#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
A4GNT	51146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	137843364	137843364	+	Silent	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr3:137843364T>C	ENST00000236709.3	-	3	966	c.765A>G	c.(763-765)ttA>ttG	p.L255L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	255					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.L255L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTTGGGGGTGTAAGAAGGATA	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	81.0	81.0					3																	137843364		2203	4300	6503	SO:0001819	synonymous_variant	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.765A>G	3.37:g.137843364T>C			Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	CCDS3097.1																																																																																				0.483	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1		NM_016161	
ADRBK1	156	broad.mit.edu	37	11	67034245	67034246	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:67034245_67034246delCG	ENST00000308595.5	+	1	365_366	c.75_76delCG	c.(73-78)gccgcgfs	p.AA25fs	ADRBK1_ENST00000526285.1_Frame_Shift_Del_p.AA25fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	25	N-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCACGCCGGCCGCGCGCGCCAG	0.757																																																	0																																										SO:0001589	frameshift_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.75_76delCG	11.37:g.67034251_67034252delCG	ENSP00000312262:p.Ala25fs		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	ENST00000308595.5	37	CCDS8156.1																																																																																				0.757	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1		NM_001619	
APOB	338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	21247881	21247881	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:21247881G>A	ENST00000233242.1	-	16	2487	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V	APOB_ENST00000399256.4_Missense_Mutation_p.A787V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	787					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A787V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGAGACTGGCAAAACCAAG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											86.0	90.0	89.0					2																	21247881		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2360C>T	2.37:g.21247881G>A	ENSP00000233242:p.Ala787Val		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747919	0.30955	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.19250	2.16;2.16	5.7	3.34	0.38264	Vitellinogen, open beta-sheet, subdomain 1 (1);Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.530218	0.16931	N	0.193641	T	0.05914	0.0154	N	0.00538	-1.39	0.24736	N	0.993069	B	0.06786	0.001	B	0.04013	0.001	T	0.36553	-0.9743	10	0.14656	T	0.56	.	11.6514	0.51290	0.9195:0.0:0.0805:0.0	.	787	P04114	APOB_HUMAN	V	787	ENSP00000233242:A787V;ENSP00000382200:A787V	ENSP00000233242:A787V	A	-	2	0	APOB	21101386	1.000000	0.71417	0.695000	0.30226	0.363000	0.29612	5.851000	0.69481	0.524000	0.28502	-0.140000	0.14226	GCC		0.547	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			
ATG13	9776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46691049	46691049	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:46691049A>G	ENST00000434074.1	+	16	2132	c.1443A>G	c.(1441-1443)atA>atG	p.I481M	ATG13_ENST00000524625.1_Missense_Mutation_p.I444M|ATG13_ENST00000312040.4_Missense_Mutation_p.I481M|ATG13_ENST00000528494.1_Missense_Mutation_p.I514M|ATG13_ENST00000359513.4_Missense_Mutation_p.I481M|ATG13_ENST00000529655.1_Missense_Mutation_p.I444M|ATG13_ENST00000530500.1_Missense_Mutation_p.I365M|ATG13_ENST00000526508.1_Missense_Mutation_p.I481M|ATG13_ENST00000451945.1_Missense_Mutation_p.I444M	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	481					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.I514M(1)|p.I444M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCCTCTCCATAGATATTGGAG	0.473																																																	2	Substitution - Missense(2)	kidney(2)											115.0	107.0	110.0					11																	46691049		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1443A>G	11.37:g.46691049A>G	ENSP00000400642:p.Ile481Met		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348867	0.61183	.	.	ENSG00000175224	ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494	.	.	.	5.59	-2.04	0.07343	.	0.095808	0.64402	D	0.000002	T	0.46268	0.1384	L	0.50333	1.59	0.40213	D	0.97764	B;P;P;P	0.50443	0.12;0.684;0.911;0.935	B;B;P;P	0.48738	0.053;0.219;0.491;0.588	T	0.47420	-0.9119	9	0.62326	D	0.03	-6.5666	6.5864	0.22622	0.3444:0.3488:0.0:0.3067	.	365;481;514;444	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	M	481;481;444;444;365;481;444;481;514	.	ENSP00000310321:I481M	I	+	3	3	ATG13	46647625	0.673000	0.27539	0.997000	0.53966	0.999000	0.98932	-0.193000	0.09573	0.026000	0.15269	0.533000	0.62120	ATA		0.473	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2		NM_014741	
PHF7	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443600	52443600	+	5'Flank	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr3:52443600T>G	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.E31A|BAP1_ENST00000296288.5_Missense_Mutation_p.E31A	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E31A(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTCGTAGATCTCCTCCACTTG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											218.0	227.0	224.0					3																	52443600		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443600T>G	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	32	5.141932	0.94560	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.83599	0.5289	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89325	0.3643	10	0.87932	D	0	-3.7767	14.6644	0.68896	0.0:0.0:0.0:1.0	.	31	Q92560	BAP1_HUMAN	A	31	ENSP00000417132:E31A;ENSP00000296288:E31A	ENSP00000296288:E31A	E	-	2	0	BAP1	52418640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	1.875000	0.54330	0.533000	0.62120	GAG		0.617	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
BRIP1	83990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	59853839	59853839	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:59853839C>A	ENST00000259008.2	-	14	2287	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.D674Y	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	674					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D674Y(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CCCACTTCATCTTGGAACTCA	0.423			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	2	Substitution - Missense(2)	kidney(2)											126.0	118.0	121.0					17																	59853839		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2020G>T	17.37:g.59853839C>A	ENSP00000259008:p.Asp674Tyr		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816728	0.50633	.	.	ENSG00000136492	ENST00000259008	T	0.71817	-0.6	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89787	0.3965	9	.	.	.	-21.1761	18.5507	0.91063	0.0:1.0:0.0:0.0	.	674;674	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Y	674	ENSP00000259008:D674Y	.	D	-	1	0	BRIP1	57208621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.002000	0.76304	2.623000	0.88846	0.655000	0.94253	GAT		0.423	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043	
LINC00518	221718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10430189	10430189	+	lincRNA	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr6:10430189G>A	ENST00000496285.1	-	0	846					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518									p.S100F(1)									ACAGGGCGGGGAAGCAGGGAG	0.468											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											148.0	152.0	151.0					6																	10430189		2203	4300	6503			0			BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430189G>A		664		RNA	SNP	ENST00000496285.1	37																																																																																					0.468	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1		NR_027793	
CCDC25	55246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27605739	27605739	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr8:27605739T>G	ENST00000356537.4	-	7	499	c.406A>C	c.(406-408)Acc>Ccc	p.T136P	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Missense_Mutation_p.T68P|CCDC25_ENST00000522915.1_Missense_Mutation_p.T68P	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	136						extracellular vesicular exosome (GO:0070062)		p.T136P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCGACTTTGGTCTTTTCTAAT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											122.0	118.0	119.0					8																	27605739		2203	4300	6503	SO:0001583	missense	55246			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.406A>C	8.37:g.27605739T>G	ENSP00000348933:p.Thr136Pro		Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772809	0.90108	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.93016	3.37	0.80722	D	1	D	0.56746	0.977	P	0.52031	0.688	D	0.84288	0.0498	9	0.87932	D	0	-8.3639	13.7503	0.62904	0.0:0.0:0.0:1.0	.	136	Q86WR0	CCD25_HUMAN	P	136;68;68	.	ENSP00000348933:T136P	T	-	1	0	CCDC25	27661658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.850000	0.75420	2.132000	0.65825	0.533000	0.62120	ACC		0.388	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1		NM_018246	
CGNL1	84952	broad.mit.edu	37	15	57732654	57732654	+	Missense_Mutation	SNP	A	A	G	rs371292908		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr15:57732654A>G	ENST00000281282.5	+	3	1760	c.1682A>G	c.(1681-1683)aAt>aGt	p.N561S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	561						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.N561S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATTCTCTACAATTACCTCAAA	0.443																																																	1	Substitution - Missense(1)	kidney(1)						A	SER/ASN	0,4384		0,0,2192	72.0	65.0	67.0		1682	4.8	1.0	15		67	1,8583	1.2+/-3.3	0,1,4291	no	missense	CGNL1	NM_032866.3	46	0,1,6483	GG,GA,AA		0.0116,0.0,0.0077	benign	561/1303	57732654	1,12967	2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1682A>G	15.37:g.57732654A>G	ENSP00000281282:p.Asn561Ser		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798058	0.31777	0.0	1.16E-4	ENSG00000128849	ENST00000281282	T	0.37584	1.19	4.81	4.81	0.61882	.	0.000000	0.51477	D	0.000089	T	0.30293	0.0760	L	0.41632	1.29	0.37198	D	0.904249	B	0.29988	0.264	B	0.26864	0.074	T	0.25847	-1.0120	10	0.36615	T	0.2	-30.5682	14.3915	0.66983	1.0:0.0:0.0:0.0	.	561	Q0VF96	CGNL1_HUMAN	S	561	ENSP00000281282:N561S	ENSP00000281282:N561S	N	+	2	0	CGNL1	55519946	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.111000	0.57838	1.791000	0.52520	0.460000	0.39030	AAT		0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		NM_032866	
