#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ACOX2	8309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	58490979	58490979	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:58490979A>G	ENST00000302819.5	-	15	2309	c.2018T>C	c.(2017-2019)cTt>cCt	p.L673P	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.L659P	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	673					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.L673P(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		ACTTTGTAAAAGTGGTCTTAT	0.363																																																	2	Substitution - Missense(2)	kidney(1)|skin(1)											182.0	185.0	184.0					3																	58490979		2203	4299	6502	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.2018T>C	3.37:g.58490979A>G	ENSP00000307697:p.Leu673Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196525	0.58126	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.48522	0.81;0.81	5.72	5.72	0.89469	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.275088	0.25099	N	0.033159	T	0.73187	0.3555	M	0.88105	2.93	0.43714	D	0.996189	D	0.89917	1.0	D	0.76071	0.987	T	0.78807	-0.2059	10	0.87932	D	0	-10.7686	14.2685	0.66138	1.0:0.0:0.0:0.0	.	673	Q99424	ACOX2_HUMAN	P	659;673	ENSP00000418562:L659P;ENSP00000307697:L673P	ENSP00000307697:L673P	L	-	2	0	ACOX2	58466019	0.972000	0.33761	0.082000	0.20525	0.857000	0.48899	3.803000	0.55560	2.190000	0.69967	0.472000	0.43445	CTT		0.363	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			
ADCY8	114	broad.mit.edu;hgsc.bcm.edu	37	8	131880119	131880119	+	Missense_Mutation	SNP	G	G	T	rs371333986		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:131880119G>T	ENST00000286355.5	-	9	4275	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	728					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A728E(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTTTGTATTGCCGTGATAAA	0.358										HNSCC(32;0.087)																																							1	Substitution - Missense(1)	kidney(1)											96.0	87.0	90.0					8																	131880119		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2183C>A	8.37:g.131880119G>T	ENSP00000286355:p.Ala728Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974339	0.74246	.	.	ENSG00000155897	ENST00000286355	T	0.38077	1.16	5.9	5.9	0.94986	.	0.160384	0.56097	D	0.000029	T	0.31040	0.0784	L	0.39898	1.24	0.80722	D	1	P	0.44195	0.828	B	0.36092	0.217	T	0.04855	-1.0922	10	0.40728	T	0.16	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	728	P40145	ADCY8_HUMAN	E	728	ENSP00000286355:A728E	ENSP00000286355:A728E	A	-	2	0	ADCY8	131949301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.006000	0.76329	2.806000	0.96561	0.655000	0.94253	GCA		0.358	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			
AGTPBP1	23287	broad.mit.edu;hgsc.bcm.edu	37	9	88193989	88193989	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:88193989T>C	ENST00000357081.3	-	24	3332	c.3188A>G	c.(3187-3189)cAt>cGt	p.H1063R	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.H1023R|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.H1075R			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1063					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H1023R(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGGGGCGATATGGCTCAGTAT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											92.0	85.0	88.0					9																	88193989		2203	4300	6503	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3188A>G	9.37:g.88193989T>C	ENSP00000349592:p.His1063Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	T	13.51	2.259201	0.39995	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.09911	2.93;2.93;2.93	5.52	4.39	0.52855	Peptidase M14, carboxypeptidase A (1);	0.211812	0.50627	D	0.000117	T	0.10594	0.0259	L	0.41492	1.28	0.80722	D	1	B;B;B	0.20550	0.01;0.046;0.01	B;B;B	0.23716	0.017;0.048;0.037	T	0.07888	-1.0749	10	0.40728	T	0.16	-15.4196	11.2195	0.48846	0.0:0.0714:0.0:0.9286	.	1075;1063;1023	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	R	1063;1023;1075	ENSP00000349592:H1063R;ENSP00000365251:H1023R;ENSP00000365277:H1075R	ENSP00000349592:H1063R	H	-	2	0	AGTPBP1	87383809	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.264000	0.72527	1.064000	0.40671	0.528000	0.53228	CAT		0.333	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1		NM_015239	
AHSA1	10598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77929008	77929008	+	Silent	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr14:77929008T>C	ENST00000216479.3	+	4	538	c.378T>C	c.(376-378)gaT>gaC	p.D126D	AHSA1_ENST00000535854.2_Silent_p.D126D|AHSA1_ENST00000555457.1_Intron	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	126					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)	p.D126D(1)		endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTGCCAAAGATGAGCCTGACA	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											124.0	115.0	118.0					14																	77929008		2203	4300	6503	SO:0001819	synonymous_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.378T>C	14.37:g.77929008T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9L2|B4DUR9|Q96IL6|Q9P060	Silent	SNP	ENST00000216479.3	37	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	T	9.682	1.149637	0.21288	.	.	ENSG00000100591	ENST00000553374;ENST00000555729	.	.	.	5.61	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.9135	8.9432	0.35742	0.0:0.1459:0.0:0.8541	.	.	.	.	R	72;45	.	.	X	+	1	0	AHSA1	76998761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.161000	0.31773	0.914000	0.36822	0.455000	0.32223	TGA		0.458	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1		NM_012111	
ANKRD30A	91074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	37508065	37508065	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr10:37508065A>T	ENST00000602533.1	+	34	3356	c.3257A>T	c.(3256-3258)aAg>aTg	p.K1086M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1086M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K1205M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1142					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K1086M(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTAAAAGAAAAGAATGCTGAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											114.0	114.0	114.0					10																	37508065		1810	4065	5875	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3257A>T	10.37:g.37508065A>T	ENSP00000473551:p.Lys1086Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	a	10.52	1.373548	0.24857	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06142	3.34;3.34	2.64	2.64	0.31445	.	.	.	.	.	T	0.19765	0.0475	M	0.65677	2.01	0.27780	N	0.943206	D	0.71674	0.998	D	0.79784	0.993	T	0.02093	-1.1215	9	0.87932	D	0	.	8.514	0.33235	1.0:0.0:0.0:0.0	.	1142	Q9BXX3	AN30A_HUMAN	M	1086;1205	ENSP00000354432:K1086M;ENSP00000363792:K1205M	ENSP00000354432:K1086M	K	+	2	0	ANKRD30A	37548071	1.000000	0.71417	0.591000	0.28745	0.073000	0.16967	3.891000	0.56227	1.077000	0.40990	0.234000	0.17832	AAG		0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73020375	73020376	+	In_Frame_Ins	INS	-	-	CTC	rs113363731|rs79815384|rs376101926|rs139105330	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr11:73020375_73020376insCTC	ENST00000263674.3	+	1	1042_1043	c.692_693insCTC	c.(691-696)tgctcc>tgCTCctcc	p.235_236insS	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	235	Poly-Ser.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGGGCCTCCTGCTCCTCCTCCT	0.693														1497	0.298922	0.7489	0.1671	5008	,	,		13735	0.0466		0.2068	False		,,,				2504	0.1391																0									,	61,2354,1453		19,0,23,836,682,374					,	3.1	1.0		dbSNP_119	18	29,1495,5912		6,0,17,234,1027,2434	no	codingComplex,codingComplex	ARHGEF17,LOC100287837	XM_002343116.2,NM_014786.3	,	25,0,40,1070,1709,2808	A1A1,A1A2,A1R,A2A2,A2R,RR		20.4949,39.1417,34.8461	,	,		90,3849,7365				SO:0001652	inframe_insertion	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.702_704dupCTC	11.37:g.73020382_73020384dupCTC	ENSP00000263674:p.Ser235_Ser235dup	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	In_Frame_Ins	INS	ENST00000263674.3	37	CCDS8221.1																																																																																				0.693	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786	
CASP8AP2	9994	broad.mit.edu	37	6	90573113	90573113	+	RNA	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr6:90573113T>A	ENST00000551025.1	+	0	3122									caspase 8 associated protein 2									p.L562*(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATGAAAAAATTGAACTTAACT	0.358																																					Colon(187;1656 2025 17045 31481 39901)												1	Substitution - Nonsense(1)	kidney(1)											28.0	29.0	29.0					6																	90573113		1815	4075	5890			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573113T>A		Somatic		WXS	Illumina GAIIx	Phase_I		Nonsense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667	
CDKN2A	1029	broad.mit.edu	37	9	21974753	21974753	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:21974753A>C	ENST00000304494.5	-	1	344	c.74T>G	c.(73-75)gTa>gGa	p.V25G	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	25					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTCCTCTACCCGACCCCG	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1340	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											19.0	24.0	22.0					9																	21974753		1918	3904	5822	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.74T>G	9.37:g.21974753A>C	ENSP00000307101:p.Val25Gly	Somatic		WXS	Illumina GAIIx	Phase_I	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972849	0.74246	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.91686	-2.89;-2.89	4.89	-9.23	0.00672	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.88284	0.6395	M	0.79258	2.445	0.09310	N	0.999991	P;P	0.43938	0.616;0.822	B;B	0.38225	0.215;0.268	T	0.81895	-0.0723	9	0.54805	T	0.06	.	9.0958	0.36638	0.6788:0.0:0.1437:0.1776	.	25;25	P42771;G3XAG3	CD2A1_HUMAN;.	G	25	ENSP00000307101:V25G;ENSP00000394932:V25G	ENSP00000307101:V25G	V	-	2	0	CDKN2A	21964753	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	-2.700000	0.00824	-2.114000	0.00832	-0.899000	0.02877	GTA		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077	
