#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA1	19	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107573110	107573110	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:107573110C>A	ENST00000374736.3	-	29	4540	c.4146G>T	c.(4144-4146)tgG>tgT	p.W1382C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1382					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.W1382C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CGTTGTACATCCAGGGCTGAA	0.498																																																	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM045654	ABCA1	M							201.0	176.0	184.0					9																	107573110		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4146G>T	9.37:g.107573110C>A	ENSP00000363868:p.Trp1382Cys		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818592	0.71028	.	.	ENSG00000165029	ENST00000374736	D	0.92249	-3.0	5.55	5.55	0.83447	.	0.266592	0.45606	D	0.000360	D	0.95971	0.8688	M	0.78456	2.415	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.95573	0.8640	10	0.56958	D	0.05	.	19.8667	0.96806	0.0:1.0:0.0:0.0	.	1382	O95477	ABCA1_HUMAN	C	1382	ENSP00000363868:W1382C	ENSP00000363868:W1382C	W	-	3	0	ABCA1	106612931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.939000	0.63526	2.773000	0.95371	0.655000	0.94253	TGG		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502	
ACSM2A	123876	broad.mit.edu	37	16	20486684	20486684	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:20486684A>G	ENST00000573854.1	+	7	1009	c.895A>G	c.(895-897)Aca>Gca	p.T299A	ACSM2A_ENST00000219054.6_Splice_Site_p.T299A|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Splice_Site_p.T299A|ACSM2A_ENST00000536134.1_Splice_Site_p.T71A|ACSM2A_ENST00000396104.2_Splice_Site_p.T299A|ACSM2A_ENST00000417235.2_Splice_Site_p.T220A	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	299					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.T299A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTCTTCCAGACACTCTCCAG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											85.0	71.0	76.0					16																	20486684		2202	4299	6501	SO:0001630	splice_region_variant	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.895-1A>G	16.37:g.20486684A>G			B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	9.092	1.001978	0.19121	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	3.36	1.12	0.20585	AMP-dependent synthetase/ligase (1);	0.719780	0.11977	N	0.511153	T	0.26521	0.0648	L	0.31371	0.925	0.21290	N	0.999734	B;B	0.13145	0.007;0.007	B;B	0.14023	0.01;0.01	T	0.20107	-1.0285	9	.	.	.	-3.9927	6.1666	0.20394	0.4131:0.0:0.5869:0.0	.	220;299	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	A	220;299;71;299	ENSP00000392169:T220A;ENSP00000219054:T299A;ENSP00000445082:T71A;ENSP00000379411:T299A	.	T	+	1	0	ACSM2A	20394185	0.993000	0.37304	0.904000	0.35570	0.013000	0.08279	1.804000	0.38873	0.601000	0.29879	0.248000	0.18094	ACA		0.478	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1		NM_001010845	Missense_Mutation
AGA	175	broad.mit.edu;ucsc.edu	37	4	178357480	178357480	+	Silent	SNP	T	T	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr4:178357480T>A	ENST00000264595.2	-	6	775	c.648A>T	c.(646-648)ggA>ggT	p.G216G	AGA_ENST00000506853.1_Intron	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	216					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.G216G(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGCAATATGTCCTGTCTTAT	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											140.0	134.0	136.0					4																	178357480		2202	4300	6502	SO:0001819	synonymous_variant	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.648A>T	4.37:g.178357480T>A			B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Silent	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	0.679	-0.798956	0.02841	.	.	ENSG00000038002	ENST00000510635	.	.	.	5.69	0.0362	0.14191	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37337	-0.9710	4	.	.	.	-27.9636	5.0055	0.14286	0.0:0.2146:0.2711:0.5143	.	.	.	.	V	115	.	.	D	-	2	0	AGA	178594474	0.927000	0.31430	0.075000	0.20258	0.130000	0.20726	0.422000	0.21296	0.081000	0.16988	-0.250000	0.11733	GAC		0.328	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1		NM_000027	
AHR	196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	17379447	17379448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr7:17379447_17379448insC	ENST00000242057.4	+	10	2641_2642	c.1998_1999insC	c.(1999-2001)caafs	p.Q667fs		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	667					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATTGTCCACAGCAAGACCCACA	0.401																																																	0																																										SO:0001589	frameshift_variant	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1999dupC	7.37:g.17379448_17379448dupC	ENSP00000242057:p.Gln667fs		A4D130|Q13728|Q13803|Q13804	Frame_Shift_Ins	INS	ENST00000242057.4	37	CCDS5366.1																																																																																				0.401	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2		NM_001621	
ANKRD1	27063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	92679944	92679944	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr10:92679944C>A	ENST00000371697.3	-	2	437	c.189G>T	c.(187-189)gaG>gaT	p.E63D	RNU6-740P_ENST00000364734.1_RNA	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	63					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.E63D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTCGTTGTTTCTCGCTTTTCC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											203.0	185.0	191.0					10																	92679944		2203	4300	6503	SO:0001583	missense	27063			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.189G>T	10.37:g.92679944C>A	ENSP00000360762:p.Glu63Asp		Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461334	0.43736	.	.	ENSG00000148677	ENST00000371697	T	0.69040	-0.37	5.76	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.36672	1.1	0.37858	D	0.929639	P	0.38922	0.651	B	0.30401	0.115	T	0.49899	-0.8890	10	0.27082	T	0.32	.	9.9208	0.41464	0.0:0.7928:0.0:0.2072	.	63	Q15327	ANKR1_HUMAN	D	63	ENSP00000360762:E63D	ENSP00000360762:E63D	E	-	3	2	ANKRD1	92669924	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	2.488000	0.45276	0.907000	0.36646	-0.145000	0.13849	GAG		0.512	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1		NM_014391	
ARHGDIG	398	broad.mit.edu	37	16	332799	332799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:332799delG	ENST00000219409.3	+	6	738	c.663delG	c.(661-663)cagfs	p.Q221fs	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	221					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCATCTGCCAGGACTGGAAGG	0.647											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													29.0	27.0	28.0					16																	332799		2199	4297	6496	SO:0001589	frameshift_variant	398			U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"""RhoGDI gamma"""	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.663delG	16.37:g.332799delG	ENSP00000219409:p.Gln221fs	587	Q4TT69|Q96S29	Frame_Shift_Del	DEL	ENST00000219409.3	37	CCDS10404.1																																																																																				0.647	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			
ARID2	196528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46245726	46245726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:46245726delG	ENST00000334344.6	+	15	3992	c.3820delG	c.(3820-3822)ggafs	p.G1274fs	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.G1125fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.G884fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1274					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGCCGACGAGGAGCCACAAA	0.428			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													54.0	53.0	53.0					12																	46245726		2203	4300	6503	SO:0001589	frameshift_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3820delG	12.37:g.46245726delG	ENSP00000335044:p.Gly1274fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	CCDS31783.1																																																																																				0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875	
BCKDHA	593	broad.mit.edu;ucsc.edu	37	19	41932579	41932579	+	IGR	SNP	G	G	A	rs199803357	byFrequency	TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:41932579G>A	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_Intron|B3GNT8_ENST00000321702.2_Silent_p.Y35Y	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.Y35Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GAGGGCTGGGGTAGGCCTTGC	0.667													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12577	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											33.0	34.0	34.0					19																	41932579		2203	4300	6503	SO:0001628	intergenic_variant	374907			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932579G>A			B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	CCDS12581.1																																																																																				0.667	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3		NM_000709	
MIR99AHG	388815	hgsc.bcm.edu;ucsc.edu	37	21	17763931	17763931	+	lincRNA	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr21:17763931C>T	ENST00000458468.1	+	0	469					NR_027790.1																						AAATACTTTTCAGGAGCTCTT	0.284																																																	0													47.0	49.0	48.0					21																	17763931		2203	4299	6502			0																															21.37:g.17763931C>T				RNA	SNP	ENST00000458468.1	37																																																																																					0.284	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			