DAND5	199699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13080675	13080675	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:13080675G>C	ENST00000317060.2	+	1	380	c.201G>C	c.(199-201)caG>caC	p.Q67H	DAND5_ENST00000585548.1_Missense_Mutation_p.Q97H	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	67					atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.Q67H(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			TGGGCCTGCAGAAAGCCAGGC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											58.0	59.0	59.0					19																	13080675		2203	4300	6503	SO:0001583	missense	199699			AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.201G>C	19.37:g.13080675G>C	ENSP00000323155:p.Gln67His			Missense_Mutation	SNP	ENST00000317060.2	37	CCDS12291.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152512	0.78001	.	.	ENSG00000179284	ENST00000317060	T	0.35605	1.3	4.24	-3.02	0.05446	.	0.000000	0.43416	D	0.000562	T	0.17619	0.0423	L	0.34521	1.04	0.23293	N	0.997968	P	0.36010	0.532	B	0.29267	0.1	T	0.10636	-1.0621	10	0.44086	T	0.13	-9.3451	5.3404	0.15981	0.415:0.1483:0.4367:0.0	.	67	Q8N907	DAND5_HUMAN	H	67	ENSP00000323155:Q67H	ENSP00000323155:Q67H	Q	+	3	2	DAND5	12941675	0.474000	0.25886	0.581000	0.28614	0.880000	0.50808	0.139000	0.16036	-0.318000	0.08665	0.462000	0.41574	CAG		0.662	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1		NM_152654	
DCAF7	10238	broad.mit.edu	37	17	61628100	61628100	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:61628100C>T	ENST00000310827.4	+	1	279	c.62C>T	c.(61-63)gCg>gTg	p.A21V	DCAF7_ENST00000415273.2_Missense_Mutation_p.A21V|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Missense_Mutation_p.A21V	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	21					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.A21V(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						ACAGTCTACGCGATGAACTGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											64.0	70.0	68.0					17																	61628100		2000	4162	6162	SO:0001583	missense	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.62C>T	17.37:g.61628100C>T	ENSP00000308344:p.Ala21Val		B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37		.	.	.	.	.	.	.	.	.	.	C	36	5.945832	0.97134	.	.	ENSG00000136485	ENST00000310827;ENST00000431926;ENST00000415273	T;T;T	0.66460	-0.21;-0.16;1.47	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.88450	2.955	0.80722	D	1	D;P	0.53312	0.959;0.927	P;B	0.45971	0.499;0.382	D	0.83462	0.0054	10	0.87932	D	0	-25.5848	19.6415	0.95760	0.0:1.0:0.0:0.0	.	21;21	B4E039;P61962	.;DCAF7_HUMAN	V	21	ENSP00000308344:A21V;ENSP00000402312:A21V;ENSP00000403920:A21V	ENSP00000308344:A21V	A	+	2	0	DCAF7	58981832	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.214000	0.77958	2.651000	0.90000	0.561000	0.74099	GCG		0.627	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005828	
DCAF8	50717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160209814	160209814	+	Silent	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:160209814A>G	ENST00000368073.3	-	4	830	c.396T>C	c.(394-396)gaT>gaC	p.D132D	DCAF8_ENST00000326837.2_Silent_p.D132D|DCAF8_ENST00000610139.1_Silent_p.D132D|DCAF8_ENST00000475733.1_Silent_p.D132D|DCAF8_ENST00000608310.1_Silent_p.D286D|DCAF8_ENST00000556710.1_Silent_p.D286D|DCAF8_ENST00000368074.1_Silent_p.D132D			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	132					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D286D(1)|p.D132D(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGGCCCGCTCATCATCTGATG	0.612																																																	2	Substitution - coding silent(2)	kidney(2)											53.0	53.0	53.0					1																	160209814		2203	4300	6503	SO:0001819	synonymous_variant	50717			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.396T>C	1.37:g.160209814A>G			D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Silent	SNP	ENST00000368073.3	37	CCDS1200.1																																																																																				0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2		NM_015726	
DGCR6L	85359	broad.mit.edu	37	22	20307319	20307319	+	Silent	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr22:20307319A>G	ENST00000248879.3	-	2	205	c.114T>C	c.(112-114)tcT>tcC	p.S38S	XXbac-B444P24.13_ENST00000608275.1_RNA|DGCR6L_ENST00000405465.3_Intron|XXbac-B444P24.14_ENST00000609632.1_lincRNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	38						nucleus (GO:0005634)		p.S38S(1)		endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					GCTGCTGGAAAGAGCTGCGGG	0.697																																																	1	Substitution - coding silent(1)	kidney(1)											22.0	22.0	22.0					22																	20307319		2201	4300	6501	SO:0001819	synonymous_variant	85359			AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.114T>C	22.37:g.20307319A>G			A8K1N7|B3KMC0|D3DX29|Q9BW33	Silent	SNP	ENST00000248879.3	37	CCDS13778.1																																																																																				0.697	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318970.3		NM_033257	
DYRK3	8444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	206822277	206822277	+	Silent	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:206822277C>T	ENST00000367109.2	+	3	1902	c.1734C>T	c.(1732-1734)ccC>ccT	p.P578P	DYRK3_ENST00000367108.3_Silent_p.P558P|DYRK3_ENST00000367106.1_Silent_p.P558P|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	578					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.P578P(1)|p.P543P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTAGTATACCCCTATGCAGTG	0.398																																					Melanoma(164;427 2622 26826 51707)												2	Substitution - coding silent(2)	kidney(2)											97.0	94.0	95.0					1																	206822277		2203	4300	6503	SO:0001819	synonymous_variant	8444			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1734C>T	1.37:g.206822277C>T			D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	37	CCDS30999.1																																																																																				0.398	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1		NM_003582	
EP400	57634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132497632	132497632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr12:132497632C>T	ENST00000333577.4	+	18	3737	c.3628C>T	c.(3628-3630)Cga>Tga	p.R1210*	EP400_ENST00000330386.6_Nonsense_Mutation_p.R1174*|EP400_ENST00000389561.2_Nonsense_Mutation_p.R1174*|EP400_ENST00000389562.2_Nonsense_Mutation_p.R1173*|EP400_ENST00000332482.4_Nonsense_Mutation_p.R1137*			Q96L91	EP400_HUMAN	E1A binding protein p400	1210	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1173*(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGCCTTCACACGAGTGCGCTG	0.597																																																	1	Substitution - Nonsense(1)	kidney(1)											103.0	77.0	86.0					12																	132497632		2203	4300	6503	SO:0001587	stop_gained	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3628C>T	12.37:g.132497632C>T	ENSP00000333602:p.Arg1210*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	38	6.913674	0.97932	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	.	.	.	5.27	0.139	0.14798	.	0.285191	0.37136	N	0.002228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1216	0.42623	0.717:0.2009:0.0:0.0822	.	.	.	.	X	1210;1174;1173;1137;1174;1174;1174	.	ENSP00000330620:R1174X	R	+	1	2	EP400	131063585	1.000000	0.71417	0.000000	0.03702	0.058000	0.15608	3.830000	0.55768	-0.183000	0.10585	0.549000	0.68633	CGA		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409	
FOXD4	2298	hgsc.bcm.edu	37	9	116848	116849	+	Frame_Shift_Ins	INS	-	-	A	rs532235124	byFrequency	TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr9:116848_116849insA	ENST00000382500.2	-	1	1568_1569	c.1271_1272insT	c.(1270-1272)ttafs	p.L424fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	424					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGGCGATACTAAAAAAACTGG	0.688													|||unknown(NO_COVERAGE)	132	0.0263578	0.0628	0.0086	5008	,	,		18398	0.004		0.0	False		,,,				2504	0.0399																0										182,3900		16,150,1875						2.4	0.0			17	3,8017		0,3,4007	no	frameshift	FOXD4	NM_207305.3		16,153,5882	A1A1,A1R,RR		0.0374,4.4586,1.5287				185,11917				SO:0001589	frameshift_variant	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.1272dupT	9.37:g.116855_116855dupA	ENSP00000371940:p.Leu424fs		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	CCDS34975.1																																																																																				0.688	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1		NM_207305	
FOXK2	3607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80477948	80477948	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:80477948C>A	ENST00000335255.5	+	1	358	c.184C>A	c.(184-186)Cag>Aag	p.Q62K		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	62	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q62K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CAACTCGTCGCAGGGCTCGGT	0.731																																																	1	Substitution - Missense(1)	kidney(1)											30.0	35.0	33.0					17																	80477948		2183	4270	6453	SO:0001583	missense	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.184C>A	17.37:g.80477948C>A	ENSP00000335677:p.Gln62Lys		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	CCDS11813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.78|13.78	2.340255|2.340255	0.41398|0.41398	.|.	.|.	ENSG00000141568|ENSG00000141568	ENST00000535184|ENST00000335255;ENST00000335241	.|D	.|0.92752	.|-3.1	3.62|3.62	3.62|3.62	0.41486|0.41486	.|Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	.|0.000000	.|0.64402	.|U	.|0.000004	D|D	0.86410|0.86410	0.5926|0.5926	L|L	0.33245|0.33245	0.995|0.995	0.52099|0.52099	D|D	0.999947|0.999947	.|B;B;B	.|0.32968	.|0.178;0.392;0.104	.|B;B;B	.|0.33960	.|0.108;0.173;0.155	D|D	0.83394|0.83394	0.0019|0.0019	6|10	0.72032|0.12103	D|T	0.01|0.63	.|.	15.5487|15.5487	0.76129|0.76129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|62;62;62	.|Q01167-3;Q01167;Q01167-2	.|.;FOXK2_HUMAN;.	E|K	58|62	.|ENSP00000335677:Q62K	ENSP00000443080:A58E|ENSP00000334321:Q62K	A|Q	+|+	2|1	0|0	FOXK2|FOXK2	78071237|78071237	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.023000|0.023000	0.10783|0.10783	5.450000|5.450000	0.66626|0.66626	1.893000|1.893000	0.54813|0.54813	0.536000|0.536000	0.68110|0.68110	GCA|CAG		0.731	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2		NM_181430	
GEMIN7	79760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45593483	45593483	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:45593483G>T	ENST00000270257.4	+	3	358	c.111G>T	c.(109-111)gaG>gaT	p.E37D	CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.E37D|CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000591747.1_Missense_Mutation_p.E37D|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.E37D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	37					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.E37D(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TGAGGCCAGAGGTTCCTGAAA	0.647																																																	1	Substitution - Missense(1)	kidney(1)											53.0	55.0	54.0					19																	45593483		2203	4300	6503	SO:0001583	missense	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.111G>T	19.37:g.45593483G>T	ENSP00000270257:p.Glu37Asp		Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361730	0.24684	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.64	-7.61	0.01299	.	0.619653	0.15546	N	0.256674	T	0.30324	0.0761	L	0.51422	1.61	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18935	-1.0321	9	0.27785	T	0.31	-22.4609	7.3615	0.26750	0.2684:0.4449:0.2867:0.0	.	37	Q9H840	GEMI7_HUMAN	D	37	.	ENSP00000270257:E37D	E	+	3	2	GEMIN7	50285323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.610000	0.02064	-0.765000	0.04645	-0.314000	0.08810	GAG		0.647	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			