CLCA4	22802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87025997	87025997	+	Missense_Mutation	SNP	C	C	T	rs558449055	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:87025997C>T	ENST00000370563.3	+	3	446	c.404C>T	c.(403-405)cCt>cTt	p.P135L	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	135	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.P135L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CACTTCACCCCTGACCTTCTA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											128.0	110.0	116.0					1																	87025997		1862	4099	5961	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.404C>T	1.37:g.87025997C>T	ENSP00000359594:p.Pro135Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681054	0.88542	.	.	ENSG00000016602	ENST00000370563	T	0.26518	1.73	5.75	5.75	0.90469	Chloride channel calcium-activated (1);	0.060495	0.64402	D	0.000003	T	0.46502	0.1396	M	0.87381	2.88	0.80722	D	1	P	0.47409	0.895	P	0.55011	0.766	T	0.52388	-0.8582	10	0.72032	D	0.01	-21.0511	19.5458	0.95297	0.0:1.0:0.0:0.0	.	135	Q14CN2	CLCA4_HUMAN	L	135	ENSP00000359594:P135L	ENSP00000359594:P135L	P	+	2	0	CLCA4	86798585	0.998000	0.40836	0.996000	0.52242	0.848000	0.48234	5.835000	0.69368	2.705000	0.92388	0.655000	0.94253	CCT		0.383	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1		NM_012128	
CLCN2	1181	hgsc.bcm.edu	37	3	184071131	184071132	+	In_Frame_Ins	INS	-	-	CGG	rs545787624|rs375401465	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:184071131_184071132insCGG	ENST00000265593.4	-	17	2105_2106	c.1934_1935insCCG	c.(1933-1935)cgg>cgCCGg	p.645_645R>RR	CLCN2_ENST00000344937.7_In_Frame_Ins_p.628_628R>RR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_In_Frame_Ins_p.601_601R>RR|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_In_Frame_Ins_p.645_645R>RR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	645					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.A643>?(2)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGTGCTGCCGCCGGCGGGCTGG	0.629														40	0.00798722	0.0	0.0216	5008	,	,		17891	0.0		0.0229	False		,,,				2504	0.002																2	Complex(2)	central_nervous_system(2)							,,,	19,4243		0,19,2112					,,,	1.4	1.0			42	183,8071		0,183,3944	no	coding,coding,coding,coding	CLCN2	NM_004366.4,NM_001171089.1,NM_001171088.1,NM_001171087.1	,,,	0,202,6056	A1A1,A1R,RR		2.2171,0.4458,1.6139	,,,	,,,		202,12314				SO:0001652	inframe_insertion	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1932_1934dupCCG	3.37:g.184071135_184071137dupCGG	ENSP00000265593:p.Arg646dup	Somatic		WXS	Illumina HiSeq	Phase_I	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	In_Frame_Ins	INS	ENST00000265593.4	37	CCDS3263.1																																																																																				0.629	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			
CPT1A	1374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68575043	68575043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr11:68575043C>T	ENST00000265641.5	-	4	499	c.345G>A	c.(343-345)tgG>tgA	p.W115*	CPT1A_ENST00000376618.2_Nonsense_Mutation_p.W115*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.W115*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.W115*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	115					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.W115*(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGAGGGCCACCCACAGGCCGG	0.602																																																	1	Substitution - Nonsense(1)	kidney(1)											178.0	130.0	146.0					11																	68575043		2200	4294	6494	SO:0001587	stop_gained	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.345G>A	11.37:g.68575043C>T	ENSP00000265641:p.Trp115*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388405	0.82902	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000265641:W115X	W	-	3	0	CPT1A	68331619	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.575000	0.82447	2.873000	0.98535	0.561000	0.74099	TGG		0.602	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2		NM_001876	
CRAT	1384	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131864768	131864768	+	Nonsense_Mutation	SNP	G	G	A	rs567401147		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:131864768G>A	ENST00000318080.2	-	5	835	c.541C>T	c.(541-543)Cga>Tga	p.R181*	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	181					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.R181*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCCGGCACTCGGCAGGAGGAC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Nonsense(1)	kidney(1)											235.0	221.0	225.0					9																	131864768		2203	4300	6503	SO:0001587	stop_gained	1384			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.541C>T	9.37:g.131864768G>A	ENSP00000315013:p.Arg181*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T952|Q9BW16	Nonsense_Mutation	SNP	ENST00000318080.2	37	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261523	0.95368	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	.	.	.	5.33	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.5668	14.244	0.65975	0.0:0.0:0.8498:0.1502	.	.	.	.	X	181	.	ENSP00000315013:R181X	R	-	1	2	CRAT	130904589	1.000000	0.71417	0.974000	0.42286	0.345000	0.29048	9.770000	0.98971	1.203000	0.43233	0.556000	0.70494	CGA		0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			
CUX1	1523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101925178	101925178	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:101925178T>G	ENST00000437600.4	+	21	2214	c.1862T>G	c.(1861-1863)tTc>tGc	p.F621C	CUX1_ENST00000292538.4_Missense_Mutation_p.F623C|CUX1_ENST00000393824.3_Missense_Mutation_p.F584C|CUX1_ENST00000547394.2_Missense_Mutation_p.F607C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.F577C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.F623C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCGGCTTCTTCTACACACTG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											103.0	75.0	85.0					7																	101925178		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1862T>G	7.37:g.101925178T>G	ENSP00000414091:p.Phe621Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240700	0.79912	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	3.68	3.68	0.42216	CASP, C-terminal (1);	.	.	.	.	T	0.49898	0.1584	M	0.66439	2.03	0.36163	D	0.848221	D;D;D;D;D	0.71674	0.97;0.986;0.996;0.998;0.998	P;P;P;D;D	0.64877	0.739;0.823;0.889;0.912;0.93	T	0.63216	-0.6687	9	0.72032	D	0.01	.	12.6817	0.56926	0.0:0.0:0.0:1.0	.	584;577;607;621;623	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	C	623;607;577;621	ENSP00000292538:F623C;ENSP00000449371:F607C;ENSP00000409745:F577C;ENSP00000414091:F621C	ENSP00000292538:F623C	F	+	2	0	CUX1	101711898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.236000	0.78154	1.472000	0.48140	0.454000	0.30748	TTC		0.647	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3		NM_001913	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56501389	56501389	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr6:56501389T>A	ENST00000361203.3	-	19	2400	c.2393A>T	c.(2392-2394)gAg>gTg	p.E798V	DST_ENST00000370788.2_Missense_Mutation_p.E798V|DST_ENST00000370769.4_Missense_Mutation_p.E798V|DST_ENST00000370754.5_Missense_Mutation_p.E976V|DST_ENST00000518935.1_Missense_Mutation_p.E472V|DST_ENST00000446842.2_Missense_Mutation_p.E472V|DST_ENST00000312431.6_Missense_Mutation_p.E798V|DST_ENST00000244364.6_Missense_Mutation_p.E472V|DST_ENST00000421834.2_Missense_Mutation_p.E798V|DST_ENST00000370765.6_Missense_Mutation_p.E472V			Q03001	DYST_HUMAN	dystonin	798					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E472V(3)|p.E798V(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTGCTGCTCCACACACTG	0.448																																																	4	Substitution - Missense(4)	kidney(4)											202.0	165.0	178.0					6																	56501389		2203	4300	6503	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2393A>T	6.37:g.56501389T>A	ENSP00000354508:p.Glu798Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	29.0	4.969581	0.92855	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.25	5.25	0.73442	.	0.000000	0.49305	D	0.000156	D	0.97854	0.9295	M	0.89601	3.045	0.34762	D	0.732858	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.987	D;D;D;D;D;D;D;P	0.91635	0.998;0.983;0.998;0.999;0.999;0.999;0.995;0.907	D	0.98713	1.0705	9	0.66056	D	0.02	.	15.3138	0.74056	0.0:0.0:0.0:1.0	.	798;798;976;472;472;472;798;472	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	V	472;976;798;798;472;798;798;798;472;838;472;472	ENSP00000244364:E472V;ENSP00000359790:E976V;ENSP00000359805:E798V;ENSP00000400883:E798V;ENSP00000393645:E472V;ENSP00000307959:E798V;ENSP00000359824:E798V;ENSP00000354508:E798V;ENSP00000404924:E472V;ENSP00000431030:E838V;ENSP00000359801:E472V;ENSP00000431003:E472V	ENSP00000244364:E472V	E	-	2	0	DST	56609348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.860000	0.86993	2.201000	0.70794	0.472000	0.43445	GAG		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21268372	21268372	+	Silent	SNP	C	C	T	rs150884106		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:21268372C>T	ENST00000264211.8	-	8	1301	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Silent_p.T369T|EIF4G3_ENST00000356916.3_Silent_p.T380T|EIF4G3_ENST00000602326.1_Silent_p.T375T|EIF4G3_ENST00000374937.3_Silent_p.T375T|EIF4G3_ENST00000400422.1_Silent_p.T369T|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000544689.1_5'Flank	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	369					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T375T(1)|p.T369T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAATGCTCTCCGTGGCTGATA	0.383																																																	2	Substitution - coding silent(2)	kidney(2)											115.0	116.0	116.0					1																	21268372		2203	4300	6503	SO:0001819	synonymous_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1107G>A	1.37:g.21268372C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.383	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760	
ESRRA	2101	broad.mit.edu;hgsc.bcm.edu	37	11	64082235	64082235	+	Silent	SNP	G	G	A	rs372946185		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr11:64082235G>A	ENST00000405666.1	+	5	828	c.594G>A	c.(592-594)gtG>gtA	p.V198V	ESRRA_ENST00000406310.1_Silent_p.V197V|ESRRA_ENST00000000442.6_Silent_p.V198V	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	198					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V198V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATGCACTGGTGTCTCATCTGC	0.587																																																	1	Substitution - coding silent(1)	kidney(1)						G		1,4173		0,1,2086	69.0	71.0	71.0		594	1.0	1.0	11		71	0,8460		0,0,4230	no	coding-synonymous	ESRRA	NM_004451.3		0,1,6316	AA,AG,GG		0.0,0.024,0.0079		198/424	64082235	1,12633	2087	4230	6317	SO:0001819	synonymous_variant	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.594G>A	11.37:g.64082235G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14514	Silent	SNP	ENST00000405666.1	37	CCDS41667.1																																																																																				0.587	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1		NM_004451	
