#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
ABCA9	10350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67023488	67023488	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:67023488T>C	ENST00000340001.4	-	14	2105	c.1894A>G	c.(1894-1896)Att>Gtt	p.I632V	ABCA9_ENST00000453985.2_Missense_Mutation_p.I632V|ABCA9_ENST00000370732.2_Missense_Mutation_p.I632V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	632	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I632V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTCCTAAAATGGCAATCCCA	0.303																																																	1	Substitution - Missense(1)	kidney(1)											44.0	41.0	42.0					17																	67023488		2203	4292	6495	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1894A>G	17.37:g.67023488T>C	ENSP00000342216:p.Ile632Val		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246504	0.39697	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.93763	-3.28;-3.28	5.09	1.4	0.22301	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.278618	0.24983	N	0.034050	D	0.89511	0.6736	L	0.33485	1.01	0.31591	N	0.653852	P;B	0.50066	0.931;0.423	P;B	0.50617	0.646;0.264	D	0.85501	0.1191	10	0.22706	T	0.39	.	7.4408	0.27181	0.1335:0.0:0.2786:0.5878	.	632;632	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	632;615;632;627	ENSP00000342216:I632V;ENSP00000359767:I632V	ENSP00000342216:I632V	I	-	1	0	ABCA9	64535083	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.963000	0.29293	0.008000	0.14787	0.477000	0.44152	ATT		0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386	
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95830003	95830003	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:95830003A>C	ENST00000376887.4	-	13	1799	c.1685T>G	c.(1684-1686)cTc>cGc	p.L562R	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.L562R|ABCC4_ENST00000536256.1_Missense_Mutation_p.L487R|ABCC4_ENST00000431522.1_Missense_Mutation_p.L562R	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	562	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L562R(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TACTGCACTGAGAGGATCGTC	0.438																																																	2	Substitution - Missense(2)	kidney(2)											152.0	130.0	137.0					13																	95830003		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1685T>G	13.37:g.95830003A>C	ENSP00000366084:p.Leu562Arg		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339818	0.41398	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.4	5.4	0.78164	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	H	0.95850	3.73	0.80722	D	1	D;P;P;P;D	0.71674	0.998;0.951;0.948;0.951;0.958	D;P;P;P;P	0.74023	0.982;0.829;0.901;0.869;0.867	D	0.99129	1.0852	10	0.87932	D	0	.	15.7275	0.77774	1.0:0.0:0.0:0.0	.	487;562;562;562;562	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	R	562;562;487;562	ENSP00000388657:L562R;ENSP00000366084:L562R;ENSP00000442024:L487R;ENSP00000398562:L562R	ENSP00000366084:L562R	L	-	2	0	ABCC4	94628004	1.000000	0.71417	0.980000	0.43619	0.270000	0.26580	8.772000	0.91757	2.164000	0.68074	0.533000	0.62120	CTC		0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2		NM_005845	
ACSL6	23305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131289980	131289980	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr5:131289980G>T	ENST00000379240.1	-	21	2194	c.2041C>A	c.(2041-2043)Ctg>Atg	p.L681M	AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379264.2_Missense_Mutation_p.L706M|ACSL6_ENST00000379272.2_Missense_Mutation_p.L696M|ACSL6_ENST00000357096.1_Missense_Mutation_p.L606M|ACSL6_ENST00000296869.4_Missense_Mutation_p.L706M|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379255.1_Missense_Mutation_p.L606M|ACSL6_ENST00000431707.1_Missense_Mutation_p.L661M|ACSL6_ENST00000379246.1_Missense_Mutation_p.L692M|ACSL6_ENST00000544770.1_Missense_Mutation_p.L590M|ACSL6_ENST00000379244.1_Missense_Mutation_p.L681M|ACSL6_ENST00000543479.1_Missense_Mutation_p.L681M			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	681					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.L706M(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTCTCTCAGCTCAGGTCTC	0.373																																																	2	Substitution - Missense(2)	kidney(2)											113.0	99.0	103.0					5																	131289980		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.2041C>A	5.37:g.131289980G>T	ENSP00000368542:p.Leu681Met		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.105319	0.77096	.	.	ENSG00000164398	ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.84326	2.69	0.80722	D	1	P;P;P;P;P;P;P	0.49862	0.929;0.919;0.868;0.883;0.799;0.919;0.919	P;P;B;P;P;P;P	0.51385	0.668;0.615;0.411;0.468;0.477;0.615;0.615	T	0.52668	-0.8545	10	0.56958	D	0.05	.	19.561	0.95373	0.0:0.0:1.0:0.0	.	681;696;671;681;606;706;706	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	M	706;696;606;606;706;692;681;590;681;661;681	ENSP00000368566:L706M;ENSP00000368574:L696M;ENSP00000349608:L606M;ENSP00000368557:L606M;ENSP00000296869:L706M;ENSP00000368548:L692M;ENSP00000368546:L681M;ENSP00000445154:L590M;ENSP00000368542:L681M;ENSP00000413329:L661M;ENSP00000442124:L681M	ENSP00000296869:L706M	L	-	1	2	ACSL6	131317879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.587000	0.67510	2.696000	0.92011	0.655000	0.94253	CTG		0.373	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1		NM_015256	
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77327151	77327151	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr16:77327151G>A	ENST00000282849.5	-	20	3429	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1004	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1004F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACAGGTCTTGGAACACTTGAG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											64.0	65.0	65.0					16																	77327151		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3011C>T	16.37:g.77327151G>A	ENSP00000282849:p.Ser1004Phe		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892296	0.52014	.	.	ENSG00000140873	ENST00000282849	T	0.68624	-0.34	6.07	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	H	0.99336	4.52	0.58432	D	0.999998	D;D	0.89917	1.0;0.958	D;D	0.74348	0.983;0.969	D	0.93448	0.6799	10	0.87932	D	0	.	14.5139	0.67807	0.0698:0.0:0.9302:0.0	.	1004;1004	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	F	1004	ENSP00000282849:S1004F	ENSP00000282849:S1004F	S	-	2	0	ADAMTS18	75884652	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	9.086000	0.94088	1.587000	0.49959	-0.145000	0.13849	TCC		0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62297275	62297275	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:62297275G>A	ENST00000378024.4	-	5	4888	c.4614C>T	c.(4612-4614)gaC>gaT	p.D1538D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1538					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.D1538D(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAACACCAAGGTCAGCCTTGG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											151.0	162.0	158.0					11																	62297275		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4614C>T	11.37:g.62297275G>A			A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060	
BAIAP3	8938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1389514	1389514	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr16:1389514G>A	ENST00000324385.5	+	5	581	c.423G>A	c.(421-423)gaG>gaA	p.E141E	BAIAP3_ENST00000397489.1_Silent_p.E123E|BAIAP3_ENST00000421665.2_Silent_p.E106E|BAIAP3_ENST00000562208.1_Intron|BAIAP3_ENST00000568887.1_Intron|BAIAP3_ENST00000426824.3_Silent_p.E106E|BAIAP3_ENST00000397488.2_Silent_p.E123E	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	141					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.E141E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCTCTACGAGGAGGCCCTGT	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	48.0	51.0					16																	1389514		2197	4299	6496	SO:0001819	synonymous_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.423G>A	16.37:g.1389514G>A			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																				0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			
BEST3	144453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70087467	70087467	+	Silent	SNP	G	G	A	rs370248128		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:70087467G>A	ENST00000330891.5	-	4	694	c.468C>T	c.(466-468)caC>caT	p.H156H	BEST3_ENST00000551160.1_Silent_p.H50H|BEST3_ENST00000266661.4_Silent_p.H50H|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.H50H|BEST3_ENST00000331471.4_Silent_p.H156H|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.H50H	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	156					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.H156H(2)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCAACCACGTGGTCCATTG	0.468																																																	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)						G		0,4406		0,0,2203	123.0	95.0	104.0		468	-3.9	0.9	12		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BEST3	NM_032735.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		156/669	70087467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.468C>T	12.37:g.70087467G>A			B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	CCDS8992.2																																																																																				0.468	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439	
