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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
NUFIP2	57532	broad.mit.edu	hg19	17	27620994	27620994	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr17:27620994C>G	ENST00000225388.4	-	1	142	c.84G>C	c.(82-84)caG>caC	p.Q28H	NUFIP2_ENST00000579665.1_Missense_Mutation_p.Q28H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	28	His-rich.		nucleus|polysomal ribosome	protein binding|RNA binding	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		ggtgcggctgctgctgctgct	0.587	0	55.0	58.0	57.0	17	27620994	2203	4299	6502	SO:0001583	missense	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256		17634	protein-coding gene	gene with protein product		609356			12837692, 16407062	Standard	NM_020772	Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.84G>C	17.37:g.27620994C>G	ENSP00000225388:p.Gln28His	A1L3A6|Q9P2M5	ENST00000225388.4	37	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859938	0.32884	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.34	2.22	0.28083	.	0.498628	0.17130	N	0.185844	T	0.23532	0.0569	N	0.08118	0	0.33716	D	0.616401	P;P	0.41041	0.553;0.736	B;B	0.41088	0.347;0.146	T	0.35226	-0.9797	9	0.87932	D	0	1.8404	7.7976	0.29156	0.0:0.7268:0.0:0.2732	.	28;28	Q7Z417;A1L3A6	NUFP2_HUMAN;.	H	28	.	ENSP00000225388:Q28H	Q	-	3	2	NUFIP2	24645120	0.854000	0.29725	1.000000	0.80357	0.983000	0.72400	-0.127000	0.10547	0.628000	0.30357	0.467000	0.42956	CAG	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2		-3.718739	0	-20	39	0	0	1	0	NM_020772	3	6.678647	48	0.058824
ZSCAN16	80345	broad.mit.edu	hg19	6	28097340	28097340	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:28097340T>C	ENST00000340487.4	+	4	808	c.659T>C	c.(658-660)aTt>aCt	p.I220T	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	220		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					AAAGATATTATTGAAAATGAG	0.393	0	105.0	113.0	111.0	6	28097340	2203	4300	6503	SO:0001583	missense	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812	"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435		Standard	NM_025231	Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.659T>C	6.37:g.28097340T>C	ENSP00000366527:p.Ile220Thr	Q9H6K2	ENST00000340487.4	37	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	T	5.519	0.280633	0.10458	.	.	ENSG00000196812	ENST00000340487	T	0.05139	3.49	4.47	-7.48	0.01360	.	3.303230	0.01195	N	0.007427	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44345	-0.9334	10	0.20046	T	0.44	.	2.683	0.05100	0.2441:0.4299:0.1243:0.2017	.	220	Q9H4T2	ZSC16_HUMAN	T	220	ENSP00000366527:I220T	ENSP00000366527:I220T	I	+	2	0	ZSCAN16	28205319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.713000	0.00816	-1.112000	0.02984	0.443000	0.29094	ATT	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1		189.142633	0	-18	43	0	0	1	0	NM_025231	55	189.821893	38	0.591398
BNC1	646	broad.mit.edu	hg19	15	83936923	83936923	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:83936923C>T	ENST00000345382.2	-	2	246	c.161G>A	c.(160-162)cGt>cAt	p.R54H	BNC1_ENST00000569704.1_Missense_Mutation_p.R47H|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	54		epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56					GTCACACTGACGGTGGTTTAT	0.438	0	124.0	122.0	122.0	15	83936923	2203	4300	6503	SO:0001583	missense	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594	"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC	1332044	Standard	NM_001717	Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000569704.1:c.140G>A	15.37:g.83936923C>T	ENSP00000456727:p.Arg47His	Q15840	ENST00000569704.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.407197	0.96051	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.04809	3.55	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00161	-1.1972	10	0.87932	D	0	-21.1094	18.8361	0.92164	0.0:1.0:0.0:0.0	.	47;54	F5GY04;Q01954	.;BNC1_HUMAN	H	54;47	ENSP00000307041:R54H	ENSP00000307041:R54H	R	-	2	0	BNC1	81727927	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.380000	0.79704	2.670000	0.90874	0.591000	0.81541	CGT	BNC1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000420010.1		101.602007	0	5	69	0	0	1	0	NM_001717	32	101.605506	31	0.507937