EXTL1	2134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26355761	26355761	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:26355761T>A	ENST00000374280.3	+	2	1724	c.857T>A	c.(856-858)tTc>tAc	p.F286Y	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	286					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.F286Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCGCGCTTCCTCCAAGCC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											92.0	86.0	88.0					1																	26355761		2203	4300	6503	SO:0001583	missense	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.857T>A	1.37:g.26355761T>A	ENSP00000363398:p.Phe286Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	CCDS271.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284537	0.80803	.	.	ENSG00000158008	ENST00000374280	D	0.97811	-4.55	3.91	3.91	0.45181	.	0.067410	0.64402	D	0.000013	D	0.98425	0.9476	M	0.86268	2.805	0.54753	D	0.99998	D	0.76494	0.999	D	0.77004	0.989	D	0.98826	1.0749	10	0.87932	D	0	-20.1562	9.3164	0.37937	0.0:0.0:0.0:1.0	.	286	Q92935	EXTL1_HUMAN	Y	286	ENSP00000363398:F286Y	ENSP00000363398:F286Y	F	+	2	0	EXTL1	26228348	1.000000	0.71417	0.996000	0.52242	0.773000	0.43773	5.471000	0.66762	1.783000	0.52377	0.459000	0.35465	TTC		0.622	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1		NM_004455	
FARP1	10160	broad.mit.edu	37	13	99083408	99083408	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr13:99083408G>T	ENST00000319562.6	+	18	2282	c.2017G>T	c.(2017-2019)Gtg>Ttg	p.V673L	FARP1_ENST00000376586.2_Missense_Mutation_p.V673L|FARP1_ENST00000595437.1_Missense_Mutation_p.V673L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	673	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V673L(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCTGCAGAAGGTGTGTTACCT	0.602																																																	2	Substitution - Missense(2)	kidney(2)											43.0	43.0	43.0					13																	99083408		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2017G>T	13.37:g.99083408G>T	ENSP00000322926:p.Val673Leu	Somatic		WXS	Illumina GAIIx	Phase_I	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194221	0.78902	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.62639	0.01;0.01	5.72	5.72	0.89469	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.74258	2.255	0.80722	D	1	B;P	0.39903	0.02;0.694	B;P	0.46452	0.076;0.517	T	0.75291	-0.3369	10	0.72032	D	0.01	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	673;673	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	673	ENSP00000365771:V673L;ENSP00000322926:V673L	ENSP00000322926:V673L	V	+	1	0	FARP1	97881409	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	9.334000	0.96470	2.693000	0.91896	0.650000	0.86243	GTG		0.602	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766	
FOXJ3	22887	broad.mit.edu;hgsc.bcm.edu	37	1	42730816	42730816	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:42730816T>A	ENST00000372572.1	-	6	725	c.414A>T	c.(412-414)aaA>aaT	p.K138N	FOXJ3_ENST00000361776.1_Missense_Mutation_p.K138N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.K138N|FOXJ3_ENST00000372573.1_Missense_Mutation_p.K138N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.K138N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	138					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K138N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCGAGGCACTTTAAGGAAAC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											143.0	147.0	146.0					1																	42730816		2203	4300	6503	SO:0001583	missense	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.414A>T	1.37:g.42730816T>A	ENSP00000361653:p.Lys138Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	T	34	5.379243	0.95945	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.173937	0.46758	D	0.000272	D	0.98526	0.9508	M	0.91090	3.175	0.80722	D	1	D;D	0.64830	0.994;0.957	D;P	0.64321	0.924;0.651	D	0.99486	1.0949	10	0.87932	D	0	.	13.8247	0.63343	0.0:0.0:0.0:1.0	.	138;138	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	N	138;138;138;138;138;138;95	ENSP00000361654:K138N;ENSP00000361653:K138N;ENSP00000354620:K138N;ENSP00000354449:K138N;ENSP00000439044:K138N;ENSP00000393408:K138N;ENSP00000403060:K95N	ENSP00000354620:K138N	K	-	3	2	FOXJ3	42503403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.638000	0.61353	2.143000	0.66587	0.460000	0.39030	AAA		0.333	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1		NM_014947	
FTMT	94033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	121187839	121187839	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:121187839C>T	ENST00000321339.1	+	1	190	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	61					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.P61S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCCTACCGGGCCCGCCGCCGG	0.741																																																	1	Substitution - Missense(1)	kidney(1)											13.0	15.0	14.0					5																	121187839		2196	4294	6490	SO:0001583	missense	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.181C>T	5.37:g.121187839C>T	ENSP00000313691:p.Pro61Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	7.745	0.702046	0.15172	.	.	ENSG00000181867	ENST00000321339	T	0.62639	0.01	3.2	-2.12	0.07165	.	.	.	.	.	T	0.38374	0.1038	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14227	-1.0480	9	0.28530	T	0.3	.	3.7201	0.08453	0.2493:0.5035:0.1505:0.0968	.	61	Q8N4E7	FTMT_HUMAN	S	61	ENSP00000313691:P61S	ENSP00000313691:P61S	P	+	1	0	FTMT	121215738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.261000	0.08694	-0.553000	0.06158	-0.825000	0.03093	CCC		0.741	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1		NM_177478	
GAL3ST1	9514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30951966	30951966	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr22:30951966C>A	ENST00000402321.1	-	3	563	c.246G>T	c.(244-246)aaG>aaT	p.K82N	GAL3ST1_ENST00000401975.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.K82N|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.K82N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	82					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.K82N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCTTGTGCGTCTTCAAGAACA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											74.0	67.0	69.0					22																	30951966		2203	4300	6503	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.246G>T	22.37:g.30951966C>A	ENSP00000385735:p.Lys82Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386266	0.42308	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.73209	-0.4055	10	0.87932	D	0	-16.1457	18.191	0.89807	0.0:1.0:0.0:0.0	.	82	Q99999	G3ST1_HUMAN	N	82;82;82;82;82;82;82;82;83;82;82;82;83;82;82;83;82;82;82;82;82	ENSP00000385825:K82N;ENSP00000385735:K82N;ENSP00000384122:K82N;ENSP00000384388:K82N;ENSP00000343234:K82N;ENSP00000385207:K82N;ENSP00000402587:K82N;ENSP00000390545:K82N;ENSP00000395080:K83N;ENSP00000405017:K82N;ENSP00000401426:K82N;ENSP00000391485:K82N;ENSP00000397092:K83N;ENSP00000391996:K82N;ENSP00000405381:K82N;ENSP00000401074:K83N;ENSP00000389876:K82N;ENSP00000398380:K82N;ENSP00000414542:K82N;ENSP00000412995:K82N;ENSP00000394912:K82N	ENSP00000343234:K82N	K	-	3	2	GAL3ST1	29281966	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	1.966000	0.40481	2.415000	0.81967	0.591000	0.81541	AAG		0.642	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1		NM_004861	
GALNT11	63917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151807716	151807716	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:151807716G>C	ENST00000434507.1	+	9	1503	c.1066G>C	c.(1066-1068)Gaa>Caa	p.E356Q	GALNT11_ENST00000452146.2_Missense_Mutation_p.E275Q|GALNT11_ENST00000430044.2_Missense_Mutation_p.E356Q|GALNT11_ENST00000320311.2_Missense_Mutation_p.E356Q			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	356	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E356Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGAAAATTTGGAAATATCATT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											155.0	161.0	159.0					7																	151807716		2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1066G>C	7.37:g.151807716G>C	ENSP00000416787:p.Glu356Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755483	0.89843	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.99226	1.0880	10	0.87932	D	0	.	18.2445	0.89981	0.0:0.0:1.0:0.0	.	275;356;356	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	Q	356;275;356;356;356	ENSP00000395122:E356Q;ENSP00000393399:E275Q;ENSP00000416787:E356Q;ENSP00000315835:E356Q	ENSP00000315835:E356Q	E	+	1	0	GALNT11	151438649	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	9.787000	0.99055	2.293000	0.77203	0.561000	0.74099	GAA		0.353	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1		NM_022087	
HAUS7	55559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	152719888	152719888	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chrX:152719888T>C	ENST00000370211.4	-	9	1082	c.1039A>G	c.(1039-1041)Atc>Gtc	p.I347V	TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.I406V|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_3'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	347					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)	p.I406V(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CCCCAGCAGATCTGCTCGCCT	0.642																																																	1	Substitution - Missense(1)	kidney(1)											54.0	40.0	45.0					X																	152719888		2203	4300	6503	SO:0001583	missense	55559			AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.1039A>G	X.37:g.152719888T>C	ENSP00000359230:p.Ile347Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656161	0.29425	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212	T;T;T	0.25912	1.77;1.77;1.77	4.88	-2.69	0.06022	.	1.512690	0.03713	N	0.250626	T	0.14270	0.0345	L	0.29908	0.895	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.13407	0.009;0.009	T	0.21861	-1.0233	10	0.02654	T	1	-0.88	5.3912	0.16245	0.0:0.2026:0.4905:0.3069	.	347;406	Q99871;Q99871-2	HAUS7_HUMAN;.	V	337;347;406	ENSP00000359230:I337V;ENSP00000359239:I347V;ENSP00000359231:I406V	ENSP00000359230:I337V	I	-	1	0	HAUS7	152373082	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	-0.697000	0.05098	-0.317000	0.08677	0.430000	0.28490	ATC		0.642	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2		NM_017518	
