#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
ABCC6	368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	16256866	16256866	+	Nonsense_Mutation	SNP	G	G	A	rs72653744	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr16:16256866G>A	ENST00000205557.7	-	24	3519	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1164	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q (in PXE; autosomal recessive; dbSNP:rs63750457). {ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1164*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCCACCAGTCGCGGGAAACTG	0.547																																																	1	Substitution - Nonsense(1)	kidney(1)	GRCh37	CM001603	ABCC6	M	rs72653744	G	stop/ARG	0,4394		0,0,2197	133.0	141.0	138.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3490	2.0	1.0	16	dbSNP_130	138	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ABCC6	NM_001171.5		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1164/1504	16256866	1,12993	2197	4300	6497	SO:0001587	stop_gained	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3490C>T	16.37:g.16256866G>A	ENSP00000205557:p.Arg1164*	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Nonsense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	41	8.961498	0.99018	0.0	1.16E-4	ENSG00000091262	ENST00000205557	.	.	.	5.42	2.01	0.26516	.	0.469690	0.16852	U	0.196891	.	.	.	.	.	.	0.48696	D	0.999693	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.2199	0.31534	0.0:0.1644:0.2838:0.5518	.	.	.	.	X	1164	.	ENSP00000205557:R1164X	R	-	1	2	ABCC6	16164367	0.112000	0.22096	0.970000	0.41538	0.860000	0.49131	0.765000	0.26546	0.592000	0.29728	0.655000	0.94253	CGA		0.547	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			
ALG13	79868	broad.mit.edu;hgsc.bcm.edu	37	X	110987973	110987973	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:110987973C>A	ENST00000394780.3	+	24	2785	c.2773C>A	c.(2773-2775)Cca>Aca	p.P925T	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	925	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P925T(1)		endometrium(2)|lung(10)|skin(1)	13						accaccaccaccaccaccacc	0.527																																																	1	Substitution - Missense(1)	kidney(1)											23.0	16.0	19.0					X																	110987973		1521	3482	5003	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2773C>A	X.37:g.110987973C>A	ENSP00000378260:p.Pro925Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	c	7.704	0.693660	0.15039	.	.	ENSG00000101901	ENST00000394780	T	0.12039	2.72	2.8	1.91	0.25777	.	.	.	.	.	T	0.12774	0.0310	L	0.36672	1.1	0.09310	N	1	B;B	0.28552	0.215;0.069	B;B	0.38156	0.266;0.076	T	0.38329	-0.9666	9	0.34782	T	0.22	.	5.3481	0.16020	0.0:0.8261:0.0:0.1739	.	847;925	Q9NP73-3;Q9NP73	.;ALG13_HUMAN	T	925	ENSP00000378260:P925T	ENSP00000378260:P925T	P	+	1	0	ALG13	110874629	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	0.119000	0.15626	0.415000	0.25817	0.271000	0.19318	CCA		0.527	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1		NM_018466	
PHF7	51533	broad.mit.edu;ucsc.edu	37	3	52443729	52443729	+	5'Flank	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:52443729C>T	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Splice_Site|BAP1_ENST00000296288.5_Splice_Site	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AAGGCTCTTACCGAAATCTTC	0.662																																																	1	Unknown(1)	kidney(1)											41.0	48.0	46.0					3																	52443729		2203	4299	6502	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443729C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_I	K4DI82	Splice_Site	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587833	0.86851	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5758	0.87949	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52418769	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.356000	0.79445	2.228000	0.72767	0.655000	0.94253	.		0.662	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
LAMP5	24141	broad.mit.edu;hgsc.bcm.edu	37	20	9495509	9495509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr20:9495509C>T	ENST00000246070.2	+	1	502	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Nonsense_Mutation_p.Q4*	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	4						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.Q4*(1)									TATGGATCTCCAAGGAAGAGG	0.612																																																	1	Substitution - Nonsense(1)	kidney(1)											87.0	68.0	75.0					20																	9495509		2203	4300	6503	SO:0001587	stop_gained	0			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.10C>T	20.37:g.9495509C>T	ENSP00000246070:p.Gln4*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DHZ7|B7Z9Z9	Nonsense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	38	7.059469	0.98036	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	.	.	.	5.84	3.76	0.43208	.	0.542099	0.19920	N	0.103114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0141	10.4635	0.44594	0.4288:0.5712:0.0:0.0	.	.	.	.	X	4	.	.	Q	+	1	0	C20orf103	9443509	0.611000	0.26992	0.887000	0.34795	0.151000	0.21798	0.832000	0.27490	1.463000	0.47967	0.655000	0.94253	CAA		0.612	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2		NM_012261	
