	synonymous_variant	79832	exon4			GAACATTTATCTT	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3676T>C	11.37:g.32956867T>C		52.0	0.0		54.0	4.0	NM_001076786	Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	CCDS41631.1																																																																																			.		0.373	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
RAP1GDS1	5910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	99300176	99300176	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:99300176A>G	ENST00000408927.3	+	5	483	c.370A>G	c.(370-372)Aga>Gga	p.R124G	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R125G|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R125G	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	124					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGATGAGGGCAGAAGTGCAGT	0.343			T	NUP98	T-ALL																																p.R125G		.		Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	.	RAP1GDS1	660	0			c.A373G						.						91.0	86.0	88.0					4																	99300176		1862	4101	5963	SO:0001583	missense	5910	exon5			GAGGGCAGAAGTG		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.370A>G	4.37:g.99300176A>G	ENSP00000386153:p.Arg124Gly	129.0	0.0		65.0	15.0	NM_001100426	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994822	0.54041	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T;T	0.55930	0.49;0.63;0.63;0.49;0.63	5.95	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.145674	0.56097	D	0.000028	T	0.40767	0.1130	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.23377	0.041;0.084;0.001;0.041	B;B;B;B	0.28139	0.037;0.086;0.003;0.037	T	0.31420	-0.9944	10	0.87932	D	0	-15.4991	12.5273	0.56093	0.875:0.0:0.0:0.125	.	124;125;125;124	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	G	83;124;125;83;125	ENSP00000426096:R83G;ENSP00000386153:R124G;ENSP00000407157:R125G;ENSP00000421599:R83G;ENSP00000340454:R125G	ENSP00000340454:R125G	R	+	1	2	RAP1GDS1	99519199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	1.044000	0.40200	0.533000	0.62120	AGA	.		0.343	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
RBMS1	5937	hgsc.bcm.edu;bcgsc.ca	37	2	161133886	161133886	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:161133886A>G	ENST00000348849.3	-	12	1501	c.1071T>C	c.(1069-1071)ccT>ccC	p.P357P	RBMS1_ENST00000409289.2_Silent_p.P321P|RBMS1_ENST00000409972.1_Silent_p.P321P|RBMS1_ENST00000392753.3_Silent_p.P370P|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_Silent_p.P321P	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	357					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								CTGACGTTGCAGGCATGTACT	0.463																																					p.P357P		.											.	RBMS1	90	0			c.T1071C						.						124.0	93.0	104.0					2																	161133886		2203	4300	6503	SO:0001819	synonymous_variant	5937	exon12			CGTTGCAGGCATG	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.1071T>C	2.37:g.161133886A>G		146.0	0.0		95.0	6.0	NM_016836	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	ENST00000348849.3	37	CCDS2213.1																																																																																			.		0.463	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836	
RELN	5649	hgsc.bcm.edu;bcgsc.ca	37	7	103180823	103180823	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr7:103180823A>G	ENST00000428762.1	-	44	6910	c.6751T>C	c.(6751-6753)Tct>Cct	p.S2251P	RELN_ENST00000343529.5_Missense_Mutation_p.S2251P|RELN_ENST00000424685.2_Missense_Mutation_p.S2251P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2251					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGAGAGAATACTGTAGG	0.493																																					p.S2251P	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN	574	0			c.T6751C						.						111.0	108.0	109.0					7																	103180823		2203	4300	6503	SO:0001583	missense	5649	exon44			TGAGAGAATACTG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6751T>C	7.37:g.103180823A>G	ENSP00000392423:p.Ser2251Pro	83.0	0.0		47.0	4.0	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928203	0.73327	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.65916	-0.18;-0.18;-0.18	5.44	5.44	0.79542	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.82823	2.61	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.994	D	0.84048	0.0368	10	0.87932	D	0	.	15.7924	0.78376	1.0:0.0:0.0:0.0	.	2251;2251	P78509-2;P78509	.;RELN_HUMAN	P	2251	ENSP00000392423:S2251P;ENSP00000345694:S2251P;ENSP00000388446:S2251P	ENSP00000345694:S2251P	S	-	1	0	RELN	102968059	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	8.678000	0.91211	2.194000	0.70268	0.533000	0.62120	TCT	.		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RIMS1	22999	hgsc.bcm.edu;bcgsc.ca	37	6	72968750	72968750	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:72968750T>C	ENST00000521978.1	+	18	2989	c.2989T>C	c.(2989-2991)Tcc>Ccc	p.S997P	RIMS1_ENST00000348717.5_Missense_Mutation_p.S996P|RIMS1_ENST00000517960.1_Missense_Mutation_p.S996P|RIMS1_ENST00000518273.1_Missense_Mutation_p.S997P|RIMS1_ENST00000401910.3_Missense_Mutation_p.S470P|RIMS1_ENST00000264839.7_Missense_Mutation_p.S997P|RIMS1_ENST00000522291.1_Missense_Mutation_p.S996P|RIMS1_ENST00000523963.1_Missense_Mutation_p.S471P|RIMS1_ENST00000425662.2_Missense_Mutation_p.S390P|RIMS1_ENST00000520567.1_Missense_Mutation_p.S996P|RIMS1_ENST00000491071.2_Missense_Mutation_p.S997P|RIMS1_ENST00000517827.1_Missense_Mutation_p.S456P|RIMS1_ENST00000538414.1_5'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	997					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCATGATGCCTCCCGAAGTCC	0.358																																					p.S997P		.											.	RIMS1	144	0			c.T2989C						.						131.0	131.0	131.0					6																	72968750		1933	4125	6058	SO:0001583	missense	22999	exon18			GATGCCTCCCGAA	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2989T>C	6.37:g.72968750T>C	ENSP00000428417:p.Ser997Pro	138.0	0.0		80.0	4.0	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.958303|3.958303	0.73902|0.73902	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.19105	.|2.44;2.47;2.55;2.47;2.57;2.57;2.52;2.53;2.6;2.54;2.6;2.28;2.58;2.17	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.29355|0.29355	0.0731|0.0731	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|P;D;D;D;P;D;P;D;D;P;D;D	.|0.76494	.|0.932;0.967;0.999;0.979;0.612;0.962;0.793;0.996;0.987;0.937;0.999;0.997	.|B;D;D;P;B;P;B;P;D;P;D;P	.|0.79784	.|0.296;0.91;0.993;0.627;0.222;0.701;0.119;0.86;0.958;0.579;0.993;0.899	T|T	0.02698|0.02698	-1.1122|-1.1122	5|10	.|0.52906	.|T	.|0.07	-12.7919|-12.7919	15.7332|15.7332	0.77822|0.77822	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|456;471;997;456;470;996;249;997;996;250;997;997	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	P|P	570|997;997;997;996;997;996;997;996;997;996;996;997;470;471;390;390;456;222	.|ENSP00000430101:S997P;ENSP00000275037:S996P;ENSP00000264839:S997P;ENSP00000429959:S996P;ENSP00000430408:S997P;ENSP00000430502:S996P;ENSP00000430932:S996P;ENSP00000428417:S997P;ENSP00000385649:S470P;ENSP00000428328:S471P;ENSP00000411235:S390P;ENSP00000389503:S390P;ENSP00000428367:S456P;ENSP00000359448:S222P	.|ENSP00000264839:S997P	L|S	+|+	2|1	0|0	RIMS1|RIMS1	73025471|73025471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	5.764000|5.764000	0.68826|0.68826	2.182000|2.182000	0.69389|0.69389	0.460000|0.460000	0.39030|0.39030	CTC|TCC	.		0.358	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RNF146	81847	hgsc.bcm.edu;bcgsc.ca	37	6	127608496	127608496	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:127608496T>C	ENST00000368314.1	+	3	1162	c.738T>C	c.(736-738)tcT>tcC	p.S246S	RNF146_ENST00000309649.3_Silent_p.S245S|RNF146_ENST00000608991.1_Silent_p.S245S|RNF146_ENST00000610153.1_Silent_p.S246S|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	246					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TGGAAGACTCTTTTGCTCATT	0.483																																					p.S246S		.											.	RNF146	226	0			c.T738C						.						113.0	110.0	111.0					6																	127608496		2203	4300	6503	SO:0001819	synonymous_variant	81847	exon3			AGACTCTTTTGCT	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.738T>C	6.37:g.127608496T>C		142.0	0.0		91.0	4.0	NM_001242850	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	37	CCDS56449.1																																																																																			.		0.483	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963	
RNF31	55072	ucsc.edu;bcgsc.ca	37	14	24620086	24620086	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:24620086A>G	ENST00000324103.6	+	8	1797	c.1477A>G	c.(1477-1479)Agc>Ggc	p.S493G	RNF31_ENST00000559275.1_Missense_Mutation_p.S342G|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.S342G	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	493					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCAGCTAGTGAGCATGATCCG	0.567																																					p.S493G		.											.	RNF31	90	0			c.A1477G						.						25.0	28.0	27.0					14																	24620086		2090	4217	6307	SO:0001583	missense	55072	exon8			CTAGTGAGCATGA	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1477A>G	14.37:g.24620086A>G	ENSP00000315112:p.Ser493Gly	40.0	0.0		28.0	4.0	NM_017999	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	A	4.600	0.111537	0.08831	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.43688	0.94;0.94	5.8	-1.68	0.08212	.	1.414070	0.03678	N	0.245072	T	0.29945	0.0749	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14012	0.007;0.001;0.009	B;B;B	0.11329	0.005;0.002;0.006	T	0.10291	-1.0636	10	0.23891	T	0.37	1.6206	1.1816	0.01846	0.2338:0.3485:0.2611:0.1566	.	308;493;342	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	G	493;342	ENSP00000315112:S493G;ENSP00000372134:S342G	ENSP00000315112:S493G	S	+	1	0	RNF31	23689926	0.012000	0.17670	0.032000	0.17829	0.607000	0.37147	0.207000	0.17395	0.105000	0.17753	0.533000	0.62120	AGC	.		0.567	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
ROBO2	6092	hgsc.bcm.edu;bcgsc.ca	37	3	77612404	77612404	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:77612404A>G	ENST00000461745.1	+	11	2506	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	ROBO2_ENST00000487694.3_Missense_Mutation_p.N552D|ROBO2_ENST00000332191.8_Missense_Mutation_p.N536D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	536	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTTACTAAGAACAGTGTCAC	0.473																																					p.N536D		.											.	ROBO2	328	0			c.A1606G						.						98.0	95.0	96.0					3																	77612404		1907	4112	6019	SO:0001583	missense	6092	exon11			ACTAAGAACAGTG	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1606A>G	3.37:g.77612404A>G	ENSP00000417164:p.Asn536Asp	179.0	0.0		117.0	6.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	31	5.060528	0.93846	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57436	0.4;0.4;0.4	6.07	6.07	0.98685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000124	T	0.59335	0.2186	L	0.31207	0.915	0.36918	D	0.891261	P;P;P	0.44734	0.842;0.7;0.621	P;P;P	0.56823	0.785;0.807;0.745	T	0.63134	-0.6705	9	0.51188	T	0.08	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	552;536;536	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	D	552;552;556;536;536;257	ENSP00000417335:N552D;ENSP00000417164:N536D;ENSP00000327536:N536D	ENSP00000327536:N536D	N	+	1	0	ROBO2	77695094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	AAC	.		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
RRP12	23223	hgsc.bcm.edu;bcgsc.ca	37	10	99148093	99148093	+	Silent	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:99148093C>A	ENST00000370992.4	-	8	1044	c.933G>T	c.(931-933)ctG>ctT	p.L311L	RRP12_ENST00000414986.1_Silent_p.L250L|RRP12_ENST00000315563.6_Silent_p.L211L|RRP12_ENST00000536831.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	311						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCAGGTCCTTCAGCAGCGTCA	0.612																																					p.L311L		.											.	RRP12	92	0			c.G933T						.						70.0	67.0	68.0					10																	99148093		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon8			GTCCTTCAGCAGC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.933G>T	10.37:g.99148093C>A		93.0	0.0		71.0	4.0	NM_015179	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																			.		0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
RXRB	6257	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	33162736	33162736	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:33162736A>G	ENST00000374680.3	-	9	1651	c.1440T>C	c.(1438-1440)ccT>ccC	p.P480P	COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000374708.4_5'Flank|RXRB_ENST00000544186.1_Silent_p.P294P|COL11A2_ENST00000395197.1_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000357486.1_5'Flank|RXRB_ENST00000374685.4_Silent_p.P484P|COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000395194.1_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	480	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTGCTGCTCAGGGTACTTCT	0.607																																					p.P484P		.											.	RXRB	189	0			c.T1452C						.						70.0	70.0	70.0					6																	33162736		1509	2709	4218	SO:0001819	synonymous_variant	6257	exon9			CTGCTCAGGGTAC	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1440T>C	6.37:g.33162736A>G		294.0	0.0		171.0	8.0	NM_001270401	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	CCDS4768.1																																																																																			.		0.607	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	
SARS	6301	ucsc.edu;bcgsc.ca	37	1	109778018	109778018	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:109778018A>G	ENST00000234677.2	+	7	1009	c.934A>G	c.(934-936)Acc>Gcc	p.T312A	SARS_ENST00000369923.4_Missense_Mutation_p.T312A	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	312					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGGCCGTGACACCCGTGGCAT	0.572																																					p.T312A		.											.	SARS	90	0			c.A934G						.						64.0	55.0	58.0					1																	109778018		2203	4300	6503	SO:0001583	missense	6301	exon7			CGTGACACCCGTG	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.934A>G	1.37:g.109778018A>G	ENSP00000234677:p.Thr312Ala	35.0	0.0		39.0	5.0	NM_006513	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	CCDS795.1	.	.	.	.	.	.	.	.	.	.	a	19.80	3.895016	0.72639	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.68025	-0.3;-0.3	5.56	5.56	0.83823	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.89030	3	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;1.0;0.999	D;D;D;D	0.97110	0.997;0.913;1.0;0.997	T	0.81176	-0.1052	10	0.33141	T	0.24	-23.6458	15.3886	0.74723	1.0:0.0:0.0:0.0	.	312;312;312;312	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	A	312	ENSP00000234677:T312A;ENSP00000358939:T312A	ENSP00000234677:T312A	T	+	1	0	SARS	109579541	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.059000	0.93902	2.119000	0.64992	0.533000	0.62120	ACC	.		0.572	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	237666628	237666628	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:237666628A>T	ENST00000366574.2	+	22	2753	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N	RYR2_ENST00000360064.6_Missense_Mutation_p.K810N|RYR2_ENST00000542537.1_Missense_Mutation_p.K796N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	812					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAATTCAAATTTCTTCCTC	0.408																																					p.K812N		.											.	RYR2	158	0			c.A2436T						.						74.0	73.0	73.0					1																	237666628		1905	4121	6026	SO:0001583	missense	6262	exon22			ATTCAAATTTCTT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2436A>T	1.37:g.237666628A>T	ENSP00000355533:p.Lys812Asn	175.0	0.0		204.0	31.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033768	0.75504	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61510	0.1;0.1;0.1	5.73	-0.908	0.10517	Concanavalin A-like lectin/glucanase (1);	0.000000	0.64402	D	0.000004	T	0.67748	0.2926	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.69154	-0.5220	10	0.56958	D	0.05	.	11.5221	0.50558	0.5216:0.0:0.4784:0.0	.	812	Q92736	RYR2_HUMAN	N	812;810;796	ENSP00000355533:K812N;ENSP00000353174:K810N;ENSP00000443798:K796N	ENSP00000353174:K810N	K	+	3	2	RYR2	235733251	0.977000	0.34250	0.997000	0.53966	0.987000	0.75469	0.153000	0.16323	-0.097000	0.12307	0.533000	0.62120	AAA	.		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