GPR180	160897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95257668	95257668	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr13:95257668A>G	ENST00000376958.4	+	2	194	c.169A>G	c.(169-171)Aga>Gga	p.R57G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	57					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R57G(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCTGTGTGTCAGAATCAACAA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											147.0	129.0	135.0					13																	95257668		2203	4300	6503	SO:0001583	missense	160897			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.169A>G	13.37:g.95257668A>G	ENSP00000366157:p.Arg57Gly		A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179583	0.57800	.	.	ENSG00000152749	ENST00000376958	T	0.52526	0.66	5.75	3.24	0.37175	.	0.048646	0.85682	D	0.000000	T	0.42539	0.1207	M	0.62723	1.935	0.41256	D	0.986748	P	0.44734	0.842	B	0.36922	0.236	T	0.37150	-0.9718	10	0.45353	T	0.12	-17.5117	12.6855	0.56946	0.7395:0.2605:0.0:0.0	.	57	Q86V85	GP180_HUMAN	G	57	ENSP00000366157:R57G	ENSP00000366157:R57G	R	+	1	2	GPR180	94055669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.002000	0.57053	0.408000	0.25621	0.528000	0.53228	AGA		0.408	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3		NM_180989	
HADH	3033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	108935617	108935617	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr4:108935617A>G	ENST00000309522.3	+	3	441	c.292A>G	c.(292-294)Agc>Ggc	p.S98G	HADH_ENST00000505878.1_Missense_Mutation_p.S102G|HADH_ENST00000454409.2_Missense_Mutation_p.S102G|HADH_ENST00000403312.1_Missense_Mutation_p.S157G|HADH_ENST00000603302.1_Missense_Mutation_p.S98G	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	427					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.S98G(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GAAGACCCTGAGCACCATAGC	0.512																																																	2	Substitution - Missense(2)	kidney(2)											152.0	141.0	145.0					4																	108935617		2203	4300	6503	SO:0001583	missense	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.292A>G	4.37:g.108935617A>G	ENSP00000312288:p.Ser98Gly		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	A	6.708	0.499272	0.12762	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.75477	-0.94;-0.94;-0.94	5.84	3.22	0.36961	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.658987	0.17780	N	0.162291	T	0.48314	0.1493	N	0.11870	0.19	0.26746	N	0.970298	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.30504	-0.9976	10	0.07644	T	0.81	-9.9206	5.4183	0.16386	0.6202:0.1341:0.2457:0.0	.	157;102;98	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	G	98;98;102;102	ENSP00000312288:S98G;ENSP00000425952:S102G;ENSP00000395167:S102G	ENSP00000312288:S98G	S	+	1	0	HADH	109155066	1.000000	0.71417	0.997000	0.53966	0.056000	0.15407	3.286000	0.51724	0.903000	0.36546	0.533000	0.62120	AGC		0.512	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2		NM_005327	
HAT1	8520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	172821890	172821890	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:172821890T>G	ENST00000264108.4	+	5	377	c.341T>G	c.(340-342)aTc>aGc	p.I114S	HAT1_ENST00000392584.1_Missense_Mutation_p.I29S|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	114					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.I114S(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATTAGACAAATCATTCCACCT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											64.0	62.0	63.0					2																	172821890		2203	4300	6503	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.341T>G	2.37:g.172821890T>G	ENSP00000264108:p.Ile114Ser		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749472	0.49257	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.86	5.86	0.93980	Histone acetyl transferase HAT1 N-terminal (2);Acyl-CoA N-acyltransferase (1);	0.042962	0.85682	D	0.000000	T	0.57533	0.2060	L	0.43646	1.37	0.58432	D	0.999999	P	0.51537	0.946	P	0.46299	0.511	T	0.62760	-0.6786	9	0.87932	D	0	-18.5036	16.2535	0.82498	0.0:0.0:0.0:1.0	.	114	O14929	HAT1_HUMAN	S	29;114	.	ENSP00000264108:I114S	I	+	2	0	HAT1	172530136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.353000	0.79414	2.246000	0.74042	0.482000	0.46254	ATC		0.318	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1		NM_003642	
HPS4	89781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26860453	26860453	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr22:26860453T>G	ENST00000398145.2	-	11	1759	c.1143A>C	c.(1141-1143)gaA>gaC	p.E381D	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.E381D|HPS4_ENST00000402105.3_Missense_Mutation_p.E376D|HPS4_ENST00000398141.1_Missense_Mutation_p.E394D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	381					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.E394D(1)|p.E381D(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGAGGCCATTTCCACTTCCT	0.537									Hermansky-Pudlak syndrome																																								2	Substitution - Missense(2)	kidney(2)											77.0	72.0	74.0					22																	26860453		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1143A>C	22.37:g.26860453T>G	ENSP00000381213:p.Glu381Asp		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	T	1.439	-0.568038	0.03910	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.59638	1.31;1.3;1.31;1.31;0.25	3.91	-0.986	0.10252	.	1.148870	0.06506	N	0.737127	T	0.36908	0.0984	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.002;0.002;0.002;0.003;0.001;0.002	T	0.14392	-1.0474	10	0.15499	T	0.54	0.4447	4.5231	0.11969	0.0:0.2149:0.3233:0.4618	.	381;381;381;381;394;376	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	381;394;376;381;399;399	ENSP00000381213:E381D;ENSP00000381210:E394D;ENSP00000384185:E376D;ENSP00000338457:E381D;ENSP00000415081:E399D	ENSP00000325840:E399D	E	-	3	2	HPS4	25190453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.430000	0.06973	-0.478000	0.06823	-2.941000	0.00086	GAA		0.537	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1		NM_022081	
IFIT2	3433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91065757	91065757	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:91065757A>C	ENST00000371826.3	+	2	213	c.44A>C	c.(43-45)cAa>cCa	p.Q15P	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	15					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.Q15P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGCCTACGGCAACTAAAATGC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											88.0	87.0	87.0					10																	91065757		1870	4109	5979	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.44A>C	10.37:g.91065757A>C	ENSP00000360891:p.Gln15Pro		Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281122	0.40394	.	.	ENSG00000119922	ENST00000371826	T	0.58652	0.32	4.58	2.27	0.28462	.	0.176337	0.37761	U	0.001952	T	0.60945	0.2308	M	0.83118	2.625	0.35963	D	0.834776	P	0.45396	0.857	P	0.44477	0.451	T	0.70536	-0.4845	10	0.87932	D	0	-4.9375	8.7998	0.34901	0.8431:0.0:0.1569:0.0	.	15	P09913	IFIT2_HUMAN	P	15	ENSP00000360891:Q15P	ENSP00000360891:Q15P	Q	+	2	0	IFIT2	91055737	0.322000	0.24634	0.172000	0.22920	0.962000	0.63368	2.605000	0.46283	0.516000	0.28340	0.533000	0.62120	CAA		0.403	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1		NM_001547	
IL19	29949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	206972280	206972280	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:206972280C>G	ENST00000340758.2	+	1	66	c.41C>G	c.(40-42)tCc>tGc	p.S14C		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.S14C(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTGCGTGTTCCTTACCACTC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											187.0	151.0	163.0					1																	206972280		2203	4300	6503	SO:0001583	missense	29949			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.41C>G	1.37:g.206972280C>G	ENSP00000343000:p.Ser14Cys		B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000340758.2	37	CCDS1468.1	.	.	.	.	.	.	.	.	.	.	C	9.985	1.229275	0.22542	.	.	ENSG00000142224	ENST00000340758	T	0.37058	1.22	3.98	3.07	0.35406	.	.	.	.	.	T	0.31513	0.0799	N	0.08118	0	0.19300	N	0.999978	D	0.71674	0.998	P	0.58520	0.84	T	0.08493	-1.0719	9	0.87932	D	0	.	7.7306	0.28786	0.0:0.8862:0.0:0.1138	.	14	Q5VUT3	.	C	14	ENSP00000343000:S14C	ENSP00000343000:S14C	S	+	2	0	IL19	205038903	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	-0.041000	0.12084	1.267000	0.44247	0.655000	0.94253	TCC		0.507	IL19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088566.3		NM_153758	
KDM4E	390245	broad.mit.edu	37	11	94759338	94759338	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:94759338C>A	ENST00000450979.2	+	1	917	c.617C>A	c.(616-618)cCc>cAc	p.P206H		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	206	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.P206H(2)		breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TTTGGGGAGCCCAAAACTTGG	0.562																																																	2	Substitution - Missense(2)	kidney(2)											59.0	61.0	60.0					11																	94759338		692	1591	2283	SO:0001583	missense	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.617C>A	11.37:g.94759338C>A	ENSP00000397239:p.Pro206His			Missense_Mutation	SNP	ENST00000450979.2	37	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	13.37	2.216625	0.39201	.	.	ENSG00000235268	ENST00000450979	T	0.72394	-0.65	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	D	0.86401	0.5924	H	0.94264	3.515	0.39998	D	0.975123	D	0.89917	1.0	D	0.91635	0.999	D	0.88729	0.3235	9	0.87932	D	0	-23.6261	10.4356	0.44433	0.0:1.0:0.0:0.0	.	206	B2RXH2	KD4DL_HUMAN	H	206	ENSP00000397239:P206H	ENSP00000397239:P206H	P	+	2	0	KDM4DL	94398986	1.000000	0.71417	0.929000	0.37066	0.183000	0.23260	6.774000	0.75012	1.543000	0.49345	0.455000	0.32223	CCC		0.562	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1		NM_001161630	
LHFPL1	340596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	111914248	111914248	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chrX:111914248T>A	ENST00000371968.3	-	2	610	c.371A>T	c.(370-372)cAg>cTg	p.Q124L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.Q124L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	124						integral component of membrane (GO:0016021)		p.Q124L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TCCAACAAACTGCGCTGCTCC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											84.0	63.0	70.0					X																	111914248		2203	4300	6503	SO:0001583	missense	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.371A>T	X.37:g.111914248T>A	ENSP00000361036:p.Gln124Leu		A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409288	0.25378	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.78003	-1.14;-1.14	5.09	5.09	0.68999	.	0.054545	0.85682	D	0.000000	T	0.79992	0.4542	M	0.87758	2.905	0.80722	D	1	B;P	0.37914	0.299;0.611	B;B	0.37267	0.158;0.245	T	0.82841	-0.0258	10	0.66056	D	0.02	-22.9254	11.7025	0.51579	0.0:0.0:0.0:1.0	.	124;124	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	L	124	ENSP00000361036:Q124L;ENSP00000444573:Q124L	ENSP00000361036:Q124L	Q	-	2	0	LHFPL1	111800904	1.000000	0.71417	0.574000	0.28523	0.336000	0.28762	7.525000	0.81892	1.891000	0.54761	0.486000	0.48141	CAG		0.572	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1		NM_178175	