L3HYPDH	112849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59942835	59942835	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr14:59942835T>G	ENST00000247194.4	-	3	889	c.776A>C	c.(775-777)aAc>aCc	p.N259T	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.N88T|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	259					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.N259T(1)								L-Proline(DB00172)	AACACAAATGTTGGTGGTTGG	0.333																																																	1	Substitution - Missense(1)	kidney(1)											141.0	148.0	145.0					14																	59942835		2203	4300	6503	SO:0001583	missense	0			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.776A>C	14.37:g.59942835T>G	ENSP00000247194:p.Asn259Thr		Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215411	0.79352	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.20598	2.06;2.06;2.06	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.91090	3.175	0.80722	D	1	P	0.37548	0.599	B	0.43809	0.432	T	0.53809	-0.8386	10	0.87932	D	0	.	15.6924	0.77464	0.0:0.0:0.0:1.0	.	259	Q96EM0	PRCM_HUMAN	T	259;88;88	ENSP00000247194:N259T;ENSP00000431608:N88T;ENSP00000423874:N88T	ENSP00000247194:N259T	N	-	2	0	C14orf149	59012588	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.483000	0.66838	2.103000	0.63969	0.482000	0.46254	AAC		0.333	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5		NM_144581	
TRMT1L	81627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185109279	185109279	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:185109279G>C	ENST00000367506.5	-	8	1203	c.935C>G	c.(934-936)tCt>tGt	p.S312C	TRMT1L_ENST00000367504.3_Missense_Mutation_p.S156C	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	312	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.S312C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAGTGTCACAGAATTTTCATT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											91.0	88.0	89.0					1																	185109279		2203	4299	6502	SO:0001583	missense	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.935C>G	1.37:g.185109279G>C	ENSP00000356476:p.Ser312Cys		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637226	0.47049	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	6.08	6.08	0.98989	.	0.047815	0.85682	D	0.000000	T	0.52451	0.1735	N	0.16656	0.425	0.54753	D	0.999983	B	0.23316	0.083	B	0.23574	0.047	T	0.47873	-0.9083	9	0.59425	D	0.04	-20.2839	20.6721	0.99693	0.0:0.0:1.0:0.0	.	312	Q7Z2T5	TRM1L_HUMAN	C	156;312	.	ENSP00000356474:S156C	S	-	2	0	TRMT1L	183375902	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.568000	0.67385	2.894000	0.99253	0.591000	0.81541	TCT		0.363	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1		NM_030934	
CAMTA2	23125	hgsc.bcm.edu	37	17	4872070	4872071	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:4872070_4872071insG	ENST00000348066.3	-	23	3712_3713	c.3589_3590insC	c.(3589-3591)cagfs	p.Q1197fs	SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P1219fs|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.Q1196fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.Q1190fs|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.Q1192fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.Q1202fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1197					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGTCCCGGCTGGGGAAGCCCT	0.629																																																	0																																										SO:0001589	frameshift_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3590dupC	17.37:g.4872074_4872074dupG	ENSP00000321813:p.Gln1197fs		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	CCDS11063.1																																																																																				0.629	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099	
CNTRL	11064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123917154	123917154	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr9:123917154C>A	ENST00000373855.1	+	27	4588	c.4328C>A	c.(4327-4329)gCa>gAa	p.A1443E	CNTRL_ENST00000373844.1_5'Flank|CNTRL_ENST00000373850.1_Missense_Mutation_p.A891E|CNTRL_ENST00000373847.1_Missense_Mutation_p.A891E|CNTRL_ENST00000238341.5_Missense_Mutation_p.A1443E|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1443					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A1443E(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGACTCCTGGCAGAGGCTGAG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											190.0	174.0	179.0					9																	123917154		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4328C>A	9.37:g.123917154C>A	ENSP00000362962:p.Ala1443Glu		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532879	0.85812	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.75589	0.98;0.98;0.98;0.98;-0.95	5.58	4.66	0.58398	.	.	.	.	.	T	0.70954	0.3283	L	0.55481	1.735	0.43321	D	0.995343	P	0.52577	0.954	P	0.47981	0.563	T	0.70644	-0.4815	9	0.02654	T	1	.	15.0791	0.72099	0.1428:0.8572:0.0:0.0	.	1443	Q7Z7A1	CNTRL_HUMAN	E	1443;1443;1443;199;891;891;112;112	ENSP00000362962:A1443E;ENSP00000238341:A1443E;ENSP00000362956:A891E;ENSP00000362953:A891E;ENSP00000413014:A112E	ENSP00000238341:A1443E	A	+	2	0	CNTRL	122956975	0.998000	0.40836	0.988000	0.46212	0.972000	0.66771	4.360000	0.59455	1.436000	0.47453	0.655000	0.94253	GCA		0.468	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1		NM_007018	
CARD9	64170	broad.mit.edu;ucsc.edu	37	9	139262211	139262211	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr9:139262211T>G	ENST00000371732.5	-	8	1312	c.1147A>C	c.(1147-1149)Aag>Cag	p.K383Q	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.K383Q	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	383					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.K383Q(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGCACCTGCTTGCGCAGCGCG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											38.0	33.0	35.0					9																	139262211		2196	4290	6486	SO:0001583	missense	64170			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1147A>C	9.37:g.139262211T>G	ENSP00000360797:p.Lys383Gln		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562523	0.45694	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.35973	1.28;1.28	3.85	3.85	0.44370	.	0.080216	0.48286	D	0.000181	T	0.50701	0.1631	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.69479	0.923;0.964;0.921	T	0.45673	-0.9245	10	0.26408	T	0.33	-43.7419	8.7613	0.34676	0.0:0.0:0.191:0.8089	.	279;383;383	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	Q	383	ENSP00000360799:K383Q;ENSP00000360797:K383Q	ENSP00000360797:K383Q	K	-	1	0	CARD9	138382032	0.995000	0.38212	0.762000	0.31397	0.079000	0.17450	2.517000	0.45529	1.744000	0.51775	0.533000	0.62120	AAG		0.692	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1		NM_052813	
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6690533	6690533	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:6690533T>G	ENST00000357008.2	-	32	4866	c.4703A>C	c.(4702-4704)gAa>gCa	p.E1568A	RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.E1561A|CHD4_ENST00000544484.1_Missense_Mutation_p.E1593A|CHD4_ENST00000309577.6_Missense_Mutation_p.E1596A	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1568					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E1596A(1)|p.E1568A(1)		central_nervous_system(2)	2						GAGGCTATTTTCCTCTATTTT	0.408																																					Colon(32;586 792 4568 16848 45314)												2	Substitution - Missense(2)	kidney(2)											179.0	168.0	171.0					12																	6690533		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4703A>C	12.37:g.6690533T>G	ENSP00000349508:p.Glu1568Ala		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945910	0.34377	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90385	-2.66;-2.64;-2.66;-2.64	5.67	5.67	0.87782	.	0.180584	0.47455	D	0.000232	D	0.88691	0.6505	M	0.64997	1.995	0.52501	D	0.999954	B;B;B	0.25809	0.135;0.034;0.058	B;B;B	0.24701	0.055;0.025;0.055	D	0.85276	0.1059	10	0.26408	T	0.33	-9.3652	14.7855	0.69800	0.0:0.0:0.0:1.0	.	1596;1568;1561	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	1593;1561;1596;1568;1542	ENSP00000440392:E1593A;ENSP00000440542:E1561A;ENSP00000312419:E1596A;ENSP00000349508:E1568A	ENSP00000312419:E1596A	E	-	2	0	CHD4	6560794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.729000	0.68538	2.288000	0.76882	0.533000	0.62120	GAA		0.408	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273	