PPARA	5465	broad.mit.edu	hg19	22	46615723	46615723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr22:46615723C>T	ENST00000396000.2	+	6	788	c.523C>T	c.(523-525)Cga>Tga	p.R175*	PPARA_ENST00000262735.5_Nonsense_Mutation_p.R175*|PPARA_ENST00000407236.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Nonsense_Mutation_p.R175*			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	175		fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	TCGTTTTGGACGAATGCCAAG	0.498	0	74.0	70.0	71.0	22	46615723	2203	4300	6503	SO:0001587	stop_gained	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951	"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR	7684926, 10591208	Standard	XM_005261655	Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.523C>T	22.37:g.46615723C>T	ENSP00000379322:p.Arg175*	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	ENST00000396000.2	37	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962509	0.92791	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126	.	.	.	5.51	2.0	0.26442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8549	0.63519	0.527:0.4729:0.0:0.0	.	.	.	.	X	175	.	ENSP00000262735:R175X	R	+	1	2	PPARA	44994387	0.866000	0.29940	0.999000	0.59377	0.551000	0.35334	1.285000	0.33261	0.622000	0.30249	0.555000	0.69702	CGA	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3		21.016806	0	-13	57	0	0	1	0	NM_001001928	10	26.461772	46	0.178571
SVEP1	79987	broad.mit.edu	hg19	9	113265410	113265410	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr9:113265410A>G	ENST00000401783.2	-	6	1727	c.1391T>C	c.(1390-1392)gTt>gCt	p.V464A	SVEP1_ENST00000374461.1_Missense_Mutation_p.V441A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.V464A|SVEP1_ENST00000374469.1_Missense_Mutation_p.V441A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	464	Sushi 2.	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	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					ATCACAGGCAACCAAACATGT	0.458	0	162.0	160.0	161.0	9	113265410	1980	4156	6136	SO:0001583	missense	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	ENST00000374469.1:c.1322T>C	9.37:g.113265410A>G	ENSP00000363593:p.Val441Ala	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	ENST00000374469.1	37		.	.	.	.	.	.	.	.	.	.	A	11.26	1.585590	0.28268	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.125819	0.53938	D	0.000060	T	0.58206	0.2106	M	0.73319	2.225	0.34205	D	0.673659	B;B;B	0.32409	0.37;0.053;0.319	B;B;B	0.30316	0.114;0.029;0.069	T	0.68006	-0.5523	10	0.31617	T	0.26	.	10.3411	0.43879	0.9271:0.0:0.0729:0.0	.	464;464;464	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	A	464;441;464;441	ENSP00000384917:V464A;ENSP00000363593:V441A;ENSP00000304118:V464A;ENSP00000363585:V441A	ENSP00000304118:V464A	V	-	2	0	SVEP1	112305231	1.000000	0.71417	0.583000	0.28640	0.202000	0.24057	3.282000	0.51693	2.171000	0.68590	0.533000	0.62120	GTT	SVEP1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000053622.1		138.948973	0	-28	61	0	0	1	0		42	138.971328	45	0.482759
MEGF8	1954	broad.mit.edu	hg19	19	42839498	42839498	+	Silent	SNP	C	C	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:42839498C>A	ENST00000334370.4	+	5	1424	c.789C>A	c.(787-789)tcC>tcA	p.S263S	MEGF8_ENST00000251268.6_Silent_p.S263S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	263			integral to membrane	calcium ion binding|structural molecule activity	breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)			ACAACTTCTCCGCCAACACCT	0.632	0	83.0	91.0	89.0	19	42839498	2010	4162	6172	SO:0001819	synonymous_variant	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429		3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49	9693030	Standard	NM_001410	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.789C>A	19.37:g.42839498C>A		A8KAY0|O75097	ENST00000334370.4	37	CCDS12604.2																																																																																			MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317695.1		-6.118857	1	-15	72	0	0.00909568	1	0.00909568	NM_001410	3	6.484327	56	0.050847