LRP2	4036	broad.mit.edu	37	2	170136059	170136059	+	Missense_Mutation	SNP	T	T	C	rs202154723		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:170136059T>C	ENST00000263816.3	-	12	1673	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	LRP2_ENST00000443831.1_Missense_Mutation_p.N463S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	463					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.N463S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AACAGAAACATTGAGAACCTC	0.348																																																	1	Substitution - Missense(1)	kidney(1)						T	SER/ASN	0,4406		0,0,2203	67.0	71.0	70.0		1388	5.3	1.0	2		70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRP2	NM_004525.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	benign	463/4656	170136059	3,13003	2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1388A>G	2.37:g.170136059T>C	ENSP00000263816:p.Asn463Ser		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894849	0.33442	0.0	3.49E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94417	-3.42;-3.42	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);	0.093691	0.64402	D	0.000001	D	0.90273	0.6958	N	0.05383	-0.06	0.44373	D	0.997277	D;D	0.64830	0.994;0.962	P;B	0.51101	0.659;0.416	D	0.89895	0.4040	9	.	.	.	.	15.305	0.73985	0.0:0.0:0.0:1.0	.	463;463	E9PC35;P98164	.;LRP2_HUMAN	S	463	ENSP00000263816:N463S;ENSP00000409813:N463S	.	N	-	2	0	LRP2	169844305	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	3.966000	0.56795	2.024000	0.59613	0.528000	0.53228	AAT		0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
LRP4	4038	broad.mit.edu;hgsc.bcm.edu	37	11	46880582	46880582	+	Silent	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:46880582G>A	ENST00000378623.1	-	38	5912	c.5670C>T	c.(5668-5670)gaC>gaT	p.D1890D	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1890					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D1890D(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCAGCCCGTGTCTGGCAGAG	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	65.0	71.0					11																	46880582		2201	4299	6500	SO:0001819	synonymous_variant	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5670C>T	11.37:g.46880582G>A			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334	
MFSD2A	84879	broad.mit.edu;hgsc.bcm.edu	37	1	40434358	40434358	+	Silent	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:40434358A>G	ENST00000372809.5	+	13	1652	c.1509A>G	c.(1507-1509)aaA>aaG	p.K503K	MFSD2A_ENST00000372811.5_Silent_p.K490K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.K334K	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	503					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.K490K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGCTCTTCAAAATGTACCCCA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	89.0	90.0					1																	40434358		2203	4300	6503	SO:0001819	synonymous_variant	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1509A>G	1.37:g.40434358A>G			A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	CCDS44118.1																																																																																				0.587	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1		NM_032793	
MMP1	4312	broad.mit.edu;hgsc.bcm.edu	37	11	102668828	102668828	+	5'UTR	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:102668828G>A	ENST00000315274.6	-	0	63				WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GTGCATACTGGCCTTTGTCTT	0.512																																																	0													54.0	47.0	49.0					11																	102668828		2203	4299	6502	SO:0001623	5_prime_UTR_variant	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.-5C>T	11.37:g.102668828G>A			P08156	Splice_Site	SNP	ENST00000315274.6	37	CCDS8322.1																																																																																				0.512	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1		NM_002421	
MUC4	4585	broad.mit.edu	37	3	195515102	195515102	+	Missense_Mutation	SNP	G	G	C	rs199995135		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr3:195515102G>C	ENST00000463781.3	-	2	3808	c.3349C>G	c.(3349-3351)Cac>Gac	p.H1117D	MUC4_ENST00000475231.1_Missense_Mutation_p.H1117D|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	556					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.H1117D(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)		GGGGTGGTGTGACCTGTGGAT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											14.0	8.0	9.0					3																	195515102		671	1542	2213	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.3349C>G	3.37:g.195515102G>C	ENSP00000417498:p.His1117Asp		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	.	.	.	.	.	.	.	.	.	.	-	0.907	-0.720205	0.03182	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.44	0.814	-1.63	0.08345	.	.	.	.	.	T	0.14270	0.0345	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.21546	0.035	T	0.28170	-1.0052	8	.	.	.	.	0.2358	0.00186	0.3536:0.2031:0.2397:0.2036	.	1117	E7ESK3	.	D	1117	ENSP00000417498:H1117D;ENSP00000420243:H1117D	.	H	-	1	0	MUC4	196999497	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-2.660000	0.00851	-2.057000	0.00897	0.064000	0.15345	CAC		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYH13	8735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10247205	10247205	+	Silent	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:10247205G>T	ENST00000418404.3	-	15	1969	c.1806C>A	c.(1804-1806)ccC>ccA	p.P602P	MYH13_ENST00000252172.4_Silent_p.P602P|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	602	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P602P(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCGTTCAGGGGGTCCTTGT	0.537																																																	2	Substitution - coding silent(2)	kidney(2)											83.0	80.0	81.0					17																	10247205		2203	4300	6503	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1806C>A	17.37:g.10247205G>T			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802	
KAT7	11143	broad.mit.edu	37	17	47899078	47899078	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:47899078G>C	ENST00000259021.4	+	11	1592	c.1312G>C	c.(1312-1314)Gtg>Ctg	p.V438L	KAT7_ENST00000503935.2_Missense_Mutation_p.V282L|KAT7_ENST00000510819.1_Missense_Mutation_p.V269L|KAT7_ENST00000454930.2_Missense_Mutation_p.V299L|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.V408L|KAT7_ENST00000435742.2_Missense_Mutation_p.V252L|KAT7_ENST00000509773.1_Missense_Mutation_p.V328L	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	438	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V438L(1)									ATATTATGATGTGGAGCCCTT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											111.0	104.0	106.0					17																	47899078		2203	4298	6501	SO:0001583	missense	0			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1312G>C	17.37:g.47899078G>C	ENSP00000259021:p.Val438Leu		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126759	0.94429	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.996;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.993;0.972;0.988;0.995;0.995;0.988	D	0.87291	0.2299	9	0.87932	D	0	-12.7725	17.7601	0.88462	0.0:0.0:1.0:0.0	.	401;269;328;299;438;408	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	L	438;299;328;269;408;282;252	.	ENSP00000259021:V438L	V	+	1	0	KAT7	45254077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.511000	0.84671	0.563000	0.77884	GTG		0.448	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1		NM_007067	
NES	10763	broad.mit.edu	37	1	156646329	156646329	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:156646329T>A	ENST00000368223.3	-	1	860	c.728A>T	c.(727-729)gAa>gTa	p.E243V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	243	Coil 2B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.E243V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAACCTCTGTTCCAACGCTGC	0.692																																																	1	Substitution - Missense(1)	kidney(1)											11.0	13.0	12.0					1																	156646329		2195	4296	6491	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.728A>T	1.37:g.156646329T>A	ENSP00000357206:p.Glu243Val		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697720	0.88830	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	T	0.20738	2.05	4.32	4.32	0.51571	Filament (1);	0.000000	0.34906	N	0.003588	T	0.38134	0.1029	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40534	-0.9558	10	0.87932	D	0	.	12.4566	0.55708	0.0:0.0:0.0:1.0	.	243	P48681	NEST_HUMAN	V	243	ENSP00000357206:E243V	ENSP00000255024:E243V	E	-	2	0	NES	154912953	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.734000	0.55037	1.821000	0.53095	0.374000	0.22700	GAA		0.692	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617	
NMT2	9397	broad.mit.edu;hgsc.bcm.edu	37	10	15161511	15161511	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:15161511A>T	ENST00000378165.4	-	9	1081	c.1001T>A	c.(1000-1002)gTt>gAt	p.V334D	NMT2_ENST00000535341.1_Splice_Site_p.V321D|NMT2_ENST00000540259.1_Splice_Site_p.V146D|NMT2_ENST00000378150.1_Splice_Site_p.V321D|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	334					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.V334D(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AGTCTTTGTAACCTTGTTGGA	0.428																																					Melanoma(117;1345 1645 4130 12688 30625)												1	Substitution - Missense(1)	kidney(1)											114.0	109.0	110.0					10																	15161511		2203	4300	6503	SO:0001630	splice_region_variant	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1000-1T>A	10.37:g.15161511A>T			B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	A	6.025	0.372906	0.11409	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.40476	1.03	5.57	0.681	0.17986	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.332785	0.35407	N	0.003239	T	0.25306	0.0615	N	0.16368	0.405	0.45883	D	0.99873	B;B;B	0.23990	0.011;0.095;0.04	B;B;B	0.33121	0.034;0.158;0.102	T	0.04333	-1.0959	9	.	.	.	-6.2896	9.0599	0.36427	0.4111:0.0:0.5888:0.0	.	334;321;334	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	D	334;321;365;146;321	ENSP00000367407:V334D	.	V	-	2	0	NMT2	15201517	1.000000	0.71417	0.865000	0.33974	0.330000	0.28571	2.432000	0.44784	0.084000	0.17077	0.533000	0.62120	GTT		0.428	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2		NM_004808	Missense_Mutation
NRG2	9542	broad.mit.edu;hgsc.bcm.edu	37	5	139244754	139244754	+	Intron	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr5:139244754G>A	ENST00000361474.1	-	5	1414				NRG2_ENST00000358522.3_Missense_Mutation_p.P373S|NRG2_ENST00000289409.4_Missense_Mutation_p.P373S|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000394770.1_Silent_p.V398V|NRG2_ENST00000289422.7_Intron|NRG2_ENST00000340391.3_Intron|NRG2_ENST00000545385.1_Missense_Mutation_p.P373S	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2						embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCCCACAGGACACCTACCA	0.517																																																	0													74.0	74.0	74.0					5																	139244754		2203	4300	6503	SO:0001627	intron_variant	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1189+379C>T	5.37:g.139244754G>A				Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864468	0.71949	.	.	ENSG00000158458	ENST00000545385;ENST00000289409;ENST00000358522	T;T;T	0.59772	0.24;0.24;0.24	5.59	5.59	0.84812	.	.	.	.	.	T	0.66317	0.2777	M	0.75615	2.305	0.80722	D	1	P;P	0.41546	0.532;0.754	B;P	0.44623	0.376;0.455	T	0.70883	-0.4751	9	0.72032	D	0.01	.	17.7801	0.88522	0.0:0.0:1.0:0.0	.	373;373	O14511-2;O14511-4	.;.	S	373	ENSP00000438753:P373S;ENSP00000289409:P373S;ENSP00000351323:P373S	ENSP00000289409:P373S	P	-	1	0	NRG2	139224938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.220000	0.95180	2.635000	0.89317	0.650000	0.86243	CCT		0.517	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1		NM_013982	