HLA-A	3105	hgsc.bcm.edu	37	6	29912029	29912029	+	Frame_Shift_Del	DEL	G	G	-	rs45576436|rs558831267|rs45469394	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr6:29912029delG	ENST00000396634.1	+	6	1091	c.750delG	c.(748-750)cagfs	p.Q250fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.Q250fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.Q250fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.Q250fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	250	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACCAGACCCAGGACACGGAGC	0.642									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			gg|GG|G|deletion	1856	0.370607	0.4153	0.402	5008	,	,		18384	0.2857		0.3757	False		,,,				2504	0.3701																0										1525,2635		46,1433,601	23.0	28.0	26.0			2.5	0.9	6	dbSNP_130	42	2936,5032		106,2724,1154	no	frameshift	HLA-A	NM_002116.7		152,4157,1755	A1A1,A1R,RR		36.8474,36.6587,36.7827			29912029	4461,7667	1507	2694	4201	SO:0001589	frameshift_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.750delG	6.37:g.29912029delG	ENSP00000379873:p.Gln250fs	Somatic		WXS	Illumina HiSeq	Phase_I	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	CCDS34373.1																																																																																				0.642	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116	
HMGCS1	3157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43295906	43295906	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:43295906T>A	ENST00000325110.6	-	6	1059	c.853A>T	c.(853-855)Aat>Tat	p.N285Y	HMGCS1_ENST00000433297.2_Missense_Mutation_p.N285Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	285					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.N285Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TTCTGGTCATTAAGGAAGTCA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											88.0	93.0	91.0					5																	43295906		2203	4300	6503	SO:0001583	missense	3157				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.853A>T	5.37:g.43295906T>A	ENSP00000322706:p.Asn285Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.206079	0.39003	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.77098	-1.07;-1.07	5.66	5.66	0.87406	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.156973	0.64402	D	0.000001	T	0.70395	0.3219	L	0.34521	1.04	0.41206	D	0.986409	B	0.09022	0.002	B	0.12837	0.008	T	0.66799	-0.5832	10	0.52906	T	0.07	-17.7617	15.8804	0.79201	0.0:0.0:0.0:1.0	.	285	Q01581	HMCS1_HUMAN	Y	285;285;274	ENSP00000322706:N285Y;ENSP00000399402:N285Y	ENSP00000322706:N285Y	N	-	1	0	HMGCS1	43331663	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.642000	0.54367	2.160000	0.67779	0.477000	0.44152	AAT		0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			
IFNLR1	163702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24484205	24484205	+	Silent	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:24484205T>C	ENST00000327535.1	-	7	990	c.978A>G	c.(976-978)gaA>gaG	p.E326E	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Silent_p.E297E	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	326					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)		p.E326E(1)									CCTCCTCCTCTTCGTCCTCTG	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											181.0	175.0	177.0					1																	24484205		2203	4300	6503	SO:0001819	synonymous_variant	0			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.978A>G	1.37:g.24484205T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	CCDS248.1																																																																																				0.592	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1		NM_170743	
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62341007	62341007	+	Silent	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:62341007T>A	ENST00000371158.2	+	21	3042	c.2928T>A	c.(2926-2928)ctT>ctA	p.L976L	INADL_ENST00000316485.6_Silent_p.L976L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	976					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.L976L(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						TGGAAAATCTTAATTCATTAG	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	100.0	100.0					1																	62341007		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.2928T>A	1.37:g.62341007T>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605	
KCNJ15	3772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	39671492	39671492	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr21:39671492T>G	ENST00000328656.4	+	4	612	c.309T>G	c.(307-309)aaT>aaG	p.N103K	KCNJ15_ENST00000398932.1_Missense_Mutation_p.N103K|KCNJ15_ENST00000398938.2_Missense_Mutation_p.N103K|KCNJ15_ENST00000398934.1_Missense_Mutation_p.N103K|KCNJ15_ENST00000398930.1_Missense_Mutation_p.N103K	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	103					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.N103K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CCATTTCAAATCATACCCCCT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											110.0	111.0	111.0					21																	39671492		2203	4300	6503	SO:0001583	missense	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.309T>G	21.37:g.39671492T>G	ENSP00000331698:p.Asn103Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	T	8.499	0.863909	0.17250	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.43	-6.08	0.02151	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.158377	0.53938	D	0.000057	D	0.88858	0.6551	L	0.58669	1.825	0.41753	D	0.989678	B	0.18610	0.029	B	0.25291	0.059	T	0.67806	-0.5575	9	.	.	.	.	13.5799	0.61896	0.0:0.65:0.1096:0.2404	.	103	Q99712	IRK15_HUMAN	K	103	ENSP00000331698:N103K;ENSP00000381902:N103K;ENSP00000381911:N103K;ENSP00000381905:N103K;ENSP00000414487:N103K;ENSP00000381904:N103K;ENSP00000381907:N103K;ENSP00000381901:N103K;ENSP00000400849:N103K	.	N	+	3	2	KCNJ15	38593362	0.125000	0.22332	0.395000	0.26283	0.420000	0.31355	-0.318000	0.08050	-1.133000	0.02903	-0.408000	0.06270	AAT		0.493	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2		NM_002243	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141122269	141122269	+	Missense_Mutation	SNP	C	C	T	rs199912333		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr2:141122269C>T	ENST00000389484.3	-	72	12063	c.11092G>A	c.(11092-11094)Gac>Aac	p.D3698N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3698	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3698N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCCACAGTCGTCCTCTCCA	0.408										TSP Lung(27;0.18)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17429	0.001		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	kidney(1)											115.0	114.0	114.0					2																	141122269		2203	4299	6502	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11092G>A	2.37:g.141122269C>T	ENSP00000374135:p.Asp3698Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.476263	0.96291	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99005	-5.32	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	M	0.85710	2.77	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.99360	1.0917	10	0.41790	T	0.15	.	19.9311	0.97118	0.0:1.0:0.0:0.0	.	3698	Q9NZR2	LRP1B_HUMAN	N	3698;3636	ENSP00000374135:D3698N	ENSP00000374135:D3698N	D	-	1	0	LRP1B	140838739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.782000	0.95742	0.655000	0.94253	GAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
MESP1	55897	broad.mit.edu;hgsc.bcm.edu	37	15	90293454	90293454	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr15:90293454A>T	ENST00000300057.4	-	2	806	c.728T>A	c.(727-729)cTt>cAt	p.L243H	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	243					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L243H(1)		NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GTCGCCCGGAAGGAGCTGTAG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											63.0	63.0	63.0					15																	90293454		2200	4299	6499	SO:0001583	missense	55897				CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"""Basic helix-loop-helix proteins"""	29658	protein-coding gene	gene with protein product		608689	"""mesoderm posterior 1 homolog (mouse)"""			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.728T>A	15.37:g.90293454A>T	ENSP00000300057:p.Leu243His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSF1|Q9NSF2	Missense_Mutation	SNP	ENST00000300057.4	37	CCDS10355.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.266023	0.23136	.	.	ENSG00000166823	ENST00000300057	D	0.82081	-1.57	4.18	2.88	0.33553	.	.	.	.	.	T	0.72011	0.3408	L	0.36672	1.1	0.23445	N	0.997668	P	0.46277	0.875	B	0.38327	0.271	T	0.63532	-0.6616	9	0.87932	D	0	-2.9697	6.1013	0.20049	0.8663:0.0:0.1337:0.0	.	243	Q9BRJ9	MESP1_HUMAN	H	243	ENSP00000300057:L243H	ENSP00000300057:L243H	L	-	2	0	MESP1	88094458	0.008000	0.16893	0.745000	0.31077	0.015000	0.08874	0.636000	0.24644	0.537000	0.28751	0.323000	0.21402	CTT		0.662	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1		NM_018670	
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116415115	116415115	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:116415115T>A	ENST00000318493.6	+	15	3450	c.3263T>A	c.(3262-3264)gTg>gAg	p.V1088E	MET_ENST00000539704.1_5'Flank|MET_ENST00000397752.3_Missense_Mutation_p.V1070E			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V1088E(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCATGTAGTGATTGGGCCC	0.433			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											174.0	172.0	172.0					7																	116415115		2077	4220	6297	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3263T>A	7.37:g.116415115T>A	ENSP00000317272:p.Val1088Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885631	0.91814	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73681	-0.77;-0.77	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84469	0.5479	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.994;0.989	D	0.86091	0.1550	10	0.87932	D	0	-15.0307	16.1067	0.81230	0.0:0.0:0.0:1.0	.	1088;1070	P08581-2;P08581	.;MET_HUMAN	E	1070;1088;155	ENSP00000380860:V1070E;ENSP00000317272:V1088E	ENSP00000317272:V1088E	V	+	2	0	MET	116202351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.310000	0.78947	2.255000	0.74692	0.533000	0.62120	GTG		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			
MGAT5B	146664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74936814	74936814	+	Splice_Site	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr17:74936814G>A	ENST00000569840.2	+	15	2306	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	MGAT5B_ENST00000301618.4_Splice_Site_p.V576M|MGAT5B_ENST00000428789.2_Splice_Site_p.V587M	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	578					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.V576M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTTGCCAGGTGTTCTCCCA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											88.0	81.0	84.0					17																	74936814		2203	4300	6503	SO:0001630	splice_region_variant	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1732-1G>A	17.37:g.74936814G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850225	0.51270	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.49432	0.78;0.78	4.09	3.1	0.35709	.	0.068493	0.56097	D	0.000021	T	0.64204	0.2577	M	0.68593	2.085	0.47123	D	0.999325	P;D	0.76494	0.665;0.999	B;D	0.83275	0.444;0.996	T	0.63541	-0.6614	9	.	.	.	-17.3457	12.8325	0.57754	0.0:0.1654:0.8346:0.0	.	587;576	Q3V5L5-2;Q3V5L5-5	.;.	M	576;587	ENSP00000301618:V576M;ENSP00000391227:V587M	.	V	+	1	0	MGAT5B	72448409	1.000000	0.71417	0.997000	0.53966	0.343000	0.28985	5.425000	0.66470	0.705000	0.31890	0.550000	0.68814	GTG		0.557	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2		NM_144677	Missense_Mutation