SCD5	79966	hgsc.bcm.edu;bcgsc.ca	37	4	83602015	83602015	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:83602015T>C	ENST00000319540.4	-	3	733	c.414A>G	c.(412-414)tcA>tcG	p.S138S	SCD5_ENST00000273908.4_Silent_p.S138S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	138					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATCCGTCTCTGAGTACTTGT	0.562																																					p.S138S		.											.	SCD5	91	0			c.A414G						.						92.0	99.0	97.0					4																	83602015		2203	4300	6503	SO:0001819	synonymous_variant	79966	exon3			CGTCTCTGAGTAC	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.414A>G	4.37:g.83602015T>C		133.0	0.0		86.0	4.0	NM_024906	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	ENST00000319540.4	37	CCDS34024.1																																																																																			.		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906	
SCN2B	6327	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118037686	118037686	+	Silent	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:118037686C>T	ENST00000278947.5	-	4	805	c.564G>A	c.(562-564)gaG>gaA	p.E188E		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	188					cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGCTTCTGCTCTTTTTTTC	0.602																																					p.E188E		.											.	SCN2B	90	0			c.G564A						.						246.0	188.0	207.0					11																	118037686		2200	4296	6496	SO:0001819	synonymous_variant	6327	exon4			CTTCTGCTCTTTT	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.564G>A	11.37:g.118037686C>T		329.0	2.0		222.0	65.0	NM_004588	O75302|Q9UNN3	Silent	SNP	ENST00000278947.5	37	CCDS8390.1																																																																																			.		0.602	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588	
SCRN3	79634	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	175269041	175269041	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:175269041A>C	ENST00000272732.6	+	5	834	c.752A>C	c.(751-753)aAa>aCa	p.K251T	SCRN3_ENST00000409673.3_Missense_Mutation_p.K244T	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	251							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AATAAGCACAAAGGTAATTTT	0.333																																					p.K251T		.											.	SCRN3	91	0			c.A752C						.						51.0	48.0	49.0					2																	175269041		2203	4300	6503	SO:0001583	missense	79634	exon5			AGCACAAAGGTAA	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.752A>C	2.37:g.175269041A>C	ENSP00000272732:p.Lys251Thr	107.0	0.0		76.0	21.0	NM_024583	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123118	0.37436	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.20738	2.05;2.05	5.82	3.33	0.38152	.	0.446498	0.27640	N	0.018464	T	0.20941	0.0504	L	0.40543	1.245	0.26434	N	0.975891	P;P	0.39920	0.695;0.491	P;B	0.46419	0.516;0.258	T	0.10086	-1.0645	10	0.17832	T	0.49	-16.118	9.0186	0.36186	0.8083:0.126:0.0658:0.0	.	244;251	B4DI11;Q0VDG4	.;SCRN3_HUMAN	T	244;251	ENSP00000387142:K244T;ENSP00000272732:K251T	ENSP00000272732:K251T	K	+	2	0	SCRN3	174977287	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.286000	0.58995	0.409000	0.25649	-0.316000	0.08728	AAA	.		0.333	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583	
SDHA	6389	broad.mit.edu;bcgsc.ca	37	5	251503	251503	+	Missense_Mutation	SNP	A	A	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:251503A>T	ENST00000264932.6	+	13	1829	c.1714A>T	c.(1714-1716)Atg>Ttg	p.M572L	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.M524L|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	572					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCAGAACCTGATGCTGTGTGC	0.617									Familial Paragangliomas																												p.M572L		.											.	SDHA	226	0			c.A1714T						.						31.0	39.0	36.0					5																	251503		2202	4298	6500	SO:0001583	missense	6389	exon13	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	AACCTGATGCTGT	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1714A>T	5.37:g.251503A>T	ENSP00000264932:p.Met572Leu	446.0	1.0		355.0	73.0	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	5.063	0.197292	0.09599	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	T;T;T	0.75477	-0.94;-0.94;-0.94	3.69	3.69	0.42338	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.48314	0.1493	N	0.05330	-0.07	0.53688	D	0.999973	B;B;B;B	0.10296	0.0;0.001;0.003;0.0	B;B;B;B	0.16289	0.006;0.015;0.012;0.006	T	0.45381	-0.9265	10	0.02654	T	1	.	10.6033	0.45379	1.0:0.0:0.0:0.0	.	524;572;166;572	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	L	572;427;524;18	ENSP00000264932:M572L;ENSP00000427703:M524L;ENSP00000421911:M18L	ENSP00000264932:M572L	M	+	1	0	SDHA	304503	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.545000	0.53648	1.464000	0.47987	0.254000	0.18369	ATG	.		0.617	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	
SEPT9	10801	hgsc.bcm.edu;bcgsc.ca	37	17	75471676	75471676	+	Intron	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:75471676T>C	ENST00000427177.1	+	4	847				SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000427180.1_Missense_Mutation_p.S26P|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000591198.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000585930.1_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGGTCTGGATTCAGGGGAGCC	0.642																																					p.S26P		.											.	SEPT9	659	0			c.T76C						.						22.0	24.0	24.0					17																	75471676		1567	3582	5149	SO:0001627	intron_variant	10801	exon1			CTGGATTCAGGGG	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6550T>C	17.37:g.75471676T>C		153.0	0.0		81.0	4.0	NM_001113495	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278473	0.23307	.	.	ENSG00000184640	ENST00000427180	T	0.52983	0.64	1.48	1.48	0.22813	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.19775	N	0.999958	P	0.44309	0.832	B	0.29440	0.102	T	0.18209	-1.0344	8	0.87932	D	0	.	6.6406	0.22906	0.0:0.0:0.0:1.0	.	26	Q9UHD8-8	.	P	26	ENSP00000415624:S26P	ENSP00000415624:S26P	S	+	1	0	SEPT9	72983271	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.192000	0.09587	0.939000	0.37446	0.368000	0.22195	TCA	.		0.642	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640	
SERPINA10	51156	hgsc.bcm.edu;bcgsc.ca	37	14	94750485	94750485	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:94750485T>C	ENST00000393096.1	-	5	1617	c.1152A>G	c.(1150-1152)caA>caG	p.Q384Q	SERPINA10_ENST00000554723.1_Silent_p.Q424Q|SERPINA10_ENST00000554173.1_Silent_p.Q384Q|SERPINA10_ENST00000261994.4_Silent_p.Q384Q	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	384			Q -> P. {ECO:0000269|Ref.4}.|Q -> R (in dbSNP:rs2232710). {ECO:0000269|PubMed:12975309}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCACTGTTCTTTGTAAAACCT	0.423																																					p.Q384Q		.											.	SERPINA10	228	0			c.A1152G						.						74.0	66.0	69.0					14																	94750485		2203	4300	6503	SO:0001819	synonymous_variant	51156	exon5			TGTTCTTTGTAAA	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1152A>G	14.37:g.94750485T>C		91.0	0.0		62.0	4.0	NM_001100607	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	CCDS9923.1																																																																																			.		0.423	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
SERPINA1	5265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	94845816	94845816	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:94845816G>A	ENST00000448921.1	-	6	1622	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	SERPINA1_ENST00000393088.4_Silent_p.P350P|SERPINA1_ENST00000355814.4_Silent_p.P350P|SERPINA1_ENST00000449399.3_Silent_p.P350P|SERPINA1_ENST00000404814.4_Silent_p.P350P|SERPINA1_ENST00000440909.1_Silent_p.P350P|SERPINA1_ENST00000393087.4_Silent_p.P350P|SERPINA1_ENST00000402629.1_Silent_p.P350P|SERPINA1_ENST00000437397.1_Silent_p.P350P	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	350					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)		AGAGCTTCAGGGGTGCCTCCT	0.567																																					p.P350P		.											.	SERPINA1	226	0			c.C1050T						.						113.0	106.0	109.0					14																	94845816		2203	4300	6503	SO:0001819	synonymous_variant	5265	exon6			CTTCAGGGGTGCC	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.1050C>T	14.37:g.94845816G>A		79.0	0.0		53.0	6.0	NM_001127701	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	CCDS9925.1																																																																																			.		0.567	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
SETD1B	23067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	122247600	122247600	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:122247600C>A	ENST00000604567.1	+	6	817	c.749C>A	c.(748-750)aCa>aAa	p.T250K	SETD1B_ENST00000542440.1_Missense_Mutation_p.T250K|SETD1B_ENST00000267197.5_Missense_Mutation_p.T250K			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	250					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGCGGTGGGACACCCTTCTCC	0.632																																					p.T250K		.											.	SETD1B	86	0			c.C749A						.						70.0	75.0	73.0					12																	122247600		692	1591	2283	SO:0001583	missense	23067	exon5			GTGGGACACCCTT	AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.749C>A	12.37:g.122247600C>A	ENSP00000474253:p.Thr250Lys	71.0	0.0		57.0	7.0	NM_015048	F6MFW1	Missense_Mutation	SNP	ENST00000604567.1	37		.	.	.	.	.	.	.	.	.	.	C	13.04	2.119409	0.37436	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.98178	-4.77;-4.77	5.29	5.29	0.74685	.	.	.	.	.	D	0.98807	0.9598	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99896	1.1147	9	0.87932	D	0	.	18.958	0.92668	0.0:1.0:0.0:0.0	.	250	Q9UPS6	SET1B_HUMAN	K	250	ENSP00000442924:T250K;ENSP00000267197:T250K	ENSP00000267197:T250K	T	+	2	0	SETD1B	120731983	1.000000	0.71417	0.997000	0.53966	0.121000	0.20230	7.481000	0.81124	2.478000	0.83669	0.561000	0.74099	ACA	.		0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
SFTA2	389376	hgsc.bcm.edu;bcgsc.ca	37	6	30899268	30899268	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:30899268T>C	ENST00000359086.3	-	3	312	c.234A>G	c.(232-234)acA>acG	p.T78T	Y_RNA_ENST00000516952.1_RNA	NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	78						extracellular region (GO:0005576)				lung(2)	2						ATGGCTGTCATGTGTTGCAGA	0.602																																					p.T78T		.											.	SFTA2	90	0			c.A234G						.						92.0	68.0	76.0					6																	30899268		1508	2708	4216	SO:0001819	synonymous_variant	389376	exon3			CTGTCATGTGTTG	AY102070	CCDS4691.1	6p21.3	2008-08-26	2008-08-26	2008-08-26	ENSG00000196260	ENSG00000196260			18386	protein-coding gene	gene with protein product			"""surfactant associated protein G"""	SFTPG			Standard	NM_205854		Approved		uc003nsf.3	Q6UW10	OTTHUMG00000031183	ENST00000359086.3:c.234A>G	6.37:g.30899268T>C		137.0	0.0		79.0	4.0	NM_205854	A2ABK7|A2ACH1|B7ZCJ7	Silent	SNP	ENST00000359086.3	37	CCDS4691.1																																																																																			.		0.602	SFTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076360.2	NM_205854	
SHPRH	257218	broad.mit.edu;bcgsc.ca	37	6	146264289	146264289	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:146264289A>G	ENST00000367505.2	-	9	2492	c.2228T>C	c.(2227-2229)cTt>cCt	p.L743P	SHPRH_ENST00000367503.3_Missense_Mutation_p.L743P|SHPRH_ENST00000438092.2_Missense_Mutation_p.L743P|SHPRH_ENST00000275233.7_Missense_Mutation_p.L743P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	743	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAAGACTCGAAGAGATGACGA	0.428																																					p.L743P		.											.	SHPRH	92	0			c.T2228C						.						77.0	76.0	76.0					6																	146264289		1956	4140	6096	SO:0001583	missense	257218	exon9			ACTCGAAGAGATG	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2228T>C	6.37:g.146264289A>G	ENSP00000356475:p.Leu743Pro	161.0	1.0		129.0	7.0	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513637	0.85389	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.51	5.51	0.81932	DEAD-like helicase (1);SNF2-related (1);	0.089953	0.45606	D	0.000358	D	0.96883	0.8982	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.958;1.0;1.0;1.0	D	0.97665	1.0163	10	0.87932	D	0	-14.4967	15.909	0.79456	1.0:0.0:0.0:0.0	.	632;743;743;632	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	P	743;743;743;743;632	ENSP00000356475:L743P;ENSP00000356473:L743P;ENSP00000412797:L743P;ENSP00000275233:L743P	ENSP00000275233:L743P	L	-	2	0	SHPRH	146305982	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	9.255000	0.95524	2.220000	0.72140	0.477000	0.44152	CTT	.		0.428	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SIGLEC15	284266	hgsc.bcm.edu;bcgsc.ca	37	18	43417043	43417043	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:43417043A>G	ENST00000389474.3	+	2	319	c.102A>G	c.(100-102)acA>acG	p.T34T	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000587418.1_5'Flank|SIGLEC15_ENST00000546268.1_5'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	34					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						tgctcaacacagaggtgcaca	0.438																																					p.T34T		.											.	SIGLEC15	90	0			c.A102G						.						98.0	98.0	98.0					18																	43417043		2203	4300	6503	SO:0001819	synonymous_variant	284266	exon2			CAACACAGAGGTG	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.102A>G	18.37:g.43417043A>G		77.0	0.0		71.0	4.0	NM_213602	A8K2Y5|B4DVQ9	Silent	SNP	ENST00000389474.3	37	CCDS32819.1																																																																																			.		0.438	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602	
SLC11A1	6556	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	219251389	219251389	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:219251389A>G	ENST00000233202.6	+	5	765	c.425A>G	c.(424-426)gAg>gGg	p.E142G	SLC11A1_ENST00000539932.1_Missense_Mutation_p.E24G|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	142					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGACCATCGAGCTAGCCATT	0.567																																					p.E142G		.											.	SLC11A1	93	0			c.A425G						.						89.0	73.0	78.0					2																	219251389		2203	4300	6503	SO:0001583	missense	6556	exon5			CCATCGAGCTAGC	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.425A>G	2.37:g.219251389A>G	ENSP00000233202:p.Glu142Gly	43.0	0.0		24.0	4.0	NM_000578	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.418765	0.62622	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.73258	-0.73;-0.73	5.24	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	H	0.97874	4.095	0.58432	D	0.99999	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.942;1.0;1.0	D	0.91059	0.4884	10	0.87932	D	0	-18.546	11.0891	0.48104	0.9279:0.0:0.0721:0.0	.	142;24;142	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	G	142;24	ENSP00000233202:E142G;ENSP00000443435:E24G	ENSP00000233202:E142G	E	+	2	0	SLC11A1	218959633	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	6.846000	0.75399	1.128000	0.42052	0.533000	0.62120	GAG	.		0.567	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578	
SLC24A5	283652	hgsc.bcm.edu;bcgsc.ca	37	15	48413333	48413333	+	Missense_Mutation	SNP	C	C	A	rs201294244	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:48413333C>A	ENST00000341459.3	+	1	165	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	SLC24A5_ENST00000449382.2_Missense_Mutation_p.S31Y|SLC24A5_ENST00000482911.2_Missense_Mutation_p.S31Y	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	31					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TCAGGGACCTCCCTGCCCCAA	0.587																																					p.S31Y		.											.	SLC24A5	90	0			c.C92A						.						59.0	51.0	54.0					15																	48413333		2198	4297	6495	SO:0001583	missense	283652	exon1			GGACCTCCCTGCC	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.92C>A	15.37:g.48413333C>A	ENSP00000341550:p.Ser31Tyr	60.0	0.0		55.0	4.0	NM_205850	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205027	0.38905	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75477	-0.93;-0.94	5.38	4.46	0.54185	.	0.255835	0.28393	N	0.015509	T	0.61726	0.2370	N	0.14661	0.345	0.09310	N	1	P;B;P	0.46277	0.454;0.278;0.875	B;B;P	0.44647	0.276;0.088;0.456	T	0.58429	-0.7638	10	0.62326	D	0.03	.	11.5957	0.50972	0.0:0.9164:0.0:0.0836	.	31;31;31	A5X8Z9;Q71RS6;A5X8Z8	.;NCKX5_HUMAN;.	Y	31	ENSP00000341550:S31Y;ENSP00000389966:S31Y	ENSP00000341550:S31Y	S	+	2	0	SLC24A5	46200625	0.036000	0.19791	0.895000	0.35142	0.097000	0.18754	2.171000	0.42453	1.488000	0.48433	0.655000	0.94253	TCC	C|0.999;T|0.001		0.587	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	