BRWD1	54014	broad.mit.edu;ucsc.edu	37	21	40568695	40568695	+	Silent	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr21:40568695T>C	ENST00000333229.2	-	41	6627	c.6300A>G	c.(6298-6300)agA>agG	p.R2100R	BRWD1_ENST00000380800.3_Silent_p.R2100R|BRWD1_ENST00000342449.3_Silent_p.R2100R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2100					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R2100R(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGTCCTGAGTCTTCTGCCAT	0.428																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - coding silent(2)	kidney(2)											174.0	166.0	169.0					21																	40568695		2203	4299	6502	SO:0001819	synonymous_variant	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6300A>G	21.37:g.40568695T>C			C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1																																																																																				0.428	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656	
C6orf62	81688	broad.mit.edu	37	6	24719011	24719011	+	5'UTR	SNP	G	G	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr6:24719011G>T	ENST00000378119.4	-	0	2053				C6orf62_ENST00000540769.1_Intron|C6orf62_ENST00000378102.3_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62							intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TAATATGATTGATTAGCGAAA	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	81688			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.-115C>A	6.37:g.24719011G>T			Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	5'UTR	SNP	ENST00000378119.4	37	CCDS4559.1																																																																																				0.368	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1		NM_030939	
CACNA1C	775	broad.mit.edu	37	12	2595320	2595320	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:2595320C>T	ENST00000347598.4	+	6	808	c.808C>T	c.(808-810)Cac>Tac	p.H270Y	CACNA1C_ENST00000335762.5_Missense_Mutation_p.H270Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H270Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	270					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.H270Y(3)|p.H300Y(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCCTGCTGCACATCGCCCT	0.572																																																	4	Substitution - Missense(4)	kidney(4)											107.0	109.0	108.0					12																	2595320		2202	4300	6502	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.808C>T	12.37:g.2595320C>T	ENSP00000266376:p.His270Tyr		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864719	0.91511	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	L	0.60957	1.885	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.986;0.996;1.0;0.975;0.997;0.962;0.997;0.998;1.0;0.997;0.962;0.998;0.995;0.997;0.998;0.962;1.0;0.997;0.992;0.962;0.997;0.997;0.962;0.962	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D	0.87578	0.974;0.986;0.995;0.974;0.993;0.946;0.993;0.986;0.991;0.993;0.946;0.986;0.993;0.992;0.996;0.946;0.998;0.993;0.877;0.946;0.993;0.993;0.946;0.946	D	0.99751	1.1018	10	0.59425	D	0.04	.	18.4877	0.90835	0.0:1.0:0.0:0.0	.	270;270;270;270;270;270;270;270;270;270;270;241;270;270;270;270;270;270;270;270;270;270;270;270	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;111	ENSP00000336982:H270Y;ENSP00000382563:H270Y;ENSP00000437936:H270Y;ENSP00000382552:H270Y;ENSP00000382547:H270Y;ENSP00000382506:H270Y;ENSP00000382530:H270Y;ENSP00000382546:H270Y;ENSP00000382500:H270Y;ENSP00000382549:H270Y;ENSP00000266376:H270Y;ENSP00000382515:H270Y;ENSP00000382510:H270Y;ENSP00000341092:H270Y;ENSP00000382537:H270Y;ENSP00000329877:H270Y;ENSP00000382557:H270Y;ENSP00000385724:H270Y;ENSP00000382512:H270Y;ENSP00000382542:H270Y;ENSP00000382526:H270Y;ENSP00000385896:H270Y;ENSP00000382504:H270Y	ENSP00000323129:H111Y	H	+	1	0	CACNA1C	2465581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.595000	0.87683	0.655000	0.94253	CAC		0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
CASR	846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122002936	122002936	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:122002936C>T	ENST00000490131.1	+	7	2507	c.2135C>T	c.(2134-2136)aCc>aTc	p.T712I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.T712I|CASR_ENST00000498619.1_Missense_Mutation_p.T722I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	712					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T712I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAGATCCCCACCAGCTTCCAC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											61.0	56.0	57.0					3																	122002936		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2135C>T	3.37:g.122002936C>T	ENSP00000418685:p.Thr712Ile		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873815	0.51695	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87966	-2.32;-2.32;-2.32	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91382	0.7281	L	0.39898	1.24	0.58432	D	0.999992	D;D	0.89917	1.0;0.978	D;P	0.87578	0.998;0.824	D	0.91433	0.5167	10	0.72032	D	0.01	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	722;712	E7ENE0;P41180	.;CASR_HUMAN	I	712;722;712	ENSP00000418685:T712I;ENSP00000420194:T722I;ENSP00000296154:T712I	ENSP00000296154:T712I	T	+	2	0	CASR	123485626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.848000	0.62874	2.873000	0.98535	0.561000	0.74099	ACC		0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1		NM_000388	
CLPB	81570	broad.mit.edu;ucsc.edu	37	11	72012970	72012970	+	Silent	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr11:72012970G>A	ENST00000294053.3	-	12	1469	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	CLPB_ENST00000437826.2_Silent_p.G387G|CLPB_ENST00000543042.1_Silent_p.G231G|CLPB_ENST00000538039.1_Silent_p.G402G|CLPB_ENST00000340729.5_Silent_p.G373G|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000538021.1_Silent_p.G40G	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	432					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.G432G(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCTCCTCATGGCCAACGTAGC	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											143.0	121.0	128.0					11																	72012970		2200	4293	6493	SO:0001819	synonymous_variant	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1296C>T	11.37:g.72012970G>A			B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198157	0.22037	.	.	ENSG00000162129	ENST00000544382	.	.	.	5.63	4.69	0.59074	.	.	.	.	.	T	0.61185	0.2327	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57906	-0.7730	4	.	.	.	-19.8082	10.5361	0.45004	0.0:0.1431:0.7086:0.1483	.	.	.	.	V	210	.	.	A	-	2	0	CLPB	71690618	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.126000	0.31344	2.652000	0.90054	0.655000	0.94253	GCC		0.522	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1		NM_030813	
CWC27	10283	broad.mit.edu;ucsc.edu	37	5	64082386	64082386	+	Silent	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr5:64082386G>A	ENST00000381070.3	+	6	748	c.531G>A	c.(529-531)agG>agA	p.R177R	CWC27_ENST00000508024.1_Silent_p.R177R	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	177					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R177R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TCATTCCAAGGGAAATTAAAA	0.313																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	73.0	73.0					5																	64082386		2203	4299	6502	SO:0001819	synonymous_variant	10283			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.531G>A	5.37:g.64082386G>A			O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	37	CCDS3982.2																																																																																				0.313	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4		NM_005869	
DHX9	1660	hgsc.bcm.edu;ucsc.edu	37	1	182825719	182825719	+	Intron	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:182825719T>C	ENST00000367549.3	+	7	783					NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9						ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAGAAGTAAGTGTTACTGTTT	0.363																																					Colon(69;210 1162 3697 13559 39565)												0													145.0	141.0	142.0					1																	182825719		1853	4095	5948	SO:0001627	intron_variant	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.673+6T>C	1.37:g.182825719T>C			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	RNA	SNP	ENST00000367549.3	37	CCDS41444.1																																																																																				0.363	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588	
DNAH14	127602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	225266907	225266907	+	Splice_Site	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:225266907A>T	ENST00000445597.2	+	14	2226		c.e14-1		DNAH14_ENST00000430092.1_Splice_Site|DNAH14_ENST00000439375.2_Splice_Site			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.?(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGTTGATTTCAGGTTGTGGAA	0.299																																																	2	Unknown(2)	kidney(2)											35.0	31.0	32.0					1																	225266907		692	1590	2282	SO:0001630	splice_region_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.2227-1A>T	1.37:g.225266907A>T			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Splice_Site	SNP	ENST00000445597.2	37		.	.	.	.	.	.	.	.	.	.	A	18.38	3.612307	0.66672	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3098	0.60374	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH14	223333530	1.000000	0.71417	0.458000	0.27068	0.884000	0.51177	5.679000	0.68160	2.042000	0.60477	0.332000	0.21555	.		0.299	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3		XM_059166	Intron
DPCR1	135656	hgsc.bcm.edu;ucsc.edu	37	6	30918543	30918545	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr6:30918543_30918545delTTG	ENST00000462446.1	+	2	2330_2332	c.2302_2304delTTG	c.(2302-2304)ttgdel	p.L768del	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	341						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGGACTCCATTGGCCAATGAGA	0.488																																																	0																																										SO:0001651	inframe_deletion	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2302_2304delTTG	6.37:g.30918543_30918545delTTG	ENSP00000417182:p.Leu768del		C9IZC0|Q658M7|Q8WYN2	In_Frame_Del	DEL	ENST00000462446.1	37	CCDS4692.2																																																																																				0.488	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		NM_080870	