MSR1	4481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	16032735	16032735	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:16032735C>G	ENST00000262101.5	-	3	299	c.178G>C	c.(178-180)Gtg>Ctg	p.V60L	MSR1_ENST00000445506.2_Missense_Mutation_p.V78L|MSR1_ENST00000381998.4_Missense_Mutation_p.V60L|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.V60L|MSR1_ENST00000350896.3_Missense_Mutation_p.V60L			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	60					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.V60L(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ACTGCAAACACGAGGAGGTAA	0.423																																																	2	Substitution - Missense(2)	kidney(2)											143.0	137.0	139.0					8																	16032735		2203	4300	6503	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.178G>C	8.37:g.16032735C>G	ENSP00000262101:p.Val60Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833716	0.71258	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998;ENST00000518960	D;D;D;D;D;T	0.92595	-2.65;-2.3;-2.31;-2.65;-3.07;1.15	5.34	4.45	0.53987	Macrophage scavenger receptor (1);	0.127702	0.35436	N	0.003219	D	0.94935	0.8362	M	0.73598	2.24	0.33839	D	0.631156	D;D;D;D	0.76494	0.983;0.99;0.999;0.983	P;P;D;P	0.81914	0.46;0.759;0.995;0.46	D	0.96183	0.9132	10	0.72032	D	0.01	.	10.5766	0.45231	0.0:0.9061:0.0:0.0939	.	78;60;60;60	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	L	60;60;78;60;60;60	ENSP00000262100:V60L;ENSP00000262101:V60L;ENSP00000405453:V78L;ENSP00000347430:V60L;ENSP00000371428:V60L;ENSP00000427905:V60L	ENSP00000262101:V60L	V	-	1	0	MSR1	16077106	0.935000	0.31712	0.988000	0.46212	0.981000	0.71138	1.445000	0.35079	2.658000	0.90341	0.650000	0.86243	GTG		0.423	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			
NARS2	79731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78176959	78176959	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr11:78176959A>C	ENST00000281038.5	-	11	1502	c.1127T>G	c.(1126-1128)tTc>tGc	p.F376C	NARS2_ENST00000528850.1_Missense_Mutation_p.F149C	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	376					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.F376C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCTCATGTAGAAAGGCTTGAG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											140.0	131.0	134.0					11																	78176959		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1127T>G	11.37:g.78176959A>C	ENSP00000281038:p.Phe376Cys	Somatic		WXS	Illumina HiSeq	Phase_I	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991338	0.54041	.	.	ENSG00000137513	ENST00000281038;ENST00000528850;ENST00000529880	D;D;D	0.87729	-2.17;-2.17;-2.29	4.59	4.59	0.56863	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.047796	0.85682	D	0.000000	D	0.96106	0.8731	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97388	0.9987	10	0.87932	D	0	-13.6652	13.3723	0.60719	1.0:0.0:0.0:0.0	.	376	Q96I59	SYNM_HUMAN	C	376;149;232	ENSP00000281038:F376C;ENSP00000432635:F149C;ENSP00000432240:F232C	ENSP00000281038:F376C	F	-	2	0	NARS2	77854607	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.273000	0.89887	2.055000	0.61198	0.482000	0.46254	TTC		0.423	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2		NM_024678	
PABPC1	26986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101724674	101724674	+	Silent	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:101724674A>G	ENST00000318607.5	-	7	2016	c.888T>C	c.(886-888)ctT>ctC	p.L296L	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Silent_p.L251L|PABPC1_ENST00000522387.1_Silent_p.L264L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	296	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.L296L(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTCACATAAAGATTAACAC	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	107.0	105.0					8																	101724674		2202	4295	6497	SO:0001819	synonymous_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.888T>C	8.37:g.101724674A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	A	9.112	1.006866	0.19199	.	.	ENSG00000070756	ENST00000519100	.	.	.	5.65	1.7	0.24286	.	.	.	.	.	T	0.43322	0.1242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26087	-1.0113	4	.	.	.	.	1.9957	0.03455	0.5927:0.1232:0.1433:0.1408	.	.	.	.	S	165	.	.	F	-	2	0	PABPC1	101793850	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.708000	0.25719	0.495000	0.27882	0.533000	0.62120	TTT		0.338	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PCDH19	57526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	99662750	99662750	+	Silent	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chrX:99662750G>A	ENST00000373034.4	-	1	2521	c.846C>T	c.(844-846)aaC>aaT	p.N282N	PCDH19_ENST00000420881.2_Silent_p.N282N|PCDH19_ENST00000255531.7_Silent_p.N282N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N282N(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGTGCGGTCGTTGACGTAGC	0.602													G|||	1	0.000264901	0.0	0.0	3775	,	,		14366	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											115.0	120.0	118.0					X																	99662750		2176	4257	6433	SO:0001819	synonymous_variant	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.846C>T	X.37:g.99662750G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																				0.602	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		NM_020766	
PCDHB16	57717	broad.mit.edu	37	5	140568303	140568303	+	IGR	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:140568303G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCACATCGGCAGTGTCAGC	0.657																																																	0													93.0	105.0	101.0					5																	140568303		2203	4296	6499	SO:0001628	intergenic_variant	56127			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568303G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.657	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957	
PCSK2	5126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000377899.1_Silent_p.D325D|PCSK2_ENST00000536609.1_Silent_p.D309D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCTGTACGACGAGAGCTGCT	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	108.0	120.0					20																	17434533		2203	4300	6503	SO:0001819	synonymous_variant	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1032C>T	20.37:g.17434533C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	CCDS13125.1																																																																																				0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2		NM_002594	
PHYHIP	9796	broad.mit.edu;hgsc.bcm.edu	37	8	22084409	22084409	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:22084409A>G	ENST00000321613.3	-	4	751	c.295T>C	c.(295-297)Tac>Cac	p.Y99H	PHYHIP_ENST00000454243.2_Missense_Mutation_p.Y99H	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	99	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.Y99H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GACACCAGGTACTCCCCATCG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											93.0	112.0	106.0					8																	22084409		2177	4250	6427	SO:0001583	missense	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.295T>C	8.37:g.22084409A>G	ENSP00000320017:p.Tyr99His	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657607	0.88154	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.41400	1.0;1.0	5.62	5.62	0.85841	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.47190	1.495	0.49299	D	0.999772	D	0.63880	0.993	P	0.62740	0.906	T	0.54516	-0.8282	10	0.48119	T	0.1	-40.8009	14.8168	0.70041	1.0:0.0:0.0:0.0	.	99	Q92561	PHYIP_HUMAN	H	99;99;51	ENSP00000320017:Y99H;ENSP00000415491:Y99H	ENSP00000320017:Y99H	Y	-	1	0	PHYHIP	22140354	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.297000	0.96120	2.138000	0.66242	0.533000	0.62120	TAC		0.652	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1		NM_014759	
PLA2G2F	64600	broad.mit.edu	37	1	20470069	20470069	+	Silent	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:20470069G>A	ENST00000375102.3	+	3	402	c.300G>A	c.(298-300)aaG>aaA	p.K100K		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	57					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.K100K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCCAGCCCAAGGATGAGGTGG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	62.0	64.0					1																	20470069		2203	4300	6503	SO:0001819	synonymous_variant	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.300G>A	1.37:g.20470069G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q5R385|Q8N217|Q9H506	Silent	SNP	ENST00000375102.3	37	CCDS204.2																																																																																				0.637	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1		NM_022819	
PLTP	5360	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44538612	44538612	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:44538612G>T	ENST00000477313.1	-	3	892	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R12S|PLTP_ENST00000542937.1_Missense_Mutation_p.R120S|PLTP_ENST00000354050.4_Missense_Mutation_p.R100S|PLTP_ENST00000372431.3_Missense_Mutation_p.R100S			P55058	PLTP_HUMAN	phospholipid transfer protein	100					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.R100S(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CTCCGGAAGCGCAGCCCCAAG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											77.0	70.0	72.0					20																	44538612		2203	4300	6503	SO:0001583	missense	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.298C>A	20.37:g.44538612G>T	ENSP00000417138:p.Arg100Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463700	0.26335	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	4.83	3.86	0.44501	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.310618	0.39210	N	0.001429	T	0.04907	0.0132	L	0.42245	1.32	0.30651	N	0.755388	B;B;B;B;B	0.21688	0.059;0.059;0.022;0.059;0.059	B;B;B;B;B	0.25140	0.058;0.058;0.025;0.058;0.058	T	0.20505	-1.0273	10	0.06625	T	0.88	-8.1062	12.4925	0.55907	0.0:0.0:0.6961:0.3039	.	12;100;100;100;120	B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;PLTP_HUMAN;.	S	12;100;100;100;120	ENSP00000361497:R12S;ENSP00000361508:R100S;ENSP00000335290:R100S;ENSP00000417138:R100S;ENSP00000440296:R120S	ENSP00000335290:R100S	R	-	1	0	PLTP	43972019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.888000	0.63164	1.352000	0.45808	0.555000	0.69702	CGC		0.587	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1		NM_006227	