COQ2	27235	ucsc.edu	hg19	4	84193246	84193246	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1																										TCACCCAAGGCTAGTTGAGGC	0.358	0	60.0	56.0	57.0	4	84193246	1835	4084	5919	SO:0001583	missense		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23					25223	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""		15153069, 17332895	Standard	NM_015697	Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.772G>T	4.37:g.84193246C>A	ENSP00000310873:p.Ala258Ser	O95331|Q1JQ78|Q684R2	ENST00000311469.4	37	CCDS47090.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114113	0.37339	.	.	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	D;D;D	0.92199	-2.99;-2.99;-2.99	6.03	5.19	0.71726	.	0.232989	0.43747	D	0.000527	D	0.89846	0.6833	L	0.38175	1.15	0.31691	N	0.641841	B;B	0.33857	0.163;0.429	B;B	0.41510	0.334;0.359	D	0.91121	0.4930	10	0.72032	D	0.01	-15.5969	12.3835	0.55320	0.3051:0.6949:0.0:0.0	.	208;208	E2QRG7;Q96H96	.;COQ2_HUMAN	S	258;221;208	ENSP00000310873:A258S;ENSP00000409275:A221S;ENSP00000311835:A208S	ENSP00000311835:A208S	A	-	1	0	COQ2	84412270	1.000000	0.71417	0.560000	0.28344	0.242000	0.25591	1.962000	0.40442	1.543000	0.49345	0.655000	0.94253	GCC	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3				11	27					NM_015697	4		21	
SCARB1	949	broad.mit.edu	hg19	12	125298848	125298848	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:125298848C>T	ENST00000339570.5	-	4	726	c.530G>A	c.(529-531)gGt>gAt	p.G177D	SCARB1_ENST00000546215.1_Missense_Mutation_p.G177D|SCARB1_ENST00000415380.2_Missense_Mutation_p.G177D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G177D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G77D|SCARB1_ENST00000540495.1_Missense_Mutation_p.G140D|SCARB1_ENST00000541205.1_Missense_Mutation_p.G136D|SCARB1_ENST00000544327.1_Missense_Mutation_p.G123D|SCARB1_ENST00000535005.1_5'UTR	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	177		adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	CATGATCTCACCCACAGTGCG	0.522	0	159.0	133.0	142.0	12	125298848	2203	4300	6503	SO:0001583	missense	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060		1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1	7689561	Standard	NM_001082959	Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000261693.6:c.530G>A	12.37:g.125298848C>T	ENSP00000261693:p.Gly177Asp	F8W8N0|Q14016|Q52LZ5|Q6KFX4	ENST00000261693.6	37	CCDS9259.1	.	.	.	.	.	.	.	.	.	.	C	2.713	-0.268399	0.05716	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.25	2.32	0.28847	.	0.326617	0.36932	N	0.002321	T	0.62684	0.2448	L	0.53249	1.67	0.26757	N	0.970079	B;B;B;B;B;B	0.30563	0.089;0.026;0.285;0.285;0.146;0.088	B;B;B;B;B;B	0.38880	0.132;0.093;0.284;0.284;0.128;0.052	T	0.50004	-0.8878	10	0.09084	T	0.74	-16.9015	7.61	0.28124	0.0:0.4624:0.3998:0.1378	.	136;177;177;177;177;177	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	D	177;177;177;77;177;136;123;140	ENSP00000343795:G177D;ENSP00000414979:G177D;ENSP00000261693:G177D;ENSP00000365984:G77D;ENSP00000442862:G177D;ENSP00000446107:G136D;ENSP00000444851:G123D;ENSP00000443286:G140D	ENSP00000261693:G177D	G	-	2	0	SCARB1	123864801	0.025000	0.19082	0.009000	0.14445	0.035000	0.12851	1.869000	0.39519	0.189000	0.20188	-0.304000	0.09214	GGT	SCARB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400166.1		-2.674349	0	-18	34	0	0	1	0	NM_005505	5	10.303759	64	0.072464