CHRNB4	1143	hgsc.bcm.edu	37	15	78922214	78922215	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr15:78922214_78922215insC	ENST00000261751.3	-	5	543_544	c.432_433insG	c.(430-435)ctgcccfs	p.P145fs	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	145					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATGGCAGGGGGCAGCCACAGGA	0.579																																																	0																																										SO:0001589	frameshift_variant	1143			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.433dupG	15.37:g.78922215_78922215dupC	ENSP00000261751:p.Pro145fs		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Frame_Shift_Ins	INS	ENST00000261751.3	37	CCDS10306.1																																																																																				0.579	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			
COL28A1	340267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	7398296	7398296	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:7398296T>G	ENST00000399429.3	-	35	3486	c.3346A>C	c.(3346-3348)Aag>Cag	p.K1116Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1116	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K1116Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGACATTCCTTTTCACTGTTG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											186.0	171.0	176.0					7																	7398296		1918	4139	6057	SO:0001583	missense	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3346A>C	7.37:g.7398296T>G	ENSP00000382356:p.Lys1116Gln		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	6.677	0.493491	0.12702	.	.	ENSG00000215018	ENST00000453441;ENST00000399429	T;T	0.56103	0.48;0.48	4.84	3.61	0.41365	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.589898	0.14307	U	0.327925	T	0.32971	0.0847	L	0.28274	0.84	0.27250	N	0.958909	B	0.12013	0.005	B	0.09377	0.004	T	0.06481	-1.0824	10	0.31617	T	0.26	-1.3269	3.0425	0.06142	0.14:0.0823:0.145:0.6327	.	1116	Q2UY09	COSA1_HUMAN	Q	71;1116	ENSP00000391380:K71Q;ENSP00000382356:K1116Q	ENSP00000382356:K1116Q	K	-	1	0	COL28A1	7364821	0.270000	0.24152	1.000000	0.80357	0.068000	0.16541	0.425000	0.21346	2.182000	0.69389	0.529000	0.55759	AAG		0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1		NM_001037763	
DGCR2	9993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19076918	19076918	+	Silent	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr22:19076918C>A	ENST00000263196.7	-	2	412	c.165G>T	c.(163-165)gcG>gcT	p.A55A	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000545799.1_Silent_p.A55A	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	55	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A55A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCTCGCAAGTCGCCCAGCCGT	0.607																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.165G>T	22.37:g.19076918C>A			A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	CCDS33598.1																																																																																				0.607	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1		NM_005137	
DSC1	1823	broad.mit.edu	37	18	28720256	28720256	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr18:28720256G>A	ENST00000257198.5	-	10	1530	c.1269C>T	c.(1267-1269)aaC>aaT	p.N423N	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.N423N	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	423	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N423N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGACTTCATAGTTCAATGGCT	0.313																																																	2	Substitution - coding silent(2)	kidney(2)											55.0	51.0	52.0					18																	28720256		2203	4300	6503	SO:0001819	synonymous_variant	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1269C>T	18.37:g.28720256G>A			Q9HB01	Silent	SNP	ENST00000257198.5	37	CCDS11894.1																																																																																				0.313	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1		NM_004948, NM_024421	
FOXP2	93986	broad.mit.edu	37	7	114269991	114269991	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:114269991G>A	ENST00000393494.2	+	5	807	c.528G>A	c.(526-528)caG>caA	p.Q176Q	FOXP2_ENST00000390668.3_Silent_p.Q200Q|FOXP2_ENST00000378237.3_Silent_p.Q176Q|FOXP2_ENST00000393500.3_Silent_p.Q101Q|FOXP2_ENST00000393498.2_Silent_p.Q156Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q176Q|FOXP2_ENST00000393489.3_Silent_p.Q84Q|FOXP2_ENST00000408937.3_Silent_p.Q201Q|FOXP2_ENST00000360232.4_Silent_p.Q176Q|FOXP2_ENST00000403559.4_Silent_p.Q193Q|FOXP2_ENST00000393491.3_Silent_p.Q84Q			O15409	FOXP2_HUMAN	forkhead box P2	176	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q201Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacagcagcaacaacagc	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	37.0	38.0					7																	114269991		2199	4286	6485	SO:0001819	synonymous_variant	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.528G>A	7.37:g.114269991G>A			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491	
GMPPB	29925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49760159	49760159	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr3:49760159T>C	ENST00000480687.1	-	6	547	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	GMPPB_ENST00000308375.6_Missense_Mutation_p.Y144C|GMPPB_ENST00000308388.6_Missense_Mutation_p.Y144C|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	144					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)	p.Y144C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACCACACCGTACTTGGAGGG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											67.0	63.0	65.0					3																	49760159		2203	4300	6503	SO:0001583	missense	29925			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.431A>G	3.37:g.49760159T>C	ENSP00000418565:p.Tyr144Cys		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839717	0.71488	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	D;D;D	0.83163	-1.69;-1.69;-1.69	4.58	4.58	0.56647	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95403	0.8491	10	0.87932	D	0	-13.9892	13.2707	0.60159	0.0:0.0:0.0:1.0	.	144;144	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	C	144	ENSP00000418565:Y144C;ENSP00000309092:Y144C;ENSP00000311130:Y144C	ENSP00000309092:Y144C	Y	-	2	0	GMPPB	49735163	1.000000	0.71417	0.906000	0.35671	0.983000	0.72400	7.760000	0.85248	1.922000	0.55676	0.379000	0.24179	TAC		0.542	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334	
GPR171	29909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150917098	150917098	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr3:150917098G>A	ENST00000309180.5	-	3	306	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	26					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L26F(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCAACAAGGAAAACTAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											48.0	51.0	50.0					3																	150917098		2203	4300	6503	SO:0001583	missense	29909			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.76C>T	3.37:g.150917098G>A	ENSP00000308479:p.Leu26Phe		D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359129	0.61403	.	.	ENSG00000174946	ENST00000309180	T	0.44083	0.93	5.54	5.54	0.83059	.	0.232438	0.34959	N	0.003548	T	0.23727	0.0574	N	0.08118	0	0.40153	D	0.976977	P	0.49253	0.921	B	0.38880	0.284	T	0.11203	-1.0597	10	0.44086	T	0.13	-18.0661	14.354	0.66724	0.0:0.0:0.852:0.148	.	26	O14626	GP171_HUMAN	F	26	ENSP00000308479:L26F	ENSP00000308479:L26F	L	-	1	0	GPR171	152399788	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	5.108000	0.64609	2.607000	0.88179	0.655000	0.94253	CTT		0.368	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1		NM_013308	
GPR89B	51463	hgsc.bcm.edu	37	1	147415632	147415632	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:147415632delA	ENST00000314163.7	+	4	431	c.287delA	c.(286-288)tatfs	p.Y96fs		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	96					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					TACATTGGCTATTTTATTGTG	0.378																																																	0													74.0	87.0	82.0					1																	147415632		2201	4296	6497	SO:0001589	frameshift_variant	51463			U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.287delA	1.37:g.147415632delA	ENSP00000358233:p.Tyr96fs		A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Frame_Shift_Del	DEL	ENST00000314163.7	37	CCDS930.1																																																																																				0.378	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2		NM_016334	