OR4A16	81327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55111083	55111083	+	Missense_Mutation	SNP	G	G	T	rs143065334		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:55111083G>T	ENST00000314721.2	+	1	457	c.407G>T	c.(406-408)cGa>cTa	p.R136L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCATGAATCGACTGGTTTGC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											180.0	163.0	169.0					11																	55111083		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.407G>T	11.37:g.55111083G>T	ENSP00000325128:p.Arg136Leu		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	7.750	0.703038	0.15172	.	.	ENSG00000181961	ENST00000314721	T	0.24908	1.83	2.69	0.683	0.17998	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24431	0.0592	L	0.55213	1.73	0.09310	N	1	P	0.38110	0.618	B	0.42959	0.403	T	0.27020	-1.0086	9	0.62326	D	0.03	.	1.9858	0.03436	0.3375:0.0:0.3979:0.2645	.	136	Q8NH70	O4A16_HUMAN	L	136	ENSP00000325128:R136L	ENSP00000325128:R136L	R	+	2	0	OR4A16	54867659	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-1.869000	0.01643	0.433000	0.26313	0.423000	0.28283	CGA		0.478	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1		NM_001005274	
OR7G2	390882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9213720	9213720	+	Missense_Mutation	SNP	G	G	C	rs187723452	byFrequency	TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:9213720G>C	ENST00000305456.2	-	1	262	c.263C>G	c.(262-264)tCc>tGc	p.S88C		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S88C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GTCCAAAAAGGAGAGATTGGA	0.507																																					Esophageal Squamous(67;143 1448 28637 40648)												1	Substitution - Missense(1)	kidney(1)											132.0	125.0	127.0					19																	9213720		2203	4300	6503	SO:0001583	missense	390882				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.263C>G	19.37:g.9213720G>C	ENSP00000303822:p.Ser88Cys		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	9.114	1.007338	0.19199	.	.	ENSG00000170923	ENST00000305456	T	0.12361	2.69	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35903	U	0.002911	T	0.48554	0.1506	H	0.95504	3.68	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52873	-0.8517	10	0.87932	D	0	.	14.4843	0.67606	0.0:0.0:1.0:0.0	.	67	Q8NG99	OR7G2_HUMAN	C	88	ENSP00000303822:S88C	ENSP00000303822:S88C	S	-	2	0	OR7G2	9074720	0.001000	0.12720	0.073000	0.20177	0.009000	0.06853	0.990000	0.29642	2.185000	0.69588	0.552000	0.68991	TCC		0.507	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			
OTUB1	55611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63764641	63764641	+	Silent	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:63764641C>A	ENST00000538426.1	+	6	587	c.543C>A	c.(541-543)ggC>ggA	p.G181G	OTUB1_ENST00000543988.1_Silent_p.G151G|OTUB1_ENST00000428192.2_Silent_p.G181G|OTUB1_ENST00000541478.1_Silent_p.G80G|OTUB1_ENST00000543004.1_Silent_p.G190G|OTUB1_ENST00000422031.2_Silent_p.G218G|OTUB1_ENST00000535715.1_Silent_p.G181G	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	181	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)	p.G181G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TCACCTCGGGCTACCTGCAGC	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	97.0	101.0					11																	63764641		2201	4297	6498	SO:0001819	synonymous_variant	55611			AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.543C>A	11.37:g.63764641C>A			Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Silent	SNP	ENST00000538426.1	37	CCDS8055.1																																																																																				0.607	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1		NM_017670	
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	31144244	31144244	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr4:31144244G>T	ENST00000543491.1	+	3	3541	c.3541G>T	c.(3541-3543)Gat>Tat	p.D1181Y				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1126Y(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATGCCTGTTGATGAACGAGG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											96.0	95.0	96.0					4																	31144244		1969	4173	6142	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3541G>T	4.37:g.31144244G>T	ENSP00000441802:p.Asp1181Tyr		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	CCDS54753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.788204|2.788204	0.49997|0.49997	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000543491;ENST00000333135|ENST00000511884	T|.	0.52754|.	0.65|.	5.86|5.86	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	T|.	0.57888|.	0.2084|.	L|L	0.36672|0.36672	1.1|1.1	0.44908|0.44908	D|D	0.997922|0.997922	P;P|.	0.50528|.	0.936;0.936|.	P;P|.	0.53809|.	0.735;0.735|.	T|.	0.50083|.	-0.8869|.	9|.	0.66056|.	D|.	0.02|.	.|.	14.774|14.774	0.69703|0.69703	0.069:0.0:0.931:0.0|0.069:0.0:0.931:0.0	.|.	1181;1126|.	F5GWJ1;O60245-3|.	.;.|.	Y|L	1181;1126|862	ENSP00000441802:D1181Y|.	ENSP00000330302:D1126Y|.	D|X	+|+	1|2	0|2	PCDH7|PCDH7	30753342|30753342	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.876000|0.876000	0.50452|0.50452	7.597000|7.597000	0.82733|0.82733	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.537	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032457, NM_002589	
PCSK4	54760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1482902	1482902	+	Silent	SNP	G	G	A	rs143738061	byFrequency	TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:1482902G>A	ENST00000300954.5	-	13	1750	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4									p.F563F(1)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCGTGTTGAAATAGTAGC	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	46.0	47.0					19																	1482902		2202	4299	6501	SO:0001819	synonymous_variant	54760			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1689C>T	19.37:g.1482902G>A				Silent	SNP	ENST00000300954.5	37	CCDS12069.2																																																																																				0.617	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1		NM_017573	
PEPD	5184	broad.mit.edu	37	19	33882246	33882246	+	Silent	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:33882246G>A	ENST00000244137.7	-	13	1140	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000436370.3_Silent_p.G305G|PEPD_ENST00000397032.4_Silent_p.G328G	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	369					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.G369G(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCAGGAAGTGGCCAAGCCCGT	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	32.0	30.0					19																	33882246		2115	4235	6350	SO:0001819	synonymous_variant	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1107C>T	19.37:g.33882246G>A			A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	CCDS42544.1																																																																																				0.662	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3		NM_000285	
PGAP3	93210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37829071	37829071	+	Silent	SNP	C	C	T	rs560138585		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:37829071C>T	ENST00000300658.4	-	8	1040	c.948G>A	c.(946-948)aaG>aaA	p.K316K	PGAP3_ENST00000579146.1_3'UTR|PGAP3_ENST00000429199.2_Silent_p.K295K|PGAP3_ENST00000378011.4_Silent_p.K265K	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	316					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.K316K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CCAGCTTGAACTTGTCCTCTG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20766	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											103.0	81.0	89.0					17																	37829071		2203	4300	6503	SO:0001819	synonymous_variant	93210			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.948G>A	17.37:g.37829071C>T			B4DGK7|Q86Z03|Q8NBJ8	Silent	SNP	ENST00000300658.4	37	CCDS32641.1																																																																																				0.567	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2		NM_033419	
POMGNT1	55624	broad.mit.edu	37	1	46658993	46658993	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:46658993T>G	ENST00000371984.3	-	12	1251	c.1094A>C	c.(1093-1095)aAt>aCt	p.N365T	POMGNT1_ENST00000371986.3_Missense_Mutation_p.N365T|POMGNT1_ENST00000535522.1_Missense_Mutation_p.N343T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.N365T|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	365					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.N365T(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CACGCGGGCATTCTTGATGCT	0.577																																																	2	Substitution - Missense(2)	kidney(2)											120.0	108.0	112.0					1																	46658993		2203	4300	6503	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1094A>C	1.37:g.46658993T>G	ENSP00000361052:p.Asn365Thr		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095641	0.76870	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.90304	0.6967	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.67145	0.991;0.996;0.993;0.996;0.993	P;D;D;D;D	0.67548	0.885;0.952;0.936;0.934;0.914	D	0.89400	0.3695	10	0.32370	T	0.25	-21.4406	15.5811	0.76439	0.0:0.0:0.0:1.0	.	343;343;365;222;365	F5H827;B7Z7Q4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;PMGT1_HUMAN	T	365;365;343;365	ENSP00000361052:N365T;ENSP00000361060:N365T;ENSP00000443767:N343T;ENSP00000361054:N365T	ENSP00000361052:N365T	N	-	2	0	POMGNT1	46431580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.108000	0.77055	2.270000	0.75569	0.459000	0.35465	AAT		0.577	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1		NM_017739	
PIGR	5284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207108891	207108891	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:207108891A>G	ENST00000356495.4	-	5	1501	c.1318T>C	c.(1318-1320)Tgg>Cgg	p.W440R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	440	Ig-like V-type 4.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.W440R(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCAGACACCAGTAGAAGCCG	0.592											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											64.0	64.0	64.0					1																	207108891		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1318T>C	1.37:g.207108891A>G	ENSP00000348888:p.Trp440Arg	2165	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018992	0.75275	.	.	ENSG00000162896	ENST00000356495	T	0.04015	3.73	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.19725	0.0474	M	0.72118	2.19	0.45216	D	0.998228	D	0.89917	1.0	D	0.97110	1.0	T	0.00152	-1.1984	10	0.52906	T	0.07	-4.1283	13.5454	0.61699	1.0:0.0:0.0:0.0	.	440	P01833	PIGR_HUMAN	R	440	ENSP00000348888:W440R	ENSP00000348888:W440R	W	-	1	0	PIGR	205175514	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.249000	0.65427	2.196000	0.70406	0.533000	0.62120	TGG		0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1		NM_002644	