RP11-1084J3.4	114899	ucsc.edu	hg19	5	34035760	34035760	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1																										ACCTGGAATGCCAGGAGGGCC	0.522	0	39.0	42.0	41.0	5	34035760	2203	4299	6502	SO:0001583	missense																									ENST00000382079.3:c.140G>A	5.37:g.34035760C>T	ENSP00000371511:p.Gly47Asp		ENST00000382079.3	37		.	.	.	.	.	.	.	.	.	.	C	31	5.096217	0.94197	.	.	ENSG00000082196	ENST00000382065;ENST00000231338	D;D	0.99353	-4.45;-5.77	5.91	5.91	0.95273	.	.	.	.	.	D	0.99632	0.9865	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98041	1.0382	9	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	136;63	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	D	136;63	ENSP00000371497:G136D;ENSP00000231338:G63D	ENSP00000231338:G63D	G	-	2	0	C1QTNF3	34071517	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.256000	0.65468	2.802000	0.96397	0.655000	0.94253	GGC	RP11-1084J3.4-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000472964.1				-7	35						4		32	
GAL3ST4	79690	broad.mit.edu	hg19	7	99758431	99758431	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:99758431C>T	ENST00000360039.4	-	4	973	c.581G>A	c.(580-582)gGc>gAc	p.G194D	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.G194D|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G132D	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	194		cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				CCTGTAGAAGCCTCGAGGATT	0.587	0	55.0	56.0	56.0	7	99758431	2203	4300	6503	SO:0001583	missense	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093	"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235			11333265	Standard	NM_024637	Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.581G>A	7.37:g.99758431C>T	ENSP00000353142:p.Gly194Asp	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	ENST00000360039.4	37	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.792|7.792	0.711872|0.711872	0.15306|0.15306	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|D;D;D	.|0.99698	.|-6.44;-6.44;-6.44	4.82|4.82	3.95|3.95	0.45737|0.45737	.|.	.|0.684008	.|0.13797	.|U	.|0.362088	D|D	0.97832|0.97832	0.9288|0.9288	N|N	0.08118|0.08118	0|0	0.23023|0.23023	N|N	0.998412|0.998412	.|P;B	.|0.43701	.|0.815;0.055	.|P;B	.|0.46049	.|0.502;0.055	D|D	0.97380|0.97380	0.9982|0.9982	6|10	0.87932|0.15952	D|T	0|0.53	-4.4769|-4.4769	8.2281|8.2281	0.31582|0.31582	0.0:0.1732:0.6491:0.1777|0.0:0.1732:0.6491:0.1777	.|.	.|132;194	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	T|D	93|194;194;132	.|ENSP00000400451:G194D;ENSP00000353142:G194D;ENSP00000398304:G132D	ENSP00000414733:A93T|ENSP00000353142:G194D	A|G	-|-	1|2	0|0	GAL3ST4|GAL3ST4	99596367|99596367	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.141000|0.141000	0.16076|0.16076	1.276000|1.276000	0.44395|0.44395	-0.299000|-0.299000	0.09455|0.09455	GCT|GGC	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2		77.442588	0	-10	53	0	0	1	0	NM_024637	29	79.710304	59	0.329545
ADAM22	53616	broad.mit.edu	hg19	7	87792407	87792407	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:87792407G>A	ENST00000398204.4	+	23	2311	c.1988G>A	c.(1987-1989)tGc>tAc	p.C663Y	ADAM22_ENST00000398209.3_Missense_Mutation_p.C663Y|ADAM22_ENST00000265727.7_Missense_Mutation_p.C663Y|ADAM22_ENST00000398201.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.C663Y	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	663	Cys-rich.	cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)		CAAATGATGTGCTTAGAACAC	0.428	0	183.0	165.0	171.0	7	87792407	1871	4109	5980	SO:0001583	missense	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277	"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""		9693107, 10524237	Standard	NM_021723	Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1988G>A	7.37:g.87792407G>A	ENSP00000265727:p.Cys663Tyr	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699096	0.88830	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.72505	2.63;2.7;2.74;2.93;2.88;2.79;-0.66	5.84	5.84	0.93424	ADAM, cysteine-rich (1);	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.998;1.0	D	0.90463	0.4447	10	0.87932	D	0	.	18.9075	0.92469	0.0:0.0:1.0:0.0	.	715;663;663;663	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Y	663;663;663;663;663;630;21	ENSP00000381262:C663Y;ENSP00000381260:C663Y;ENSP00000265727:C663Y;ENSP00000315900:C663Y;ENSP00000381267:C663Y;ENSP00000381261:C630Y;ENSP00000396233:C21Y	ENSP00000265727:C663Y	C	+	2	0	ADAM22	87630343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.482000	0.97935	2.756000	0.94617	0.655000	0.94253	TGC	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		-26.359306	0	-7	69	0	0	1	0	NM_021723	5	8.708340	143	0.033784