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45434244	45434244	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr15:45434244G>A	ENST00000321429.4	+	16	2163	c.1756G>A	c.(1756-1758)Gac>Aac	p.D586N	DUOX1_ENST00000389037.3_Missense_Mutation_p.D586N|DUOX1_ENST00000561166.1_Missense_Mutation_p.D232N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	586	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.D586N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGTTGTTCGTGACTATTTTGA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											147.0	132.0	137.0					15																	45434244		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1756G>A	15.37:g.45434244G>A	ENSP00000317997:p.Asp586Asn		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.955024	0.34471	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.89050	-2.46;-2.46	4.85	3.93	0.45458	.	0.242826	0.48767	N	0.000170	D	0.85592	0.5732	L	0.52126	1.63	0.48135	D	0.999597	B	0.22851	0.076	B	0.26614	0.071	D	0.83755	0.0211	10	0.66056	D	0.02	-31.1523	11.3628	0.49653	0.0893:0.0:0.9107:0.0	.	586	Q9NRD9	DUOX1_HUMAN	N	586	ENSP00000317997:D586N;ENSP00000373689:D586N	ENSP00000317997:D586N	D	+	1	0	DUOX1	43221536	0.998000	0.40836	0.941000	0.38009	0.239000	0.25481	2.890000	0.48609	1.399000	0.46721	-0.150000	0.13652	GAC		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434	
FAM160A1	729830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	152577469	152577469	+	Silent	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr4:152577469T>C	ENST00000505231.1	+	10	2796	c.2637T>C	c.(2635-2637)atT>atC	p.I879I	FAM160A1_ENST00000435205.1_Silent_p.I879I			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	879								p.I879I(2)		endometrium(2)|kidney(1)	3						TCGGGATCATTACTCAGCTAG	0.507																																																	2	Substitution - coding silent(2)	kidney(2)											93.0	80.0	84.0					4																	152577469		692	1591	2283	SO:0001819	synonymous_variant	729830				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.2637T>C	4.37:g.152577469T>C			Q6ZUS2	Silent	SNP	ENST00000505231.1	37	CCDS47146.1																																																																																				0.507	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365691.1		NM_001109977	
FGG	2266	broad.mit.edu	37	4	155527857	155527857	+	Splice_Site	SNP	C	C	T	rs192482410		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr4:155527857C>T	ENST00000336098.3	-	8	1167	c.1129G>A	c.(1129-1131)Ggt>Agt	p.G377S	FGG_ENST00000404648.3_Splice_Site_p.G377S|FGG_ENST00000405164.1_Splice_Site_p.G385S|FGG_ENST00000407946.1_Splice_Site_p.G385S	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	377	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		G -> VMCGEALPMLKDPCYS (in Paris-1; impaired polymerization). {ECO:0000269|PubMed:8470043}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G377S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAAACATACCTTGGTAATAA	0.323																																																	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM071762	FGG	M	rs192482410						131.0	125.0	127.0					4																	155527857		2203	4300	6503	SO:0001630	splice_region_variant	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1129+1G>A	4.37:g.155527857C>T			A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446431	0.96187	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.91	5.91	0.95273	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	L	0.55103	1.725	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.89;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.811;0.998;0.999;1.0	D	0.85904	0.1436	9	.	.	.	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	274;385;377;385;377	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	S	377;385;377;385	ENSP00000384860:G377S;ENSP00000384101:G385S;ENSP00000336829:G377S;ENSP00000384552:G385S	.	G	-	1	0	FGG	155747307	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.590000	0.82653	2.802000	0.96397	0.655000	0.94253	GGT		0.323	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1		NM_021870	Missense_Mutation
FRMPD1	22844	broad.mit.edu;ucsc.edu	37	9	37744613	37744613	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:37744613A>T	ENST00000539465.1	+	16	3177	c.2584A>T	c.(2584-2586)Agt>Tgt	p.S862C	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S862C|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	862						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S862C(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCCTGGAGAGTGTAGACGA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											80.0	76.0	77.0					9																	37744613		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2584A>T	9.37:g.37744613A>T	ENSP00000444411:p.Ser862Cys		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574026	0.86542	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.09255	3.0;3.0	5.53	5.53	0.82687	.	0.288937	0.38959	N	0.001513	T	0.19046	0.0457	L	0.55481	1.735	0.80722	D	1	D	0.60575	0.988	P	0.50231	0.635	T	0.00400	-1.1763	10	0.72032	D	0.01	-8.5753	13.5998	0.62013	1.0:0.0:0.0:0.0	.	862	Q5SYB0	FRPD1_HUMAN	C	862	ENSP00000366995:S862C;ENSP00000444411:S862C	ENSP00000366995:S862C	S	+	1	0	FRMPD1	37734613	0.991000	0.36638	0.989000	0.46669	0.918000	0.54935	3.038000	0.49783	2.104000	0.64026	0.459000	0.35465	AGT		0.562	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907	
G3BP1	10146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	151179550	151179550	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr5:151179550G>A	ENST00000394123.3	+	9	1089	c.944G>A	c.(943-945)gGa>gAa	p.G315E	G3BP1_ENST00000356245.3_Missense_Mutation_p.G315E|G3BP1_ENST00000543466.1_Missense_Mutation_p.G133E			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	315					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.G315E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCCCAAAGGGGACCCAGACCA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											30.0	31.0	31.0					5																	151179550		2203	4300	6503	SO:0001583	missense	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.944G>A	5.37:g.151179550G>A	ENSP00000377681:p.Gly315Glu		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050451	0.75960	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.75821	-0.75;-0.97;-0.75	5.29	5.29	0.74685	.	0.103280	0.64402	D	0.000002	T	0.78666	0.4319	M	0.77103	2.36	0.58432	D	0.999996	D	0.59767	0.986	P	0.47206	0.541	T	0.76405	-0.2971	10	0.16420	T	0.52	-12.1992	19.3089	0.94177	0.0:0.0:1.0:0.0	.	315	Q13283	G3BP1_HUMAN	E	315;133;315;157	ENSP00000377681:G315E;ENSP00000445035:G133E;ENSP00000348578:G315E	ENSP00000274596:G157E	G	+	2	0	G3BP1	151159743	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.652000	0.74377	2.631000	0.89168	0.650000	0.86243	GGA		0.463	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1		NM_005754	
GDPD1	284161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57334552	57334552	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr17:57334552C>T	ENST00000284116.4	+	5	574	c.437C>T	c.(436-438)aCt>aTt	p.T146I	GDPD1_ENST00000581140.1_Missense_Mutation_p.T146I|GDPD1_ENST00000581276.1_Missense_Mutation_p.T146I	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	146	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.T146I(2)		endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTTCCTAACACTCCCATTAAC	0.383																																																	2	Substitution - Missense(2)	kidney(2)											154.0	137.0	143.0					17																	57334552		2203	4300	6503	SO:0001583	missense	284161			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.437C>T	17.37:g.57334552C>T	ENSP00000284116:p.Thr146Ile		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770835	0.49680	.	.	ENSG00000153982	ENST00000284116	T	0.10288	2.89	5.66	5.66	0.87406	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	L	0.28556	0.865	0.80722	D	1	B;B	0.19331	0.035;0.019	B;B	0.20955	0.032;0.028	T	0.13522	-1.0506	10	0.33141	T	0.24	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	146;146	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	I	146	ENSP00000284116:T146I	ENSP00000284116:T146I	T	+	2	0	GDPD1	54689334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.488000	0.60300	2.670000	0.90874	0.561000	0.74099	ACT		0.383	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1		NM_182569	
GJA10	84694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90604723	90604723	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr6:90604723A>G	ENST00000369352.1	+	1	536	c.536A>G	c.(535-537)tAt>tGt	p.Y179C		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	179					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.Y179C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TATATTCTCTATGGGTTTCAA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											135.0	133.0	134.0					6																	90604723		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.536A>G	6.37:g.90604723A>G	ENSP00000358358:p.Tyr179Cys		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842702	0.71488	.	.	ENSG00000135355	ENST00000369352	D	0.97994	-4.65	4.91	4.91	0.64330	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.96518	3.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.87932	D	0	.	14.724	0.69329	1.0:0.0:0.0:0.0	.	179	Q969M2	CXA10_HUMAN	C	179	ENSP00000358358:Y179C	ENSP00000358358:Y179C	Y	+	2	0	GJA10	90661444	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.125000	0.77193	2.079000	0.62486	0.460000	0.39030	TAT		0.448	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1		NM_032602	