PNCK	139728	broad.mit.edu	37	X	152936765	152936765	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chrX:152936765C>A	ENST00000370150.1	-	7	767	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	PNCK_ENST00000393831.2_Missense_Mutation_p.A220S|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370142.1_Missense_Mutation_p.A220S|PNCK_ENST00000340888.3_Missense_Mutation_p.A197S|PNCK_ENST00000370145.4_Missense_Mutation_p.A214S|PNCK_ENST00000447676.2_Missense_Mutation_p.A280S			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A197S(1)|p.A214S(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGCCCAGGGCCCACACATCT	0.642																																																	2	Substitution - Missense(2)	kidney(2)											55.0	58.0	57.0					X																	152936765		2203	4300	6503	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.589G>T	X.37:g.152936765C>A	ENSP00000359169:p.Ala197Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37		.	.	.	.	.	.	.	.	.	.	N	1.575	-0.533160	0.04082	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	4.12	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000043	T	0.03871	0.0109	N	0.01405	-0.89	0.36082	D	0.842856	P;B;P	0.41393	0.748;0.088;0.648	B;B;B	0.36134	0.218;0.138;0.205	T	0.35325	-0.9793	10	0.02654	T	1	-21.615	14.5401	0.67987	0.0:1.0:0.0:0.0	.	280;214;197	Q6P2M8-5;B4E1A6;Q6P2M8	.;.;KCC1B_HUMAN	S	197;197;220;220;214;280;197;197	ENSP00000340586:A197S;ENSP00000359169:A197S;ENSP00000377417:A220S;ENSP00000359161:A220S;ENSP00000359164:A214S;ENSP00000405950:A280S;ENSP00000415770:A197S;ENSP00000391772:A197S	ENSP00000340586:A197S	A	-	1	0	PNCK	152589959	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	2.421000	0.44688	1.650000	0.50662	0.424000	0.28305	GCC		0.642	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2		NM_198452	
POLL	27343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103345853	103345853	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr10:103345853T>A	ENST00000370162.3	-	3	670	c.176A>T	c.(175-177)gAa>gTa	p.E59V	DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000299206.4_Missense_Mutation_p.E59V|POLL_ENST00000436284.2_5'UTR|DPCD_ENST00000370151.4_5'Flank|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370168.3_5'Flank|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000370172.1_5'UTR|POLL_ENST00000370169.1_Missense_Mutation_p.E59V|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000339310.3_Intron|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	59	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.E59V(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTCAAAGAGTTCTGCCCGGGC	0.552								DNA polymerases (catalytic subunits)																																									1	Substitution - Missense(1)	kidney(1)											42.0	40.0	41.0					10																	103345853		2203	4300	6503	SO:0001583	missense	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.176A>T	10.37:g.103345853T>A	ENSP00000359181:p.Glu59Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920008	0.73098	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;D	0.82893	0.22;0.22;0.22;0.22;0.22;0.22;-1.66	5.59	5.59	0.84812	BRCT (2);	0.110470	0.64402	D	0.000009	D	0.88908	0.6565	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.60789	0.723;0.879	D	0.90055	0.4152	10	0.72032	D	0.01	-19.46	15.7746	0.78204	0.0:0.0:0.0:1.0	.	59;59	Q9UGP5;A8K860	DPOLL_HUMAN;.	V	59;59;59;59;59;59;70;59;59	ENSP00000299206:E59V;ENSP00000359188:E59V;ENSP00000359181:E59V;ENSP00000400676:E59V;ENSP00000411678:E70V;ENSP00000400517:E59V;ENSP00000414293:E59V	ENSP00000299206:E59V	E	-	2	0	POLL	103335843	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.688000	0.68227	2.140000	0.66376	0.459000	0.35465	GAA		0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1		NM_013274	
POM121L12	285877	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	53103958	53103958	+	Silent	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:53103958C>T	ENST00000408890.4	+	1	610	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	198								p.F198F(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTTGTGGTTCGAGGTCTCAG	0.667																																																	2	Substitution - coding silent(2)	prostate(1)|kidney(1)											49.0	58.0	55.0					7																	53103958		1981	4145	6126	SO:0001819	synonymous_variant	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.594C>T	7.37:g.53103958C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																				0.667	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1		NM_182595	
PREX1	57580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47292733	47292733	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:47292733G>T	ENST00000371941.3	-	14	1685	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	PREX1_ENST00000396220.1_Missense_Mutation_p.Q555K	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	555	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q555K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCTCACCTGAGCCAGCAGC	0.512																																																	2	Substitution - Missense(2)	kidney(2)											135.0	120.0	125.0					20																	47292733		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1663C>A	20.37:g.47292733G>T	ENSP00000361009:p.Gln555Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598069	0.87055	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14144	2.53;2.53	5.02	5.02	0.67125	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.52532	U	0.000078	T	0.35740	0.0942	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.09037	-1.0693	10	0.72032	D	0.01	.	17.1246	0.86710	0.0:0.0:1.0:0.0	.	555	Q8TCU6	PREX1_HUMAN	K	555	ENSP00000361009:Q555K;ENSP00000379522:Q555K	ENSP00000361009:Q555K	Q	-	1	0	PREX1	46726140	1.000000	0.71417	0.950000	0.38849	0.775000	0.43874	9.002000	0.93572	2.314000	0.78098	0.551000	0.68910	CAG		0.512	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1		NM_020820	
PRKACG	5568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	71628711	71628711	+	Missense_Mutation	SNP	C	C	T	rs138606760		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:71628711C>T	ENST00000377276.2	-	1	328	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.D100N(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACGGAAAGTCGATCGCCTGC	0.557																																					Esophageal Squamous(110;2236 2623 32146)												1	Substitution - Missense(1)	kidney(1)						C	ASN/ASP	0,4406		0,0,2203	257.0	180.0	206.0		298	-3.2	0.0	9	dbSNP_134	206	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRKACG	NM_002732.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/352	71628711	1,13005	2203	4300	6503	SO:0001583	missense	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.298G>A	9.37:g.71628711C>T	ENSP00000366488:p.Asp100Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.465592	0.01053	0.0	1.16E-4	ENSG00000165059	ENST00000377276	T	0.07444	3.19	1.61	-3.23	0.05109	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.412140	0.06091	N	0.663632	T	0.03434	0.0099	N	0.11427	0.14	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.42865	-0.9426	10	0.02654	T	1	.	6.5417	0.22385	0.0:0.4848:0.0:0.5152	.	100	P22612	KAPCG_HUMAN	N	100	ENSP00000366488:D100N	ENSP00000366488:D100N	D	-	1	0	PRKACG	70818531	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.163000	0.16520	-1.299000	0.02344	-1.264000	0.01445	GAC		0.557	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			
RFC4	5984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186508173	186508173	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:186508173T>C	ENST00000392481.2	-	9	1105	c.824A>G	c.(823-825)gAt>gGt	p.D275G	RFC4_ENST00000296273.2_Missense_Mutation_p.D275G|SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000433496.1_Intron|SNORA4_ENST00000584302.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	275					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D275G(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAATACTCCATCAATTTTCTC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											112.0	112.0	112.0					3																	186508173		2203	4300	6503	SO:0001583	missense	5984				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.824A>G	3.37:g.186508173T>C	ENSP00000376272:p.Asp275Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616790	0.28801	.	.	ENSG00000163918	ENST00000392481;ENST00000296273;ENST00000417876	T;T;T	0.44482	0.92;0.92;0.92	5.32	2.79	0.32731	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.428568	0.30538	N	0.009405	T	0.38321	0.1036	M	0.70787	2.145	0.53005	D	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.30966	-0.9960	10	0.48119	T	0.1	.	6.9715	0.24652	0.0:0.0842:0.1493:0.7664	.	275	P35249	RFC4_HUMAN	G	275;275;50	ENSP00000376272:D275G;ENSP00000296273:D275G;ENSP00000401429:D50G	ENSP00000296273:D275G	D	-	2	0	RFC4	187990867	0.999000	0.42202	0.697000	0.30258	0.437000	0.31866	2.471000	0.45127	0.970000	0.38263	0.459000	0.35465	GAT		0.428	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1		NM_002916	
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																																	0																																												730092					16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1		NR_003370	
SAV1	60485	broad.mit.edu	37	14	51131954	51131954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr14:51131954C>A	ENST00000324679.4	-	2	841	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	160					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E160*(1)		breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TGGTTGTATTCATAATATCTG	0.368																																																	1	Substitution - Nonsense(1)	kidney(1)											29.0	30.0	30.0					14																	51131954		2197	4282	6479	SO:0001587	stop_gained	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.478G>T	14.37:g.51131954C>A	ENSP00000324729:p.Glu160*	Somatic		WXS	Illumina GAIIx	Phase_I	A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Nonsense_Mutation	SNP	ENST00000324679.4	37	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	C	40	8.053461	0.98629	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862;ENST00000553731	.	.	.	5.29	5.29	0.74685	.	0.144333	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-2.3926	17.9319	0.88999	0.0:1.0:0.0:0.0	.	.	.	.	X	92;160;127;44	.	ENSP00000324729:E160X	E	-	1	0	SAV1	50201704	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.441000	0.80485	2.467000	0.83353	0.563000	0.77884	GAA		0.368	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38783881	38783881	+	Silent	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:38783881G>T	ENST00000449082.2	-	13	2006	c.2007C>A	c.(2005-2007)ctC>ctA	p.L669L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	669					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L669L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGTGATGGTGAGCTCTGCAA	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											153.0	125.0	135.0					3																	38783881		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2007C>A	3.37:g.38783881G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514	