PSD	5662	broad.mit.edu	hg19	10	104176472	104176472	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr10:104176472C>A	ENST00000020673.5	-	2	850	c.324G>T	c.(322-324)aaG>aaT	p.K108N	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.K108N	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	108	Pro-rich.	regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	TCACACTGGCCTTCTCCACAA	0.662	0	33.0	39.0	37.0	10	104176472	2202	4299	6501	SO:0001583	missense	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""		9417912	Standard	NM_002779	Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.324G>T	10.37:g.104176472C>A	ENSP00000020673:p.Lys108Asn	B1AKX7|D3DR87|Q15673|Q8IVG0	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695155	0.48202	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.26660	1.72;1.72	5.08	4.18	0.49190	.	0.077607	0.49916	D	0.000139	T	0.27629	0.0679	N	0.08118	0	0.31762	N	0.63321	D	0.71674	0.998	D	0.78314	0.991	T	0.28839	-1.0031	10	0.59425	D	0.04	.	9.5954	0.39571	0.0:0.8383:0.0:0.1617	.	108	A5PKW4	PSD1_HUMAN	N	108	ENSP00000020673:K108N;ENSP00000384830:K108N	ENSP00000020673:K108N	K	-	3	2	PSD	104166462	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.467000	0.45093	1.153000	0.42468	-0.258000	0.10820	AAG	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2		-5.122257	1	-17	55	0	2.56e-06	1	2.88e-06		3	6.378110	52	0.054545
NOC4L	79050	broad.mit.edu	hg19	12	132633397	132633397	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:132633397G>T	ENST00000330579.1	+	9	899	c.858G>T	c.(856-858)caG>caT	p.Q286H	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	286		rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	AGCTGGCGCAGCCCACGCTCA	0.692	0	29.0	25.0	26.0	12	132633397	2191	4288	6479	SO:0001583	missense		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967		28461	protein-coding gene	gene with protein product		612819			12446671	Standard	NM_024078	Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.858G>T	12.37:g.132633397G>T	ENSP00000328854:p.Gln286His	Q8N2S5|Q96I14	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147215	0.21288	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.34275	1.37;1.37	5.44	-0.424	0.12321	.	0.341523	0.32218	N	0.006404	T	0.32224	0.0822	M	0.71581	2.175	0.80722	D	1	B	0.25441	0.126	B	0.27380	0.079	T	0.08513	-1.0718	10	0.59425	D	0.04	-32.1374	5.6594	0.17660	0.4295:0.1315:0.439:0.0	.	286	Q9BVI4	NOC4L_HUMAN	H	286;253	ENSP00000328854:Q286H;ENSP00000438255:Q253H	ENSP00000328854:Q286H	Q	+	3	2	NOC4L	131199350	0.997000	0.39634	0.985000	0.45067	0.006000	0.05464	0.427000	0.21379	-0.116000	0.11893	-0.330000	0.08379	CAG	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1		8.123757	1	6	26	0	2.56e-06	1	2.88e-06	NM_024078	3	8.479620	7	0.300000
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209		activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	GTGGGGGGCCAGCGGTCGGAG	0.612	82	104.0	89.0	94.0	19	3118942	2203	4300	6503	SO:0001583	missense	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256		4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2	1302014, 23802516	Standard	NM_002067	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu	O15109|Q14350|Q6IB00	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		77.140489	0	-26	55	0	0	1	0	NM_002067	26	77.372985	34	0.433333