PPFIBP1	8496	broad.mit.edu	37	12	27799072	27799072	+	Silent	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr12:27799072C>T	ENST00000318304.8	+	5	631	c.348C>T	c.(346-348)ctC>ctT	p.L116L	PPFIBP1_ENST00000228425.6_Silent_p.L116L|PPFIBP1_ENST00000535047.1_Silent_p.L116L|PPFIBP1_ENST00000542629.1_Silent_p.L116L|PPFIBP1_ENST00000537927.1_5'UTR	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	116					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.L116L(4)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAGAATCCCTCGTTCTTCAGG	0.398																																																	4	Substitution - coding silent(4)	prostate(2)|kidney(2)											95.0	87.0	90.0					12																	27799072		2203	4300	6503	SO:0001819	synonymous_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.348C>T	12.37:g.27799072C>T			O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																				0.398	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1		NM_003622	
PTPN4	5775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120718482	120718482	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:120718482G>A	ENST00000263708.2	+	23	3004	c.2233G>A	c.(2233-2235)Ggc>Agc	p.G745S	PTPN4_ENST00000544261.1_Missense_Mutation_p.G378S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	745	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.G745S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGGGAACAAGGCTCCTCTAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											167.0	149.0	155.0					2																	120718482		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2233G>A	2.37:g.120718482G>A	ENSP00000263708:p.Gly745Ser		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.678767|2.678767	0.47886|0.47886	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	T;T|.	0.15139|.	2.45;2.45|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.045294|.	0.85682|.	D|.	0.000000|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	P|.	0.56216|.	0.794|.	T|T	0.52041|0.52041	-0.8628|-0.8628	10|5	0.23891|.	T|.	0.37|.	.|.	20.0118|20.0118	0.97458|0.97458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	745|.	P29074|.	PTN4_HUMAN|.	S|K	745;378|28	ENSP00000263708:G745S;ENSP00000445841:G378S|.	ENSP00000263708:G745S|.	G|R	+|+	1|2	0|0	PTPN4|PTPN4	120434952|120434952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.659000|6.659000	0.74412|0.74412	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	GGC|AGG		0.393	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			
RBM23	55147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23378782	23378782	+	Missense_Mutation	SNP	A	A	G	rs200287080		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr14:23378782A>G	ENST00000359890.3	-	3	284	c.89T>C	c.(88-90)gTt>gCt	p.V30A	RBM23_ENST00000555209.1_Intron|RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.V30A|RBM23_ENST00000346528.5_Missense_Mutation_p.V30A|RBM23_ENST00000542016.2_Intron	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	30					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V30A(1)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		ATCCTTTTTAACTTCTTTCCT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											353.0	343.0	346.0					14																	23378782		2090	4219	6309	SO:0001583	missense	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.89T>C	14.37:g.23378782A>G	ENSP00000352956:p.Val30Ala		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	A	2.861	-0.236172	0.05944	.	.	ENSG00000100461	ENST00000359890;ENST00000399922;ENST00000346528;ENST00000554256;ENST00000557549;ENST00000555676;ENST00000557571;ENST00000556862;ENST00000557464;ENST00000554618;ENST00000553876;ENST00000555691	T;T;T	0.79554	-1.28;3.9;3.91	5.28	2.94	0.34122	.	1.132430	0.06677	N	0.767377	T	0.60689	0.2288	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.003;0.002;0.001	T	0.47289	-0.9129	10	0.09338	T	0.73	-3.8209	6.7375	0.23417	0.8169:0.0:0.1831:0.0	.	30;30;30;30	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	A	30	ENSP00000352956:V30A;ENSP00000382806:V30A;ENSP00000339220:V30A	ENSP00000305783:V30A	V	-	2	0	RBM23	22448622	0.761000	0.28439	0.998000	0.56505	0.852000	0.48524	1.560000	0.36331	0.475000	0.27415	-0.250000	0.11733	GTT		0.483	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			
RFX6	222546	broad.mit.edu;hgsc.bcm.edu	37	6	117248535	117248535	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr6:117248535G>T	ENST00000332958.2	+	17	2247	c.2231G>T	c.(2230-2232)tGt>tTt	p.C744F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	744					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.C744F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTGGCAGCTGTGCGGGGTCT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											62.0	58.0	60.0					6																	117248535		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2231G>T	6.37:g.117248535G>T	ENSP00000332208:p.Cys744Phe		Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005804	0.54254	.	.	ENSG00000185002	ENST00000332958	T	0.57107	0.42	5.15	5.15	0.70609	.	0.162273	0.56097	D	0.000028	T	0.49830	0.1580	L	0.60455	1.87	0.58432	D	0.999992	P	0.49358	0.923	P	0.46543	0.52	T	0.57528	-0.7796	10	0.87932	D	0	-17.9708	18.8169	0.92079	0.0:0.0:1.0:0.0	.	744	Q8HWS3	RFX6_HUMAN	F	744	ENSP00000332208:C744F	ENSP00000332208:C744F	C	+	2	0	RFX6	117355228	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.566000	0.82347	2.682000	0.91365	0.655000	0.94253	TGT		0.522	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2		NM_173560	
RYR3	6263	broad.mit.edu;ucsc.edu	37	15	34072416	34072416	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr15:34072416C>T	ENST00000389232.4	+	65	9212	c.9142C>T	c.(9142-9144)Cgc>Tgc	p.R3048C	RYR3_ENST00000415757.3_Missense_Mutation_p.R3048C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3048					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R3048C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCCAGGCAACGCCCTGCCCT	0.552																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9142C>T	15.37:g.34072416C>T	ENSP00000373884:p.Arg3048Cys		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642788	0.87859	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.90788	-2.73;-2.73	5.52	5.52	0.82312	.	0.164390	0.41823	D	0.000820	D	0.95153	0.8429	M	0.85542	2.76	0.58432	D	0.999994	D;D	0.89917	0.998;1.0	P;D	0.63488	0.731;0.915	D	0.95330	0.8429	10	0.87932	D	0	.	15.2699	0.73693	0.1406:0.8594:0.0:0.0	.	3048;3048	Q15413-2;Q15413	.;RYR3_HUMAN	C	3048	ENSP00000373884:R3048C;ENSP00000399610:R3048C	ENSP00000354735:R3048C	R	+	1	0	RYR3	31859708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.648000	0.61425	2.878000	0.98634	0.650000	0.86243	CGC		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			
SIAH2	6478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150460186	150460186	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr3:150460186G>C	ENST00000312960.3	-	2	1244	c.717C>G	c.(715-717)taC>taG	p.Y239*		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	239	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y239*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTGGCCTTCGTACTTCTCTT	0.522																																																	1	Substitution - Nonsense(1)	kidney(1)											104.0	92.0	96.0					3																	150460186		2203	4300	6503	SO:0001587	stop_gained	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.717C>G	3.37:g.150460186G>C	ENSP00000322457:p.Tyr239*		O43270	Nonsense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	38	7.283042	0.98186	.	.	ENSG00000181788	ENST00000312960	.	.	.	5.67	-1.56	0.08532	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8502	0.63492	0.5868:0.0:0.4132:0.0	.	.	.	.	X	239	.	ENSP00000322457:Y239X	Y	-	3	2	SIAH2	151942876	0.774000	0.28592	0.978000	0.43139	0.992000	0.81027	-0.090000	0.11163	-0.365000	0.08076	-0.218000	0.12543	TAC		0.522	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1		NM_005067	
SLC19A3	80704	broad.mit.edu;ucsc.edu	37	2	228560780	228560780	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:228560780C>A	ENST00000258403.3	-	4	1068	c.997G>T	c.(997-999)Gca>Tca	p.A333S	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.A329S	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	333					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.A333S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TAACCCACTGCAAAGGCAGCC	0.448																																																	1	Substitution - Missense(1)	kidney(1)											44.0	52.0	49.0					2																	228560780		2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.997G>T	2.37:g.228560780C>A	ENSP00000258403:p.Ala333Ser			Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006287	0.19199	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.81078	-1.45;-1.45	5.23	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);	0.279707	0.40469	N	0.001081	T	0.63954	0.2555	N	0.25825	0.765	0.09310	N	1	B;B	0.23128	0.012;0.08	B;B	0.28305	0.041;0.088	T	0.45877	-0.9231	10	0.18710	T	0.47	-4.6091	2.3028	0.04166	0.3399:0.395:0.1538:0.1113	.	329;333	F5H2M8;Q9BZV2	.;S19A3_HUMAN	S	333;329	ENSP00000258403:A333S;ENSP00000445519:A329S	ENSP00000258403:A333S	A	-	1	0	SLC19A3	228269024	0.000000	0.05858	0.943000	0.38184	0.979000	0.70002	-0.323000	0.07997	1.372000	0.46190	0.655000	0.94253	GCA		0.448	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			
SLC22A6	9356	broad.mit.edu	37	11	62751897	62751897	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:62751897G>T	ENST00000377871.3	-	1	532	c.266C>A	c.(265-267)cCc>cAc	p.P89H	SLC22A6_ENST00000458333.2_Missense_Mutation_p.P89H|SLC22A6_ENST00000421062.2_Missense_Mutation_p.P89H|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P89H|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	89					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.P89H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ATTGAGAAAGGGCAGTCCCCA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											81.0	81.0	81.0					11																	62751897		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.266C>A	11.37:g.62751897G>T	ENSP00000367102:p.Pro89His		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	7.213	0.595747	0.13875	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.63	1.46	0.22682	.	0.309524	0.30830	N	0.008795	T	0.34832	0.0911	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.17038	0.02;0.02;0.012;0.02	B;B;B;B	0.20767	0.031;0.031;0.014;0.02	T	0.22765	-1.0207	10	0.42905	T	0.14	.	1.64	0.02750	0.1871:0.1649:0.4782:0.1698	.	89;89;89;89	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	H	89;68;89;89;89	ENSP00000353597:P89H;ENSP00000367102:P89H;ENSP00000396401:P89H;ENSP00000404441:P89H	ENSP00000353597:P89H	P	-	2	0	SLC22A6	62508473	0.007000	0.16637	0.001000	0.08648	0.546000	0.35178	0.915000	0.28638	0.545000	0.28902	0.557000	0.71058	CCC		0.627	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1		NM_004790	