CAMK2A	815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149619293	149619293	+	Intron	SNP	T	T	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr5:149619293T>G	ENST00000348628.6	-	14	1650				CAMK2A_ENST00000398376.3_Missense_Mutation_p.K331Q|CAMK2A_ENST00000351010.6_Intron	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha						calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)	p.K331Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACTGGACTTTCTTTTCTGG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											104.0	105.0	105.0					5																	149619293		2028	4179	6207	SO:0001627	intron_variant	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.985-982A>C	5.37:g.149619293T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845568	0.32606	.	.	ENSG00000070808	ENST00000398376	T	0.68025	-0.3	5.49	5.49	0.81192	.	0.454089	0.19561	N	0.111337	T	0.54398	0.1856	L	0.29908	0.895	0.39598	D	0.969691	B;B	0.14438	0.01;0.006	B;B	0.15870	0.014;0.006	T	0.51498	-0.8698	10	0.13853	T	0.58	.	15.571	0.76337	0.0:0.0:0.0:1.0	.	331;331	Q9UQM7-2;A8K161	.;.	Q	331	ENSP00000381412:K331Q	ENSP00000381412:K331Q	K	-	1	0	CAMK2A	149599486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.244000	0.78228	2.096000	0.63516	0.402000	0.26972	AAG		0.547	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2		NM_015981	
CAPZA3	93661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	18891595	18891595	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:18891595C>T	ENST00000317658.3	+	1	551	c.393C>T	c.(391-393)gaC>gaT	p.D131D	PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	131					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.D131D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATGTGAATGACCACTATCCAA	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	82.0	85.0					12																	18891595		2203	4299	6502	SO:0001819	synonymous_variant	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.393C>T	12.37:g.18891595C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q969J0	Silent	SNP	ENST00000317658.3	37	CCDS8681.1																																																																																				0.383	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1		NM_033328	
CCDC33	80125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74565206	74565206	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr15:74565206C>G	ENST00000398814.3	+	7	1164	c.733C>G	c.(733-735)Cgc>Ggc	p.R245G	CCDC33_ENST00000321288.5_Missense_Mutation_p.R448G	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	448	C2.							p.R448G(1)|p.R245G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGACGTGCCTCGCGTCAGCCA	0.587																																																	2	Substitution - Missense(2)	kidney(2)											116.0	119.0	118.0					15																	74565206		2091	4206	6297	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.733C>G	15.37:g.74565206C>G	ENSP00000381795:p.Arg245Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	c	11.10	1.539522	0.27563	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.24151	1.87;2.17	4.37	4.37	0.52481	.	0.844382	0.10469	N	0.671057	T	0.31734	0.0806	L	0.48362	1.52	0.24821	N	0.992582	P;P	0.48407	0.91;0.872	P;P	0.47470	0.548;0.518	T	0.10567	-1.0624	10	0.41790	T	0.15	.	12.8226	0.57702	0.0:1.0:0.0:0.0	.	448;245	C9JFX2;Q8N5R6-6	.;.	G	448;245	ENSP00000325012:R448G;ENSP00000381795:R245G	ENSP00000325012:R448G	R	+	1	0	CCDC33	72352259	0.947000	0.32204	0.096000	0.21009	0.188000	0.23474	3.605000	0.54088	2.166000	0.68216	0.550000	0.68814	CGC		0.587	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2		NM_182791	
CCND2	894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	4398012	4398012	+	Silent	SNP	T	T	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:4398012T>C	ENST00000261254.3	+	4	845	c.576T>C	c.(574-576)ttT>ttC	p.F192F		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	192					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.F192F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTGCAGACTTTAAGTTTGCCA	0.552			T	IGL@	"""NHL,CLL"""																																			Dom	yes		12	12p13	894	cyclin D2		L	1	Substitution - coding silent(1)	kidney(1)											180.0	163.0	169.0					12																	4398012		2203	4300	6503	SO:0001819	synonymous_variant	894			AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.576T>C	12.37:g.4398012T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	CCDS8524.1																																																																																				0.552	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1		NM_001759	
CLDND2	125875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51870775	51870775	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:51870775G>C	ENST00000291715.1	-	3	791	c.366C>G	c.(364-366)aaC>aaG	p.N122K	CTD-2616J11.11_ENST00000600067.1_Intron|CLDND2_ENST00000601435.1_Missense_Mutation_p.N122K|CTD-2616J11.10_ENST00000595500.1_RNA|ETFB_ENST00000309244.4_5'Flank	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	122						integral component of membrane (GO:0016021)		p.N122K(1)		endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAAGACGTTGTTCTTCCACG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											71.0	72.0	72.0					19																	51870775		2203	4300	6503	SO:0001583	missense	125875			BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.366C>G	19.37:g.51870775G>C	ENSP00000291715:p.Asn122Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000291715.1	37	CCDS12829.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167785	0.38315	.	.	ENSG00000160318	ENST00000291715	D	0.88201	-2.35	4.41	-6.78	0.01721	.	1.675620	0.03389	N	0.201606	T	0.81264	0.4786	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.68288	-0.5448	10	0.05620	T	0.96	-0.0014	9.0529	0.36387	0.0:0.5363:0.2103:0.2534	.	122	Q8NHS1	CLDN2_HUMAN	K	122	ENSP00000291715:N122K	ENSP00000291715:N122K	N	-	3	2	CLDND2	56562587	0.000000	0.05858	0.063000	0.19743	0.852000	0.48524	-0.846000	0.04336	-0.402000	0.07633	0.491000	0.48974	AAC		0.582	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1		NM_152353	