RP11-152F13.10	0	broad.mit.edu	hg19	15	83218265	83218265	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:83218265T>C	ENST00000562833.1	-	5	547	c.548A>G	c.(547-549)tAt>tGt	p.Y183C	CPEB1_ENST00000568128.1_Silent_p.L448L|CPEB1_ENST00000450751.2_Silent_p.L373L|CPEB1_ENST00000562019.1_Silent_p.L453L|CPEB1_ENST00000563800.1_Silent_p.L475L|CPEB1_ENST00000261723.6_Silent_p.L451L|CPEB1_ENST00000398591.2_Silent_p.L378L|CPEB1_ENST00000564522.1_Silent_p.L373L|CPEB1_ENST00000398592.2_Silent_p.L222L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000423133.2_Silent_p.L373L|CPEB1_ENST00000568757.1_Silent_p.L373L																	CTCCACCAAATAGGTCGTTCA	0.547	0	83.0	82.0	83.0	15	83218265	2037	4180	6217	SO:0001583	missense																									ENST00000562833.1:c.548A>G	15.37:g.83218265T>C	ENSP00000454786:p.Tyr183Cys		ENST00000562833.1	37																																																																																				RP11-152F13.10-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000421095.1		52.261299	0	-11	44	0	0	1	0		17	53.392024	33	0.340000
GPR25	2848	broad.mit.edu	hg19	1	200842836	200842836	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:200842836G>A	ENST00000304244.2	+	1	754	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	224			integral to plasma membrane		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5					TGCTACTGCCGCATCTCGCGC	0.687	0	23.0	26.0	25.0	1	200842836	2186	4282	6468	SO:0001583	missense	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128	"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174			9020062	Standard	NM_005298	Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.671G>A	1.37:g.200842836G>A	ENSP00000301917:p.Arg224His	A0AVJ5	ENST00000304244.2	37	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747107	0.69418	.	.	ENSG00000170128	ENST00000304244	T	0.39056	1.1	4.52	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.281727	0.18942	U	0.126908	T	0.49218	0.1544	L	0.48260	1.515	0.29588	N	0.848649	D	0.69078	0.997	D	0.63488	0.915	T	0.41662	-0.9496	10	0.49607	T	0.09	-5.7237	7.491	0.27462	0.0:0.1191:0.4687:0.4122	.	224	O00155	GPR25_HUMAN	H	224	ENSP00000301917:R224H	ENSP00000301917:R224H	R	+	2	0	GPR25	199109459	0.000000	0.05858	0.925000	0.36789	0.986000	0.74619	-0.708000	0.05035	0.776000	0.33473	0.462000	0.41574	CGC	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1		-5.917591	0	-1	42	0	0	1	0	NM_005298	3	6.407626	55	0.051724
PRDM11	56981	broad.mit.edu	hg19	11	45204514	45204514	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr11:45204514C>G	ENST00000263765.4	+	5	677	c.428C>G	c.(427-429)gCg>gGg	p.A143G	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.A109G|PRDM11_ENST00000530656.1_Missense_Mutation_p.A143G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	143					endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26					CCAGACCGGGCGGCGCTCACC	0.602	0	71.0	70.0	70.0	11	45204514	2203	4299	6502	SO:0001583	missense	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485		13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""					Standard	NM_001256695	Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000424263.2:c.326C>G	11.37:g.45204514C>G	ENSP00000394314:p.Ala109Gly	Q8N9F1	ENST00000424263.2	37	CCDS58130.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658334	0.88154	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000009	T	0.75554	0.3865	M	0.82716	2.605	0.53005	D	0.999969	D	0.76494	0.999	D	0.73708	0.981	T	0.80044	-0.1547	10	0.87932	D	0	-26.7203	18.5796	0.91166	0.0:1.0:0.0:0.0	.	143	Q9NQV5	PRD11_HUMAN	G	143;143;109;109	ENSP00000263765:A143G;ENSP00000435976:A143G;ENSP00000431898:A109G;ENSP00000394314:A109G	ENSP00000263765:A143G	A	+	2	0	PRDM11	45161090	1.000000	0.71417	0.979000	0.43373	0.858000	0.48976	6.883000	0.75595	2.388000	0.81334	0.484000	0.47621	GCG	PRDM11-002	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389930.1		83.821024	0	-23	30	0	0	1	0	NM_020229	27	83.912931	32	0.457627