GOLGA4	2803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	37343778	37343778	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:37343778C>A	ENST00000361924.2	+	10	1563	c.1189C>A	c.(1189-1191)Cag>Aag	p.Q397K	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q419K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	397	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q397K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATGACTACCCAGGGAGAGGA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											61.0	62.0	62.0					3																	37343778		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1189C>A	3.37:g.37343778C>A	ENSP00000354486:p.Gln397Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530574	0.85706	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T	0.26067	1.76;1.76;1.81	5.89	5.89	0.94794	.	0.000000	0.32518	N	0.005988	T	0.47192	0.1432	M	0.76574	2.34	0.35071	D	0.762517	D;P;D	0.61697	0.99;0.552;0.981	D;B;P	0.70227	0.968;0.187;0.643	T	0.52411	-0.8579	10	0.18276	T	0.48	.	12.9715	0.58515	0.1265:0.7512:0.1222:0.0	.	397;419;397	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	K	397;419;402;268	ENSP00000354486:Q397K;ENSP00000349305:Q419K;ENSP00000405842:Q268K	ENSP00000349305:Q419K	Q	+	1	0	GOLGA4	37318782	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.287000	0.51732	2.793000	0.96121	0.655000	0.94253	CAG		0.403	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2		NM_002078	
GPAM	57678	broad.mit.edu;ucsc.edu	37	10	113932775	113932775	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr10:113932775T>C	ENST00000348367.4	-	8	807	c.610A>G	c.(610-612)Att>Gtt	p.I204V	GPAM_ENST00000423155.1_Missense_Mutation_p.I204V|GPAM_ENST00000369425.1_Missense_Mutation_p.I204V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	204				I -> F (in Ref. 1; CAD89932). {ECO:0000305}.	acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.I204V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGAATTTGAATGTTCCAAAAG	0.373																																					Ovarian(161;1017 2606 18293 52943)												1	Substitution - Missense(1)	kidney(1)											126.0	121.0	123.0					10																	113932775		2203	4300	6503	SO:0001583	missense	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.610A>G	10.37:g.113932775T>C	ENSP00000265276:p.Ile204Val		Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	T	8.636	0.894824	0.17613	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.94046	-3.34;-3.34;-3.34	6.06	4.74	0.60224	.	0.052909	0.85682	D	0.000000	D	0.86037	0.5837	N	0.13168	0.305	0.53005	D	0.999968	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.011	T	0.81955	-0.0696	10	0.41790	T	0.15	-24.8291	11.4215	0.49985	0.0:0.0786:0.0:0.9214	.	204;204	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	V	204	ENSP00000265276:I204V;ENSP00000409242:I204V;ENSP00000358433:I204V	ENSP00000265276:I204V	I	-	1	0	GPAM	113922765	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.793000	0.55484	2.315000	0.78130	0.533000	0.62120	ATT		0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1		NM_020918	
IFNA1	3439	broad.mit.edu	37	9	21440985	21440985	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:21440985G>A	ENST00000276927.1	+	1	546	c.479G>A	c.(478-480)aGc>aAc	p.S160N		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	160					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S160N(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AAGAAATACAGCCCTTGTGCC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											59.0	71.0	67.0					9																	21440985		2184	4270	6454	SO:0001583	missense	3439				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"""Interferons"""	5417	protein-coding gene	gene with protein product	"""IFN-alpha 1b"", ""interferon alpha 1b"""	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.479G>A	9.37:g.21440985G>A	ENSP00000276927:p.Ser160Asn		D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209015	0.79240	.	.	ENSG00000197919	ENST00000276927	T	0.10573	2.86	3.21	3.21	0.36854	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.147381	0.64402	D	0.000012	T	0.28366	0.0701	M	0.90369	3.11	0.21105	N	0.999788	B	0.27765	0.188	P	0.46049	0.502	T	0.20874	-1.0262	10	0.72032	D	0.01	.	6.4321	0.21803	0.1389:0.0:0.8611:0.0	.	160	P01562	IFNA1_HUMAN	N	160	ENSP00000276927:S160N	ENSP00000276927:S160N	S	+	2	0	IFNA1	21430985	0.386000	0.25180	0.097000	0.21041	0.959000	0.62525	1.124000	0.31320	1.791000	0.52520	0.603000	0.83216	AGC		0.453	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1		NM_024013	
IL18RAP	8807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	103068553	103068553	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr2:103068553A>G	ENST00000264260.2	+	12	2301	c.1712A>G	c.(1711-1713)cAg>cGg	p.Q571R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Q429R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	571					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q571R(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACGTGGAACCAGCTCAGAATT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											134.0	146.0	142.0					2																	103068553		2203	4300	6503	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1712A>G	2.37:g.103068553A>G	ENSP00000264260:p.Gln571Arg		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	5.884	0.347192	0.11126	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02525	4.32;4.26	5.8	1.79	0.24919	.	1.844420	0.02480	N	0.088446	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42882	-0.9425	10	0.12430	T	0.62	.	7.0604	0.25123	0.6292:0.0:0.3708:0.0	.	571	O95256	I18RA_HUMAN	R	571;429	ENSP00000264260:Q571R;ENSP00000387201:Q429R	ENSP00000264260:Q571R	Q	+	2	0	IL18RAP	102434985	0.000000	0.05858	0.002000	0.10522	0.203000	0.24098	0.765000	0.26546	0.479000	0.27511	0.528000	0.53228	CAG		0.483	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853	
INPP4B	8821	hgsc.bcm.edu;ucsc.edu	37	4	143067033	143067034	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr4:143067033_143067034insT	ENST00000513000.1	-	19	2112_2113	c.1679_1680insA	c.(1678-1680)aagfs	p.K560fs	INPP4B_ENST00000308502.4_Frame_Shift_Ins_p.K560fs|INPP4B_ENST00000509777.1_Frame_Shift_Ins_p.K560fs|INPP4B_ENST00000262992.4_Frame_Shift_Ins_p.K560fs|INPP4B_ENST00000508116.1_Frame_Shift_Ins_p.K560fs	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	560					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATGAAGGTTCCTTTTCTCCATC	0.411																																																	0																																										SO:0001589	frameshift_variant	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1680dupA	4.37:g.143067037_143067037dupT	ENSP00000425487:p.Lys560fs		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Frame_Shift_Ins	INS	ENST00000513000.1	37	CCDS3757.1																																																																																				0.411	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866	
LRFN1	57622	broad.mit.edu	37	19	39805558	39805558	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:39805558C>T	ENST00000248668.4	-	1	418	c.419G>A	c.(418-420)cGc>cAc	p.R140H	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	140						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R92H(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GATCAGGTGGCGGAGGTTGCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											11.0	13.0	12.0					19																	39805558		1913	4096	6009	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.419G>A	19.37:g.39805558C>T	ENSP00000248668:p.Arg140His		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267661	0.23136	.	.	ENSG00000128011	ENST00000248668	T	0.54675	0.56	4.3	3.26	0.37387	.	0.000000	0.40640	N	0.001052	T	0.40694	0.1127	L	0.54908	1.71	0.53688	D	0.999979	B	0.32781	0.384	B	0.26094	0.066	T	0.17319	-1.0373	10	0.16896	T	0.51	.	9.6606	0.39952	0.0:0.8961:0.0:0.1039	.	140	Q9P244	LRFN1_HUMAN	H	140	ENSP00000248668:R140H	ENSP00000248668:R140H	R	-	2	0	LRFN1	44497398	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.163000	0.50763	1.018000	0.39521	0.455000	0.32223	CGC		0.687	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		NM_020862	
MID1IP1	58526	broad.mit.edu	37	X	38664279	38664279	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chrX:38664279A>G	ENST00000336949.6	+	2	1025	c.80A>G	c.(79-81)aAc>aGc	p.N27S	MID1IP1_ENST00000378474.3_Missense_Mutation_p.N27S|MID1IP1_ENST00000457894.1_Missense_Mutation_p.N27S|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	27					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.N27S(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GCCGTGAACAACATGGACCAG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											109.0	73.0	85.0					X																	38664279		2202	4300	6502	SO:0001583	missense	58526				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.80A>G	X.37:g.38664279A>G	ENSP00000338706:p.Asn27Ser		D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836528	0.71373	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.75777	2.31	0.58432	D	0.999998	D	0.52996	0.957	P	0.57324	0.818	T	0.75687	-0.3231	9	0.48119	T	0.1	-1.2826	12.9139	0.58195	1.0:0.0:0.0:0.0	.	27	Q9NPA3	M1IP1_HUMAN	S	27	.	ENSP00000338706:N27S	N	+	2	0	MID1IP1	38549223	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.564000	0.90726	1.698000	0.51180	0.430000	0.28490	AAC		0.602	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			
MAGEA5	4104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151283746	151283746	+	RNA	SNP	G	G	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chrX:151283746G>T	ENST00000509345.2	-	0	590																		p.N89K(1)									CCTCTTCTTGGTTGCTGGAGC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											89.0	83.0	85.0					X																	151283746		2203	4300	6503			4104																															X.37:g.151283746G>T				Missense_Mutation	SNP	ENST00000509345.2	37																																																																																					0.557	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			
MUC17	140453	hgsc.bcm.edu;ucsc.edu	37	7	100678377	100678378	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr7:100678377_100678378insC	ENST00000306151.4	+	3	3744_3745	c.3680_3681insC	c.(3679-3684)agacacfs	p.RH1227fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1227	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGCCTGTCAGACACACGCCAG	0.515																																																	0																																										SO:0001589	frameshift_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	Exception_encountered	7.37:g.100678377_100678378insC	ENSP00000302716:p.Arg1227fs		O14761|Q685J2|Q8TDH7	Frame_Shift_Ins	INS	ENST00000306151.4	37	CCDS34711.1																																																																																				0.515	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