GPRIN2	9721	hgsc.bcm.edu	37	10	46999591	46999592	+	In_Frame_Ins	INS	-	-	ATGAGGGAG	rs112620425	byFrequency	TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr10:46999591_46999592insATGAGGGAG	ENST00000374317.1	+	3	984_985	c.711_712insATGAGGGAG	c.(712-714)atg>ATGAGGGAGatg	p.238_238M>MREM	GPRIN2_ENST00000374314.4_In_Frame_Ins_p.238_238M>MREM	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	238								p.G237_M238insMRE(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TACTCTGTGGCATGAGGGAGGT	0.629														2399	0.479034	0.4697	0.4856	5008	,	,		38874	0.4782		0.4761	False		,,,				2504	0.4908																1	Insertion - In frame(1)	breast(1)								2080,27,2157		11,3,2055,0,24,39						0.9	0.0		dbSNP_130	49	3974,98,4180		16,7,3935,0,91,77	no	codingComplex	GPRIN2	NM_014696.3		27,10,5990,0,115,116	A1A1,A1A2,A1R,A2A2,A2R,RR		49.3456,49.4137,49.3688				6054,125,6337				SO:0001652	inframe_insertion	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.712_720dupATGAGGGAG	10.37:g.46999592_46999600dupATGAGGGAG	Exception_encountered		Q5SVF0	In_Frame_Ins	INS	ENST00000374317.1	37	CCDS31192.1																																																																																				0.629	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1		NM_014696	
HEXDC	284004	broad.mit.edu	37	17	80400154	80400154	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:80400154A>C	ENST00000327949.9	+	12	1366	c.1355A>C	c.(1354-1356)cAc>cCc	p.H452P	HEXDC_ENST00000337014.6_Missense_Mutation_p.T482P|HEXDC_ENST00000577944.1_Silent_p.A454A			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	452					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.T482P(4)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAAACGTGCACCCCAGCCTG	0.677																																																	4	Substitution - Missense(4)	lung(2)|kidney(2)											19.0	23.0	22.0					17																	80400154		2027	4180	6207	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1355A>C	17.37:g.80400154A>C	ENSP00000332634:p.His452Pro		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.539|9.539	1.112830|1.112830	0.20795|0.20795	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000327949|ENST00000337014	T|T	0.30182|0.38077	1.54|1.16	5.25|5.25	-6.61|-6.61	0.01818|0.01818	.|.	.|36.350000	.|0.00166	.|N	.|0.000000	T|T	0.29355|0.29355	0.0731|0.0731	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|D	0.47604|0.53151	0.898|0.958	B|P	0.41271|0.47981	0.352|0.563	T|T	0.44862|0.44862	-0.9300|-0.9300	8|8	0.36615|.	T|.	0.2|.	-1.361|-1.361	1.0988|1.0988	0.01679|0.01679	0.252:0.1099:0.3008:0.3374|0.252:0.1099:0.3008:0.3374	.|.	452|482	Q8WVB3|Q8WVB3-2	HEXDC_HUMAN|.	P|P	452|482	ENSP00000332634:H452P|ENSP00000337854:T482P	ENSP00000332634:H452P|.	H|T	+|+	2|1	0|0	HEXDC|HEXDC	77993443|77993443	0.001000|0.001000	0.12720|0.12720	0.039000|0.039000	0.18376|0.18376	0.795000|0.795000	0.44927|0.44927	0.116000|0.116000	0.15561|0.15561	-1.797000|-1.797000	0.01252|0.01252	-0.496000|-0.496000	0.04628|0.04628	CAC|ACC		0.677	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1		NM_173620	
HNRNPA1	3178	broad.mit.edu;hgsc.bcm.edu	37	12	54678158	54678158	+	Intron	SNP	A	A	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:54678158A>T	ENST00000340913.6	+	10	1176				HNRNPA1_ENST00000330752.8_Intron|HNRNPA1_ENST00000546500.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Intron	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1						cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GATGAACCCAATAACCCTAAT	0.348																																					Colon(83;502 1289 8436 16406 24870)												0													51.0	48.0	49.0					12																	54678158		692	1591	2283	SO:0001627	intron_variant	664709			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.1116+57A>T	12.37:g.54678158A>T			A8K4Z8|Q3MIB7|Q6PJZ7	RNA	SNP	ENST00000340913.6	37	CCDS44909.1																																																																																				0.348	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1		NM_031157	
IGF2BP3	10643	broad.mit.edu;hgsc.bcm.edu	37	7	23508130	23508130	+	Missense_Mutation	SNP	T	T	A	rs372260584		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:23508130T>A	ENST00000258729.3	-	2	563	c.207A>T	c.(205-207)gaA>gaT	p.E69D	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	69	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.E69D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGTGCTCAACTTCTATGGGTT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											253.0	237.0	242.0					7																	23508130		2203	4300	6503	SO:0001583	missense	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.207A>T	7.37:g.23508130T>A	ENSP00000258729:p.Glu69Asp		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172211	0.94807	.	.	ENSG00000136231	ENST00000258729	T	0.09255	3.0	5.3	4.13	0.48395	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.62723	1.935	0.58432	D	0.999999	D	0.60575	0.988	D	0.63113	0.911	T	0.00589	-1.1656	10	0.40728	T	0.16	-6.8042	11.6989	0.51558	0.0:0.0729:0.0:0.927	.	69	O00425	IF2B3_HUMAN	D	69	ENSP00000258729:E69D	ENSP00000258729:E69D	E	-	3	2	IGF2BP3	23474655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.716000	0.47219	2.123000	0.65237	0.528000	0.53228	GAA		0.547	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2		NM_006547	
IKBKAP	8518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111640376	111640376	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr9:111640376C>T	ENST00000374647.5	-	35	4061	c.3754G>A	c.(3754-3756)Gga>Aga	p.G1252R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G903R|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1252					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.G1252*(1)|p.G1252R(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATTCCCTTCCTTGTTCATCA	0.393																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|kidney(1)											94.0	92.0	92.0					9																	111640376		2203	4300	6503	SO:0001583	missense	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3754G>A	9.37:g.111640376C>T	ENSP00000363779:p.Gly1252Arg		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483129	0.84747	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26957	2.08;1.7	5.53	5.53	0.82687	.	0.292734	0.33382	N	0.004966	T	0.25269	0.0614	L	0.40543	1.245	0.36889	D	0.889776	P	0.35923	0.528	B	0.34779	0.189	T	0.17684	-1.0361	10	0.87932	D	0	-10.5692	17.0018	0.86383	0.0:1.0:0.0:0.0	.	1252	O95163	ELP1_HUMAN	R	1252;903	ENSP00000363779:G1252R;ENSP00000439367:G903R	ENSP00000363779:G1252R	G	-	1	0	IKBKAP	110680197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.669000	0.68081	2.876000	0.98609	0.643000	0.83706	GGA		0.393	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62550236	62550236	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:62550236C>T	ENST00000371158.2	+	33	4407	c.4293C>T	c.(4291-4293)gtC>gtT	p.V1431V	INADL_ENST00000316485.6_Silent_p.V1431V|INADL_ENST00000543708.1_Silent_p.V215V|INADL_ENST00000545929.1_Silent_p.V104V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1431					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.V1431V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCCCATTGTCCCTGGACAGG	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	88.0	90.0					1																	62550236		2203	4300	6503	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4293C>T	1.37:g.62550236C>T			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.488	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605	
JMJD6	23210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74719948	74719948	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:74719948A>T	ENST00000397625.4	-	3	825	c.711T>A	c.(709-711)aaT>aaA	p.N237K	METTL23_ENST00000588783.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.N237K|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.N237K	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	237	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.N237K(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GATAAATAACATTAAACCAGG	0.493																																																	2	Substitution - Missense(2)	kidney(2)											148.0	143.0	145.0					17																	74719948		1907	4124	6031	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.711T>A	17.37:g.74719948A>T	ENSP00000380750:p.Asn237Lys		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	A	4.418	0.077361	0.08485	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.70869	-0.52;-0.52	5.31	-3.25	0.05079	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.446090	0.28865	N	0.013882	T	0.36853	0.0982	N	0.10707	0.03	0.36550	D	0.871774	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.10450	0.005;0.001;0.003	T	0.37911	-0.9685	10	0.05959	T	0.93	-5.1851	6.0881	0.19978	0.2789:0.108:0.5072:0.1059	.	237;237;237	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	K	237	ENSP00000394085:N237K;ENSP00000380750:N237K	ENSP00000302916:N237K	N	-	3	2	JMJD6	72231543	0.017000	0.18338	0.007000	0.13788	0.980000	0.70556	-0.068000	0.11561	-0.684000	0.05183	-0.304000	0.09214	AAT		0.493	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1		NM_015167	