ROBO2	6092	broad.mit.edu	hg19	3	77542506	77542506	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr3:77542506A>G	ENST00000461745.1	+	5	1679	c.779A>G	c.(778-780)aAg>aGg	p.K260R	ROBO2_ENST00000332191.8_Missense_Mutation_p.K260R|ROBO2_ENST00000487694.3_Missense_Mutation_p.K276R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	260	Ig-like C2-type 3.	apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	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)	AGGTGGAAAAAGGATGATGCA	0.408	0	111.0	104.0	106.0	3	77542506	1916	4151	6067	SO:0001583	missense	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	ENST00000332191.8:c.779A>G	3.37:g.77542506A>G	ENSP00000327536:p.Lys260Arg	O43608|Q19AB4|Q19AB5	ENST00000332191.8	37		.	.	.	.	.	.	.	.	.	.	A	23.5	4.423889	0.83667	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.74421	-0.84;-0.84;-0.84	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000330	T	0.67524	0.2902	N	0.21508	0.67	0.41624	D	0.988983	B;P;B	0.37636	0.444;0.603;0.444	B;B;B	0.43018	0.405;0.283;0.405	T	0.69895	-0.5021	9	0.25106	T	0.35	.	16.2851	0.82714	1.0:0.0:0.0:0.0	.	276;260;260	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	276;276;276;260;260	ENSP00000417335:K276R;ENSP00000417164:K260R;ENSP00000327536:K260R	ENSP00000327536:K260R	K	+	2	0	ROBO2	77625196	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.271000	0.95698	2.252000	0.74401	0.402000	0.26972	AAG	ROBO2-003	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000352601.1		-3.719012	0	-30	38	0	0	1	0	XM_031246	3	6.952415	49	0.057692
DR1	1810	broad.mit.edu	hg19	1	93812222	93812222	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:93812222A>G	ENST00000370272.4	+	1	778	c.20A>G	c.(19-21)aAc>aGc	p.N7S	DR1_ENST00000370267.1_Missense_Mutation_p.N7S	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)			histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	TCGTCTGGCAACGATGATGAT	0.502	0	75.0	79.0	78.0	1	93812222	2203	4300	6503	SO:0001583	missense	M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505		3017	protein-coding gene	gene with protein product		601482			1339312, 9040789	Standard	NM_001938	Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.20A>G	1.37:g.93812222A>G	ENSP00000359295:p.Asn7Ser		ENST00000370272.4	37	CCDS744.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811357	0.32053	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.29917	1.55;1.55	5.76	4.64	0.57946	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.10809	0.05	0.53688	D	0.999975	B	0.29627	0.252	B	0.25405	0.06	T	0.17048	-1.0382	10	0.25751	T	0.34	-9.8939	11.6549	0.51313	0.9311:0.0:0.0689:0.0	.	7	Q01658	NC2B_HUMAN	S	7	ENSP00000359295:N7S;ENSP00000359290:N7S	ENSP00000359290:N7S	N	+	2	0	DR1	93584810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.053000	0.76641	1.014000	0.39417	-0.250000	0.11733	AAC	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2		175.876995	0	-29	113	0	0	1	0	NM_001938	53	175.876995	53	0.500000
USP49	25862	broad.mit.edu	hg19	6	41773545	41773545	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:41773545G>A	ENST00000394253.3	-	3	1506	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	USP49_ENST00000373010.1_Missense_Mutation_p.R393C|USP49_ENST00000373009.3_Missense_Mutation_p.R393C|USP49_ENST00000297229.2_Missense_Mutation_p.R393C|USP49_ENST00000373006.1_Missense_Mutation_p.R393C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	393		ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		TCGTAGCCGCGGAAGGCAGGG	0.612	0	56.0	52.0	53.0	6	41773545	2203	4300	6503	SO:0001583	missense	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663	"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""		14715245	Standard	NM_018561	Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1177C>T	6.37:g.41773545G>A	ENSP00000377797:p.Arg393Cys	Q5T3D9|Q5T3E0|Q96CK4	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219357	0.79464	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68398	-0.5419	10	0.87932	D	0	-11.4993	19.2213	0.93797	0.0:0.0:1.0:0.0	.	393	Q70CQ1-2	.	C	393	ENSP00000377797:R393C;ENSP00000362101:R393C;ENSP00000362100:R393C;ENSP00000362097:R393C;ENSP00000297229:R393C	ENSP00000297229:R393C	R	-	1	0	USP49	41881523	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.657000	0.67996	2.631000	0.89168	0.655000	0.94253	CGC	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3		-5.414067	0	9	44	0	0	1	0	NM_018561	3	6.354609	53	0.053571