MUC17	140453	hgsc.bcm.edu;ucsc.edu	37	7	100678380	100678380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr7:100678380delA	ENST00000306151.4	+	3	3747	c.3683delA	c.(3682-3684)cacfs	p.H1228fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1228	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTCAGACACACGCCAGTG	0.517																																																	0													312.0	294.0	300.0					7																	100678380		2203	4300	6503	SO:0001589	frameshift_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3683delA	7.37:g.100678380delA	ENSP00000302716:p.His1228fs		O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL	ENST00000306151.4	37	CCDS34711.1																																																																																				0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
MUC4	4585	hgsc.bcm.edu	37	3	195508415	195508462	+	In_Frame_Del	DEL	GCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	-	rs552027036|rs568124972|rs374252082|rs200683272|rs199756970|rs201319965|rs560125103|rs71187746|rs537438050|rs529417345|rs150749980|rs527497274|rs549411987|rs548345415|rs113897465|rs201933946|rs201140402	byFrequency	TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	GCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:195508415_195508462delGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENST00000463781.3	-	2	10448_10495	c.9989_10036delATGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTGTGC	c.(9988-10038)catgtcaccagcccttcctcagcatccacaggtgacaccacccctgtgcct>cct	p.HVTSPSSASTGDTTPV3330del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.HVTSPSSASTGDTTPV3330del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGT	0.585																																																	1	Deletion - In frame(1)	stomach(1)																																								SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9989_10036delATGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTGTGC	3.37:g.195508415_195508462delGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENSP00000417498:p.His3330_Val3345del		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195511888	195511888	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:195511888C>G	ENST00000463781.3	-	2	7022	c.6563G>C	c.(6562-6564)gGt>gCt	p.G2188A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2188A|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G2188A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGGCGTGACCTGTGGATGC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											10.0	14.0	13.0					3																	195511888		622	1531	2153	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6563G>C	3.37:g.195511888C>G	ENSP00000417498:p.Gly2188Ala		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	4.436	0.080751	0.08533	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29655	1.56;1.58	.	.	.	.	.	.	.	.	T	0.30448	0.0765	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	D	0.68483	0.958	T	0.17653	-1.0362	7	.	.	.	.	4.3952	0.11360	0.0:0.6675:0.0:0.3325	.	2188	E7ESK3	.	A	2188	ENSP00000417498:G2188A;ENSP00000420243:G2188A	.	G	-	2	0	MUC4	196996283	0.004000	0.15560	0.001000	0.08648	0.116000	0.19942	0.673000	0.25203	-0.417000	0.07461	0.064000	0.15345	GGT		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NPAS1	4861	broad.mit.edu	37	19	47539293	47539293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:47539293delG	ENST00000602212.1	+	6	814	c.594delG	c.(592-594)ctgfs	p.L198fs	NPAS1_ENST00000449844.2_Frame_Shift_Del_p.L198fs|NPAS1_ENST00000602189.1_Frame_Shift_Del_p.L22fs|NPAS1_ENST00000439365.2_Frame_Shift_Del_p.L22fs			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	198	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TGGAGCAACTGGGGCTGCGGA	0.652											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18.0	17.0	17.0					19																	47539293		2202	4299	6501	SO:0001589	frameshift_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.594delG	19.37:g.47539293delG	ENSP00000469142:p.Leu198fs	947	B4DR69|Q99632|Q9BY83	Frame_Shift_Del	DEL	ENST00000602212.1	37	CCDS12694.1																																																																																				0.652	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1		NM_002517	
NUTF2	10204	broad.mit.edu	37	16	67899046	67899046	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:67899046C>A	ENST00000219169.4	+	2	296	c.13C>A	c.(13-15)Cca>Aca	p.P5T	NUTF2_ENST00000568396.2_Missense_Mutation_p.P5T|NUTF2_ENST00000569436.2_Missense_Mutation_p.P5T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	5					protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)	p.P5T(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GGGAGACAAGCCAATTTGGGA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											65.0	55.0	59.0					16																	67899046		2198	4300	6498	SO:0001583	missense	10204			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.13C>A	16.37:g.67899046C>A	ENSP00000219169:p.Pro5Thr		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857640	0.91433	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.88	D	0.85761	0.1349	9	0.72032	D	0.01	.	18.0088	0.89217	0.0:1.0:0.0:0.0	.	5;5	B4DEQ2;P61970	.;NTF2_HUMAN	T	5	.	ENSP00000219169:P5T	P	+	1	0	NUTF2	66456547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.137000	0.77295	2.557000	0.86248	0.555000	0.69702	CCA		0.488	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			
NUDT7	283927	broad.mit.edu;ucsc.edu	37	16	77775489	77775489	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:77775489T>G	ENST00000268533.5	+	4	428	c.359T>G	c.(358-360)tTg>tGg	p.L120W	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000563839.1_Nonstop_Mutation_p.*16G|NUDT7_ENST00000437314.3_Missense_Mutation_p.L67W|NUDT7_ENST00000564085.1_Missense_Mutation_p.I151M|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	120	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.L120W(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ACAGATACATTGATAACTCCA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											59.0	56.0	57.0					16																	77775489		1876	4094	5970	SO:0001583	missense	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.359T>G	16.37:g.77775489T>G	ENSP00000268533:p.Leu120Trp		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	T	9.210	1.030806	0.19590	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.51071	0.72;0.72	5.29	1.61	0.23674	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.517985	0.19479	N	0.113259	T	0.51753	0.1693	M	0.79011	2.435	0.09310	N	1	B;P	0.35226	0.33;0.491	B;B	0.44163	0.091;0.443	T	0.44050	-0.9353	10	0.36615	T	0.2	-1.0638	7.2227	0.25997	0.0:0.0746:0.2719:0.6535	.	67;120	B4DLE5;P0C024	.;NUDT7_HUMAN	W	120;67	ENSP00000268533:L120W;ENSP00000387707:L67W	ENSP00000268533:L120W	L	+	2	0	NUDT7	76332990	0.985000	0.35326	0.002000	0.10522	0.052000	0.14988	2.774000	0.47694	0.287000	0.22375	0.533000	0.62120	TTG		0.408	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			
OR2W5	441932	broad.mit.edu	37	1	247655361	247655361	+	RNA	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:247655361G>A	ENST00000522351.1	+	0	992							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G311D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGAGAAAGGGGCTGGGGAGCC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											57.0	61.0	59.0					1																	247655361		2203	4300	6503			441932					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655361G>A			B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																					0.488	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1		NM_001004698	
OR4N2	390429	broad.mit.edu	37	14	20296164	20296164	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:20296164A>G	ENST00000315947.1	+	1	557	c.557A>G	c.(556-558)aAg>aGg	p.K186R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K186R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGTCATCAAGCTGGCCTGC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											144.0	147.0	146.0					14																	20296164		2203	4300	6503	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.557A>G	14.37:g.20296164A>G	ENSP00000319601:p.Lys186Arg		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.59	2.281567	0.40394	.	.	ENSG00000176294	ENST00000315947	T	0.00269	8.37	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.00210	0.0006	L	0.48362	1.52	0.27745	N	0.944354	B	0.23540	0.087	B	0.33799	0.17	T	0.26643	-1.0097	10	0.41790	T	0.15	-12.1393	12.081	0.53671	1.0:0.0:0.0:0.0	.	186	Q8NGD1	OR4N2_HUMAN	R	186	ENSP00000319601:K186R	ENSP00000319601:K186R	K	+	2	0	OR4N2	19366004	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	1.333000	0.33816	2.008000	0.58898	0.477000	0.44152	AAG		0.532	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			