HYI	81888	broad.mit.edu;hgsc.bcm.edu	37	1	43914130	43914130	+	IGR	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:43914130C>A	ENST00000372425.4	-	0	1115				SZT2_ENST00000562955.1_Missense_Mutation_p.S3258Y|SZT2_ENST00000372442.1_Missense_Mutation_p.S2416Y|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)	p.S2416Y(2)|p.S3258Y(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGCCAAATCCATTGGGGAC	0.627																																																	3	Substitution - Missense(3)	kidney(3)											20.0	23.0	22.0					1																	43914130		2203	4299	6502	SO:0001628	intergenic_variant	0				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43914130C>A			D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625500	0.46840	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.66	4.75	0.60458	.	0.160340	0.56097	D	0.000021	T	0.53753	0.1816	L	0.43152	1.355	0.26427	N	0.975997	D;D	0.89917	0.998;1.0	P;D	0.91635	0.902;0.999	T	0.46638	-0.9177	9	0.56958	D	0.05	.	10.3368	0.43854	0.0:0.7947:0.1343:0.071	.	3315;3258	Q5T011;Q5T011-5	SZT2_HUMAN;.	Y	2416	.	ENSP00000361519:S2416Y	S	+	2	0	SZT2	43686717	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.829000	0.69316	1.394000	0.46624	-0.150000	0.13652	TCC		0.627	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_031207	
KIAA0556	23247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27732992	27732992	+	Silent	SNP	T	T	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr16:27732992T>C	ENST00000261588.4	+	14	1738	c.1719T>C	c.(1717-1719)gtT>gtC	p.V573V	CTD-2049O4.1_ENST00000563052.1_RNA|Y_RNA_ENST00000364501.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	573						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V573V(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGATCAAGGTTCGGAATTACT	0.537																																																	2	Substitution - coding silent(2)	kidney(2)											76.0	70.0	72.0					16																	27732992		2197	4300	6497	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1719T>C	16.37:g.27732992T>C			A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.537	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1		NM_015202	
KRTAP13-1	140258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31768847	31768847	+	Missense_Mutation	SNP	G	G	C	rs151147550	byFrequency	TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr21:31768847G>C	ENST00000355459.2	+	1	456	c.443G>C	c.(442-444)cGc>cCc	p.R148P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	148						intermediate filament (GO:0005882)		p.R148P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATTCTGCCGCCCAACCTAC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											56.0	53.0	54.0					21																	31768847		2203	4300	6503	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.443G>C	21.37:g.31768847G>C	ENSP00000347635:p.Arg148Pro		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	g	8.990	0.977541	0.18812	.	.	ENSG00000198390	ENST00000355459	T	0.03920	3.76	4.54	-8.89	0.00785	.	0.929657	0.08870	N	0.881636	T	0.04770	0.0129	M	0.71206	2.165	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41574	-0.9501	10	0.66056	D	0.02	.	2.0605	0.03591	0.47:0.0856:0.1654:0.2789	.	148	Q8IUC0	KR131_HUMAN	P	148	ENSP00000347635:R148P	ENSP00000347635:R148P	R	+	2	0	KRTAP13-1	30690718	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-6.748000	0.00055	-2.071000	0.00880	-0.844000	0.03045	CGC		0.517	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			
LRRC66	339977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	52861345	52861345	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr4:52861345C>A	ENST00000343457.3	-	4	1849	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	615						integral component of membrane (GO:0016021)		p.D615Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCTGCGAGTCCCAAAGTGAC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	72.0					4																	52861345		1946	4165	6111	SO:0001583	missense	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1843G>T	4.37:g.52861345C>A	ENSP00000341944:p.Asp615Tyr			Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534118	0.27475	.	.	ENSG00000188993	ENST00000343457	T	0.30182	1.54	4.39	3.54	0.40534	.	2.861360	0.01189	N	0.007267	T	0.31263	0.0791	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.47674	-0.9099	10	0.72032	D	0.01	1.274	9.7975	0.40744	0.0:0.8979:0.0:0.1021	.	615	Q68CR7	LRC66_HUMAN	Y	615	ENSP00000341944:D615Y	ENSP00000341944:D615Y	D	-	1	0	LRRC66	52556102	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	-0.135000	0.10420	2.438000	0.82558	0.591000	0.81541	GAC		0.493	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611	
MYT1L	23040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1983506	1983506	+	Missense_Mutation	SNP	T	T	C	rs370776058		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr2:1983506T>C	ENST00000399161.2	-	6	791	c.44A>G	c.(43-45)aAa>aGa	p.K15R	MYT1L_ENST00000428368.2_Missense_Mutation_p.K15R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	15					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K15R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGAACCCCTTTGGACCGCGT	0.597																																																	1	Substitution - Missense(1)	kidney(1)						T	ARG/LYS	1,4017		0,1,2008	50.0	58.0	55.0		44	5.1	1.0	2		55	0,8348		0,0,4174	no	missense	MYT1L	NM_015025.2	26	0,1,6182	CC,CT,TT		0.0,0.0249,0.0081	probably-damaging	15/1185	1983506	1,12365	2009	4174	6183	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.44A>G	2.37:g.1983506T>C	ENSP00000382114:p.Lys15Arg		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	T	18.69	3.677105	0.68042	2.49E-4	0.0	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.61859	0.07;0.07	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.49126	1.545	0.52099	D	0.999943	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	T	0.69514	-0.5125	10	0.44086	T	0.13	-36.6878	15.192	0.73053	0.0:0.0:0.0:1.0	.	15;15	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	15	ENSP00000382114:K15R;ENSP00000396103:K15R	ENSP00000295067:K15R	K	-	2	0	MYT1L	1962513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.795000	0.75140	2.054000	0.61138	0.482000	0.46254	AAA		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025	
NDUFA4L2	56901	hgsc.bcm.edu	37	12	57630850	57630860	+	Frame_Shift_Del	DEL	CAAGACTGGCT	CAAGACTGGCT	-	rs373331973		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	CAAGACTGGCT	CAAGACTGGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:57630850_57630860delCAAGACTGGCT	ENST00000554503.1	-	1	261_271	c.9_19delAGCCAGTCTTG	c.(7-21)ggagccagtcttgggfs	p.GASLG3fs	NDUFA4L2_ENST00000557276.1_5'Flank|NDUFA4L2_ENST00000556732.1_Frame_Shift_Del_p.GASLG3fs|NDUFA4L2_ENST00000393825.1_Frame_Shift_Del_p.GASLG3fs			Q9NRX3	NUA4L_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2	3										lung(1)|prostate(1)	2						AAGCGGGCCCCAAGACTGGCTCCTGCCATAT	0.602																																																	0																																										SO:0001589	frameshift_variant	56901			BC011910	CCDS8935.1	12q13.3	2014-05-29			ENSG00000185633	ENSG00000185633			29836	protein-coding gene	gene with protein product							Standard	NM_020142		Approved	NUOMS, FLJ26118	uc001sno.3	Q9NRX3	OTTHUMG00000171275	ENST00000554503.1:c.9_19delAGCCAGTCTTG	12.37:g.57630850_57630860delCAAGACTGGCT	ENSP00000450664:p.Gly3fs		Q6IAH9	Frame_Shift_Del	DEL	ENST00000554503.1	37	CCDS8935.1																																																																																				0.602	NDUFA4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412744.1		NM_020142	
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135277919	135277919	+	Silent	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:135277919C>A	ENST00000285968.6	+	12	1835	c.1809C>A	c.(1807-1809)ctC>ctA	p.L603L	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	603					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L603L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTTGCAGCTCACGTCTACCA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											155.0	140.0	145.0					7																	135277919		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1809C>A	7.37:g.135277919C>A			A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	CCDS34759.1																																																																																				0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			
OR9G4	283189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56510375	56510375	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:56510375A>G	ENST00000302957.3	-	1	912	c.913T>C	c.(913-915)Tat>Cat	p.Y305H		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y305H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTCAGGCTATAGATGAGAGGG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											172.0	150.0	157.0					11																	56510375		2201	4296	6497	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.913T>C	11.37:g.56510375A>G	ENSP00000307515:p.Tyr305His		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107073	0.77096	.	.	ENSG00000172457	ENST00000302957	T	0.61859	0.07	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35936	N	0.002885	T	0.81880	0.4916	H	0.94345	3.525	0.47547	D	0.999451	D	0.76494	0.999	D	0.83275	0.996	D	0.86967	0.2095	10	0.87932	D	0	-27.5163	13.8217	0.63325	1.0:0.0:0.0:0.0	.	305	Q8NGQ1	OR9G4_HUMAN	H	305	ENSP00000307515:Y305H	ENSP00000307515:Y305H	Y	-	1	0	OR9G4	56266951	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.108000	0.77055	2.131000	0.65755	0.523000	0.50628	TAT		0.428	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1		NM_001005284	