SLC25A17	10478	hgsc.bcm.edu;bcgsc.ca	37	22	41173121	41173121	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr22:41173121A>G	ENST00000435456.2	-	7	749	c.616T>C	c.(616-618)Ttc>Ctc	p.F206L	SLC25A17_ENST00000402844.3_Missense_Mutation_p.F124L|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.F133L|SLC25A17_ENST00000544408.1_Missense_Mutation_p.F169L	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	206					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CCAATGATGAACACATCCAAG	0.448																																					p.F206L		.											.	SLC25A17	90	0			c.T616C						.						94.0	80.0	85.0					22																	41173121		2203	4300	6503	SO:0001583	missense	10478	exon7			TGATGAACACATC	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.616T>C	22.37:g.41173121A>G	ENSP00000390722:p.Phe206Leu	103.0	0.0		63.0	5.0	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	A	35	5.509637	0.96386	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81531	0.4842	L	0.50847	1.595	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.80764	0.944;0.994;0.991	T	0.77067	-0.2725	10	0.16420	T	0.52	-14.2959	16.1864	0.81955	1.0:0.0:0.0:0.0	.	133;169;206	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	L	206;124;169;133	ENSP00000390722:F206L;ENSP00000385303:F124L;ENSP00000438355:F169L;ENSP00000446471:F133L	ENSP00000385303:F124L	F	-	1	0	SLC25A17	39503067	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.988000	0.93501	2.281000	0.76405	0.528000	0.53228	TTC	.		0.448	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	
SLC26A1	10861	hgsc.bcm.edu;bcgsc.ca	37	4	983816	983816	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:983816A>G	ENST00000361661.2	-	4	1288	c.911T>C	c.(910-912)cTc>cCc	p.L304P	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.L304P|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	304					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGCGACACGAGTGTGGCCAC	0.677																																					p.L304P		.											.	SLC26A1	91	0			c.T911C						.						31.0	24.0	26.0					4																	983816		2176	4290	6466	SO:0001583	missense	10861	exon3			GACACGAGTGTGG	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.911T>C	4.37:g.983816A>G	ENSP00000354721:p.Leu304Pro	78.0	0.0		72.0	5.0	NM_022042	A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835265	0.32421	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.94232	-3.38;-3.38	4.97	3.78	0.43462	Sulphate transporter (1);	0.452720	0.24052	N	0.041997	D	0.96586	0.8886	M	0.89785	3.06	0.58432	D	0.999993	D	0.89917	1.0	D	0.78314	0.991	D	0.95522	0.8595	10	0.59425	D	0.04	.	8.8046	0.34929	0.9091:0.0:0.0909:0.0	.	304	Q9H2B4	S26A1_HUMAN	P	304	ENSP00000354721:L304P;ENSP00000381528:L304P	ENSP00000354721:L304P	L	-	2	0	SLC26A1	973816	0.994000	0.37717	0.001000	0.08648	0.096000	0.18686	7.363000	0.79516	0.746000	0.32786	-0.379000	0.06801	CTC	.		0.677	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425	
SLC2A2	6514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	170732421	170732421	+	Missense_Mutation	SNP	T	T	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:170732421T>G	ENST00000314251.3	-	3	287	c.208A>C	c.(208-210)Atc>Ctc	p.I70L	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	70					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GAGTATGAGATTGTGGGCAGT	0.448																																					p.I70L		.											.	SLC2A2	515	0			c.A208C						.						221.0	213.0	216.0					3																	170732421		2203	4300	6503	SO:0001583	missense	6514	exon3			ATGAGATTGTGGG	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.208A>C	3.37:g.170732421T>G	ENSP00000323568:p.Ile70Leu	698.0	0.0		482.0	136.0	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	T	3.919	-0.018568	0.07681	.	.	ENSG00000163581	ENST00000314251	D	0.82433	-1.61	5.75	-11.5	0.00074	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	16.683300	0.00166	N	0.000001	T	0.58163	0.2103	N	0.05124	-0.11	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.51252	-0.8729	10	0.10111	T	0.7	.	7.8498	0.29448	0.1769:0.5803:0.0838:0.1591	.	70	P11168	GTR2_HUMAN	L	70	ENSP00000323568:I70L	ENSP00000323568:I70L	I	-	1	0	SLC2A2	172215115	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.293000	0.00134	-2.782000	0.00360	-0.438000	0.05819	ATC	.		0.448	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
SLC5A8	160728	hgsc.bcm.edu;bcgsc.ca	37	12	101581168	101581168	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:101581168T>C	ENST00000536262.2	-	7	1517	c.959A>G	c.(958-960)gAc>gGc	p.D320G		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGAACCTGGTCTGGTGCAGA	0.428																																					p.D320G	GBM(60;420 1056 13605 22380 47675)	.											.	SLC5A8	90	0			c.A959G						.						109.0	100.0	103.0					12																	101581168		2203	4300	6503	SO:0001583	missense	160728	exon7			ACCTGGTCTGGTG	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.959A>G	12.37:g.101581168T>C	ENSP00000445340:p.Asp320Gly	109.0	0.0		97.0	4.0	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685914	0.88639	.	.	ENSG00000256870	ENST00000536262	D	0.89415	-2.51	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98043	1.0383	10	0.87932	D	0	.	15.3279	0.74182	0.0:0.0:0.0:1.0	.	320	Q8N695	SC5A8_HUMAN	G	320	ENSP00000445340:D320G	ENSP00000445340:D320G	D	-	2	0	SLC5A8	100105299	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.040000	0.89188	2.019000	0.59389	0.377000	0.23210	GAC	.		0.428	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
SMCHD1	23347	hgsc.bcm.edu;bcgsc.ca	37	18	2726476	2726476	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:2726476T>C	ENST00000320876.6	+	22	3065	c.2727T>C	c.(2725-2727)ccT>ccC	p.P909P	SMCHD1_ENST00000261598.8_Silent_p.P909P|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	909					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTACTCTGCCTGGCTTAAAAG	0.259																																					p.P909P		.											.	SMCHD1	46	0			c.T2727C						.						23.0	23.0	23.0					18																	2726476		1746	3924	5670	SO:0001819	synonymous_variant	23347	exon22			TCTGCCTGGCTTA	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2727T>C	18.37:g.2726476T>C		118.0	0.0		67.0	4.0	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	CCDS45822.1																																																																																			.		0.259	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SMYD5	10322	hgsc.bcm.edu;bcgsc.ca	37	2	73446019	73446019	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:73446019C>T	ENST00000389501.4	+	2	172	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	43	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ACAGCTCATCCGGAAGGGGGA	0.547																																					p.R43W		.											.	SMYD5	226	0			c.C127T						.						92.0	92.0	92.0					2																	73446019		1967	4151	6118	SO:0001583	missense	10322	exon2			CTCATCCGGAAGG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.127C>T	2.37:g.73446019C>T	ENSP00000374152:p.Arg43Trp	224.0	0.0		124.0	5.0	NM_006062	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079060	0.76528	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	D;T	0.81908	-1.55;0.9	5.47	3.49	0.39957	SET domain (2);	0.377311	0.28203	N	0.016215	D	0.86142	0.5862	L	0.54323	1.7	0.39477	D	0.967826	D	0.69078	0.997	P	0.57846	0.828	D	0.88311	0.2956	10	0.87932	D	0	-5.499	13.518	0.61551	0.0:0.7017:0.2983:0.0	.	43	Q6GMV2	SMYD5_HUMAN	W	43;16	ENSP00000374152:R43W;ENSP00000412587:R16W	ENSP00000258100:R43W	R	+	1	2	SMYD5	73299527	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.919000	0.40015	1.360000	0.45960	0.650000	0.86243	CGG	.		0.547	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
SNF8	11267	hgsc.bcm.edu;bcgsc.ca	37	17	47022064	47022064	+	Silent	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:47022064G>T	ENST00000502492.1	-	1	415	c.33C>A	c.(31-33)atC>atA	p.I11I	SNF8_ENST00000290330.3_Silent_p.I11I			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	11					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						TCTTCTTGGCGATGGCGCCAG	0.711																																					p.I11I		.											.	SNF8	90	0			c.C33A						.						101.0	109.0	107.0					17																	47022064		2203	4300	6503	SO:0001819	synonymous_variant	11267	exon1			CTTGGCGATGGCG	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.33C>A	17.37:g.47022064G>T		58.0	0.0		41.0	4.0	NM_007241	Q8IXY3|Q9UN50	Silent	SNP	ENST00000502492.1	37	CCDS11541.1																																																																																			.		0.711	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241	
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	106970970	106970970	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:106970970G>T	ENST00000369701.3	+	17	2564	c.2337G>T	c.(2335-2337)aaG>aaT	p.K779N	SORCS3_ENST00000369699.4_Missense_Mutation_p.K65N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	779					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCCATCAAAGGACTGCAGCC	0.463																																					p.K779N	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3	99	0			c.G2337T						.						111.0	91.0	97.0					10																	106970970		2203	4300	6503	SO:0001583	missense	22986	exon17			ATCAAAGGACTGC	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2337G>T	10.37:g.106970970G>T	ENSP00000358715:p.Lys779Asn	205.0	0.0		145.0	32.0	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161735	0.38119	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.32272	2.43;1.46;1.47	5.93	4.09	0.47781	VPS10 (1);	0.055638	0.64402	D	0.000001	T	0.33147	0.0853	L	0.58810	1.83	0.36202	D	0.85081	P	0.47409	0.895	P	0.45071	0.468	T	0.38845	-0.9642	9	.	.	.	.	10.6971	0.45905	0.2032:0.0:0.7968:0.0	.	779	Q9UPU3	SORC3_HUMAN	N	779;140;65	ENSP00000358715:K779N;ENSP00000376876:K140N;ENSP00000358713:K65N	.	K	+	3	2	SORCS3	106960960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.307000	0.33516	0.858000	0.35431	-0.150000	0.13652	AAG	.		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SPEN	23013	hgsc.bcm.edu;bcgsc.ca	37	1	16257506	16257506	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:16257506A>G	ENST00000375759.3	+	11	4975	c.4771A>G	c.(4771-4773)Aca>Gca	p.T1591A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1591					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TATGGAGCTCACACGGATGCA	0.443																																					p.T1591A		.											.	SPEN	298	0			c.A4771G						.						55.0	58.0	57.0					1																	16257506		2203	4300	6503	SO:0001583	missense	23013	exon11			GAGCTCACACGGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4771A>G	1.37:g.16257506A>G	ENSP00000364912:p.Thr1591Ala	88.0	0.0		68.0	4.0	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412046	0.62511	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	4.76	4.76	0.60689	.	.	.	.	.	T	0.16769	0.0403	L	0.36672	1.1	0.46564	D	0.999102	D	0.61080	0.989	P	0.55391	0.775	T	0.05419	-1.0886	9	0.22109	T	0.4	-17.7366	14.4232	0.67198	1.0:0.0:0.0:0.0	.	1591	Q96T58	MINT_HUMAN	A	1591	ENSP00000364912:T1591A	ENSP00000364912:T1591A	T	+	1	0	SPEN	16130093	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.526000	0.81920	1.979000	0.57680	0.383000	0.25322	ACA	.		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPG11	80208	hgsc.bcm.edu;bcgsc.ca	37	15	44859730	44859730	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:44859730C>T	ENST00000261866.7	-	36	6662	c.6646G>A	c.(6646-6648)Gaa>Aaa	p.E2216K	SPG11_ENST00000427534.2_Missense_Mutation_p.E2216K|SPG11_ENST00000535302.2_Missense_Mutation_p.E2103K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2216					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTGTGCTTTTCACTGTCTCCA	0.517																																					p.E2216K		.											.	SPG11	95	0			c.G6646A						.						90.0	79.0	82.0					15																	44859730		2198	4298	6496	SO:0001583	missense	80208	exon36			GCTTTTCACTGTC		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6646G>A	15.37:g.44859730C>T	ENSP00000261866:p.Glu2216Lys	142.0	0.0		73.0	4.0	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	37	6.269070	0.97431	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;T;D	0.82984	-1.67;-1.26;-1.52	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.91082	0.4900	10	0.72032	D	0.01	.	20.819	0.99723	0.0:1.0:0.0:0.0	.	2216;2103;2216;2216	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	K	2216;2103;2216	ENSP00000261866:E2216K;ENSP00000445278:E2103K;ENSP00000396110:E2216K	ENSP00000261866:E2216K	E	-	1	0	SPG11	42647022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.773000	0.85462	2.927000	0.99377	0.637000	0.83480	GAA	.		0.517	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SPG11	80208	hgsc.bcm.edu;bcgsc.ca	37	15	44903081	44903081	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:44903081A>G	ENST00000261866.7	-	18	3264	c.3248T>C	c.(3247-3249)cTg>cCg	p.L1083P	SPG11_ENST00000427534.2_Missense_Mutation_p.L1083P|SPG11_ENST00000558319.1_Missense_Mutation_p.L1083P|SPG11_ENST00000535302.2_Missense_Mutation_p.L1083P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1083					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCAAGGGCCAGGAGGGTATG	0.433																																					p.L1083P		.											.	SPG11	95	0			c.T3248C						.						126.0	109.0	114.0					15																	44903081		2198	4298	6496	SO:0001583	missense	80208	exon18			AGGGCCAGGAGGG		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3248T>C	15.37:g.44903081A>G	ENSP00000261866:p.Leu1083Pro	116.0	0.0		95.0	5.0	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119956	0.77323	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.35789	1.29;1.29;1.29	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000009	T	0.60301	0.2258	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.64516	-0.6389	10	0.72032	D	0.01	.	13.9677	0.64218	1.0:0.0:0.0:0.0	.	1083;1083;1083	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	P	1083	ENSP00000261866:L1083P;ENSP00000445278:L1083P;ENSP00000396110:L1083P	ENSP00000261866:L1083P	L	-	2	0	SPG11	42690373	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.799000	0.85936	2.115000	0.64714	0.397000	0.26171	CTG	.		0.433	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SPINT2	10653	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	38782590	38782590	+	Missense_Mutation	SNP	G	G	A	rs200600070		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:38782590G>A	ENST00000301244.7	+	7	1138	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	CTB-102L5.4_ENST00000591889.1_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.V185I|Y_RNA_ENST00000363339.1_RNA|SPINT2_ENST00000454580.3_Missense_Mutation_p.V178I	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	235					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGCGCACCGTCTGGAGCTC	0.617																																					p.V235I		.											.	SPINT2	90	0			c.G703A						.	G	ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	62.0	49.0	53.0		532,703	0.3	0.1	19		53	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SPINT2	NM_001166103.1,NM_021102.3	29,29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign,benign	178/196,235/253	38782590	4,13002	2203	4300	6503	SO:0001583	missense	10653	exon7			CGCACCGTCTGGA	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.703G>A	19.37:g.38782590G>A	ENSP00000301244:p.Val235Ile	254.0	1.0		150.0	45.0	NM_021102	A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	G	6.788	0.514368	0.12944	6.81E-4	1.16E-4	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.61980	0.44;0.06	5.93	0.263	0.15602	.	0.458984	0.20503	N	0.091046	T	0.41858	0.1177	N	0.26042	0.785	0.09310	N	0.999997	B;B	0.19445	0.036;0.016	B;B	0.12837	0.008;0.005	T	0.19031	-1.0318	10	0.25751	T	0.34	.	7.7255	0.28757	0.4145:0.0:0.5855:0.0	.	178;235	B4DLU1;O43291	.;SPIT2_HUMAN	I	235;178	ENSP00000301244:V235I;ENSP00000389788:V178I	ENSP00000301244:V235I	V	+	1	0	SPINT2	43474430	0.141000	0.22595	0.135000	0.22099	0.201000	0.24016	0.264000	0.18497	0.134000	0.18681	-0.137000	0.14449	GTC	.		0.617	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2		