OSGEP	55644	broad.mit.edu;ucsc.edu	37	14	20916148	20916148	+	Silent	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:20916148A>G	ENST00000206542.4	-	8	1129	c.708T>C	c.(706-708)acT>acC	p.T236T	OSGEP_ENST00000554249.1_Silent_p.T54T|OSGEP_ENST00000555656.1_Silent_p.T37T	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase									p.T236T(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TTGCAAACACAGTTTCCTGTC	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	118.0	116.0					14																	20916148		2203	4300	6503	SO:0001819	synonymous_variant	55644			AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.708T>C	14.37:g.20916148A>G				Silent	SNP	ENST00000206542.4	37	CCDS9549.1																																																																																				0.478	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3		NM_017807	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52584765	52584766	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	-	TT	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:52584765_52584766insTT	ENST00000296302.7	-	28	4678_4679	c.4677_4678insAA	c.(4675-4680)caacagfs	p.Q1560fs	PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Q1523fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Q1505fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Q1473fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Q1480fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Q1453fs|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Q1453fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Q1468fs			Q86U86	PB1_HUMAN	polybromo 1	1560	Pro-rich.		Q -> H (found in an endometrial cancer cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGGCTCACCTGTTGTCCATATG	0.48			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4676_4677dupAA	3.37:g.52584766_52584767dupTT	ENSP00000296302:p.Gln1560fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.480	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDPR	55066	broad.mit.edu	37	16	70180077	70180077	+	Silent	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:70180077T>C	ENST00000288050.4	+	16	2865	c.1908T>C	c.(1906-1908)tcT>tcC	p.S636S	PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000567046.1_5'UTR|PDPR_ENST00000568530.1_Silent_p.S636S|PDPR_ENST00000398122.3_Silent_p.S536S|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	636					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.S636S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATGTGCTGTCTGAGTTGTCCT	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	105.0	105.0					16																	70180077		1865	4107	5972	SO:0001819	synonymous_variant	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1908T>C	16.37:g.70180077T>C			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	CCDS45520.1																																																																																				0.473	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1		NM_017990	
PKN2	5586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89236126	89236126	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:89236126A>T	ENST00000370521.3	+	4	955	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	PKN2_ENST00000316005.7_Missense_Mutation_p.Q199L|PKN2_ENST00000370505.3_Missense_Mutation_p.Q42L|PKN2_ENST00000370513.5_Missense_Mutation_p.Q199L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	199					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.Q199L(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAGGCAGTCCAGACTAATGAA	0.408																																																	2	Substitution - Missense(2)	kidney(2)											138.0	134.0	135.0					1																	89236126		1906	4133	6039	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.596A>T	1.37:g.89236126A>T	ENSP00000359552:p.Gln199Leu		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620477	0.66787	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.35	5.35	0.76521	.	0.000000	0.42821	U	0.000641	T	0.39358	0.1075	M	0.88640	2.97	0.80722	D	1	B;B;B;B	0.15473	0.013;0.006;0.001;0.005	B;B;B;B	0.29862	0.108;0.03;0.006;0.01	T	0.49204	-0.8964	10	0.66056	D	0.02	.	15.6317	0.76917	1.0:0.0:0.0:0.0	.	199;199;199;199	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	L	199;199;42;199	ENSP00000359552:Q199L;ENSP00000317851:Q199L;ENSP00000359536:Q42L;ENSP00000359544:Q199L	ENSP00000317851:Q199L	Q	+	2	0	PKN2	89008714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.140000	0.66376	0.533000	0.62120	CAG		0.408	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3		NM_006256	
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161155095	161155095	+	Silent	SNP	C	C	T	rs113153850		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr6:161155095C>T	ENST00000308192.9	+	13	1719	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	552	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTTTACGACTACTGTG	0.443																																																	0								C		1,4405		0,1,2202	241.0	165.0	191.0		1656	-3.9	0.9	6	dbSNP_132	191	0,8600		0,0,4300	no	coding-synonymous	PLG	NM_000301.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		552/811	161155095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1656C>T	6.37:g.161155095C>T			Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																				0.443	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2		NM_000301	
PRUNE2	158471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79438564	79438565	+	Missense_Mutation	DNP	AC	AC	GG			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:79438564_79438565AC>GG	ENST00000376718.3	-	6	862_863	c.739_740GT>CC	c.(739-741)GTg>CCg	p.V247P	PRUNE2_ENST00000376713.3_Missense_Mutation_p.V247P|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	247					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.V247A(2)|p.V247L(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTCATGCTCACAGTACTAATG	0.391																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.739_740delinsGG	9.37:g.79438564_79438565delinsGG	ENSP00000365908:p.Val247Pro		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1																																																																																				0.391	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818	
PTPRR	5801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	71033004	71033004	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:71033004C>T	ENST00000283228.2	-	14	2386	c.1934G>A	c.(1933-1935)tGc>tAc	p.C645Y	PTPRR_ENST00000440835.2_Missense_Mutation_p.C400Y|PTPRB_ENST00000334414.6_5'Flank|PTPRR_ENST00000378778.1_Missense_Mutation_p.C439Y|PTPRB_ENST00000550358.1_5'Flank|PTPRR_ENST00000537619.2_5'UTR|PTPRB_ENST00000538174.2_5'Flank|PTPRR_ENST00000549308.1_Missense_Mutation_p.C400Y|PTPRR_ENST00000342084.4_Missense_Mutation_p.C533Y|PTPRB_ENST00000551525.1_5'Flank	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	645	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C645Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTCATACAGGCACAGAGCATG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											197.0	174.0	182.0					12																	71033004		2203	4300	6503	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1934G>A	12.37:g.71033004C>T	ENSP00000283228:p.Cys645Tyr		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621838	0.28889	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.77	5.77	0.91146	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.215616	0.31660	N	0.007268	T	0.36082	0.0954	N	0.25094	0.71	0.39547	D	0.968904	D;D;D	0.67145	0.987;0.995;0.996	B;P;P	0.53313	0.387;0.713;0.723	T	0.07347	-1.0777	10	0.41790	T	0.15	-3.5922	19.9946	0.97381	0.0:1.0:0.0:0.0	.	533;439;645	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	Y	400;645;439;533;400	ENSP00000391750:C400Y;ENSP00000283228:C645Y;ENSP00000368054:C439Y;ENSP00000339605:C533Y;ENSP00000446943:C400Y	ENSP00000283228:C645Y	C	-	2	0	PTPRR	69319271	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.048000	0.64238	2.728000	0.93425	0.591000	0.81541	TGC		0.423	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1		NM_002849	
PYGO1	26108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55838992	55838992	+	Silent	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr15:55838992A>G	ENST00000302000.6	-	3	583	c.489T>C	c.(487-489)aaT>aaC	p.N163N	PYGO1_ENST00000563719.1_Silent_p.N163N	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	163	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N163N(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GACTTAGTGCATTATTATAAG	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											114.0	116.0	115.0					15																	55838992		2193	4292	6485	SO:0001819	synonymous_variant	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.489T>C	15.37:g.55838992A>G			A7Y2D6	Silent	SNP	ENST00000302000.6	37	CCDS10155.1																																																																																				0.373	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2		NM_015617	
SERPINA10	51156	broad.mit.edu;ucsc.edu	37	14	94756558	94756560	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:94756558_94756560delTGA	ENST00000393096.1	-	2	836_838	c.371_373delTCA	c.(370-375)atcaag>aag	p.I124del	SERPINA10_ENST00000554723.1_In_Frame_Del_p.I164del|SERPINA10_ENST00000554173.1_In_Frame_Del_p.I124del|SERPINA10_ENST00000261994.4_In_Frame_Del_p.I124del	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	124					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)		AGCCCTCTCTTGATCTGGGTTTC	0.591																																																	0																																										SO:0001651	inframe_deletion	51156			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.371_373delTCA	14.37:g.94756558_94756560delTGA	ENSP00000376809:p.Ile124del		A5Z2A5|Q6UWX9|Q86U20	In_Frame_Del	DEL	ENST00000393096.1	37	CCDS9923.1																																																																																				0.591	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1		NM_016186	
SERPINA1	5265	broad.mit.edu;ucsc.edu	37	14	94844824	94844824	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:94844824G>C	ENST00000448921.1	-	7	1791	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	SERPINA1_ENST00000393087.4_Missense_Mutation_p.L407V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.L407V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.L407V|SERPINA1_ENST00000437397.1_Missense_Mutation_p.L407V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.L407V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.L407V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.L407V	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	407					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)	p.L407V(1)		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)		CCCATGAAGAGGGGAGACTTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											109.0	119.0	116.0					14																	94844824		2203	4300	6503	SO:0001583	missense	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1219C>G	14.37:g.94844824G>C	ENSP00000416066:p.Leu407Val		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339125	0.41398	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399	D;D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	4.37	2.36	0.29203	Serpin domain (3);	0.116909	0.37348	N	0.002138	D	0.94679	0.8284	M	0.89478	3.035	0.46203	D	0.998925	D	0.57899	0.981	P	0.61275	0.886	D	0.94911	0.8065	10	0.87932	D	0	.	11.8867	0.52606	0.0:0.0:0.6867:0.3133	.	407	P01009	A1AT_HUMAN	V	407	ENSP00000390299:L407V;ENSP00000416066:L407V;ENSP00000408474:L407V;ENSP00000348068:L407V;ENSP00000376802:L407V;ENSP00000376803:L407V;ENSP00000385960:L407V;ENSP00000416354:L407V	ENSP00000348068:L407V	L	-	1	0	SERPINA1	93914577	1.000000	0.71417	0.813000	0.32504	0.002000	0.02628	3.385000	0.52485	1.006000	0.39211	0.563000	0.77884	CTC		0.498	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2		NM_001002235	