OR4D9	390199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59282457	59282457	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:59282457C>T	ENST00000329328.3	+	1	72	c.72C>T	c.(70-72)agC>agT	p.S24S		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S24S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GAGAACTGAGCCAGGTCTTAT	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											165.0	163.0	163.0					11																	59282457		2201	4295	6496	SO:0001819	synonymous_variant	390199			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.72C>T	11.37:g.59282457C>T			Q6IFF3	Silent	SNP	ENST00000329328.3	37	CCDS31564.1																																																																																				0.413	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1		NM_001004711	
PABPC3	5042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25670664	25670664	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:25670664A>C	ENST00000281589.3	+	1	365	c.328A>C	c.(328-330)Att>Ctt	p.I110L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	110	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.I110L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGATAAGTCCATTAATAATAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											114.0	110.0	111.0					13																	25670664		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.328A>C	13.37:g.25670664A>C	ENSP00000281589:p.Ile110Leu		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929885	0.52759	.	.	ENSG00000151846	ENST00000281589	T	0.15952	2.38	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.47455	U	0.000225	T	0.21186	0.0510	L	0.33753	1.03	0.41461	D	0.98804	P	0.39576	0.679	P	0.55871	0.786	T	0.05533	-1.0879	10	0.87932	D	0	.	5.327	0.15913	0.9999:0.0:1.0E-4:0.0	.	110	Q9H361	PABP3_HUMAN	L	110	ENSP00000281589:I110L	ENSP00000281589:I110L	I	+	1	0	PABPC3	24568664	1.000000	0.71417	0.039000	0.18376	0.017000	0.09413	4.597000	0.61062	0.469000	0.27268	0.254000	0.18369	ATT		0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979	
PCGF1	84759	broad.mit.edu	37	2	74732306	74732306	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr2:74732306C>T	ENST00000233630.6	-	9	1655	c.744G>A	c.(742-744)ttG>ttA	p.L248L	LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000341396.2_5'Flank|RP11-523H20.3_ENST00000606287.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'UTR|LBX2_ENST00000460508.3_5'Flank|LBX2_ENST00000550249.1_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	248	Sufficient for interaction with BCOR and BCORL1.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.L236L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						ATTGTAAAAGCAAAGGGGATG	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											36.0	38.0	37.0					2																	74732306		2202	4300	6502	SO:0001819	synonymous_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.744G>A	2.37:g.74732306C>T			Q7Z506	Silent	SNP	ENST00000233630.6	37	CCDS1946.2																																																																																				0.507	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1		NM_032673	
PDGFRA	5156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55156689	55156690	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr4:55156689_55156690GG>TT	ENST00000257290.5	+	22	3421_3422	c.3090_3091GG>TT	c.(3088-3093)gaGGag>gaTTag	p.1030_1031EE>D*	FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.790_791EE>D*	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1030					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E1030D(1)|p.E1030>?(1)|p.E1031*(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTGTCCCTGAGGAGGAGGACCT	0.584			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001587	stop_gained	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	Exception_encountered	4.37:g.55156689_55156690delinsTT	ENSP00000257290:p.E1030_E1031delinsD*		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.584	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206	
PDS5B	23047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33261392	33261392	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:33261392A>C	ENST00000315596.10	+	12	1511	c.1325A>C	c.(1324-1326)cAt>cCt	p.H442P		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	442					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.H442P(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAATTGCTACATATATATTAT	0.303																																																	1	Substitution - Missense(1)	kidney(1)											57.0	59.0	58.0					13																	33261392		1820	4086	5906	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1325A>C	13.37:g.33261392A>C	ENSP00000313851:p.His442Pro		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145036	0.57044	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.79040	-0.1966	9	0.44086	T	0.13	-7.4961	16.1778	0.81874	1.0:0.0:0.0:0.0	.	442;442	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	P	442	.	ENSP00000313851:H442P	H	+	2	0	PDS5B	32159392	1.000000	0.71417	0.834000	0.33040	0.101000	0.19017	9.181000	0.94874	2.279000	0.76181	0.533000	0.62120	CAT		0.303	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3		NM_015032	
PHLDB1	23187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118498567	118498567	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:118498567C>G	ENST00000361417.2	+	7	1439	c.1028C>G	c.(1027-1029)gCc>gGc	p.A343G	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A343G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	343								p.A343G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTGGCGGAGGCCCGGAGAGCC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											19.0	22.0	21.0					11																	118498567		2198	4290	6488	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1028C>G	11.37:g.118498567C>G	ENSP00000354498:p.Ala343Gly		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857330	0.51376	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000543207;ENST00000356063	T;T	0.30714	1.52;1.55	5.13	5.13	0.70059	.	0.400810	0.26478	N	0.024153	T	0.25975	0.0633	L	0.31664	0.95	0.80722	D	1	P;B;B;P	0.49783	0.928;0.372;0.187;0.565	P;B;B;B	0.44518	0.452;0.163;0.055;0.172	T	0.01578	-1.1320	10	0.17832	T	0.49	-27.5456	15.6133	0.76744	0.0:1.0:0.0:0.0	.	342;343;343;343	B4DIX4;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	G	343;102;342;343	ENSP00000354498:A343G;ENSP00000348359:A343G	ENSP00000348359:A343G	A	+	2	0	PHLDB1	118003777	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.432000	0.59922	2.667000	0.90743	0.563000	0.77884	GCC		0.662	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		NM_015157	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47162787	47162787	+	Nonsense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr3:47162787A>C	ENST00000409792.3	-	3	3381	c.3339T>G	c.(3337-3339)taT>taG	p.Y1113*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1113					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.Y610*(1)|p.Y1113*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTTTTCCTCATACAAATGTC	0.373			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											125.0	130.0	129.0					3																	47162787		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3339T>G	3.37:g.47162787A>C	ENSP00000386759:p.Tyr1113*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	36	5.905111	0.97087	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.31	1.7	0.24286	.	0.000000	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9622	0.35854	0.7903:0.0:0.2097:0.0	.	.	.	.	X	1113;1113;1113;1069	.	.	Y	-	3	2	SETD2	47137791	0.999000	0.42202	0.986000	0.45419	0.537000	0.34900	0.581000	0.23819	0.150000	0.19136	-0.290000	0.09829	TAT		0.373	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SLC3A2	6520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62652670	62652670	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:62652670C>T	ENST00000377890.2	+	9	1311	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Silent_p.N319N|SLC3A2_ENST00000338663.7_Silent_p.N280N|SLC3A2_ENST00000535296.1_Silent_p.N350N|SLC3A2_ENST00000377891.2_Silent_p.N382N|SLC3A2_ENST00000377892.1_Silent_p.N412N|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	381					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.N412N(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CGGGGACTAACTCCTCCGACC	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	104.0	106.0					11																	62652670		2201	4298	6499	SO:0001819	synonymous_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1143C>T	11.37:g.62652670C>T			Q13543	Silent	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197781	0.09652	.	.	ENSG00000168003	ENST00000539507	.	.	.	4.51	-2.93	0.05598	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.21740	N	0.999564	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-0.1927	9.7545	0.40496	0.1202:0.2632:0.6166:0.0	.	.	.	.	F	8	.	.	L	+	1	0	SLC3A2	62409246	0.001000	0.12720	0.124000	0.21820	0.713000	0.41058	-0.475000	0.06599	-0.152000	0.11156	0.313000	0.20887	CTC		0.532	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1		NM_001012661	