SLC35F3	148641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234454501	234454501	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:234454501T>A	ENST00000366617.3	+	5	980	c.752T>A	c.(751-753)tTg>tAg	p.L251*	SLC35F3_ENST00000366618.3_Nonsense_Mutation_p.L320*			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	251					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.L320*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTACAGGTTTTGTTCAAGCTC	0.488																																																	1	Substitution - Nonsense(1)	kidney(1)											158.0	151.0	153.0					1																	234454501		2203	4300	6503	SO:0001587	stop_gained	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.752T>A	1.37:g.234454501T>A	ENSP00000355576:p.Leu251*		Q5TDD6|Q8N9C9	Nonsense_Mutation	SNP	ENST00000366617.3	37		.	.	.	.	.	.	.	.	.	.	T	39	7.380195	0.98248	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.206	15.9803	0.80105	0.0:0.0:0.0:1.0	.	.	.	.	X	320;251	.	ENSP00000355576:L251X	L	+	2	0	SLC35F3	232521124	1.000000	0.71417	0.946000	0.38457	0.920000	0.55202	8.040000	0.89188	2.174000	0.68829	0.533000	0.62120	TTG		0.488	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1		NM_173508	
SLC5A6	8884	broad.mit.edu;hgsc.bcm.edu	37	2	27429797	27429797	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:27429797C>A	ENST00000310574.3	-	4	880	c.407G>T	c.(406-408)cGa>cTa	p.R136L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.R136L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	136					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.R136L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	TTTATTGAATCGAAGCTCCAG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											212.0	215.0	214.0					2																	27429797		2203	4300	6503	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.407G>T	2.37:g.27429797C>A	ENSP00000310208:p.Arg136Leu		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463485	0.84425	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99278	1.0895	10	0.87932	D	0	.	15.8595	0.79012	0.0:1.0:0.0:0.0	.	136	Q9Y289	SC5A6_HUMAN	L	136	ENSP00000310208:R136L;ENSP00000384853:R136L;ENSP00000403851:R136L;ENSP00000384265:R136L	ENSP00000310208:R136L	R	-	2	0	SLC5A6	27283301	1.000000	0.71417	0.977000	0.42913	0.418000	0.31294	7.236000	0.78154	2.816000	0.96949	0.563000	0.77884	CGA		0.463	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1		NM_021095	
SOCS3	9021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76354730	76354730	+	Silent	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:76354730C>T	ENST00000330871.2	-	2	862	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	149					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)	p.E149E(1)		kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CAGACGGCTGCTCGGGCACCT	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											16.0	20.0	18.0					17																	76354730		2195	4280	6475	SO:0001819	synonymous_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.447G>A	17.37:g.76354730C>T			O14509	Silent	SNP	ENST00000330871.2	37	CCDS11756.1																																																																																				0.662	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			
ST8SIA6	338596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	17432566	17432566	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:17432566T>A	ENST00000377602.4	-	3	328	c.254A>T	c.(253-255)cAa>cTa	p.Q85L	ST8SIA6-AS1_ENST00000377597.2_RNA|ST8SIA6-AS1_ENST00000451225.2_RNA|ST8SIA6-AS1_ENST00000457649.2_RNA	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	85					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.Q85L(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AATGCCATATTGCAGATTTTT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											172.0	164.0	166.0					10																	17432566		2203	4300	6503	SO:0001583	missense	338596				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.254A>T	10.37:g.17432566T>A	ENSP00000366827:p.Gln85Leu		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	T	5.394	0.257905	0.10239	.	.	ENSG00000148488	ENST00000377602	T	0.23950	1.88	4.6	1.02	0.19986	.	0.540708	0.19329	N	0.116957	T	0.18383	0.0441	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16719	-1.0393	10	0.30854	T	0.27	-20.7565	2.7518	0.05283	0.1899:0.2052:0.0:0.6048	.	85	P61647	SIA8F_HUMAN	L	85	ENSP00000366827:Q85L	ENSP00000366827:Q85L	Q	-	2	0	ST8SIA6	17472572	0.426000	0.25506	0.004000	0.12327	0.044000	0.14063	1.213000	0.32407	0.347000	0.23924	-0.327000	0.08410	CAA		0.333	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1		NM_001004470	
SUN2	25777	broad.mit.edu;hgsc.bcm.edu	37	22	39146323	39146323	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr22:39146323A>G	ENST00000405510.1	-	6	785	c.427T>C	c.(427-429)Tac>Cac	p.Y143H	SUN2_ENST00000405018.1_Missense_Mutation_p.Y164H|SUN2_ENST00000216064.4_Missense_Mutation_p.Y143H|SUN2_ENST00000406622.1_Missense_Mutation_p.Y143H|SUN2_ENST00000411587.2_Missense_Mutation_p.Y132H|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	143	Ser-rich.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)	p.Y143H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACATCCGAGTAGCCTGCGGGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											50.0	46.0	48.0					22																	39146323		2203	4300	6503	SO:0001583	missense	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.427T>C	22.37:g.39146323A>G	ENSP00000385740:p.Tyr143His		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185973	0.78789	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859	T;T;T;T;T;T;T;T	0.33438	2.71;2.71;2.54;2.71;2.65;1.41;1.49;1.45	5.09	2.85	0.33270	.	0.492460	0.19609	N	0.110189	T	0.13415	0.0325	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.19200	0.003;0.034;0.034;0.016;0.012	B;B;B;B;B	0.14023	0.005;0.01;0.01;0.003;0.006	T	0.10405	-1.0631	10	0.25106	T	0.35	-20.6093	3.9667	0.09434	0.6809:0.0:0.1474:0.1716	.	132;178;143;164;143	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	H	143;143;164;143;132;97;143;97	ENSP00000385740:Y143H;ENSP00000216064:Y143H;ENSP00000385616:Y164H;ENSP00000383992:Y143H;ENSP00000395601:Y132H;ENSP00000406941:Y97H;ENSP00000415588:Y143H;ENSP00000408834:Y97H	ENSP00000216064:Y143H	Y	-	1	0	SUN2	37476269	0.746000	0.28272	0.760000	0.31359	0.640000	0.38277	1.840000	0.39230	2.032000	0.59987	0.528000	0.53228	TAC		0.612	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1		XM_039332	
SYCP1	6847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115489894	115489894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:115489894G>T	ENST00000369522.3	+	27	2515	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.E759*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	759					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.E759*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCAAAGCTGAACTTTTGTC	0.318																																																	1	Substitution - Nonsense(1)	kidney(1)											63.0	66.0	65.0					1																	115489894		2203	4293	6496	SO:0001587	stop_gained	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2275G>T	1.37:g.115489894G>T	ENSP00000358535:p.Glu759*		O14963|Q5VXJ6	Nonsense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234542	0.97399	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	5.12	4.19	0.49359	.	0.171761	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.9223	13.4823	0.61342	0.0823:0.0:0.9177:0.0	.	.	.	.	X	759	.	ENSP00000358531:E759X	E	+	1	0	SYCP1	115291417	1.000000	0.71417	0.984000	0.44739	0.458000	0.32498	4.370000	0.59517	2.550000	0.86006	0.650000	0.86243	GAA		0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1		NM_003176	
TAS2R50	259296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11139225	11139225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr12:11139225C>A	ENST00000506868.1	-	1	286	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	79					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.E79*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ATTCTTAATTCTACACTATAA	0.378																																																	1	Substitution - Nonsense(1)	kidney(1)											66.0	75.0	72.0					12																	11139225		2203	4297	6500	SO:0001587	stop_gained	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.235G>T	12.37:g.11139225C>A	ENSP00000424040:p.Glu79*		P59545|Q2M255|Q645Y0	Nonsense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329030	0.41197	.	.	ENSG00000212126	ENST00000506868	.	.	.	2.01	-0.124	0.13523	.	5.078570	0.00691	U	0.000729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	0.7075	0.00918	0.2423:0.3502:0.2385:0.169	.	.	.	.	X	79	.	ENSP00000424040:E79X	E	-	1	0	TAS2R50	11030492	0.000000	0.05858	0.005000	0.12908	0.171000	0.22731	-1.726000	0.01861	0.142000	0.18901	0.313000	0.20887	GAA		0.378	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2		NM_176890	
TMEM130	222865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98457932	98457932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr7:98457932G>A	ENST00000416379.2	-	3	425	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	TMEM130_ENST00000345589.4_Nonsense_Mutation_p.Q39*|TMEM130_ENST00000546258.1_Nonsense_Mutation_p.Q122*|TMEM130_ENST00000339375.4_Nonsense_Mutation_p.Q141*|TMEM130_ENST00000450876.1_Nonsense_Mutation_p.Q57*			Q8N3G9	TM130_HUMAN	transmembrane protein 130	141						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q141*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAGTGTTCTGGGTGACAACA	0.557																																																	1	Substitution - Nonsense(1)	kidney(1)											115.0	102.0	106.0					7																	98457932		2203	4300	6503	SO:0001587	stop_gained	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.421C>T	7.37:g.98457932G>A	ENSP00000413163:p.Gln141*		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Nonsense_Mutation	SNP	ENST00000416379.2	37	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900286	0.52227	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	.	.	.	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-19.4609	10.961	0.47385	0.0:0.1908:0.8092:0.0	.	.	.	.	X	141;141;57;39;122	.	ENSP00000341256:Q141X	Q	-	1	0	TMEM130	98295868	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.086000	0.64474	2.313000	0.78055	0.650000	0.86243	CAG		0.557	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1		NM_152913	
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179424711	179424711	+	Silent	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:179424711T>A	ENST00000591111.1	-	276	81449	c.81225A>T	c.(81223-81225)acA>acT	p.T27075T	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.T28716T|TTN_ENST00000359218.5_Silent_p.T19776T|TTN_ENST00000460472.2_Silent_p.T19651T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T26148T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T19843T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27075	Fibronectin type-III 97. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T19843T(1)|p.T19651T(1)|p.T26148T(1)|p.T19776T(1)|p.T26146T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTCCTGTTGTTAGTCCGC	0.398																																																	5	Substitution - coding silent(5)	kidney(5)											76.0	73.0	74.0					2																	179424711		1872	4104	5976	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81225A>T	2.37:g.179424711T>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UPF1	5976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18974988	18974988	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:18974988T>C	ENST00000599848.1	+	20	3027	c.2818T>C	c.(2818-2820)Ttc>Ctc	p.F940L	UPF1_ENST00000262803.5_Missense_Mutation_p.F929L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	940					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F929L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GGGAGCCCGCTTCATGACCAC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											98.0	99.0	99.0					19																	18974988		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2818T>C	19.37:g.18974988T>C	ENSP00000470142:p.Phe940Leu		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	T	17.70	3.454083	0.63290	.	.	ENSG00000005007	ENST00000262803	D	0.89270	-2.49	4.56	4.56	0.56223	.	0.118276	0.64402	D	0.000009	D	0.83454	0.5258	L	0.35854	1.095	0.80722	D	1	B;B	0.18741	0.004;0.03	B;B	0.17979	0.005;0.02	T	0.79732	-0.1680	10	0.40728	T	0.16	-40.9027	12.7492	0.57298	0.0:0.0:0.0:1.0	.	940;929	Q92900;Q92900-2	RENT1_HUMAN;.	L	929	ENSP00000262803:F929L	ENSP00000262803:F929L	F	+	1	0	UPF1	18835988	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	1.695000	0.51148	0.533000	0.62120	TTC		0.602	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1		NM_002911	