SGK2	10110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	42199332	42199332	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:42199332G>C	ENST00000341458.4	+	6	835	c.616G>C	c.(616-618)Gcc>Ccc	p.A206P	SGK2_ENST00000373100.1_Missense_Mutation_p.A146P|SGK2_ENST00000373077.1_Missense_Mutation_p.A145P|SGK2_ENST00000423407.3_Missense_Mutation_p.A146P|SGK2_ENST00000426287.1_Missense_Mutation_p.A172P|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000373092.3_Missense_Mutation_p.A146P	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.A206P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTGGCCAGCGCCATTGGCTA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											53.0	55.0	54.0					20																	42199332		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.616G>C	20.37:g.42199332G>C	ENSP00000340608:p.Ala206Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107666	0.94292	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.12	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097634	0.64402	D	0.000001	T	0.73628	0.3611	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.986	T	0.82372	-0.0490	10	0.87932	D	0	.	16.3487	0.83191	0.0:0.0:1.0:0.0	.	172;206;146	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	P	146;146;145;145;146;206;172	ENSP00000362192:A146P;ENSP00000362184:A146P;ENSP00000362168:A145P;ENSP00000396222:A145P;ENSP00000392795:A146P;ENSP00000340608:A206P;ENSP00000412214:A172P	ENSP00000340608:A206P	A	+	1	0	SGK2	41632746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.429000	0.97481	2.589000	0.87451	0.561000	0.74099	GCC		0.627	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			
SGK3	23678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67748020	67748020	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:67748020T>C	ENST00000396596.1	+	9	762	c.548T>C	c.(547-549)cTg>cCg	p.L183P	SGK3_ENST00000520976.1_Missense_Mutation_p.L183P|SGK3_ENST00000521198.2_Missense_Mutation_p.L183P|SGK3_ENST00000345714.4_Missense_Mutation_p.L183P|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L183P|SGK3_ENST00000522398.1_Missense_Mutation_p.L183P	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	183	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.L116P(1)|p.L183P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAACGGAAACTGGATGGAAAA	0.289																																																	2	Substitution - Missense(2)	kidney(2)											46.0	53.0	51.0					8																	67748020		2199	4293	6492	SO:0001583	missense	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.548T>C	8.37:g.67748020T>C	ENSP00000379842:p.Leu183Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437920	0.43326	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.63	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.469814	0.22663	N	0.057179	T	0.45677	0.1354	N	0.03948	-0.315	0.35790	D	0.822326	B;B	0.29253	0.201;0.239	B;B	0.43623	0.3;0.425	T	0.56709	-0.7934	9	0.38643	T	0.18	.	7.5338	0.27697	0.0:0.0718:0.1417:0.7865	.	183;183	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	P	183;183;183;183;147;183;183;183;65;80	ENSP00000429022:L183P;ENSP00000430463:L183P;ENSP00000430256:L183P;ENSP00000430691:L183P;ENSP00000379842:L183P;ENSP00000331816:L183P;ENSP00000428529:L65P;ENSP00000429565:L80P	ENSP00000262211:L183P	L	+	2	0	SGK3	67910574	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.875000	0.39578	0.977000	0.38444	0.529000	0.55759	CTG		0.289	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			
SIPA1L3	23094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38591731	38591731	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:38591731G>A	ENST00000222345.6	+	6	2403	c.1894G>A	c.(1894-1896)Gcc>Acc	p.A632T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	632	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.A632T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTATTGCAAGGCCGGCCAGAG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											41.0	41.0	41.0					19																	38591731		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1894G>A	19.37:g.38591731G>A	ENSP00000222345:p.Ala632Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	36	5.777041	0.96929	.	.	ENSG00000105738	ENST00000222345	D	0.93906	-3.31	5.11	5.11	0.69529	Rap/ran-GAP (1);	0.054450	0.64402	D	0.000001	D	0.96034	0.8708	M	0.93062	3.375	0.58432	D	0.999997	B	0.25007	0.116	B	0.38264	0.269	D	0.95089	0.8220	10	0.59425	D	0.04	-19.7495	17.8292	0.88676	0.0:0.0:1.0:0.0	.	632	O60292	SI1L3_HUMAN	T	632	ENSP00000222345:A632T	ENSP00000222345:A632T	A	+	1	0	SIPA1L3	43283571	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	6.038000	0.70964	2.816000	0.96949	0.561000	0.74099	GCC		0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278	
EIF4EBP3	8637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139930679	139930679	+	IGR	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:139930679G>T	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.P156T	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)	p.P156T(1)		endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTTACAGGTATTGACAAC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											182.0	157.0	166.0					5																	139930679		2203	4300	6503	SO:0001628	intergenic_variant	10011			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139930679G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000310331.2	37	CCDS4226.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437781	0.62955	.	.	ENSG00000213523	ENST00000336283;ENST00000520427	T	0.50548	0.74	5.95	5.08	0.68730	.	0.179301	0.37530	U	0.002048	T	0.59404	0.2191	M	0.79926	2.475	0.45580	D	0.998527	P	0.47762	0.9	P	0.50934	0.654	T	0.62950	-0.6745	9	.	.	.	.	11.3476	0.49569	0.1387:0.0:0.8613:0.0	.	156	Q9HD15	SRA1_HUMAN	T	156;82	ENSP00000337513:P156T	.	P	-	1	0	SRA1	139910863	0.984000	0.35163	0.912000	0.35992	0.960000	0.62799	1.900000	0.39828	1.527000	0.49086	0.563000	0.77884	CCT		0.517	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2		NM_003732	
TCF3	6929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1612391	1612391	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:1612391C>A	ENST00000344749.5	-	18	1694	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	TCF3_ENST00000262965.5_Intron|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.R543M|TCF3_ENST00000453954.2_Missense_Mutation_p.R458M	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R543M(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGGTCCCTCAGGTCTTT	0.657			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																			Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	1	Substitution - Missense(1)	kidney(1)											66.0	64.0	64.0					19																	1612391		1568	3582	5150	SO:0001583	missense	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1628G>T	19.37:g.1612391C>A	ENSP00000344375:p.Arg543Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000344749.5	37	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443367	0.83993	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	D	0.97598	-4.45	4.63	4.63	0.57726	.	.	.	.	.	D	0.98419	0.9474	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	8	0.87932	D	0	.	16.8493	0.85989	0.0:1.0:0.0:0.0	.	543	P15923-2	.	M	543	ENSP00000344375:R543M	ENSP00000344375:R543M	R	-	2	0	TCF3	1563391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.893000	0.69798	2.284000	0.76573	0.561000	0.74099	AGG		0.657	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449375.1		NM_003200	
SUGP1	57794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19427268	19427268	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:19427268T>G	ENST00000247001.5	-	2	516	c.169A>C	c.(169-171)Aat>Cat	p.N57H	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.N57H	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.N57H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCCACCTGATTCTGCTTGGCT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											169.0	118.0	136.0					19																	19427268		2203	4300	6503	SO:0001583	missense	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.169A>C	19.37:g.19427268T>G	ENSP00000247001:p.Asn57His	Somatic		WXS	Illumina HiSeq	Phase_I	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405166	0.62288	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.24723	1.84	4.87	2.76	0.32466	.	0.288824	0.30401	N	0.009705	T	0.22044	0.0531	L	0.55481	1.735	0.21064	N	0.999796	P	0.43169	0.8	B	0.41088	0.347	T	0.11966	-1.0566	10	0.46703	T	0.11	.	4.9352	0.13937	0.0:0.1682:0.1555:0.6763	.	57	Q8IWZ8	SUGP1_HUMAN	H	57	ENSP00000247001:N57H	ENSP00000247001:N57H	N	-	1	0	SUGP1	19288268	0.995000	0.38212	0.924000	0.36721	0.994000	0.84299	2.092000	0.41700	0.304000	0.22809	0.454000	0.30748	AAT		0.527	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4		NM_021164	
TNK2	10188	broad.mit.edu	37	3	195594610	195594610	+	Silent	SNP	C	C	T	rs566117421		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:195594610C>T	ENST00000333602.6	-	12	3131	c.2514G>A	c.(2512-2514)ccG>ccA	p.P838P	TNK2_ENST00000428187.1_Silent_p.P870P|TNK2_ENST00000381916.2_Silent_p.P916P|TNK2_ENST00000392400.1_Silent_p.P838P	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	838	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.|PRA -> AG (in Ref. 1; AAA53570). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.P916P(1)|p.P838P(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GACCAGCCCGCGGGCCAGGGG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		10844	0.001		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)											19.0	21.0	20.0					3																	195594610		2190	4285	6475	SO:0001819	synonymous_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2514G>A	3.37:g.195594610C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																				0.652	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3		NM_005781	