SPTB	6710	hgsc.bcm.edu;bcgsc.ca	37	14	65241212	65241212	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr14:65241212G>A	ENST00000389721.5	-	23	4908	c.4876C>T	c.(4876-4878)Cat>Tat	p.H1626Y	SPTB_ENST00000389720.3_Missense_Mutation_p.H1626Y|SPTB_ENST00000389722.3_Missense_Mutation_p.H1626Y|SPTB_ENST00000542895.1_Missense_Mutation_p.H1626Y|SPTB_ENST00000556626.1_Missense_Mutation_p.H1626Y	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1626					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCGCAAATGTCGCTTCAGC	0.642																																					p.H1626Y		.											.	SPTB	100	0			c.C4876T						.						19.0	17.0	18.0					14																	65241212		2183	4268	6451	SO:0001583	missense	6710	exon23			GCAAATGTCGCTT		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4876C>T	14.37:g.65241212G>A	ENSP00000374371:p.His1626Tyr	129.0	0.0		81.0	4.0	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620484	0.87460	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.86040	0.1519	10	0.87932	D	0	.	17.6185	0.88074	0.0:0.0:1.0:0.0	.	410;1626;1630	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Y	1630;1626;410;291;1626;1626;1626;1626	ENSP00000374372:H1626Y;ENSP00000451324:H291Y;ENSP00000451752:H1626Y;ENSP00000374371:H1626Y;ENSP00000443882:H1626Y;ENSP00000374370:H1626Y	ENSP00000334218:H410Y	H	-	1	0	SPTB	64310965	1.000000	0.71417	0.994000	0.49952	0.743000	0.42351	9.833000	0.99426	2.428000	0.82296	0.542000	0.68232	CAT	.		0.642	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
SRPX2	27286	hgsc.bcm.edu;bcgsc.ca	37	X	99901349	99901349	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chrX:99901349T>C	ENST00000373004.3	+	2	458	c.30T>C	c.(28-30)gcT>gcC	p.A10A	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	10					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AAAGAGGAGCTCTCTTTCTGC	0.463																																					p.A10A		.											.	SRPX2	132	0			c.T30C						.						155.0	133.0	140.0					X																	99901349		2203	4300	6503	SO:0001819	synonymous_variant	27286	exon2			AGGAGCTCTCTTT	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.30T>C	X.37:g.99901349T>C		49.0	0.0		71.0	4.0	NM_014467	B3KQT3|Q8WW85	Silent	SNP	ENST00000373004.3	37	CCDS14471.1																																																																																			.		0.463	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467	
ST5	6764	hgsc.bcm.edu;bcgsc.ca	37	11	8717087	8717087	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:8717087T>C	ENST00000534127.1	-	22	3687	c.3302A>G	c.(3301-3303)gAg>gGg	p.E1101G	ST5_ENST00000313726.6_Missense_Mutation_p.E1101G|ST5_ENST00000530991.1_Missense_Mutation_p.E573G|ST5_ENST00000534278.1_Missense_Mutation_p.E292G|ST5_ENST00000526099.1_Missense_Mutation_p.E614G|ST5_ENST00000530438.1_Missense_Mutation_p.E681G|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000357665.1_Missense_Mutation_p.E1101G|ST5_ENST00000526757.1_Missense_Mutation_p.E681G|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1101					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CACTCGCTGCTCAAAAAGGCC	0.493																																					p.E1101G		.											.	ST5	227	0			c.A3302G						.						117.0	103.0	108.0					11																	8717087		2201	4296	6497	SO:0001583	missense	6764	exon19			CGCTGCTCAAAAA	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3302A>G	11.37:g.8717087T>C	ENSP00000433528:p.Glu1101Gly	80.0	0.0		60.0	4.0	NM_213618	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409675	0.83340	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.17528	2.74;2.85;2.85;2.76;2.85;2.73;2.27;2.74	5.76	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	L	0.58810	1.83	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.979;0.991;0.991	T	0.07271	-1.0781	10	0.87932	D	0	-18.1556	11.2879	0.49232	0.0:0.072:0.0:0.928	.	614;681;1101	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	G	681;1101;1101;573;1101;614;292;681	ENSP00000435097:E681G;ENSP00000433528:E1101G;ENSP00000319678:E1101G;ENSP00000432887:E573G;ENSP00000350294:E1101G;ENSP00000436808:E614G;ENSP00000433349:E292G;ENSP00000436802:E681G	ENSP00000319678:E1101G	E	-	2	0	ST5	8673663	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.472000	0.80996	1.012000	0.39366	0.454000	0.30748	GAG	.		0.493	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
STIP1	10963	hgsc.bcm.edu;bcgsc.ca	37	11	63970927	63970927	+	Silent	SNP	G	G	T	rs144539134	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:63970927G>T	ENST00000305218.4	+	13	1539	c.1392G>T	c.(1390-1392)gcG>gcT	p.A464A	STIP1_ENST00000358794.5_Silent_p.A511A|STIP1_ENST00000538945.1_Silent_p.A440A	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	464					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGCAGGAGGCGGCAGACGGCT	0.587																																					p.A464A		.											.	STIP1	93	0			c.G1392T						.						40.0	35.0	37.0					11																	63970927		2201	4297	6498	SO:0001819	synonymous_variant	10963	exon13			GGAGGCGGCAGAC	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1392G>T	11.37:g.63970927G>T		94.0	0.0		67.0	4.0	NM_006819	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	37	CCDS8058.1																																																																																			G|1.000;A|0.000		0.587	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819	
SVEP1	79987	hgsc.bcm.edu;bcgsc.ca	37	9	113169313	113169313	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:113169313T>C	ENST00000401783.2	-	38	8903	c.8567A>G	c.(8566-8568)gAa>gGa	p.E2856G	SVEP1_ENST00000374469.1_Missense_Mutation_p.E2833G|SVEP1_ENST00000297826.5_Missense_Mutation_p.E782G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2856	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCAAGTGTATTCAATCTCTTT	0.527																																					p.E2856G		.											.	SVEP1	75	0			c.A8567G						.						67.0	71.0	69.0					9																	113169313		2039	4186	6225	SO:0001583	missense	79987	exon38			GTGTATTCAATCT	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8567A>G	9.37:g.113169313T>C	ENSP00000384917:p.Glu2856Gly	106.0	0.0		78.0	4.0	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	9.434	1.086360	0.20390	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.66995	-0.24;-0.24;-0.24	5.58	1.58	0.23477	Complement control module (2);Sushi/SCR/CCP (3);	0.404899	0.28431	N	0.015362	T	0.64789	0.2630	M	0.80332	2.49	0.58432	D	0.999999	B	0.32653	0.379	B	0.35182	0.197	T	0.60042	-0.7340	10	0.34782	T	0.22	.	8.7548	0.34639	0.1153:0.0:0.2528:0.6319	.	2856	Q4LDE5	SVEP1_HUMAN	G	2856;2833;782	ENSP00000384917:E2856G;ENSP00000363593:E2833G;ENSP00000297826:E782G	ENSP00000297826:E782G	E	-	2	0	SVEP1	112209134	0.281000	0.24258	0.985000	0.45067	0.989000	0.77384	1.525000	0.35953	0.448000	0.26722	0.482000	0.46254	GAA	.		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SYNE1	23345	ucsc.edu;bcgsc.ca	37	6	152605298	152605298	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:152605298C>A	ENST00000367255.5	-	96	18623	c.18022G>T	c.(18022-18024)Gat>Tat	p.D6008Y	SYNE1_ENST00000356820.4_Missense_Mutation_p.D532Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5937Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6008Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5937Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5620Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6008					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)		AGAATCTCATCCATCAATGCC	0.493										HNSCC(10;0.0054)																											p.D6008Y		.											.	SYNE1	607	0			c.G18022T						.						68.0	58.0	62.0					6																	152605298		2203	4300	6503	SO:0001583	missense	23345	exon96			TCTCATCCATCAA	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.18022G>T	6.37:g.152605298C>A	ENSP00000356224:p.Asp6008Tyr	75.0	0.0		38.0	4.0	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196130	0.78902	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.84	5.84	0.93424	.	0.188149	0.36740	N	0.002425	T	0.53029	0.1771	L	0.56769	1.78	0.44789	D	0.997798	D;P;P;D	0.89917	0.999;0.907;0.907;1.0	P;B;B;D	0.78314	0.885;0.396;0.396;0.991	T	0.52200	-0.8607	10	0.72032	D	0.01	.	20.2031	0.98269	0.0:1.0:0.0:0.0	.	423;6008;6008;5937	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	6008;5937;6008;5937;5620;532;183	ENSP00000356224:D6008Y;ENSP00000396024:D5937Y;ENSP00000265368:D6008Y;ENSP00000390975:D5937Y;ENSP00000341887:D5620Y;ENSP00000349276:D532Y;ENSP00000437411:D183Y	ENSP00000265368:D6008Y	D	-	1	0	SYNE1	152646991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.568000	0.60857	2.785000	0.95823	0.650000	0.86243	GAT	.		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
T	6862	hgsc.bcm.edu;bcgsc.ca	37	6	166579280	166579280	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:166579280T>C	ENST00000296946.2	-	4	988	c.520A>G	c.(520-522)Aga>Gga	p.R174G	T_ENST00000366871.3_Missense_Mutation_p.R174G	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	174					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCCCCAACTCTCACTATGTGG	0.512									Chordoma, Familial Clustering of																												p.R174G		.											.	T	516	0			c.A520G						.						325.0	287.0	300.0					6																	166579280		2203	4300	6503	SO:0001583	missense	6862	exon4	Familial Cancer Database		CAACTCTCACTAT	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.520A>G	6.37:g.166579280T>C	ENSP00000296946:p.Arg174Gly	157.0	0.0		99.0	6.0	NM_003181	E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879969	0.33162	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	T;T;T	0.80824	-1.42;-1.42;-1.42	4.94	0.963	0.19649	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.93638	3.44	0.80722	D	1	D;P;D	0.67145	0.996;0.86;0.981	D;P;D	0.68039	0.955;0.573;0.939	D	0.90366	0.4377	10	0.87932	D	0	.	13.6508	0.62310	0.0:0.0:0.5534:0.4466	.	174;174;174	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	G	174	ENSP00000355841:R174G;ENSP00000296946:R174G;ENSP00000355836:R174G	ENSP00000296946:R174G	R	-	1	2	T	166499270	1.000000	0.71417	0.939000	0.37840	0.103000	0.19146	2.046000	0.41260	-0.070000	0.12908	-0.488000	0.04728	AGA	.		0.512	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
TBC1D2B	23102	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	78301403	78301403	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:78301403A>G	ENST00000300584.3	-	10	2323	c.2324T>C	c.(2323-2325)cTc>cCc	p.L775P	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L775P	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	775	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TATGGTAACGAGACACCAGAA	0.463																																					p.L775P		.											.	TBC1D2B	136	0			c.T2324C						.						68.0	56.0	60.0					15																	78301403		2196	4293	6489	SO:0001583	missense	23102	exon10			GTAACGAGACACC	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2324T>C	15.37:g.78301403A>G	ENSP00000300584:p.Leu775Pro	95.0	0.0		36.0	4.0	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.226687|4.226687	0.79576|0.79576	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.16324|.	2.35;2.35|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Rab-GAP/TBC domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88422|0.88422	0.6432|0.6432	H|H	0.98507|0.98507	4.25|4.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	D|D	0.92549|0.92549	0.6048|0.6048	10|5	0.87932|.	D|.	0|.	.|.	13.7935|13.7935	0.63157|0.63157	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	775;227;775|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	P|P	775|657	ENSP00000387165:L775P;ENSP00000300584:L775P|.	ENSP00000300584:L775P|.	L|S	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76088458|76088458	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.956000|0.956000	0.61745|0.61745	9.120000|9.120000	0.94369|0.94369	1.914000|1.914000	0.55421|0.55421	0.533000|0.533000	0.62120|0.62120	CTC|TCG	.		0.463	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
TBC1D2B	23102	hgsc.bcm.edu;bcgsc.ca	37	15	78308988	78308988	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:78308988C>T	ENST00000300584.3	-	8	1674	c.1675G>A	c.(1675-1677)Ggg>Agg	p.G559R	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.G559R	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	559							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CGGGTGGGCCCCTGGTCTTCT	0.512																																					p.G559R		.											.	TBC1D2B	136	0			c.G1675A						.						74.0	58.0	63.0					15																	78308988		2196	4293	6489	SO:0001583	missense	23102	exon8			TGGGCCCCTGGTC	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1675G>A	15.37:g.78308988C>T	ENSP00000300584:p.Gly559Arg	105.0	0.0		75.0	4.0	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881857	0.72294	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.08546	3.08;3.08	5.46	5.46	0.80206	.	0.263668	0.42420	D	0.000716	T	0.19327	0.0464	M	0.70595	2.14	0.44995	D	0.998011	D;P;P	0.53462	0.96;0.773;0.933	P;B;P	0.54312	0.748;0.219;0.564	T	0.00403	-1.1761	10	0.33141	T	0.24	.	11.6469	0.51265	0.0:0.91:0.0:0.09	.	559;11;559	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	R	559	ENSP00000387165:G559R;ENSP00000300584:G559R	ENSP00000300584:G559R	G	-	1	0	TBC1D2B	76096043	1.000000	0.71417	0.907000	0.35723	0.930000	0.56654	2.912000	0.48782	2.572000	0.86782	0.591000	0.81541	GGG	.		0.512	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
TBC1D9B	23061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	179298474	179298474	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:179298474G>A	ENST00000356834.3	-	15	2509	c.2472C>T	c.(2470-2472)taC>taT	p.Y824Y	TBC1D9B_ENST00000444477.2_5'UTR|TBC1D9B_ENST00000355235.3_Silent_p.Y824Y|TBC1D9B_ENST00000519746.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	824						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAACACCATGTAAAGGTCCT	0.478																																					p.Y824Y		.											.	TBC1D9B	154	0			c.C2472T						.						92.0	73.0	80.0					5																	179298474		2203	4300	6503	SO:0001819	synonymous_variant	23061	exon15			CACCATGTAAAGG	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2472C>T	5.37:g.179298474G>A		159.0	0.0		112.0	18.0	NM_198868	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	CCDS43408.1																																																																																			.		0.478	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	
TBX10	347853	hgsc.bcm.edu;bcgsc.ca	37	11	67406938	67406938	+	Splice_Site	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:67406938T>C	ENST00000335385.3	-	1	93	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	2					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GTAGCCTACCTGCCATGGAGA	0.637																																					p.A2A		.											.	TBX10	90	0			c.A6G						.						79.0	56.0	64.0					11																	67406938		2200	4294	6494	SO:0001630	splice_region_variant	347853	exon1			CCTACCTGCCATG	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.7+1A>G	11.37:g.67406938T>C		99.0	0.0		66.0	4.0	NM_005995	Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	CCDS31621.1																																																																																			.		0.637	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995	Silent