WDR11	55717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	122661797	122661797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:122661797G>T	ENST00000263461.6	+	22	2962	c.2716G>T	c.(2716-2718)Gaa>Taa	p.E906*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.E906*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTTGATCCAGAATTCACTCT	0.358																																																	1	Substitution - Nonsense(1)	kidney(1)											104.0	100.0	102.0					10																	122661797		2203	4300	6503	SO:0001587	stop_gained	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2716G>T	10.37:g.122661797G>T	ENSP00000263461:p.Glu906*		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	42	9.407145	0.99161	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.77	5.77	0.91146	.	0.141517	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-13.5085	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	X	906	.	ENSP00000263461:E906X	E	+	1	0	WDR11	122651787	1.000000	0.71417	0.972000	0.41901	0.959000	0.62525	6.435000	0.73412	2.884000	0.98904	0.655000	0.94253	GAA		0.358	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			
WNK4	65266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40947998	40947998	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:40947998A>T	ENST00000246914.5	+	16	3399	c.3378A>T	c.(3376-3378)gaA>gaT	p.E1126D	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1126					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.E1114D(1)|p.E1126D(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGAGTCAGAAAGCAGTGGGG	0.587																																					Esophageal Squamous(6;201 374 4964 23855 42828)												2	Substitution - Missense(2)	kidney(2)											59.0	57.0	58.0					17																	40947998		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3378A>T	17.37:g.40947998A>T	ENSP00000246914:p.Glu1126Asp		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576317	0.28092	.	.	ENSG00000126562	ENST00000246914	T	0.78003	-1.14	5.18	3.19	0.36642	.	0.000000	0.46758	D	0.000275	T	0.60958	0.2309	L	0.32530	0.975	0.80722	D	1	B;B	0.30563	0.285;0.029	B;B	0.30943	0.122;0.008	T	0.50145	-0.8862	10	0.26408	T	0.33	-15.8901	2.8315	0.05502	0.1595:0.1418:0.5527:0.146	.	1126;1126	Q96J92-3;Q96J92	.;WNK4_HUMAN	D	1126	ENSP00000246914:E1126D	ENSP00000246914:E1126D	E	+	3	2	WNK4	38201524	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	2.026000	0.41069	0.566000	0.29273	0.260000	0.18958	GAA		0.587	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106815671	106815671	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr8:106815671T>C	ENST00000407775.2	+	8	3611	c.3361T>C	c.(3361-3363)Tgc>Cgc	p.C1121R	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.C852R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.C989R|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.C989R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1121					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C1121R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGGAAATATTGCCGGCTATG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											42.0	42.0	42.0					8																	106815671		1865	4107	5972	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3361T>C	8.37:g.106815671T>C	ENSP00000384179:p.Cys1121Arg		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822800	0.50739	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	D;D;D;D	0.99925	-8.03;-8.03;-8.03;-8.03	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95547	0.8617	10	0.87932	D	0	.	16.1671	0.81777	0.0:0.0:0.0:1.0	.	1121	Q8WW38	FOG2_HUMAN	R	1121;989;989;852	ENSP00000384179:C1121R;ENSP00000430757:C989R;ENSP00000428720:C989R;ENSP00000367733:C852R	ENSP00000367733:C852R	C	+	1	0	ZFPM2	106884847	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	8.040000	0.89188	2.224000	0.72417	0.528000	0.53228	TGC		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			
ZNF425	155054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148802500	148802500	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr7:148802500T>G	ENST00000378061.2	-	4	595	c.463A>C	c.(463-465)Aat>Cat	p.N155H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	155					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N155H(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTTTTTTATTTAGAATCTCT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											114.0	114.0	114.0					7																	148802500		2203	4300	6503	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.463A>C	7.37:g.148802500T>G	ENSP00000367300:p.Asn155His		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	6.630	0.484688	0.12641	.	.	ENSG00000204947	ENST00000378061	T	0.07800	3.16	2.75	-1.45	0.08828	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47522	-0.9111	9	0.15952	T	0.53	.	6.0276	0.19663	0.1675:0.0:0.5621:0.2704	.	155	Q6IV72	ZN425_HUMAN	H	155	ENSP00000367300:N155H	ENSP00000367300:N155H	N	-	1	0	ZNF425	148433433	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.401000	0.02502	-0.625000	0.05604	-1.139000	0.01908	AAT		0.478	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140	
ZNF518B	85460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	10447285	10447285	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr4:10447285T>C	ENST00000326756.3	-	3	1106	c.668A>G	c.(667-669)aAa>aGa	p.K223R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	223					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K223R(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GGCAACAGCTTTGACTGGCCG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											192.0	198.0	196.0					4																	10447285		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.668A>G	4.37:g.10447285T>C	ENSP00000317614:p.Lys223Arg		Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.400839	0.42613	.	.	ENSG00000178163	ENST00000326756	T	0.01821	4.62	6.17	-0.392	0.12442	.	0.201243	0.34156	N	0.004215	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.49447	-0.8939	10	0.14252	T	0.57	-21.2497	6.563	0.22497	0.0:0.3316:0.1221:0.5463	.	223	Q9C0D4	Z518B_HUMAN	R	223	ENSP00000317614:K223R	ENSP00000317614:K223R	K	-	2	0	ZNF518B	10056383	0.000000	0.05858	0.002000	0.10522	0.279000	0.26890	0.108000	0.15396	-0.012000	0.14223	0.533000	0.62120	AAA		0.418	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1		NM_053042	
ZPBP	11055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50070788	50070788	+	Silent	SNP	A	A	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr7:50070788A>T	ENST00000046087.2	-	5	675	c.606T>A	c.(604-606)ctT>ctA	p.L202L	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.L201L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	202					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.L202L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAAGGTCAAGAAGCAGTTTGC	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	72.0	70.0					7																	50070788		2203	4299	6502	SO:0001819	synonymous_variant	11055			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.606T>A	7.37:g.50070788A>T			A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	CCDS5509.1																																																																																				0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1		NM_007009	
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3988990	3988990	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:3988990G>C	ENST00000381638.2	-	16	2744	c.2620C>G	c.(2620-2622)Cga>Gga	p.R874G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	874							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R874G(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGGTTCCGTCGGGTCTGTCGA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											145.0	124.0	131.0					17																	3988990		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2620C>G	17.37:g.3988990G>C	ENSP00000371051:p.Arg874Gly		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225170	0.79576	.	.	ENSG00000074755	ENST00000381638	T	0.36878	1.23	6.06	6.06	0.98353	.	0.154348	0.56097	D	0.000030	T	0.47710	0.1460	L	0.34521	1.04	0.54753	D	0.999983	D;D	0.65815	0.995;0.985	P;P	0.61722	0.893;0.689	T	0.40850	-0.9541	10	0.87932	D	0	-16.9564	16.2252	0.82286	0.0:0.0:0.8593:0.1407	.	874;874	O43149-3;O43149	.;ZZEF1_HUMAN	G	874	ENSP00000371051:R874G	ENSP00000371051:R874G	R	-	1	2	ZZEF1	3935739	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.598000	0.54038	2.882000	0.98803	0.655000	0.94253	CGA		0.438	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
TTN	7273	broad.mit.edu	37	2	179480458	179480458	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:179480458C>G	ENST00000591111.1	-	208	43671	c.43447G>C	c.(43447-43449)Gag>Cag	p.E14483Q	TTN_ENST00000589042.1_Missense_Mutation_p.E16124Q|TTN_ENST00000359218.5_Missense_Mutation_p.E7184Q|TTN_ENST00000460472.2_Missense_Mutation_p.E7059Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13556Q|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7251Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14483	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E13556Q(2)|p.E7184Q(1)|p.E7059Q(1)|p.E7251Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAAGTACTCTTTTCCTTGA	0.373																																						.											5	Substitution - Missense(5)	kidney(5)											128.0	120.0	123.0					2																	179480458		1870	4097	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43447G>C	2.37:g.179480458C>G	ENSP00000465570:p.Glu14483Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.40	2.823630	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.96	5.96	0.96718	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73466	0.3590	M	0.66378	2.025	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73817	-0.3863	9	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	7059;7184;7251;14483	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	13556;7059;7251;7184;7059	ENSP00000343764:E13556Q;ENSP00000434586:E7059Q;ENSP00000340554:E7251Q;ENSP00000352154:E7184Q	ENSP00000340554:E7251Q	E	-	1	0	TTN	179188703	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.686000	0.84128	2.826000	0.97356	0.655000	0.94253	GAG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