TOB1	10140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48940954	48940954	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr17:48940954A>G	ENST00000268957.3	-	3	853	c.425T>C	c.(424-426)aTa>aCa	p.I142T	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Missense_Mutation_p.I142T	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	142					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.I142T(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGGTCACTTATGGGCATAAA	0.483											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)												1	Substitution - Missense(1)	kidney(1)											108.0	94.0	99.0					17																	48940954		2203	4300	6503	SO:0001583	missense	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.425T>C	17.37:g.48940954A>G	ENSP00000268957:p.Ile142Thr	Somatic	958	WXS	Illumina HiSeq	Phase_I	B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790640	0.50102	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.52295	0.67;0.67	5.55	5.55	0.83447	.	0.047210	0.85682	D	0.000000	T	0.70570	0.3239	M	0.83223	2.63	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.75886	-0.3159	10	0.87932	D	0	.	15.7075	0.77594	1.0:0.0:0.0:0.0	.	142	P50616	TOB1_HUMAN	T	142	ENSP00000427695:I142T;ENSP00000268957:I142T	ENSP00000268957:I142T	I	-	2	0	TOB1	46295953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.117000	0.64856	0.533000	0.62120	ATA		0.483	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			
TSHZ1	10194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72998494	72998494	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr18:72998494G>A	ENST00000580243.1	+	2	1480	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	TSHZ1_ENST00000322038.5_Missense_Mutation_p.E333K			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	378					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E333K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCCTGAGTGAGTCAGCCAA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											91.0	98.0	95.0					18																	72998494		2203	4300	6503	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1132G>A	18.37:g.72998494G>A	ENSP00000464391:p.Glu378Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	G	7.538	0.660076	0.14645	.	.	ENSG00000179981	ENST00000322038	T	0.12672	2.66	5.27	5.27	0.74061	.	0.240314	0.41500	D	0.000875	T	0.17916	0.0430	L	0.56769	1.78	0.50813	D	0.999896	B	0.31383	0.321	B	0.26770	0.073	T	0.01692	-1.1294	10	0.48119	T	0.1	-21.4624	18.8997	0.92437	0.0:0.0:1.0:0.0	.	378	Q6ZSZ6	TSH1_HUMAN	K	333	ENSP00000323584:E333K	ENSP00000323584:E333K	E	+	1	0	TSHZ1	71127482	1.000000	0.71417	0.071000	0.20095	0.089000	0.18198	9.282000	0.95840	1.986000	0.57962	0.459000	0.35465	GAG		0.627	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1		NM_005786	
UGT2B10	7365	broad.mit.edu;hgsc.bcm.edu	37	4	69692199	69692199	+	Silent	SNP	C	C	T	rs202031177	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr4:69692199C>T	ENST00000265403.7	+	4	1098	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	UGT2B10_ENST00000458688.2_Silent_p.P273P	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	357					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.P357P(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGTGGATACCCCAGAATGACC	0.378																																					Melanoma(133;755 1763 25578 26334 46021)												2	Substitution - coding silent(2)	kidney(2)											131.0	124.0	127.0					4																	69692199		2203	4300	6503	SO:0001819	synonymous_variant	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1071C>T	4.37:g.69692199C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37																																																																																					0.378	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1		NM_001075	
Unknown	0	broad.mit.edu	37	9	88464491	88464491	+	IGR	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:88464491T>A								RP11-213G2.2 (58042 upstream) : NAA35 (91569 downstream)																							CTAAGTATAATATGAAATGTT	0.373																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.88464491T>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.373									
UPF1	5976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18960913	18960913	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:18960913A>G	ENST00000599848.1	+	4	700	c.491A>G	c.(490-492)aAa>aGa	p.K164R	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.K164R			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	164	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K164R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGAGGGCAAAATGCAAAGAG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											90.0	89.0	89.0					19																	18960913		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.491A>G	19.37:g.18960913A>G	ENSP00000470142:p.Lys164Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	A	11.68	1.709503	0.30322	.	.	ENSG00000005007	ENST00000262803	D	0.90504	-2.68	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	N	0.11789	0.175	0.80722	D	1	B;B	0.13145	0.007;0.006	B;B	0.28709	0.093;0.056	T	0.74077	-0.3781	10	0.08179	T	0.78	-22.5562	13.2825	0.60224	1.0:0.0:0.0:0.0	.	164;164	Q92900;Q92900-2	RENT1_HUMAN;.	R	164	ENSP00000262803:K164R	ENSP00000262803:K164R	K	+	2	0	UPF1	18821913	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.873000	0.92357	1.801000	0.52704	0.482000	0.46254	AAA		0.522	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1		NM_002911	
VCAN	1462	broad.mit.edu;hgsc.bcm.edu	37	5	82834030	82834030	+	Silent	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:82834030T>A	ENST00000265077.3	+	8	5773	c.5208T>A	c.(5206-5208)tcT>tcA	p.S1736S	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.S749S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1736	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S1736S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTACGGCTTCTACATTTGAGG	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	82.0	80.0					5																	82834030		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5208T>A	5.37:g.82834030T>A		Somatic		WXS	Illumina HiSeq	Phase_I	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.398	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385	
VWA3B	200403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	98828414	98828414	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr2:98828414C>G	ENST00000477737.1	+	13	1963	c.1759C>G	c.(1759-1761)Ctg>Gtg	p.L587V	VWA3B_ENST00000451075.2_Missense_Mutation_p.L437V|VWA3B_ENST00000435344.1_Missense_Mutation_p.L587V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	587	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.L587V(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACAAACACCCTGAGTGCCCT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											98.0	98.0	98.0					2																	98828414		1862	4107	5969	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1759C>G	2.37:g.98828414C>G	ENSP00000417955:p.Leu587Val	Somatic		WXS	Illumina HiSeq	Phase_I	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	9.780	1.175101	0.21704	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.77620	-1.11;3.02;-1.11	5.55	0.29	0.15728	von Willebrand factor, type A (3);	0.350509	0.23981	N	0.042664	D	0.84320	0.5446	M	0.86268	2.805	0.09310	N	1	B;P;D;P	0.76494	0.245;0.662;0.999;0.873	B;B;D;P	0.76575	0.424;0.335;0.988;0.49	T	0.72443	-0.4292	10	0.59425	D	0.04	.	2.767	0.05323	0.1264:0.5293:0.1231:0.2212	.	437;587;587;587	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	V	587;587;437	ENSP00000401959:L587V;ENSP00000417955:L587V;ENSP00000389463:L437V	ENSP00000388158:L587V	L	+	1	2	VWA3B	98194846	0.962000	0.33011	0.070000	0.20053	0.535000	0.34838	0.697000	0.25556	0.124000	0.18369	-0.373000	0.07131	CTG		0.428	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992	
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	54424323	54424323	+	Silent	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr18:54424323A>G	ENST00000254442.3	+	15	2710	c.2499A>G	c.(2497-2499)gtA>gtG	p.V833V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V833V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	833					hematopoietic progenitor cell differentiation (GO:0002244)			p.V833V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACTGCACCGTATCGTTTGGCC	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											198.0	182.0	187.0					18																	54424323		2203	4300	6503	SO:0001819	synonymous_variant	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2499A>G	18.37:g.54424323A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	CCDS11962.1																																																																																				0.488	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			
ZNF285	26974	hgsc.bcm.edu	37	19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	rs77661661		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1		NM_152354	
ZNF608	57507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	124079840	124079840	+	Silent	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:124079840C>T	ENST00000306315.5	-	1	1278	c.843G>A	c.(841-843)ttG>ttA	p.L281L	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	281							metal ion binding (GO:0046872)	p.L281L(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTTCTTTACCAACATAGAGT	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											140.0	145.0	144.0					5																	124079840		2090	4117	6207	SO:0001819	synonymous_variant	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.843G>A	5.37:g.124079840C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	CCDS34219.1																																																																																				0.552	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432	
ZNF624	57547	hgsc.bcm.edu;ucsc.edu	37	17	16527779	16527779	+	Missense_Mutation	SNP	C	C	G	rs142158380	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr17:16527779C>G	ENST00000311331.7	-	6	512	c.421G>C	c.(421-423)Gct>Cct	p.A141P		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCAGAAATAGCCTTTGTTCGT	0.428													C|||	9	0.00179712	0.0061	0.0014	5008	,	,		17486	0.0		0.0	False		,,,				2504	0.0				NSCLC(186;1023 2134 13330 38202 39800)												0								C	PRO/ALA	18,4388	25.3+/-52.1	0,18,2185	105.0	100.0	102.0		421	-1.3	0.0	17	dbSNP_134	102	0,8600		0,0,4300	no	missense	ZNF624	NM_020787.3	27	0,18,6485	GG,GC,CC		0.0,0.4085,0.1384	benign	141/866	16527779	18,12988	2203	4300	6503	SO:0001583	missense	57547			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.421G>C	17.37:g.16527779C>G	ENSP00000310472:p.Ala141Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	0.120	-1.126563	0.01770	0.004085	0.0	ENSG00000197566	ENST00000311331	T	0.05139	3.49	2.95	-1.34	0.09143	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	1	B	0.22604	0.072	B	0.17433	0.018	T	0.45789	-0.9237	9	0.33940	T	0.23	.	7.486	0.27432	0.0:0.5656:0.0:0.4344	.	141	Q9P2J8	ZN624_HUMAN	P	141	ENSP00000310472:A141P	ENSP00000310472:A141P	A	-	1	0	ZNF624	16468504	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.153000	0.10144	-0.239000	0.09710	-0.136000	0.14681	GCT		0.428	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617	