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	46657993	46657993	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:46657993G>A	ENST00000316081.6	+	1	2128	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	TDRD6_ENST00000544460.1_Missense_Mutation_p.A710T|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	710					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGAGCAGAAAGCCAAGAGAGA	0.413																																					p.A710T		.											.	TDRD6	138	0			c.G2128A						.						40.0	41.0	40.0					6																	46657993		2203	4300	6503	SO:0001583	missense	221400	exon1			CAGAAAGCCAAGA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2128G>A	6.37:g.46657993G>A	ENSP00000346065:p.Ala710Thr	272.0	0.0		197.0	60.0	NM_001168359	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226105	0.39300	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14516	2.5;2.5	5.85	1.51	0.23008	.	1.271800	0.04881	N	0.447652	T	0.02727	0.0082	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.014	B;B	0.12156	0.007;0.004	T	0.40515	-0.9559	10	0.11794	T	0.64	-2.727	1.661	0.02792	0.2038:0.2613:0.3996:0.1354	.	710;710	F5H5M3;O60522	.;TDRD6_HUMAN	T	710	ENSP00000443299:A710T;ENSP00000346065:A710T	ENSP00000346065:A710T	A	+	1	0	TDRD6	46765952	0.000000	0.05858	0.020000	0.16555	0.676000	0.39594	0.398000	0.20899	0.275000	0.22094	0.655000	0.94253	GCC	.		0.413	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TMC2	117532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	2593953	2593953	+	Missense_Mutation	SNP	C	C	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr20:2593953C>G	ENST00000358864.1	+	14	1872	c.1857C>G	c.(1855-1857)gaC>gaG	p.D619E	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	619					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTGCTGGGACTTGGAGGCTG	0.483																																					p.D619E		.											.	TMC2	93	0			c.C1857G						.						210.0	166.0	181.0					20																	2593953		2203	4300	6503	SO:0001583	missense	117532	exon14			CTGGGACTTGGAG	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1857C>G	20.37:g.2593953C>G	ENSP00000351732:p.Asp619Glu	513.0	0.0		313.0	68.0	NM_080751	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615110	0.66672	.	.	ENSG00000149488	ENST00000358864	T	0.62941	-0.01	4.93	1.94	0.25998	.	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.82323	2.585	0.43819	D	0.996384	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.74262	-0.3722	10	0.87932	D	0	-26.7544	7.2386	0.26084	0.0:0.645:0.0:0.355	.	450;451;619;619	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	E	619	ENSP00000351732:D619E	ENSP00000351732:D619E	D	+	3	2	TMC2	2541953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.052000	0.41316	0.235000	0.21160	0.655000	0.94253	GAC	.		0.483	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
TMEM104	54868	hgsc.bcm.edu;ucsc.edu	37	17	72784959	72784959	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:72784959A>G	ENST00000335464.5	+	4	361	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	TMEM104_ENST00000582330.1_Missense_Mutation_p.M67V|TMEM104_ENST00000417024.2_Missense_Mutation_p.M80V|TMEM104_ENST00000582773.1_Missense_Mutation_p.M67V	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	67						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GATAGAGGCCATGGCTGCAGC	0.602																																					p.M67V		.											.	TMEM104	90	0			c.A199G						.						80.0	66.0	71.0					17																	72784959		2203	4300	6503	SO:0001583	missense	54868	exon4			GAGGCCATGGCTG	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.199A>G	17.37:g.72784959A>G	ENSP00000334849:p.Met67Val	48.0	0.0		42.0	4.0	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712411	0.89112	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.52754	1.32;0.65	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.78049	2.395	0.80722	D	1	D;D;D	0.63046	0.962;0.988;0.992	P;P;P	0.60117	0.843;0.793;0.869	T	0.71210	-0.4660	10	0.66056	D	0.02	-41.044	14.2094	0.65755	1.0:0.0:0.0:0.0	.	80;67;67	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	V	67;80	ENSP00000334849:M67V;ENSP00000397676:M80V	ENSP00000334849:M67V	M	+	1	0	TMEM104	70296554	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.928000	0.92853	1.816000	0.52996	0.459000	0.35465	ATG	.		0.602	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
TMEM201	199953	hgsc.bcm.edu;bcgsc.ca	37	1	9669927	9669927	+	Missense_Mutation	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:9669927C>T	ENST00000340381.6	+	8	1432	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	TMEM201_ENST00000377376.4_Intron	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	475	Ser-rich.				fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGGTAGCCGCCCACCATCTCA	0.602																																					p.P475S		.											.	TMEM201	68	0			c.C1423T						.						37.0	37.0	37.0					1																	9669927		692	1591	2283	SO:0001583	missense	199953	exon8			AGCCGCCCACCAT		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1423C>T	1.37:g.9669927C>T	ENSP00000344503:p.Pro475Ser	133.0	0.0		80.0	4.0	NM_001130924	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436826	0.83885	.	.	ENSG00000188807	ENST00000340381	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.36672	1.1	0.80722	D	1	.	.	.	.	.	.	T	0.54899	-0.8224	7	0.30854	T	0.27	-17.0285	17.7376	0.88399	0.0:1.0:0.0:0.0	.	.	.	.	S	475	.	ENSP00000344503:P475S	P	+	1	0	TMEM201	9592514	1.000000	0.71417	0.989000	0.46669	0.838000	0.47535	6.151000	0.71806	2.630000	0.89119	0.655000	0.94253	CCA	.		0.602	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866	
TMPRSS9	360200	hgsc.bcm.edu;bcgsc.ca	37	19	2396594	2396594	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:2396594G>T	ENST00000332578.3	+	2	200	c.200G>T	c.(199-201)cGg>cTg	p.R67L	TMPRSS9_ENST00000592650.1_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	67					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGAATCCGGTGGACCAGC	0.672																																					p.R67L		.											.	TMPRSS9	91	0			c.G200T						.						30.0	25.0	27.0					19																	2396594		2203	4300	6503	SO:0001583	missense	360200	exon2			GAATCCGGTGGAC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.200G>T	19.37:g.2396594G>T	ENSP00000330264:p.Arg67Leu	131.0	0.0		89.0	5.0	NM_182973	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	9.892	1.204588	0.22205	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88124	-2.34	3.98	0.292	0.15737	.	1.008230	0.07982	N	0.985760	T	0.80308	0.4599	L	0.45581	1.43	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.17979	0.003;0.02	T	0.65076	-0.6256	10	0.34782	T	0.22	.	3.8038	0.08768	0.0967:0.2911:0.4637:0.1484	.	67;67	Q7Z410;E7EMP4	TMPS9_HUMAN;.	L	67	ENSP00000330264:R67L	ENSP00000330264:R67L	R	+	2	0	TMPRSS9	2347594	0.000000	0.05858	0.028000	0.17463	0.005000	0.04900	-0.952000	0.03881	0.783000	0.33636	-0.314000	0.08810	CGG	.		0.672	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	
TRANK1	9881	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	36875346	36875346	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:36875346A>G	ENST00000429976.2	-	21	5843	c.5596T>C	c.(5596-5598)Ttt>Ctt	p.F1866L	TRANK1_ENST00000301807.6_Missense_Mutation_p.F1316L|TRANK1_ENST00000428977.2_Missense_Mutation_p.F1316L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1866							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCAAGTAAAACTGACTGGCA	0.423																																					p.F1866L		.											.	TRANK1	24	0			c.T5596C						.						85.0	82.0	83.0					3																	36875346		1876	4098	5974	SO:0001583	missense	9881	exon21			AGTAAAACTGACT	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5596T>C	3.37:g.36875346A>G	ENSP00000416168:p.Phe1866Leu	189.0	0.0		110.0	5.0	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	7.916	0.737610	0.15574	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.28454	1.61;2.02;1.61	5.27	4.12	0.48240	.	0.221002	0.31797	N	0.007044	T	0.12689	0.0308	N	0.08118	0	0.32702	N	0.512762	B	0.06786	0.001	B	0.01281	0.0	T	0.25641	-1.0126	10	0.02654	T	1	.	9.7673	0.40567	0.8559:0.0:0.1441:0.0	.	1866	O15050	TRNK1_HUMAN	L	1316;1866;1316	ENSP00000416826:F1316L;ENSP00000416168:F1866L;ENSP00000301807:F1316L	ENSP00000301807:F1316L	F	-	1	0	TRANK1	36850350	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.479000	0.35453	0.966000	0.38159	0.448000	0.29417	TTT	.		0.423	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRAPPC8	22878	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	29488317	29488317	+	Missense_Mutation	SNP	C	C	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:29488317C>A	ENST00000283351.4	-	8	1522	c.1187G>T	c.(1186-1188)aGt>aTt	p.S396I	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S342I|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.S396I	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	396					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGAACTTTACTGCCACTAAA	0.318																																					p.S396I		.											.	TRAPPC8	159	0			c.G1187T						.						98.0	96.0	97.0					18																	29488317		2202	4297	6499	SO:0001583	missense	22878	exon8			ACTTTACTGCCAC	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1187G>T	18.37:g.29488317C>A	ENSP00000283351:p.Ser396Ile	318.0	1.0		229.0	47.0	NM_014939	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405778	0.42715	.	.	ENSG00000153339	ENST00000283351	T	0.21734	1.99	5.72	4.84	0.62591	.	0.111191	0.64402	D	0.000003	T	0.42086	0.1187	M	0.63843	1.955	0.52501	D	0.99995	D;D	0.63880	0.984;0.993	P;D	0.66196	0.903;0.942	T	0.25572	-1.0128	10	0.46703	T	0.11	.	15.0078	0.71527	0.0:0.9307:0.0:0.0693	.	396;396	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	I	396	ENSP00000283351:S396I	ENSP00000283351:S396I	S	-	2	0	TRAPPC8	27742315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.486000	0.60286	1.394000	0.46624	0.591000	0.81541	AGT	.		0.318	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
TRIM41	90933	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	180662368	180662368	+	3'UTR	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:180662368A>G	ENST00000315073.5	+	0	3196				TRIM41_ENST00000351937.5_Missense_Mutation_p.S516G	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGAATTTAGCTTCACTTG	0.418																																					p.S516G		.											.	TRIM41	226	0			c.A1546G						.						82.0	78.0	79.0					5																	180662368		2203	4300	6503	SO:0001624	3_prime_UTR_variant	90933	exon8			GAATTTAGCTTCA	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.*593A>G	5.37:g.180662368A>G		264.0	0.0		254.0	55.0	NM_201627	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826614	0.50739	.	.	ENSG00000146063	ENST00000351937	T	0.38240	1.15	4.45	3.29	0.37713	.	.	.	.	.	T	0.18299	0.0439	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.04930	-1.0917	9	0.66056	D	0.02	.	6.6107	0.22749	0.8943:0.0:0.1057:0.0	.	516	Q8WV44-2	.	G	516	ENSP00000336749:S516G	ENSP00000336749:S516G	S	+	1	0	TRIM41	180594974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.717000	0.37991	1.047000	0.40274	0.459000	0.35465	AGC	.		0.418	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
TSPAN32	10077	hgsc.bcm.edu;bcgsc.ca	37	11	2337500	2337500	+	Silent	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr11:2337500G>A	ENST00000182290.4	+	7	722	c.585G>A	c.(583-585)caG>caA	p.Q195Q	TSPAN32_ENST00000451520.2_Silent_p.Q184Q|TSPAN32_ENST00000381121.3_Silent_p.Q195Q	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	195					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGACACACCAGCAGGTCGCCT	0.687																																					p.Q195Q		.											.	TSPAN32	23	0			c.G585A						.						58.0	48.0	51.0					11																	2337500		2200	4295	6495	SO:0001819	synonymous_variant	10077	exon7			ACACCAGCAGGTC	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.585G>A	11.37:g.2337500G>A		203.0	0.0		120.0	6.0	NM_139022	Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	CCDS7733.1																																																																																			.		0.687	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024	
TTI2	80185	hgsc.bcm.edu;bcgsc.ca	37	8	33357923	33357923	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:33357923A>G	ENST00000431156.2	-	7	1963	c.1345T>C	c.(1345-1347)Tct>Cct	p.S449P	TTI2_ENST00000360742.5_Missense_Mutation_p.S449P|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.S418P|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	449																	CTCTTAACAGACTCAGGTGTA	0.498																																					p.S449P		.											.	.	.	0			c.T1345C						.						105.0	91.0	96.0					8																	33357923		2203	4300	6503	SO:0001583	missense	80185	exon7			TAACAGACTCAGG	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1345T>C	8.37:g.33357923A>G	ENSP00000411169:p.Ser449Pro	93.0	0.0		53.0	5.0	NM_001265581	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.158687	0.00321	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.55760	0.54;0.54;0.5	5.18	1.08	0.20341	.	0.522635	0.19441	N	0.114163	T	0.11110	0.0271	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28586	-1.0039	10	0.02654	T	1	-0.0243	0.9793	0.01433	0.2886:0.1622:0.3939:0.1553	.	449;418	Q6NXR4;E5RIH5	TTI2_HUMAN;.	P	449;449;438;418	ENSP00000353971:S449P;ENSP00000411169:S449P;ENSP00000428401:S418P	ENSP00000353971:S449P	S	-	1	0	C8orf41	33477465	0.000000	0.05858	0.001000	0.08648	0.167000	0.22549	-0.104000	0.10923	-0.096000	0.12329	-0.479000	0.04858	TCT	.		0.498	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
TTN	7273	hgsc.bcm.edu;bcgsc.ca	37	2	179393915	179393915	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:179393915A>G	ENST00000591111.1	-	310	101864	c.101640T>C	c.(101638-101640)tcT>tcC	p.S33880S	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S26581S|TTN_ENST00000460472.2_Silent_p.S26456S|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000342992.6_Silent_p.S32953S|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S26648S|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Silent_p.S35521S|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33880					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)			TCTTTTGTGTAGAGACTTTCT	0.378																																					p.S35521S		.											.	TTN	636	0			c.T106563C						.						19.0	18.0	19.0					2																	179393915		1799	4058	5857	SO:0001819	synonymous_variant	7273	exon360			TTGTGTAGAGACT	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.101640T>C	2.37:g.179393915A>G		99.0	0.0		63.0	4.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179396537	179396537	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:179396537A>G	ENST00000591111.1	-	308	100106	c.99882T>C	c.(99880-99882)ccT>ccC	p.P33294P	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P25995P|TTN_ENST00000460472.2_Silent_p.P25870P|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.P32367P|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P26062P|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Silent_p.P34935P|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33294					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)			CCAGTGTGAAAGGCTGCTGAC	0.423																																					p.P34935P		.											.	TTN	636	0			c.T104805C						.						64.0	63.0	63.0					2																	179396537		1990	4159	6149	SO:0001819	synonymous_variant	7273	exon358			TGTGAAAGGCTGC	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.99882T>C	2.37:g.179396537A>G		242.0	0.0		144.0	43.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179458397	179458397	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:179458397G>T	ENST00000591111.1	-	248	53931	c.53707C>A	c.(53707-53709)Cta>Ata	p.L17903I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L10604I|TTN_ENST00000460472.2_Missense_Mutation_p.L10479I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16976I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10671I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19544I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17903	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCAAGTAGTTTAGAAACT	0.358																																					p.L19544I		.											.	TTN	636	0			c.C58630A						.						97.0	92.0	93.0					2																	179458397		1853	4089	5942	SO:0001583	missense	7273	exon298			CAAGTAGTTTAGA	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.53707C>A	2.37:g.179458397G>T	ENSP00000465570:p.Leu17903Ile	269.0	0.0		201.0	56.0	NM_001267550	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	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	9.206	1.029740	0.19512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.02	2.88	0.33553	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94331	0.8178	H	0.96996	3.92	0.45452	D	0.998423	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.94927	0.8079	9	0.87932	D	0	.	12.0732	0.53628	0.2571:0.0:0.7429:0.0	.	10479;10604;10671;17903	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16976;10479;10671;10604;10477	ENSP00000343764:L16976I;ENSP00000434586:L10479I;ENSP00000340554:L10671I;ENSP00000352154:L10604I	ENSP00000340554:L10671I	L	-	1	2	TTN	179166643	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.478000	0.66806	0.895000	0.36342	-0.808000	0.03180	CTA	.		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TXLNB	167838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	139564133	139564133	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:139564133T>A	ENST00000358430.3	-	10	1817	c.1585A>T	c.(1585-1587)Agt>Tgt	p.S529C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	529						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCCTGAGAACTGCCTATTTCG	0.547																																					p.S529C		.											.	TXLNB	91	0			c.A1585T						.						98.0	106.0	103.0					6																	139564133		2203	4300	6503	SO:0001583	missense	167838	exon10			GAGAACTGCCTAT		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1585A>T	6.37:g.139564133T>A	ENSP00000351206:p.Ser529Cys	267.0	0.0		174.0	47.0	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533093	0.27387	.	.	ENSG00000164440	ENST00000358430	T	0.16196	2.36	5.54	-0.719	0.11201	.	1.398390	0.04259	N	0.339998	T	0.03220	0.0094	L	0.27053	0.805	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.40365	-0.9567	9	.	.	.	-0.2153	4.6013	0.12354	0.1467:0.3669:0.0:0.4865	.	529	Q8N3L3	TXLNB_HUMAN	C	529	ENSP00000351206:S529C	.	S	-	1	0	TXLNB	139605826	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.408000	0.07169	0.082000	0.17018	0.460000	0.39030	AGT	.		0.547	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235	