SLC41A1	254428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205767800	205767800	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:205767800G>T	ENST00000367137.3	-	6	1855	c.841C>A	c.(841-843)Ctg>Atg	p.L281M	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	281					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.L281M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGCTCACTCAGTTCCAGGTAG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											85.0	87.0	86.0					1																	205767800		2203	4300	6503	SO:0001583	missense	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.841C>A	1.37:g.205767800G>T	ENSP00000356105:p.Leu281Met		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553668	0.65425	.	.	ENSG00000133065	ENST00000367137	T	0.35048	1.33	5.88	3.98	0.46160	.	0.575678	0.19089	N	0.123027	T	0.32194	0.0821	L	0.61387	1.9	0.43885	D	0.996509	B	0.30793	0.295	B	0.33521	0.165	T	0.06499	-1.0823	10	0.22706	T	0.39	.	5.1406	0.14957	0.0695:0.1299:0.5318:0.2689	.	281	Q8IVJ1	S41A1_HUMAN	M	281	ENSP00000356105:L281M	ENSP00000356105:L281M	L	-	1	2	SLC41A1	204034423	1.000000	0.71417	0.940000	0.37924	0.998000	0.95712	1.738000	0.38207	0.801000	0.34066	0.655000	0.94253	CTG		0.547	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			
SLC5A8	160728	hgsc.bcm.edu	37	12	101560445	101560445	+	Silent	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:101560445G>T	ENST00000536262.2	-	12	1911	c.1353C>A	c.(1351-1353)gcC>gcA	p.A451A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAGAGAAATGGCAAATCCAG	0.378																																					GBM(60;420 1056 13605 22380 47675)												0													84.0	75.0	78.0					12																	101560445		2203	4300	6503	SO:0001819	synonymous_variant	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1353C>A	12.37:g.101560445G>T				Silent	SNP	ENST00000536262.2	37	CCDS9080.1																																																																																				0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1		NM_145913	
SNHG5	387066	broad.mit.edu;hgsc.bcm.edu	37	6	86387116	86387116	+	RNA	SNP	T	T	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr6:86387116T>C	ENST00000384338.1	-	0	0				SNHG5_ENST00000364995.1_RNA	NR_002743.2				small nucleolar RNA host gene 5 (non-protein coding)																		CACTGATCTCTAAGCAAACAG	0.413																																																	0													53.0	52.0	52.0					6																	86387116		876	1991	2867			387066			BC009220		6q14.3	2012-10-19	2008-08-14	2006-07-31	ENSG00000203875	ENSG00000203875		"""Long non-coding RNAs"", ""-"""	21026	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 44"", ""long intergenic non-protein coding RNA 44"""	613263	"""chromosome 6 open reading frame 160"""	C6orf160		10792466	Standard	NR_003038		Approved	MGC16362, bA33E24.2, U50HG, NCRNA00044, LINC00044	uc003plb.4		OTTHUMG00000015144		6.37:g.86387116T>C				RNA	SNP	ENST00000384338.1	37																																																																																					0.413	SNHG5-202	KNOWN	basic	snoRNA	processed_transcript			NR_003038	
SPATA22	84690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3370723	3370723	+	Missense_Mutation	SNP	T	T	C	rs371455241		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:3370723T>C	ENST00000573128.1	-	3	652	c.169A>G	c.(169-171)Aca>Gca	p.T57A	SPATA22_ENST00000397168.3_Missense_Mutation_p.T57A|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.T57A|SPATA22_ENST00000575375.1_Missense_Mutation_p.T57A|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000268981.5_Missense_Mutation_p.T57A			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	57					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.T57A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTCTTACCTGTAGGTAGAGGA	0.279																																																	1	Substitution - Missense(1)	kidney(1)						T	ALA/THR,,ALA/THR,ALA/THR,ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	87.0	89.0	88.0		169,,169,169,169,169	-1.5	1.0	17		88	0,8596		0,0,4298	no	missense,intron,missense,missense,missense,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	58,,58,58,58,58	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign,,benign,benign,benign,benign	57/364,,57/364,57/364,57/270,57/364	3370723	1,13001	2203	4298	6501	SO:0001583	missense	84690			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.169A>G	17.37:g.3370723T>C	ENSP00000459580:p.Thr57Ala		B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	t	12.06	1.825127	0.32237	2.27E-4	0.0	ENSG00000141255	ENST00000397168;ENST00000268981	T;T	0.18016	2.27;2.24	5.28	-1.48	0.08745	.	0.288857	0.25148	N	0.032776	T	0.07188	0.0182	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.33828	-0.9853	10	0.18276	T	0.48	.	0.2792	0.00242	0.3291:0.1507:0.2383:0.2818	.	57;57	B4DXB1;Q8NHS9	.;SPT22_HUMAN	A	57	ENSP00000380354:T57A;ENSP00000268981:T57A	ENSP00000268981:T57A	T	-	1	0	SPATA22	3317473	0.450000	0.25697	0.996000	0.52242	0.901000	0.52897	-0.514000	0.06298	-0.165000	0.10908	-0.400000	0.06385	ACA		0.279	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2		NM_032598	
TAAR6	319100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132892288	132892288	+	Silent	SNP	T	T	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr6:132892288T>A	ENST00000275198.1	+	1	828	c.828T>A	c.(826-828)atT>atA	p.I276I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	276					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I276I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CATATAGCATTGATTCATTAA	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											132.0	128.0	129.0					6																	132892288		2203	4300	6503	SO:0001819	synonymous_variant	319100			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.828T>A	6.37:g.132892288T>A			Q5VUQ4	Silent	SNP	ENST00000275198.1	37	CCDS5155.1																																																																																				0.408	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1		NM_175067	
TMTC2	160335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	83526102	83526102	+	Silent	SNP	A	A	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:83526102A>G	ENST00000321196.3	+	12	3152	c.2445A>G	c.(2443-2445)acA>acG	p.T815T	TMTC2_ENST00000549919.1_Silent_p.T809T	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	815					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T815T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGTCATCACACAGTCCAATC	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											101.0	82.0	88.0					12																	83526102		2203	4300	6503	SO:0001819	synonymous_variant	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2445A>G	12.37:g.83526102A>G			B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	CCDS9025.1																																																																																				0.522	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1		NM_152588	
TPTE2	93492	broad.mit.edu;hgsc.bcm.edu	37	13	20025322	20025322	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:20025322C>A	ENST00000400230.2	-	11	829	c.785G>T	c.(784-786)cGa>cTa	p.R262L	TPTE2_ENST00000457266.2_Missense_Mutation_p.R151L|TPTE2_ENST00000382975.4_Missense_Mutation_p.R222L|TPTE2_ENST00000400103.2_Missense_Mutation_p.R151L|TPTE2_ENST00000382977.4_Missense_Mutation_p.R262L|TPTE2_ENST00000382978.1_Missense_Mutation_p.R222L|TPTE2_ENST00000390680.2_Missense_Mutation_p.R185L|TPTE2_ENST00000255310.6_Missense_Mutation_p.R185L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	262	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262L(1)|p.R185L(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTGTAGACTCGATAGTGGTT	0.338																																																	2	Substitution - Missense(2)	kidney(2)											134.0	119.0	124.0					13																	20025322		2203	4299	6502	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.785G>T	13.37:g.20025322C>A	ENSP00000383089:p.Arg262Leu		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	5.202	0.222824	0.09863	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	2.63	-4.25	0.03766	Phosphatase tensin type (1);	0.370090	0.27826	N	0.017691	D	0.89241	0.6659	N	0.05177	-0.1	0.24784	N	0.992793	B;B;B	0.30482	0.173;0.099;0.281	B;B;B	0.26310	0.068;0.024;0.032	D	0.87198	0.2239	9	.	.	.	-0.3035	2.4156	0.04435	0.3903:0.2902:0.0:0.3194	.	151;185;262	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	L	222;151;262;185;185;262;222;151;262;131	ENSP00000372438:R222L;ENSP00000382974:R151L;ENSP00000383089:R262L;ENSP00000255310:R185L;ENSP00000375098:R185L;ENSP00000372437:R262L;ENSP00000372435:R222L;ENSP00000442218:R151L	.	R	-	2	0	TPTE2	18923322	1.000000	0.71417	0.060000	0.19600	0.235000	0.25334	0.762000	0.26503	-0.856000	0.04120	0.194000	0.17425	CGA		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254	