PLCB2	5330	broad.mit.edu	hg19	15	40591139	40591139	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:40591139G>A	ENST00000260402.3	-	9	959	c.710C>T	c.(709-711)aCg>aTg	p.T237M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T237M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T237M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	237		activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	GTGCTCCTTCGTCATGTAGGG	0.577	0	93.0	97.0	96.0	15	40591139	2031	4183	6214	SO:0001583	missense		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841		9055	protein-coding gene	gene with protein product		604114			1644792, 9925923	Standard	XM_005254448	Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.710C>T	15.37:g.40591139G>A	ENSP00000260402:p.Thr237Met	A8K6J2|B9EGH5	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624573	0.66901	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.54279	0.58;0.58	3.96	3.96	0.45880	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.80982	2.52	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.994	P;P;P	0.58172	0.824;0.777;0.834	T	0.77281	-0.2646	10	0.87932	D	0	.	16.5705	0.84611	0.0:0.0:1.0:0.0	.	237;237;237	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	M	237	ENSP00000260402:T237M;ENSP00000411991:T237M	ENSP00000260402:T237M	T	-	2	0	PLCB2	38378431	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.679000	0.84048	2.198000	0.70561	0.561000	0.74099	ACG	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		119.342937	0	-16	90	0	0	1	0		38	119.471240	45	0.457831
ZNF234	10780	broad.mit.edu	hg19	19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:44654608delA	ENST00000426739.2	+	5	443	c.185delA	c.(184-186)gaafs	p.E62fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB.	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)			TTAGAAAAGGAAAAAAAGCTT	0.368	0	63.0	54.0	57.0	19	44654608	1879	4112	5991	SO:0001589	frameshift_variant	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002	"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269	7865130	Standard	NM_006630	Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.185delA	19.37:g.44654608delA	ENSP00000400878:p.Glu62fs	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	ENST00000426739.2	37	CCDS46101.1																																																																																			ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2	.	.		-10	4						2		4	0.33
BAP1	8314	broad.mit.edu	hg19	3	52442547	52442579	+	In_Frame_Del	DEL	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	-			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr3:52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	ENST00000460680.1	-	4	637_669	c.166_198delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGTG	c.(166-198)cgccggtcccggcgaaaggtctctaccttggtgdel	p.RRSRRKVSTLV56del	PHF7_ENST00000347025.2_5'Flank|PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_In_Frame_Del_p.RRSRRKVSTLV56del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.	anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	ACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATC	0.506	7									SO:0001651	inframe_deletion	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930		950	protein-coding gene	gene with protein product		603089			9528852	Standard	NM_004656	Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.166_198delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGTG	3:g.52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	ENSP00000417132:p.Arg56_Val66del	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	ENST00000460680.1		CCDS2853.1																																																																																			BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	5.320000e+00	3.920000e+01		4	17						10		0	1