TXNL4A	10907	hgsc.bcm.edu;bcgsc.ca	37	18	77748286	77748286	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr18:77748286G>T	ENST00000269601.5	-	1	307	c.107C>A	c.(106-108)cCt>cAt	p.P36H	TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000592957.1_Intron|TXNL4A_ENST00000591711.1_Missense_Mutation_p.P36H|TXNL4A_ENST00000588162.1_Missense_Mutation_p.P36H	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	36					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CATGCACGTAGGATCCCAGTC	0.657																																					p.P36H	Ovarian(160;2333 2597 11821 36245)	.											.	TXNL4A	90	0			c.C107A						.						75.0	50.0	59.0					18																	77748286		2203	4300	6503	SO:0001583	missense	10907	exon1			CACGTAGGATCCC	AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.107C>A	18.37:g.77748286G>T	ENSP00000269601:p.Pro36His	122.0	0.0		67.0	5.0	NM_006701	B2RC18|O14834	Missense_Mutation	SNP	ENST00000269601.5	37	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236384	0.58886	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	4.45	3.57	0.40892	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.80380	0.4612	M	0.90252	3.1	0.58432	D	0.999999	D;B	0.69078	0.997;0.09	D;B	0.66979	0.948;0.099	D	0.83531	0.0091	9	0.66056	D	0.02	-26.0171	12.2191	0.54423	0.0849:0.0:0.9151:0.0	.	36;36	O14835;P83876	.;TXN4A_HUMAN	H	36	.	ENSP00000269601:P36H	P	-	2	0	TXNL4A	75849274	1.000000	0.71417	0.869000	0.34112	0.070000	0.16714	8.375000	0.90135	0.994000	0.38892	0.655000	0.94253	CCT	.		0.657	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1	NM_006701	
UBR3	130507	hgsc.bcm.edu;bcgsc.ca	37	2	170897404	170897404	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr2:170897404A>G	ENST00000272793.5	+	32	4619	c.4569A>G	c.(4567-4569)gaA>gaG	p.E1523E	UBR3_ENST00000418381.1_Silent_p.E1523E|UBR3_ENST00000392631.1_Silent_p.E344E			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1523					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGGGATATGAAGAACAACAGC	0.333																																					p.E1523E		.											.	UBR3	68	0			c.A4569G						.						112.0	104.0	107.0					2																	170897404		2203	4300	6503	SO:0001819	synonymous_variant	130507	exon32			ATATGAAGAACAA	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4569A>G	2.37:g.170897404A>G		151.0	0.0		93.0	4.0	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	A	8.635	0.894600	0.17613	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.27	1.32	0.21799	.	.	.	.	.	T	0.43986	0.1272	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	3.0354	0.06121	0.5147:0.0:0.2027:0.2826	.	.	.	.	R	585	.	.	K	+	2	0	UBR3	170605650	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.865000	0.27940	0.399000	0.25367	0.477000	0.44152	AAG	.		0.333	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
UGT2A1	10941	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	70504997	70504997	+	Intron	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr4:70504997C>T	ENST00000503640.1	-	1	771				UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.G121E|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G322E	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGAAGTTTTCCTAGTTCTTT	0.363																																					p.G322E		.											.	UGT2A1	92	0			c.G965A						.						98.0	95.0	96.0					4																	70504997		1843	4081	5924	SO:0001627	intron_variant	10941	exon3			AGTTTTCCTAGTT	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7650G>A	4.37:g.70504997C>T		212.0	0.0		120.0	7.0	NM_001252274	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	4.375	0.069181	0.08436	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61158	0.36;0.13	5.85	5.01	0.66863	.	.	.	.	.	T	0.32041	0.0816	N	0.04508	-0.205	.	.	.	B;P	0.39424	0.032;0.673	B;B	0.36719	0.046;0.231	T	0.41680	-0.9495	8	0.27082	T	0.32	.	8.9764	0.35939	0.0:0.8346:0.0:0.1654	.	322;121	E9PDM7;Q9Y4X1-2	.;.	E	121;322	ENSP00000387888:G121E;ENSP00000425497:G322E	ENSP00000387888:G121E	G	-	2	0	UGT2A1	70539586	0.000000	0.05858	1.000000	0.80357	0.105000	0.19272	0.584000	0.23864	1.495000	0.48549	-0.237000	0.12165	GGA	.		0.363	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
UROC1	131669	hgsc.bcm.edu;bcgsc.ca	37	3	126220121	126220121	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:126220121T>C	ENST00000290868.2	-	10	958	c.905A>G	c.(904-906)gAa>gGa	p.E302G	UROC1_ENST00000383579.3_Missense_Mutation_p.E362G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	302					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTTCCTTGCTTCCCTGGAAGG	0.587																																					p.E362G		.											.	UROC1	91	0			c.A1085G						.						182.0	173.0	176.0					3																	126220121		2203	4300	6503	SO:0001583	missense	131669	exon11			CTTGCTTCCCTGG	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.905A>G	3.37:g.126220121T>C	ENSP00000290868:p.Glu302Gly	83.0	0.0		50.0	4.0	NM_001165974	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449780	0.43531	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.49432	0.78;0.78	4.95	2.37	0.29283	Urocanase domain (2);	0.104250	0.64402	D	0.000004	T	0.54046	0.1834	M	0.77313	2.365	0.48762	D	0.999701	P;B	0.37688	0.605;0.292	P;B	0.45712	0.491;0.232	T	0.53229	-0.8468	10	0.72032	D	0.01	-9.8843	8.2748	0.31866	0.317:0.0:0.0:0.683	.	362;302	E9PE13;Q96N76	.;HUTU_HUMAN	G	302;362	ENSP00000290868:E302G;ENSP00000373073:E362G	ENSP00000290868:E302G	E	-	2	0	UROC1	127702811	1.000000	0.71417	0.994000	0.49952	0.184000	0.23303	5.644000	0.67902	0.183000	0.20059	0.402000	0.26972	GAA	.		0.587	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
USP36	57602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	76799931	76799931	+	Silent	SNP	C	C	A	rs577284191	byFrequency	TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr17:76799931C>A	ENST00000542802.3	-	16	2789	c.2346G>T	c.(2344-2346)acG>acT	p.T782T	USP36_ENST00000312010.6_Silent_p.T782T|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	782					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGGCAGCGCCGTCGAGATGG	0.637																																					p.T782T		.											.	USP36	659	0			c.G2346T						.						37.0	41.0	40.0					17																	76799931		2177	4243	6420	SO:0001819	synonymous_variant	57602	exon16			CAGCGCCGTCGAG	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2346G>T	17.37:g.76799931C>A		107.0	0.0		68.0	19.0	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																			.		0.637	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
USP44	84101	hgsc.bcm.edu;bcgsc.ca	37	12	95922582	95922582	+	Splice_Site	SNP	C	C	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:95922582C>T	ENST00000258499.3	-	3	1913		c.e3+1		USP44_ENST00000537435.2_Splice_Site|USP44_ENST00000393091.2_Splice_Site|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTTTACTCACAGTTACACTG	0.383																																					.		.											.	USP44	658	0			c.1624+1G>A						.						108.0	103.0	105.0					12																	95922582		2203	4300	6503	SO:0001630	splice_region_variant	84101	exon4			TACTCACAGTTAC	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1624+1G>A	12.37:g.95922582C>T		176.0	0.0		100.0	5.0	NM_032147	B2RDW3	Splice_Site	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335778	0.81801	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7538	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP44	94446713	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.750000	0.85110	2.739000	0.93911	0.561000	0.74099	.	.		0.383	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	Intron
USPL1	10208	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	31232538	31232538	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr13:31232538T>C	ENST00000255304.4	+	9	2666	c.2324T>C	c.(2323-2325)gTt>gCt	p.V775A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	775					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CCACTCTGTGTTTCAGCTCAT	0.368																																					p.V775A	Ovarian(60;318 1180 1554 28110 31601)	.											.	USPL1	524	0			c.T2324C						.						82.0	88.0	86.0					13																	31232538		2203	4300	6503	SO:0001583	missense	10208	exon9			TCTGTGTTTCAGC	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2324T>C	13.37:g.31232538T>C	ENSP00000255304:p.Val775Ala	123.0	0.0		83.0	5.0	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	T	2.735	-0.263449	0.05754	.	.	ENSG00000132952	ENST00000255304	T	0.16073	2.37	5.76	4.62	0.57501	.	0.212421	0.39615	N	0.001313	T	0.11196	0.0273	L	0.38838	1.175	0.29185	N	0.876263	B	0.30563	0.285	B	0.35470	0.203	T	0.24154	-1.0168	10	0.06099	T	0.92	-24.8906	5.3667	0.16117	0.0:0.1944:0.0:0.8056	.	775	Q5W0Q7	USPL1_HUMAN	A	775	ENSP00000255304:V775A	ENSP00000255304:V775A	V	+	2	0	USPL1	30130538	1.000000	0.71417	0.995000	0.50966	0.424000	0.31475	2.390000	0.44416	2.201000	0.70794	0.533000	0.62120	GTT	.		0.368	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
VCAN	1462	hgsc.bcm.edu;bcgsc.ca	37	5	82833999	82833999	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:82833999A>G	ENST00000265077.3	+	8	5742	c.5177A>G	c.(5176-5178)aAg>aGg	p.K1726R	VCAN_ENST00000343200.5_Missense_Mutation_p.K739R|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1726	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGAAAAGGAAGGAGGAGGAG	0.408																																					p.K1726R		.											.	VCAN	238	0			c.A5177G						.						83.0	86.0	85.0					5																	82833999		2201	4300	6501	SO:0001583	missense	1462	exon8			AAAGGAAGGAGGA	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5177A>G	5.37:g.82833999A>G	ENSP00000265077:p.Lys1726Arg	48.0	0.0		71.0	4.0	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301347	0.40694	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85411	-1.95;-1.98;3.17	5.96	4.76	0.60689	.	0.816378	0.11310	N	0.577186	T	0.75817	0.3901	L	0.29908	0.895	0.20307	N	0.999916	P;P	0.41848	0.763;0.651	B;B	0.36608	0.229;0.115	T	0.63501	-0.6623	10	0.19147	T	0.46	.	12.1863	0.54241	0.8583:0.1416:0.0:0.0	.	739;1726	P13611-2;P13611	.;CSPG2_HUMAN	R	1726;739;739	ENSP00000265077:K1726R;ENSP00000340062:K739R;ENSP00000426251:K739R	ENSP00000265077:K1726R	K	+	2	0	VCAN	82869755	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.666000	0.25097	2.285000	0.76669	0.533000	0.62120	AAG	.		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VPRBP	9730	hgsc.bcm.edu;bcgsc.ca	37	3	51456190	51456190	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:51456190T>C	ENST00000335891.5	-	8	2039	c.2030A>G	c.(2029-2031)cAg>cGg	p.Q677R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1126					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCCTCCTCCTGTCCACTAAA	0.522																																					p.Q1073R		.											.	VPRBP	92	0			c.A3218G						.						121.0	123.0	122.0					3																	51456190		2025	4200	6225	SO:0001583	missense	9730	exon15			TCCTCCTGTCCAC	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2030A>G	3.37:g.51456190T>C	ENSP00000338857:p.Gln677Arg	125.0	0.0		74.0	4.0	NM_014703	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	T	17.75	3.465637	0.63513	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.01313	5.02;5.02	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	L	0.31926	0.97	0.58432	D	0.999999	P	0.46512	0.879	B	0.42827	0.399	T	0.74297	-0.3711	10	0.16420	T	0.52	-14.9248	16.4943	0.84223	0.0:0.0:0.0:1.0	.	1126	Q9Y4B6	VPRBP_HUMAN	R	697;677	ENSP00000393183:Q697R;ENSP00000338857:Q677R	ENSP00000338857:Q677R	Q	-	2	0	VPRBP	51431230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.474000	0.81024	2.291000	0.77112	0.533000	0.62120	CAG	.		0.522	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
WDR72	256764	hgsc.bcm.edu;bcgsc.ca	37	15	54003136	54003136	+	Missense_Mutation	SNP	C	C	T	rs374482757		TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:54003136C>T	ENST00000396328.1	-	9	1111	c.872G>A	c.(871-873)aGc>aAc	p.S291N	WDR72_ENST00000557913.1_Missense_Mutation_p.S290N|WDR72_ENST00000559418.1_Missense_Mutation_p.S303N|WDR72_ENST00000360509.5_Missense_Mutation_p.S291N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	291										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)		AGGGTATATGCTTTTTGAAAG	0.388																																					p.S291N		.											.	WDR72	92	0			c.G872A						.	C	ASN/SER	2,4386	4.2+/-10.8	0,2,2192	110.0	100.0	104.0		872	5.6	1.0	15		104	0,8586		0,0,4293	no	missense	WDR72	NM_182758.2	46	0,2,6485	TT,TC,CC		0.0,0.0456,0.0154	benign	291/1103	54003136	2,12972	2194	4293	6487	SO:0001583	missense	256764	exon9			TATATGCTTTTTG	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.872G>A	15.37:g.54003136C>T	ENSP00000379619:p.Ser291Asn	47.0	0.0		52.0	4.0	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969668	0.34754	4.56E-4	0.0	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.55052	0.54;0.54	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108147	0.64402	D	0.000004	T	0.45617	0.1351	L	0.44542	1.39	0.31561	N	0.657464	P	0.47106	0.89	B	0.37943	0.261	T	0.53019	-0.8497	10	0.27785	T	0.31	.	18.9191	0.92518	0.0:1.0:0.0:0.0	.	291	Q3MJ13	WDR72_HUMAN	N	291	ENSP00000379619:S291N;ENSP00000353699:S291N	ENSP00000353699:S291N	S	-	2	0	WDR72	51790428	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.017000	0.64047	2.778000	0.95560	0.655000	0.94253	AGC	.		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	62352482	62352482	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr15:62352482A>C	ENST00000261517.5	-	1	165	c.92T>G	c.(91-93)aTc>aGc	p.I31S	VPS13C_ENST00000395898.3_Missense_Mutation_p.I31S|RP11-643M14.1_ENST00000558368.2_RNA|VPS13C_ENST00000395896.4_Missense_Mutation_p.I31S|RP11-643M14.1_ENST00000560813.2_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.I31S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCGCCCCAGATGCCCAGCTT	0.687																																					p.I31S		.											.	VPS13C	92	0			c.T92G						.						28.0	27.0	28.0					15																	62352482		2203	4300	6503	SO:0001583	missense	54832	exon1			CCCCAGATGCCCA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.92T>G	15.37:g.62352482A>C	ENSP00000261517:p.Ile31Ser	84.0	0.0		50.0	15.0	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159036	0.78226	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	M	0.84082	2.675	0.80722	D	1	P;P;P;P	0.48503	0.821;0.891;0.821;0.911	P;P;P;D	0.63793	0.697;0.867;0.697;0.918	D	0.92630	0.6115	10	0.87932	D	0	.	12.1476	0.54031	1.0:0.0:0.0:0.0	.	31;31;31;31	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	31	ENSP00000249837:I31S;ENSP00000261517:I31S;ENSP00000379233:I31S;ENSP00000379235:I31S	ENSP00000249837:I31S	I	-	2	0	VPS13C	60139774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.620000	0.67736	1.965000	0.57142	0.533000	0.62120	ATC	.		0.687	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