SFMBT2	57713	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7217995	7217996	+	Missense_Mutation	DNP	TT	TT	AG			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr10:7217995_7217996TT>AG	ENST00000361972.4	-	17	2030_2031	c.1940_1941AA>CT	c.(1939-1941)gAA>gCT	p.E647A	SFMBT2_ENST00000397167.1_Missense_Mutation_p.E647A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	647					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.E647D(1)|p.E647A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGGCAGTTTTCAGATATCAG	0.426																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1940_1941delinsAG	10.37:g.7217995_7217996delinsAG	ENSP00000355109:p.Glu647Ala		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.426	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1		NM_001029880	
SLC16A4	9122	hgsc.bcm.edu;ucsc.edu	37	1	110921820	110921820	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:110921820A>T	ENST00000369779.4	-	6	934	c.685T>A	c.(685-687)Tgc>Agc	p.C229S	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Missense_Mutation_p.C181S|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000437429.2_Missense_Mutation_p.C119S|SLC16A4_ENST00000541986.1_Missense_Mutation_p.C167S	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	229					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GTCTCATGGCAGTGTGTTTCT	0.418																																																	0													214.0	198.0	203.0					1																	110921820		2203	4300	6503	SO:0001583	missense	9122			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.685T>A	1.37:g.110921820A>T	ENSP00000358794:p.Cys229Ser		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	a	3.671	-0.067471	0.07273	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986	T;T;T;T	0.22134	2.6;2.43;1.97;2.58	5.81	-3.59	0.04583	Major facilitator superfamily domain, general substrate transporter (1);	4.493540	0.00166	N	0.000000	T	0.04182	0.0116	L	0.49350	1.555	0.09310	N	1	B;B;B;B	0.13145	0.007;0.001;0.0;0.002	B;B;B;B	0.15484	0.013;0.009;0.007;0.005	T	0.20472	-1.0274	10	0.09084	T	0.74	.	1.2022	0.01887	0.348:0.3106:0.138:0.2034	.	119;167;181;229	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	S	229;181;119;167	ENSP00000358794:C229S;ENSP00000432495:C181S;ENSP00000394790:C119S;ENSP00000446087:C167S	ENSP00000358794:C229S	C	-	1	0	SLC16A4	110723343	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.164000	0.16542	-0.169000	0.10834	-0.340000	0.08031	TGC		0.418	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3		NM_004696	
SLC30A6	55676	broad.mit.edu	37	2	32422862	32422862	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr2:32422862C>T	ENST00000282587.5	+	10	669	c.632C>T	c.(631-633)gCt>gTt	p.A211V	SLC30A6_ENST00000379343.2_Missense_Mutation_p.A251V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.A211V|SLC30A6_ENST00000406369.1_Missense_Mutation_p.A137V|SLC30A6_ENST00000538303.1_Missense_Mutation_p.A182V|SLC30A6_ENST00000357055.3_Missense_Mutation_p.A14V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	211					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.A211V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGAGCATTTGCTCTTTGTATT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											144.0	135.0	138.0					2																	32422862		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.632C>T	2.37:g.32422862C>T	ENSP00000282587:p.Ala211Val		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317383	0.81469	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.9	5.9	0.94986	.	0.108799	0.64402	D	0.000006	T	0.55465	0.1922	N	0.13098	0.295	0.58432	D	0.999998	B;B;B;B	0.32283	0.118;0.313;0.171;0.362	B;B;B;B	0.40228	0.217;0.108;0.138;0.323	T	0.58940	-0.7547	10	0.66056	D	0.02	-8.8899	19.0482	0.93030	0.0:1.0:0.0:0.0	.	182;211;251;211	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	V	251;211;211;182;14;137	ENSP00000368648:A251V;ENSP00000282587:A211V;ENSP00000399005:A211V;ENSP00000440678:A182V;ENSP00000349563:A14V;ENSP00000384041:A137V	ENSP00000282587:A211V	A	+	2	0	SLC30A6	32276366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.126000	0.77201	2.808000	0.96608	0.650000	0.86243	GCT		0.348	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			
SPDYE4	388333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8658873	8658873	+	Silent	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr17:8658873C>T	ENST00000328794.6	-	4	626	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	150								p.S150S(1)		breast(1)|endometrium(2)|kidney(1)	4						GGTATTGCCACGAGAAGAGGC	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	86.0	91.0					17																	8658873		692	1591	2283	SO:0001819	synonymous_variant	388333			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.450G>A	17.37:g.8658873C>T			B2RUZ6	Silent	SNP	ENST00000328794.6	37	CCDS45609.1																																																																																				0.498	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1		NM_001128076	
SPTBN2	6712	broad.mit.edu	37	11	66463961	66463961	+	Silent	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr11:66463961C>A	ENST00000533211.1	-	21	4396	c.4065G>T	c.(4063-4065)tcG>tcT	p.S1355S	SPTBN2_ENST00000309996.2_Silent_p.S1355S|SPTBN2_ENST00000529997.1_Silent_p.S1355S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1355					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.S1355S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCAGCTTCTCCGACACCAGGG	0.572																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											99.0	109.0	106.0					11																	66463961		2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4065G>T	11.37:g.66463961C>A			O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																				0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946	
TAS2R50	259296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11138584	11138584	+	Silent	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:11138584C>T	ENST00000506868.1	-	1	927	c.876G>A	c.(874-876)ttG>ttA	p.L292L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	292					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L292L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GACACAAAATCAAAAGAAAGG	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	91.0	88.0					12																	11138584		2197	4299	6496	SO:0001819	synonymous_variant	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.876G>A	12.37:g.11138584C>T			P59545|Q2M255|Q645Y0	Silent	SNP	ENST00000506868.1	37	CCDS8638.1																																																																																				0.388	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2		NM_176890	
TAX1BP1	8887	hgsc.bcm.edu	37	7	27856058	27856059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr7:27856058_27856059insA	ENST00000396319.2	+	14	1943_1944	c.1855_1856insA	c.(1855-1857)caafs	p.Q619fs	TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Frame_Shift_Ins_p.Q643fs	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	619					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATGCTCAGAGCAAAATGGTTAT	0.361																																																	0																																										SO:0001589	frameshift_variant	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1859dupA	7.37:g.27856062_27856062dupA	ENSP00000379612:p.Gln619fs		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Frame_Shift_Ins	INS	ENST00000396319.2	37	CCDS5415.1																																																																																				0.361	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1		NM_006024	
EPHA1-AS1	285965	broad.mit.edu	37	7	143218162	143218163	+	RNA	INS	-	-	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr7:143218162_143218163insT	ENST00000429289.1	+	0	2638_2639					NR_033897.1				EPHA1 antisense RNA 1																		gtcagagtgactttttttttcc	0.381																																																	0																																												0			AL833583		7q35	2012-10-12	2012-08-15		ENSG00000229153	ENSG00000229153		"""Long non-coding RNAs"""	27799	non-coding RNA	RNA, long non-coding			"""EPHA1 antisense RNA 1 (non-protein coding)"""				Standard	NR_033897		Approved		uc003wda.4		OTTHUMG00000155893		7.37:g.143218171_143218171dupT				RNA	INS	ENST00000429289.1	37																																																																																					0.381	EPHA1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000342151.1		NR_033897	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191593	10191593	+	Nonsense_Mutation	SNP	A	A	T	rs281860296		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:10191593A>T	ENST00000256474.2	+	3	1426	c.586A>T	c.(586-588)Aaa>Taa	p.K196*	VHL_ENST00000345392.2_Nonsense_Mutation_p.K155*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	196					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.K196*(4)|p.K196fs*18(2)|p.K196fs*19(1)|p.P192fs*3(1)|p.N193fs*>16(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAATGTGCAGAAAGACCTGGA	0.498		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	9	Deletion - Frameshift(5)|Substitution - Nonsense(4)	kidney(9)											72.0	65.0	67.0					3																	10191593		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.586A>T	3.37:g.10191593A>T	ENSP00000256474:p.Lys196*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.940186	0.92526	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	4.97	0.65823	.	0.170647	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7872	12.9354	0.58311	1.0:0.0:0.0:0.0	.	.	.	.	X	196;155;114	.	