TSPYL6	388951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54482422	54482422	+	Missense_Mutation	SNP	C	C	A	rs200743394		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr2:54482422C>A	ENST00000317802.7	-	1	987	c.867G>T	c.(865-867)agG>agT	p.R289S	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	289					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R289S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGCAGCCTGTCCTAGGGTGTC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											105.0	101.0	102.0					2																	54482422		2109	4266	6375	SO:0001583	missense	388951			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.867G>T	2.37:g.54482422C>A	ENSP00000417919:p.Arg289Ser		Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354265	0.41700	.	.	ENSG00000178021	ENST00000317802	T	0.24908	1.83	1.67	0.737	0.18314	.	.	.	.	.	T	0.38427	0.1040	L	0.54863	1.705	0.28391	N	0.919099	D	0.55800	0.973	P	0.62885	0.908	T	0.19095	-1.0316	9	0.54805	T	0.06	.	7.7878	0.29101	0.0:0.7374:0.2626:0.0	.	289	Q8N831	TSYL6_HUMAN	S	289	ENSP00000417919:R289S	ENSP00000417919:R289S	R	-	3	2	TSPYL6	54335926	0.201000	0.23410	0.142000	0.22268	0.284000	0.27059	0.167000	0.16602	0.250000	0.21479	0.467000	0.42956	AGG		0.468	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3		XM_371494	
TTBK1	84630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43230690	43230690	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr6:43230690G>T	ENST00000259750.4	+	13	1671	c.1588G>T	c.(1588-1590)Gtg>Ttg	p.V530L	TTBK1_ENST00000304139.5_Missense_Mutation_p.V479L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	530					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V530L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTTCCGCTCGGTGCCGCTGGC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											77.0	58.0	64.0					6																	43230690		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1588G>T	6.37:g.43230690G>T	ENSP00000259750:p.Val530Leu		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977953	0.92982	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.67865	-0.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.40543	1.245	0.49483	D	0.999794	D;D	0.64830	0.99;0.994	D;D	0.73380	0.98;0.97	T	0.70824	-0.4767	10	0.49607	T	0.09	.	16.0488	0.80740	0.0:0.0:1.0:0.0	.	53;530	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	L	479;530;479	ENSP00000259750:V530L	ENSP00000259750:V530L	V	+	1	0	TTBK1	43338668	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	9.496000	0.97967	2.532000	0.85374	0.484000	0.47621	GTG		0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			
AC015849.16	0	broad.mit.edu	37	17	34234256	34234256	+	lincRNA	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:34234256G>A	ENST00000587132.1	-	0	3771																											TGATTCAGTGGAGTTTGAGCT	0.468																																																	0																																												0																															17.37:g.34234256G>A				RNA	SNP	ENST00000587132.1	37																																																																																					0.468	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	54025233	54025233	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr15:54025233C>T	ENST00000396328.1	-	2	353	c.114G>A	c.(112-114)gaG>gaA	p.E38E	WDR72_ENST00000557913.1_Silent_p.E38E|WDR72_ENST00000360509.5_Silent_p.E38E|WDR72_ENST00000559418.1_Silent_p.E38E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	38								p.E38E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAGCTGACCCTCTTGACTTC	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											128.0	107.0	114.0					15																	54025233		2194	4293	6487	SO:0001819	synonymous_variant	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.114G>A	15.37:g.54025233C>T			Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																				0.488	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758	
ZNF184	7738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27420988	27420988	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr6:27420988G>A	ENST00000211936.6	-	6	634	c.350C>T	c.(349-351)tCt>tTt	p.S117F	ZNF184_ENST00000377419.1_Missense_Mutation_p.S117F	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S117F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTCTTCTTCAGAAATGTCAGG	0.373																																																	2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											67.0	71.0	70.0					6																	27420988		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.350C>T	6.37:g.27420988G>A	ENSP00000211936:p.Ser117Phe		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506904	0.26949	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07908	3.15;3.15	5.33	5.33	0.75918	.	0.594916	0.15330	N	0.268090	T	0.02156	0.0067	L	0.28344	0.845	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38156	-0.9674	10	0.09590	T	0.72	.	14.3911	0.66978	0.0:0.0:1.0:0.0	.	117	Q99676	ZN184_HUMAN	F	117	ENSP00000211936:S117F;ENSP00000366636:S117F	ENSP00000211936:S117F	S	-	2	0	ZNF184	27528967	0.688000	0.27680	0.309000	0.25155	0.930000	0.56654	2.157000	0.42320	2.771000	0.95319	0.561000	0.74099	TCT		0.373	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1		NM_007149	
ZNF430	80264	hgsc.bcm.edu	37	19	21216891	21216891	+	Splice_Site	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr19:21216891G>A	ENST00000261560.5	+	4	404		c.e4-1		ZNF430_ENST00000595401.1_Intron|ZNF430_ENST00000599548.1_Splice_Site	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430						regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTCAATAAAGCAGGTATTGC	0.388																																																	1	Unknown(1)	kidney(1)											81.0	84.0	83.0					19																	21216891		2203	4300	6503	SO:0001630	splice_region_variant	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.224-1G>A	19.37:g.21216891G>A			Q86V70	Splice_Site	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	G	8.437	0.850024	0.17034	.	.	ENSG00000118620	ENST00000261560	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	.	.	.	.	.	.	0.35355	D	0.787668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF430	21008731	0.035000	0.19736	0.416000	0.26546	0.412000	0.31113	-0.165000	0.09968	0.300000	0.22699	0.306000	0.20318	.		0.388	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1		NM_025189	Intron
ZNF692	55657	hgsc.bcm.edu;ucsc.edu	37	1	249150756	249150764	+	Splice_Site	DEL	CCAAATCTG	CCAAATCTG	-			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	CCAAATCTG	CCAAATCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:249150756_249150764delCCAAATCTG	ENST00000306601.4	-	5	642_647	c.476_481delCAGATTTGG	c.(475-483)gcagatttg>gtg	p.159_161ADL>V	ZNF692_ENST00000427146.1_Splice_Site_p.159_161ADL>V|ZNF692_ENST00000366471.3_Splice_Site_p.159_161ADL>V|ZNF692_ENST00000366469.5_Splice_Site_p.159_161ADL>V|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000451251.1_Splice_Site_p.164_166ADL>V|ZNF692_ENST00000468455.1_5'UTR	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TGCTCAGATTCCAAATCTGTGGGACAGGC	0.478																																																	0																																										SO:0001630	splice_region_variant	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.476-1CAGATTTGG>-	1.37:g.249150756_249150764delCCAAATCTG			B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Frame_Shift_Del	DEL	ENST00000306601.4	37	CCDS31127.1																																																																																				0.478	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1		NM_017865	In_Frame_Del
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4017674	4017674	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:4017674G>A	ENST00000381638.2	-	4	909	c.785C>T	c.(784-786)tCg>tTg	p.S262L	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	262	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S262L(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						AATGTCTGCCGAGTTGGAGGA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											181.0	158.0	166.0					17																	4017674		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.785C>T	17.37:g.4017674G>A	ENSP00000371051:p.Ser262Leu		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596579	0.28445	.	.	ENSG00000074755	ENST00000381638	T	0.64618	-0.11	5.12	5.12	0.69794	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.459276	0.25636	N	0.029318	T	0.55337	0.1914	L	0.42245	1.32	0.31751	N	0.634529	B;B	0.33318	0.201;0.408	B;B	0.27608	0.032;0.081	T	0.64309	-0.6438	10	0.46703	T	0.11	-3.3567	18.5639	0.91111	0.0:0.0:1.0:0.0	.	262;262	O43149-3;O43149	.;ZZEF1_HUMAN	L	262	ENSP00000371051:S262L	ENSP00000371051:S262L	S	-	2	0	ZZEF1	3964423	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	6.003000	0.70701	2.359000	0.80004	0.557000	0.71058	TCG		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