WDR82	80335	hgsc.bcm.edu;bcgsc.ca	37	3	52293863	52293863	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr3:52293863T>C	ENST00000296490.3	-	6	850	c.569A>G	c.(568-570)cAg>cGg	p.Q190R		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	190					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TCGATCATACTGCATCTTAAA	0.428																																					p.Q190R		.											.	WDR82	226	0			c.A569G						.						145.0	134.0	137.0					3																	52293863		1900	4122	6022	SO:0001583	missense	80335	exon6			TCATACTGCATCT	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.569A>G	3.37:g.52293863T>C	ENSP00000296490:p.Gln190Arg	47.0	0.0		35.0	5.0	NM_025222	A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380587	0.61845	.	.	ENSG00000164091	ENST00000296490	T	0.17854	2.25	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	L	0.55103	1.725	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06058	-1.0848	10	0.15952	T	0.53	-26.197	16.259	0.82532	0.0:0.0:0.0:1.0	.	190	Q6UXN9	WDR82_HUMAN	R	190	ENSP00000296490:Q190R	ENSP00000296490:Q190R	Q	-	2	0	WDR82	52268903	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.831000	0.86748	2.245000	0.73994	0.482000	0.46254	CAG	.		0.428	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222	
ZBTB8B	728116	hgsc.bcm.edu;bcgsc.ca	37	1	32950817	32950817	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:32950817A>G	ENST00000609129.1	+	4	1364	c.1286A>G	c.(1285-1287)gAc>gGc	p.D429G	RP1-27O5.3_ENST00000480336.1_Missense_Mutation_p.D429G	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)	1						TGCGTTACAGACACACCCGAT	0.542																																					p.D429G		.											.	.	.	0			c.A1286G						.						75.0	62.0	66.0					1																	32950817		692	1591	2283	SO:0001583	missense	728116	exon4			TTACAGACACACC	AL442095	CCDS44104.1	1p35.1	2013-01-08			ENSG00000215897	ENSG00000273274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	37057	protein-coding gene	gene with protein product							Standard	NM_001145720		Approved	RP1-27O5.1, DKFZp547H154, ZNF916B	uc001bvl.4	Q8NAP8	OTTHUMG00000167087	ENST00000609129.1:c.1286A>G	1.37:g.32950817A>G	ENSP00000476499:p.Asp429Gly	104.0	0.0		78.0	5.0	NM_001145720	Q15DG5|Q5VXR5|Q69YT7	Missense_Mutation	SNP	ENST00000609129.1	37	CCDS44104.1	.	.	.	.	.	.	.	.	.	.	A	8.081	0.772315	0.16051	.	.	ENSG00000215897	ENST00000415091	T	0.11930	2.73	5.08	2.55	0.30701	.	0.146593	0.64402	D	0.000020	T	0.07098	0.0180	N	0.24115	0.695	0.32741	N	0.507727	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	10	0.11794	T	0.64	.	6.3262	0.21244	0.606:0.3021:0.0919:0.0	.	429	Q8NAP8	ZBT8B_HUMAN	G	429	ENSP00000400836:D429G	ENSP00000435749:D429G	D	+	2	0	ZBTB8B	32723404	0.998000	0.40836	0.566000	0.28421	0.575000	0.36095	3.888000	0.56204	1.015000	0.39444	0.533000	0.62120	GAC	.		0.542	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392986.2	NM_001145720	
ZFAT	57623	hgsc.bcm.edu;bcgsc.ca	37	8	135545138	135545138	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:135545138A>G	ENST00000377838.3	-	12	3228	c.3054T>C	c.(3052-3054)ccT>ccC	p.P1018P	ZFAT_ENST00000520727.1_Silent_p.P1006P|ZFAT_ENST00000520214.1_Silent_p.P1006P|ZFAT_ENST00000429442.2_Silent_p.P1006P|ZFAT_ENST00000520356.1_Silent_p.P1006P|ZFAT_ENST00000523399.1_Silent_p.P956P|ZFAT_ENST00000517307.1_5'UTR	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1018					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACTCCTCATTAGGGTGCTTCC	0.622																																					p.P1018P		.											.	ZFAT	90	0			c.T3054C						.						55.0	56.0	56.0					8																	135545138		2039	4166	6205	SO:0001819	synonymous_variant	57623	exon12			CTCATTAGGGTGC	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3054T>C	8.37:g.135545138A>G		80.0	0.0		59.0	4.0	NM_020863	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	CCDS47924.1																																																																																			.		0.622	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
ZMYM4	9202	hgsc.bcm.edu;bcgsc.ca	37	1	35846860	35846860	+	Splice_Site	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:35846860A>G	ENST00000314607.6	+	8	1262	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K	ZMYM4_ENST00000373297.2_Splice_Site_p.K394K	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	394					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTATTTTTAGAGACATTTTAA	0.308																																					p.K394K		.											.	ZMYM4	291	0			c.A1182G						.						68.0	75.0	72.0					1																	35846860		2197	4296	6493	SO:0001630	splice_region_variant	9202	exon8			TTTTAGAGACATT	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1182-1A>G	1.37:g.35846860A>G		89.0	0.0		82.0	4.0	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703972	0.30232	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.39	3.05	0.35203	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49588	-0.8924	4	.	.	.	.	8.0777	0.30726	0.7517:0.0:0.2483:0.0	.	.	.	.	G	143	.	.	R	+	1	2	ZMYM4	35619447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.402000	0.34600	0.347000	0.23924	0.482000	0.46254	AGA	.		0.308	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	Silent
ZNF165	7718	hgsc.bcm.edu;bcgsc.ca	37	6	28057118	28057118	+	Missense_Mutation	SNP	T	T	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:28057118T>A	ENST00000377325.1	+	4	1884	c.1328T>A	c.(1327-1329)cTt>cAt	p.L443H	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	443					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)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTCACATCTTATTCGACAC	0.443																																					p.L443H		.											.	ZNF165	90	0			c.T1328A						.						60.0	61.0	60.0					6																	28057118		2203	4300	6503	SO:0001583	missense	7718	exon4			CACATCTTATTCG	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1328T>A	6.37:g.28057118T>A	ENSP00000366542:p.Leu443His	139.0	0.0		89.0	4.0	NM_003447		Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364649	0.41902	.	.	ENSG00000197279	ENST00000377325	T	0.54071	0.59	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73753	0.3627	H	0.97465	4.01	0.28928	N	0.89175	D	0.89917	1.0	D	0.97110	1.0	T	0.67673	-0.5610	9	0.87932	D	0	.	10.0209	0.42041	0.0:0.0:0.0:1.0	.	443	P49910	ZN165_HUMAN	H	443	ENSP00000366542:L443H	ENSP00000366542:L443H	L	+	2	0	ZNF165	28165097	0.890000	0.30428	0.937000	0.37676	0.203000	0.24098	6.745000	0.74860	1.268000	0.44264	0.477000	0.44152	CTT	.		0.443	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447	
ZNF177	7730	hgsc.bcm.edu;bcgsc.ca	37	19	9491942	9491942	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:9491942A>G	ENST00000589262.1	+	6	1001	c.935A>G	c.(934-936)tAt>tGt	p.Y312C	ZNF177_ENST00000343499.4_Missense_Mutation_p.Y152C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000434737.2_Missense_Mutation_p.Y312C|ZNF177_ENST00000541595.2_Missense_Mutation_p.Y152C|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.Y152C	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	312					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAGAAGCCTTATGAGTGTGAT	0.433																																					p.Y312C		.											.	ZNF177	91	0			c.A935G						.						100.0	93.0	95.0					19																	9491942		2203	4300	6503	SO:0001583	missense	7730	exon6			AGCCTTATGAGTG	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.935A>G	19.37:g.9491942A>G	ENSP00000468531:p.Tyr312Cys	165.0	0.0		91.0	4.0	NM_001172651	B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469232	0.26423	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.25414	1.8;1.8;1.8	2.64	0.345	0.16011	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44953	0.1318	M	0.79614	2.46	0.26986	N	0.965257	D;D	0.76494	0.999;0.999	D;D	0.70487	0.926;0.969	T	0.53690	-0.8403	8	0.87932	D	0	.	6.4667	0.21985	0.3798:0.0:0.0:0.6202	.	312;152	B4DY57;Q13360	.;ZN177_HUMAN	C	152;152;312	ENSP00000445323:Y152C;ENSP00000341497:Y152C;ENSP00000415070:Y312C	ENSP00000341497:Y152C	Y	+	2	0	ZNF177	9352942	0.000000	0.05858	0.043000	0.18650	0.873000	0.50193	0.001000	0.13038	0.001000	0.14605	-0.490000	0.04691	TAT	.		0.433	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451	
ZNF208	7757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	22157552	22157552	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:22157552A>G	ENST00000397126.4	-	4	432	c.284T>C	c.(283-285)tTc>tCc	p.F95S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Missense_Mutation_p.F95S	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACTTTTTGGAAAGAATCTTC	0.328																																					p.F95S		.											.	ZNF208	7	0			c.T284C						.						41.0	40.0	40.0					19																	22157552		2042	4240	6282	SO:0001583	missense	7757	exon4			TTTTGGAAAGAAT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.284T>C	19.37:g.22157552A>G	ENSP00000380315:p.Phe95Ser	198.0	0.0		123.0	6.0	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	9.324	1.058833	0.19987	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07444	3.19	0.77	0.77	0.18497	.	.	.	.	.	T	0.10766	0.0263	.	.	.	0.09310	N	1	D;P	0.71674	0.998;0.729	P;B	0.59115	0.852;0.439	T	0.29458	-1.0011	8	0.16420	T	0.52	.	3.9499	0.09364	1.0:0.0:0.0:0.0	.	95;95	O43345;F8WEA0	ZN208_HUMAN;.	S	95	ENSP00000380315:F95S	ENSP00000380315:F95S	F	-	2	0	ZNF208	21949392	0.000000	0.05858	0.018000	0.16275	0.530000	0.34684	0.035000	0.13797	0.647000	0.30713	0.246000	0.17985	TTC	.		0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF227	7770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	44739253	44739253	+	Missense_Mutation	SNP	A	A	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:44739253A>C	ENST00000313040.7	+	6	875	c.670A>C	c.(670-672)Aaa>Caa	p.K224Q	ZNF227_ENST00000391961.2_Missense_Mutation_p.K173Q|ZNF227_ENST00000589005.1_Missense_Mutation_p.K173Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	224					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CACAGAACCAAAACCCTGCAA	0.378																																					p.K224Q		.											.	ZNF227	91	0			c.A670C						.						62.0	62.0	62.0					19																	44739253		2203	4300	6503	SO:0001583	missense	7770	exon6			GAACCAAAACCCT	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.670A>C	19.37:g.44739253A>C	ENSP00000321049:p.Lys224Gln	122.0	0.0		81.0	24.0	NM_182490	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303731	0.23736	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.02103	4.45;4.45	4.27	3.24	0.37175	.	.	.	.	.	T	0.04634	0.0126	M	0.81614	2.55	0.09310	N	0.999998	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.21143	-1.0254	9	0.66056	D	0.02	.	7.7259	0.28759	0.7438:0.2562:0.0:0.0	.	145;203;176;224	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	Q	224;181;173;203	ENSP00000321049:K224Q;ENSP00000375823:K173Q	ENSP00000321049:K224Q	K	+	1	0	ZNF227	49431093	0.001000	0.12720	0.130000	0.21974	0.042000	0.13812	0.751000	0.26348	0.814000	0.34374	0.460000	0.39030	AAA	.		0.378	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
ZNF292	23036	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	87955340	87955340	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr6:87955340T>C	ENST00000369577.3	+	7	1041	c.998T>C	c.(997-999)cTg>cCg	p.L333P	ZNF292_ENST00000339907.4_Missense_Mutation_p.L328P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	333						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATTTTCTTCCTGATTAAAGTT	0.269																																					p.L333P		.											.	ZNF292	72	0			c.T998C						.						49.0	49.0	49.0					6																	87955340		1793	4054	5847	SO:0001583	missense	23036	exon7			TCTTCCTGATTAA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.998T>C	6.37:g.87955340T>C	ENSP00000358590:p.Leu333Pro	276.0	2.0		200.0	46.0	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429691	0.83776	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.41400	1.0;1.0	5.64	5.64	0.86602	.	0.064020	0.64402	D	0.000004	T	0.56630	0.1998	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61907	-0.6966	10	0.87932	D	0	.	16.1405	0.81519	0.0:0.0:0.0:1.0	.	333	O60281	ZN292_HUMAN	P	333;328	ENSP00000358590:L333P;ENSP00000342847:L328P	ENSP00000342847:L328P	L	+	2	0	ZNF292	88012059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.990000	0.88215	2.264000	0.75181	0.528000	0.53228	CTG	.		0.269	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF365	22891	hgsc.bcm.edu;bcgsc.ca	37	10	64415380	64415380	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr10:64415380T>C	ENST00000395251.1	+	4	714	c.380T>C	c.(379-381)gTt>gCt	p.V127A	ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	127										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TATGCAGGAGTTTCAATTCAA	0.498																																					p.V127A		.											.	ZNF365	92	0			c.T380C						.						75.0	68.0	71.0					10																	64415380		2203	4300	6503	SO:0001583	missense	22891	exon4			CAGGAGTTTCAAT	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.380T>C	10.37:g.64415380T>C	ENSP00000378672:p.Val127Ala	42.0	0.0		34.0	4.0	NM_199452		Missense_Mutation	SNP	ENST00000395251.1	37	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874394	0.33069	.	.	ENSG00000138311	ENST00000395251	T	0.54866	0.55	5.49	4.36	0.52297	.	.	.	.	.	T	0.32704	0.0838	N	0.08118	0	0.80722	D	1	P	0.41393	0.748	B	0.42555	0.391	T	0.10753	-1.0616	9	0.40728	T	0.16	.	7.4638	0.27310	0.0:0.0996:0.0:0.9004	.	127	Q70YC4	TALAN_HUMAN	A	127	ENSP00000378672:V127A	ENSP00000378672:V127A	V	+	2	0	ZNF365	64085386	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.221000	0.42917	0.919000	0.36945	0.482000	0.46254	GTT	.		0.498	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951	
ZNF558	148156	hgsc.bcm.edu;bcgsc.ca	37	19	8922642	8922642	+	Missense_Mutation	SNP	G	G	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:8922642G>C	ENST00000601372.1	-	10	1235	c.524C>G	c.(523-525)aCt>aGt	p.T175S	ZNF558_ENST00000301475.1_Missense_Mutation_p.T175S|ZNF558_ENST00000444186.2_Missense_Mutation_p.T104S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTTTTCTCCAGTATGAATTCT	0.388																																					p.T175S		.											.	ZNF558	90	0			c.C524G						.						55.0	53.0	54.0					19																	8922642		2203	4300	6503	SO:0001583	missense	148156	exon6			TCTCCAGTATGAA	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.524C>G	19.37:g.8922642G>C	ENSP00000471277:p.Thr175Ser	134.0	0.0		79.0	4.0	NM_144693	A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927872	0.73327	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.24151	1.87;1.87	4.77	4.77	0.60923	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000641	T	0.27313	0.0670	L	0.31065	0.9	0.34944	D	0.750559	B	0.26744	0.158	B	0.38655	0.278	T	0.41324	-0.9515	10	0.56958	D	0.05	-12.2029	15.3356	0.74250	0.0:0.0:1.0:0.0	.	175	Q96NG5	ZN558_HUMAN	S	175;104	ENSP00000301475:T175S;ENSP00000410703:T104S	ENSP00000301475:T175S	T	-	2	0	ZNF558	8783642	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.834000	0.62774	2.485000	0.83878	0.591000	0.81541	ACT	.		0.388	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693	