ENSP00000256474:K196X	K	+	1	0	VHL	10166593	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	4.932000	0.63476	2.209000	0.71365	0.533000	0.62120	AAA		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WNK2	65268	broad.mit.edu;ucsc.edu	37	9	95997112	95997112	+	Silent	SNP	C	C	T	rs113308587		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:95997112C>T	ENST00000297954.4	+	4	1098	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.P366P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.P352P	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P366P(1)|p.P352P(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCATGGCGCCCGAGATGTACG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19693	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)						C		8,4398	14.3+/-33.2	0,8,2195	112.0	80.0	91.0		1098	-9.9	0.0	9	dbSNP_132	91	0,8600		0,0,4300	no	coding-synonymous	WNK2	NM_006648.3		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		366/2218	95997112	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1098C>T	9.37:g.95997112C>T			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.535	0.659491	0.14645	0.001816	0.0	ENSG00000165238	ENST00000432730	T	0.75154	-0.91	4.95	-9.91	0.00458	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79210	-0.1897	7	0.87932	D	0	.	5.0335	0.14423	0.2259:0.2043:0.0569:0.5129	.	.	.	.	L	362	ENSP00000415038:P362L	ENSP00000415038:P362L	P	+	2	0	WNK2	95036933	0.000000	0.05858	0.004000	0.12327	0.913000	0.54294	-4.626000	0.00206	-4.393000	0.00052	-1.099000	0.02127	CCG		0.622	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1		NM_006648	
WSB2	55884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	118481141	118481141	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:118481141T>A	ENST00000315436.3	-	3	365	c.224A>T	c.(223-225)aAt>aTt	p.N75I	WSB2_ENST00000441406.2_Missense_Mutation_p.N92I|WSB2_ENST00000535496.1_Missense_Mutation_p.N77I|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	75					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.N75I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCGTCTCATTTTTGCTACT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											127.0	134.0	132.0					12																	118481141		2203	4300	6503	SO:0001583	missense	55884			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.224A>T	12.37:g.118481141T>A	ENSP00000319474:p.Asn75Ile		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392352	0.42410	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.61980	0.3;0.32;0.34;0.06	5.24	1.58	0.23477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	2.134680	0.01201	N	0.007565	T	0.39253	0.1071	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.50541	-0.8816	10	0.25106	T	0.35	-8.2002	1.0966	0.01675	0.1324:0.1806:0.218:0.469	.	75	Q9NYS7	WSB2_HUMAN	I	75;92;77;77	ENSP00000319474:N75I;ENSP00000409131:N92I;ENSP00000439450:N77I;ENSP00000440386:N77I	ENSP00000319474:N75I	N	-	2	0	WSB2	116965524	0.816000	0.29132	1.000000	0.80357	0.990000	0.78478	0.956000	0.29202	0.475000	0.27415	0.529000	0.55759	AAT		0.517	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1		NM_018639	
WSB2	55884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	118481144	118481144	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:118481144T>A	ENST00000315436.3	-	3	362	c.221A>T	c.(220-222)aAa>aTa	p.K74I	WSB2_ENST00000441406.2_Missense_Mutation_p.K91I|WSB2_ENST00000535496.1_Missense_Mutation_p.K76I|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	74					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.K74I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTCTCATTTTTGCTACTTCG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											127.0	135.0	132.0					12																	118481144		2203	4300	6503	SO:0001583	missense	55884			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.221A>T	12.37:g.118481144T>A	ENSP00000319474:p.Lys74Ile		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058798	0.55325	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.62232	0.27;0.3;0.31;0.04	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	2.719140	0.00834	N	0.001689	T	0.55529	0.1926	N	0.22421	0.69	0.80722	D	1	B	0.30406	0.278	B	0.25405	0.06	T	0.13522	-1.0506	10	0.48119	T	0.1	-15.6347	14.3095	0.66407	0.0:0.0:0.0:1.0	.	74	Q9NYS7	WSB2_HUMAN	I	74;91;76;76	ENSP00000319474:K74I;ENSP00000409131:K91I;ENSP00000439450:K76I;ENSP00000440386:K76I	ENSP00000319474:K74I	K	-	2	0	WSB2	116965527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.414000	0.59802	2.206000	0.71126	0.529000	0.55759	AAA		0.512	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1		NM_018639	
ZBTB8B	728116	broad.mit.edu;ucsc.edu	37	1	32950945	32950945	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:32950945G>T	ENST00000609129.1	+	4	1492	c.1414G>T	c.(1414-1416)Gac>Tac	p.D472Y	RP1-27O5.3_ENST00000480336.1_Intron	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D472Y(1)		kidney(1)	1						TGAGGAAAATGACCCTGCTGG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											136.0	117.0	123.0					1																	32950945		692	1591	2283	SO:0001583	missense	728116			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.1414G>T	1.37:g.32950945G>T	ENSP00000476499:p.Asp472Tyr		Q15DG5|Q5VXR5|Q69YT7	Missense_Mutation	SNP	ENST00000609129.1	37	CCDS44104.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410144	0.83340	.	.	ENSG00000215897	ENST00000415091	T	0.12879	2.64	5.24	5.24	0.73138	.	.	.	.	.	T	0.20088	0.0483	L	0.29908	0.895	0.50171	D	0.999853	D	0.64830	0.994	P	0.53722	0.733	T	0.00651	-1.1626	8	.	.	.	.	18.6989	0.91613	0.0:0.0:1.0:0.0	.	472	Q8NAP8	ZBT8B_HUMAN	Y	472	ENSP00000400836:D472Y	.	D	+	1	0	ZBTB8B	32723532	1.000000	0.71417	0.860000	0.33809	0.863000	0.49368	5.448000	0.66612	2.832000	0.97577	0.655000	0.94253	GAC		0.473	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392986.2		NM_001145720	
ZMPSTE24	10269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40726535	40726535	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:40726535C>T	ENST00000372759.3	+	2	313	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	RP1-39G22.7_ENST00000567508.1_RNA|ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	50					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.H50Y(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AACAACAACTCATGTACCACC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											106.0	106.0	106.0					1																	40726535		2203	4300	6503	SO:0001583	missense	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.148C>T	1.37:g.40726535C>T	ENSP00000361845:p.His50Tyr		B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274667	0.59649	.	.	ENSG00000084073	ENST00000372759	T	0.00949	5.51	4.89	4.89	0.63831	.	0.151400	0.64402	D	0.000014	T	0.01421	0.0046	L	0.29908	0.895	0.58432	D	0.999994	B	0.15473	0.013	B	0.25987	0.065	T	0.65776	-0.6086	10	0.66056	D	0.02	-0.5415	18.4227	0.90597	0.0:1.0:0.0:0.0	.	50	O75844	FACE1_HUMAN	Y	50	ENSP00000361845:H50Y	ENSP00000361845:H50Y	H	+	1	0	ZMPSTE24	40499122	1.000000	0.71417	0.997000	0.53966	0.812000	0.45895	7.426000	0.80270	2.414000	0.81942	0.561000	0.74099	CAT		0.333	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			
ZNF100	163227	broad.mit.edu;hgsc.bcm.edu	37	19	21909967	21909967	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:21909967delA	ENST00000358296.6	-	5	1345	c.1147delT	c.(1147-1149)tacfs	p.Y383fs	ZNF100_ENST00000305570.6_Frame_Shift_Del_p.Y319fs	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GAGAATCGGTAAAAAGCTTTG	0.403																																																	0													52.0	57.0	56.0					19																	21909967		2188	4289	6477	SO:0001589	frameshift_variant	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1147delT	19.37:g.21909967delA	ENSP00000351042:p.Tyr383fs		Q7M4M0	Frame_Shift_Del	DEL	ENST00000358296.6	37	CCDS42538.1																																																																																				0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1		NM_173531	
ZNF287	57336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	16456102	16456102	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr17:16456102A>T	ENST00000395824.1	-	6	1971	c.1354T>A	c.(1354-1356)Tat>Aat	p.Y452N	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y452N			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	445					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y445N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCACACTTATAGGGTTTCTCT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											118.0	106.0	110.0					17																	16456102		2203	4300	6503	SO:0001583	missense	57336			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1354T>A	17.37:g.16456102A>T	ENSP00000379168:p.Tyr452Asn		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569378	0.65765	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.25749	1.78;1.78	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000170	T	0.50616	0.1626	M	0.75447	2.3	0.40551	D	0.981118	D	0.89917	1.0	D	0.83275	0.996	T	0.55995	-0.8052	10	0.87932	D	0	.	13.3294	0.60477	1.0:0.0:0.0:0.0	.	445	Q9HBT7	ZN287_HUMAN	N	452	ENSP00000379169:Y452N;ENSP00000379168:Y452N	ENSP00000379168:Y452N	Y	-	1	0	ZNF287	16396827	0.313000	0.24554	1.000000	0.80357	0.769000	0.43574	3.539000	0.53604	2.317000	0.78254	0.459000	0.35465	TAT		0.443	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			
ZNF831	128611	broad.mit.edu	37	20	57766859	57766860	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr20:57766859_57766860delGG	ENST00000371030.2	+	1	785_786	c.785_786delGG	c.(784-786)aggfs	p.R262fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	262							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGGATGTGAGGACCGAAGCTG	0.663																																																	0																																										SO:0001589	frameshift_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.785_786delGG	20.37:g.57766859_57766860delGG	ENSP00000360069:p.Arg262fs		Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	CCDS42894.1																																																																																				0.663	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457	