ZNF611	81856	hgsc.bcm.edu;bcgsc.ca	37	19	53208496	53208496	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53208496A>G	ENST00000319783.1	-	7	2128	c.1812T>C	c.(1810-1812)agT>agC	p.S604S	ZNF611_ENST00000595798.1_Silent_p.S535S|ZNF611_ENST00000543227.1_Silent_p.S604S|ZNF611_ENST00000602162.1_Silent_p.S535S|ZNF611_ENST00000540744.1_Silent_p.S604S|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000453741.2_Silent_p.S535S	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	604					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(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ATGACCTGCGACTGAAGGTCT	0.458																																					p.S604S		.											.	ZNF611	91	0			c.T1812C						.						249.0	226.0	234.0					19																	53208496		2203	4300	6503	SO:0001819	synonymous_variant	81856	exon7			CCTGCGACTGAAG	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1812T>C	19.37:g.53208496A>G		145.0	0.0		88.0	4.0	NM_030972	B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	CCDS12855.1																																																																																			.		0.458	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF418	147686	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	58438372	58438372	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:58438372T>C	ENST00000396147.1	-	4	1468	c.1177A>G	c.(1177-1179)Act>Gct	p.T393A	ZNF418_ENST00000595830.1_Missense_Mutation_p.T393A|ZNF418_ENST00000599852.1_Missense_Mutation_p.T308A|ZNF418_ENST00000425570.3_Missense_Mutation_p.T414A|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CGTTCTCTAGTGTGAACTCGA	0.433																																					p.T393A		.											.	ZNF418	90	0			c.A1177G						.						145.0	148.0	147.0					19																	58438372		2194	4295	6489	SO:0001583	missense	147686	exon4			CTCTAGTGTGAAC	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1177A>G	19.37:g.58438372T>C	ENSP00000379451:p.Thr393Ala	155.0	0.0		103.0	8.0	NM_133460	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.161337	0.57368	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.35605	1.3;1.3	2.26	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49525	0.1562	M	0.70108	2.13	0.25789	N	0.984646	P	0.36660	0.564	P	0.50109	0.631	T	0.45366	-0.9266	9	0.66056	D	0.02	.	9.2268	0.37412	0.0:0.0:0.0:1.0	.	393	Q8TF45	ZN418_HUMAN	A	393;414;359	ENSP00000379451:T393A;ENSP00000407039:T414A	ENSP00000379451:T393A	T	-	1	0	ZNF418	63130184	1.000000	0.71417	0.005000	0.12908	0.662000	0.39071	3.915000	0.56409	1.051000	0.40369	0.234000	0.17832	ACT	.		0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ZNF664	144348	hgsc.bcm.edu;bcgsc.ca	37	12	124497322	124497322	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr12:124497322A>G	ENST00000539644.1	+	6	2461	c.631A>G	c.(631-633)Agt>Ggt	p.S211G	ZNF664_ENST00000538932.2_Missense_Mutation_p.S211G|ZNF664_ENST00000392404.3_Missense_Mutation_p.S211G|ZNF664_ENST00000337815.4_Missense_Mutation_p.S211G|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CTTCAGTCAGAGTTCGAGCCT	0.522																																					p.S211G		.											.	ZNF664	90	0			c.A631G						.						98.0	97.0	97.0					12																	124497322		2203	4300	6503	SO:0001583	missense	144348	exon5			AGTCAGAGTTCGA		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.631A>G	12.37:g.124497322A>G	ENSP00000441405:p.Ser211Gly	95.0	0.0		60.0	4.0	NM_152437	B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159304	0.38119	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000202	T	0.11067	0.0270	M	0.76328	2.33	0.27776	N	0.943303	B	0.33904	0.431	B	0.32289	0.143	T	0.10613	-1.0622	10	0.54805	T	0.06	-34.962	8.1013	0.30859	0.7949:0.2051:0.0:0.0	.	211	Q8N3J9	ZN664_HUMAN	G	211;211;211;211;149	ENSP00000441405:S211G;ENSP00000376205:S211G;ENSP00000440645:S211G;ENSP00000337320:S211G	ENSP00000337320:S211G	S	+	1	0	ZNF664	123063275	0.806000	0.28996	1.000000	0.80357	0.988000	0.76386	3.101000	0.50283	2.142000	0.66516	0.533000	0.62120	AGT	.		0.522	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437	
ZNF665	79788	hgsc.bcm.edu;bcgsc.ca	37	19	53667902	53667902	+	Missense_Mutation	SNP	G	G	A			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53667902G>A	ENST00000600412.1	-	2	1761	c.1646C>T	c.(1645-1647)gCa>gTa	p.A549V	ZNF665_ENST00000396424.3_Missense_Mutation_p.A614V|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	549					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(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTATGATTTGCAAGATGTGA	0.403																																					p.A614V		.											.	ZNF665	70	0			c.C1841T						.						106.0	111.0	110.0					19																	53667902		2203	4300	6503	SO:0001583	missense	79788	exon4			TGATTTGCAAGAT		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1646C>T	19.37:g.53667902G>A	ENSP00000469154:p.Ala549Val	139.0	0.0		98.0	6.0	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	G	6.014	0.370892	0.11409	.	.	ENSG00000197497	ENST00000396424	T	0.36520	1.25	2.55	-3.83	0.04269	.	.	.	.	.	T	0.17365	0.0417	N	0.16903	0.455	0.09310	N	1	B	0.29671	0.254	B	0.32022	0.139	T	0.25222	-1.0138	9	0.25751	T	0.34	.	3.5311	0.07777	0.229:0.0:0.3005:0.4706	.	614	Q9H7R5-2	.	V	614	ENSP00000379702:A614V	ENSP00000379702:A614V	A	-	2	0	ZNF665	58359714	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-6.420000	0.00066	-0.912000	0.03837	-0.399000	0.06403	GCA	.		0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF688	146542	hgsc.bcm.edu;bcgsc.ca	37	16	30582420	30582420	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr16:30582420A>G	ENST00000223459.6	-	2	1325	c.221T>C	c.(220-222)cTc>cCc	p.L74P	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000563707.1_Intron|AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.L60P|ZNF688_ENST00000567855.1_Missense_Mutation_p.L74P	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCAAGAGATGAGGGCTGGTTT	0.627																																					p.L74P		.											.	ZNF688	68	0			c.T221C						.						35.0	37.0	36.0					16																	30582420		2197	4300	6497	SO:0001583	missense	146542	exon2			GAGATGAGGGCTG	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.221T>C	16.37:g.30582420A>G	ENSP00000223459:p.Leu74Pro	94.0	0.0		64.0	4.0	NM_145271	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333769	0.81801	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.05447	3.44;5.48	5.2	5.2	0.72013	Krueppel-associated box (3);	.	.	.	.	T	0.22589	0.0545	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00202	-1.1925	9	0.87932	D	0	.	11.636	0.51204	1.0:0.0:0.0:0.0	.	74;60	P0C7X2;A8MV39	ZN688_HUMAN;.	P	60;74	ENSP00000378645:L60P;ENSP00000223459:L74P	ENSP00000223459:L74P	L	-	2	0	ZNF688	30489921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.527000	0.60573	2.308000	0.77769	0.533000	0.62120	CTC	.		0.627	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271	
ZNF707	286075	hgsc.bcm.edu;bcgsc.ca	37	8	144773301	144773301	+	Missense_Mutation	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr8:144773301T>C	ENST00000532205.1	+	6	973	c.74T>C	c.(73-75)cTg>cCg	p.L25P	ZNF707_ENST00000532158.1_Missense_Mutation_p.L25P|ZNF707_ENST00000442058.2_Missense_Mutation_p.L25P|ZNF707_ENST00000418203.2_Missense_Mutation_p.L25P|ZNF707_ENST00000358656.4_Missense_Mutation_p.L25P|ZNF707_ENST00000454097.1_Missense_Mutation_p.L25P			Q96C28	ZN707_HUMAN	zinc finger protein 707	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGGCGTGTCTGGAACCCAGC	0.607																																					p.L25P		.											.	ZNF707	67	0			c.T74C						.						57.0	65.0	62.0					8																	144773301		2203	4300	6503	SO:0001583	missense	286075	exon4			CGTGTCTGGAACC	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.74T>C	8.37:g.144773301T>C	ENSP00000436212:p.Leu25Pro	160.0	0.0		143.0	7.0	NM_001100598	A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	T	9.745	1.165852	0.21538	.	.	ENSG00000181135	ENST00000454097;ENST00000534303;ENST00000529833;ENST00000530574;ENST00000358656;ENST00000526970;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	2.46	1.25	0.21368	Krueppel-associated box (4);	.	.	.	.	T	0.51007	0.1649	H	0.94964	3.605	0.19300	N	0.999974	D	0.76494	0.999	D	0.74674	0.984	T	0.35574	-0.9783	9	0.87932	D	0	-22.3826	5.6653	0.17693	0.0:0.1493:0.0:0.8507	.	25	Q96C28	ZN707_HUMAN	P	25	ENSP00000409029:L25P;ENSP00000437134:L25P;ENSP00000434503:L25P;ENSP00000436362:L25P;ENSP00000351482:L25P;ENSP00000436634:L25P;ENSP00000436250:L25P;ENSP00000436212:L25P;ENSP00000413215:L25P	ENSP00000351482:L25P	L	+	2	0	ZNF707	144845289	0.000000	0.05858	0.006000	0.13384	0.182000	0.23217	0.613000	0.24299	0.178000	0.19917	0.460000	0.39030	CTG	.		0.607	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831	
ZNF77	58492	hgsc.bcm.edu;bcgsc.ca	37	19	2933802	2933802	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:2933802A>G	ENST00000314531.4	-	4	1415	c.1323T>C	c.(1321-1323)tgT>tgC	p.C441C		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	441					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)		AGGCTTTCCCACAATGCTTAC	0.502																																					p.C441C		.											.	ZNF77	91	0			c.T1323C						.						90.0	78.0	82.0					19																	2933802		2203	4300	6503	SO:0001819	synonymous_variant	58492	exon4			TTTCCCACAATGC	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.1323T>C	19.37:g.2933802A>G		117.0	0.0		65.0	4.0	NM_021217	Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	CCDS12099.1																																																																																			.		0.502	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
ZNF790	388536	hgsc.bcm.edu;bcgsc.ca	37	19	37309733	37309733	+	Missense_Mutation	SNP	G	G	T			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:37309733G>T	ENST00000356725.4	-	5	1633	c.1513C>A	c.(1513-1515)Cca>Aca	p.P505T	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTCATATGGCCTCTTTCCA	0.398																																					p.P505T		.											.	ZNF790	92	0			c.C1513A						.						109.0	102.0	104.0					19																	37309733		2203	4300	6503	SO:0001583	missense	388536	exon5			CATATGGCCTCTT	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1513C>A	19.37:g.37309733G>T	ENSP00000349161:p.Pro505Thr	125.0	0.0		71.0	4.0	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808396	0.31961	.	.	ENSG00000197863	ENST00000356725	T	0.16897	2.31	3.04	-0.911	0.10507	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	M	0.82056	2.57	0.29696	N	0.840516	B	0.26041	0.14	B	0.34180	0.177	T	0.36311	-0.9753	9	0.87932	D	0	.	4.88	0.13674	0.1151:0.0:0.5212:0.3638	.	505	Q6PG37	ZN790_HUMAN	T	505	ENSP00000349161:P505T	ENSP00000349161:P505T	P	-	1	0	ZNF790	42001573	1.000000	0.71417	0.004000	0.12327	0.433000	0.31745	4.187000	0.58344	-0.218000	0.10018	-0.500000	0.04577	CCA	.		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF79	7633	hgsc.bcm.edu;bcgsc.ca	37	9	130206630	130206630	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr9:130206630A>G	ENST00000342483.5	+	5	1057	c.651A>G	c.(649-651)ggA>ggG	p.G217G	ZNF79_ENST00000543471.1_Silent_p.G193G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GCCACACTGGAGAGAAGCCCT	0.478																																					p.G217G		.											.	ZNF79	90	0			c.A651G						.						89.0	86.0	87.0					9																	130206630		2203	4300	6503	SO:0001819	synonymous_variant	7633	exon5			CACTGGAGAGAAG	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.651A>G	9.37:g.130206630A>G		109.0	0.0		66.0	4.0	NM_007135	Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	CCDS6871.1																																																																																			.		0.478	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135	
ZNF93	81931	ucsc.edu;bcgsc.ca	37	19	20045260	20045260	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:20045260A>G	ENST00000343769.5	+	4	1524	c.1496A>G	c.(1495-1497)cAt>cGt	p.H499R	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CTTACTAAACATAAGAAAATT	0.348																																					p.H499R		.											.	ZNF93	91	0			c.A1496G						.						41.0	45.0	44.0					19																	20045260		2152	4243	6395	SO:0001583	missense	81931	exon4			CTAAACATAAGAA	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1496A>G	19.37:g.20045260A>G	ENSP00000342002:p.His499Arg	36.0	0.0		32.0	4.0	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	11.88	1.769338	0.31320	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	D	0.86865	-2.18	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93284	0.7860	H	0.97023	3.925	0.23162	N	0.998194	D	0.54397	0.966	P	0.57152	0.814	D	0.84792	0.0779	9	0.87932	D	0	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	499	P35789	ZNF93_HUMAN	R	499;471	ENSP00000342002:H499R	ENSP00000342002:H499R	H	+	2	0	ZNF93	19906260	0.979000	0.34478	0.085000	0.20634	0.084000	0.17831	3.607000	0.54102	0.166000	0.19597	0.164000	0.16699	CAT	.		0.348	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218	
ZNF90	7643	hgsc.bcm.edu;bcgsc.ca	37	19	20229869	20229869	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:20229869T>C	ENST00000418063.2	+	4	1618	c.1506T>C	c.(1504-1506)atT>atC	p.I502I	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	502					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I502I(1)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ATAAGATAATTCACAGTGGAG	0.398																																					p.I502I		.											.	ZNF90	48	1	Substitution - coding silent(1)	endometrium(1)	c.T1506C						.						61.0	58.0	59.0					19																	20229869		692	1591	2283	SO:0001819	synonymous_variant	7643	exon4			GATAATTCACAGT	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1506T>C	19.37:g.20229869T>C		74.0	0.0		56.0	4.0	NM_007138	B9EH87	Silent	SNP	ENST00000418063.2	37	CCDS46028.1																																																																																			.		0.398	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138	
ZNF845	91664	hgsc.bcm.edu;bcgsc.ca	37	19	53855322	53855322	+	Missense_Mutation	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr19:53855322A>G	ENST00000595091.1	+	5	1613	c.1394A>G	c.(1393-1395)aAa>aGa	p.K465R	ZNF845_ENST00000458035.1_Missense_Mutation_p.K465R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACTGGAGAGAAACCTTACAAG	0.383																																					p.K465R		.											.	.	.	0			c.A1394G						.						27.0	26.0	26.0					19																	53855322		692	1590	2282	SO:0001583	missense	91664	exon4			GAGAGAAACCTTA	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1394A>G	19.37:g.53855322A>G	ENSP00000470005:p.Lys465Arg	120.0	0.0		68.0	4.0	NM_138374		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650087	0.47362	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.24908	1.83	2.08	2.08	0.27032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27866	0.0686	N	0.11698	0.16	0.22317	N	0.999202	P	0.49961	0.93	D	0.66196	0.942	T	0.13548	-1.0505	9	0.40728	T	0.16	.	8.8735	0.35332	1.0:0.0:0.0:0.0	.	465	Q96IR2	ZN845_HUMAN	R	465	ENSP00000388311:K465R	ENSP00000412086:K465R	K	+	2	0	ZNF845	58547134	0.154000	0.22792	0.015000	0.15790	0.041000	0.13682	0.683000	0.25349	0.942000	0.37525	0.338000	0.21704	AAA	.		0.383	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
ZSCAN20	7579	hgsc.bcm.edu;bcgsc.ca	37	1	33955141	33955141	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr1:33955141T>C	ENST00000361328.3	+	5	858	c.705T>C	c.(703-705)caT>caC	p.H235H	ZSCAN20_ENST00000373413.2_Intron	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	235					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTGGCAAACATGCTGAGAAGG	0.562																																					p.H235H		.											.	ZSCAN20	93	0			c.T705C						.						56.0	59.0	58.0					1																	33955141		1907	4122	6029	SO:0001819	synonymous_variant	7579	exon5			CAAACATGCTGAG	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.705T>C	1.37:g.33955141T>C		82.0	0.0		58.0	4.0	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	CCDS41300.1																																																																																			.		0.562	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
ZSWIM6	57688	hgsc.bcm.edu;bcgsc.ca	37	5	60835544	60835544	+	Silent	SNP	A	A	G			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:60835544A>G	ENST00000252744.5	+	12	2661	c.2661A>G	c.(2659-2661)ccA>ccG	p.P887P		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	887					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						ACAGTTTGCCAGACATCACTC	0.433																																					p.P887P		.											.	.	.	0			c.A2661G						.						146.0	115.0	124.0					5																	60835544		692	1591	2283	SO:0001819	synonymous_variant	57688	exon12			TTTGCCAGACATC	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.2661A>G	5.37:g.60835544A>G		139.0	0.0		98.0	5.0	NM_020928		Silent	SNP	ENST00000252744.5	37	CCDS47215.1																																																																																			.		0.433	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928	
ZSWIM6	57688	hgsc.bcm.edu;bcgsc.ca	37	5	60839556	60839556	+	Silent	SNP	T	T	C			TCGA-ES-A2HT-01A-12D-A183-10	TCGA-ES-A2HT-11A-11D-A183-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	d6ccfd6f-2ea9-499d-a25d-4ba9d4a9258e	1a9dd052-17c3-4a9d-a566-ad9f88b85428	g.chr5:60839556T>C	ENST00000252744.5	+	14	3060	c.3060T>C	c.(3058-3060)gcT>gcC	p.A1020A		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	1020					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						TTCTCGACGCTGCTACGACTG	0.537																																					p.A1020A		.											.	.	.	0			c.T3060C						.						46.0	43.0	44.0					5																	60839556		692	1591	2283	SO:0001819	synonymous_variant	57688	exon14			CGACGCTGCTACG	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.3060T>C	5.37:g.60839556T>C		70.0	0.0		60.0	4.0	NM_020928		Silent	SNP	ENST00000252744.5	37	CCDS47215.1																																																																																			.		0.537	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928	