COQ10A	93058	hgsc.bcm.edu;ucsc.edu	37	12	56662982	56662982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:56662982delG	ENST00000308197.5	+	3	682	c.421delG	c.(421-423)gtcfs	p.V141fs	COQ10A_ENST00000546544.1_Frame_Shift_Del_p.V124fs|COQ10A_ENST00000433805.2_Frame_Shift_Del_p.V109fs|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	141						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CTTTCCACCTGTCATGGAACG	0.493																																																	0													121.0	116.0	118.0					12																	56662982		1945	4126	6071	SO:0001589	frameshift_variant	93058			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.421delG	12.37:g.56662982delG	ENSP00000312587:p.Val141fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Frame_Shift_Del	DEL	ENST00000308197.5	37	CCDS41796.1																																																																																				0.493	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1		NM_144576	
CYP2C19	1557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96534859	96534859	+	Silent	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr10:96534859G>A	ENST00000371321.3	+	2	295	c.213G>A	c.(211-213)ctG>ctA	p.L71L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	71					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.L71L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATTTTGGCCTGGAACGCATGG	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											188.0	169.0	175.0					10																	96534859		2203	4300	6503	SO:0001819	synonymous_variant	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.213G>A	10.37:g.96534859G>A		Somatic		WXS	Illumina HiSeq	Phase_I	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	ENST00000371321.3	37	CCDS7436.1																																																																																				0.443	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1		NM_000769	
DUSP26	78986	broad.mit.edu;ucsc.edu	37	8	33451243	33451243	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr8:33451243C>T	ENST00000256261.4	-	3	761	c.244G>A	c.(244-246)Gag>Aag	p.E82K	DUSP26_ENST00000523956.1_Missense_Mutation_p.E82K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	82	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.E82K(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CGGCGAAGCTCCCGGCGGTTG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											52.0	49.0	50.0					8																	33451243		2203	4300	6503	SO:0001583	missense	78986			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.244G>A	8.37:g.33451243C>T	ENSP00000256261:p.Glu82Lys	Somatic		WXS	Illumina GAIIx	Phase_I	D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860278	0.32884	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.60548	0.18;0.18;0.18	4.76	4.76	0.60689	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.118844	0.64402	D	0.000010	T	0.41373	0.1156	N	0.16307	0.4	0.47737	D	0.999502	B	0.17667	0.023	B	0.19946	0.027	T	0.30001	-0.9993	10	0.09084	T	0.74	-36.327	17.7342	0.88388	0.0:1.0:0.0:0.0	.	82	Q9BV47	DUS26_HUMAN	K	82	ENSP00000256261:E82K;ENSP00000429176:E82K;ENSP00000430922:E82K	ENSP00000256261:E82K	E	-	1	0	DUSP26	33570785	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	5.947000	0.70242	2.359000	0.80004	0.563000	0.77884	GAG		0.617	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1		NM_024025	
EIF2B5	8893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183859715	183859715	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:183859715G>A	ENST00000273783.3	+	8	1281	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D387N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	387					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.D387N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGAGCCAGGTGATAACGTGGT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											130.0	116.0	121.0					3																	183859715		2203	4300	6503	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1159G>A	3.37:g.183859715G>A	ENSP00000273783:p.Asp387Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	15.25	2.779236	0.49891	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.94280	-3.39;-3.39	5.55	5.55	0.83447	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	L	0.58101	1.795	0.58432	D	0.999999	B;B	0.20887	0.004;0.049	B;B	0.17433	0.005;0.018	D	0.87585	0.2487	10	0.17369	T	0.5	.	17.6957	0.88281	0.0:0.0:1.0:0.0	.	387;387	E9PC74;Q13144	.;EI2BE_HUMAN	N	387;387;143	ENSP00000273783:D387N;ENSP00000409142:D387N	ENSP00000273783:D387N	D	+	1	0	EIF2B5	185342409	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.781000	0.68964	2.630000	0.89119	0.561000	0.74099	GAT		0.572	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			
TMEM255B	348013	hgsc.bcm.edu	37	13	114503876	114503916	+	Splice_Site	DEL	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA	-	rs9577890|rs111667140|rs41284485|rs9577889|rs114746443|rs66696122|rs371072437|rs115620789|rs550352190|rs386775130	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr13:114503876_114503916delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA	ENST00000375353.3	+	6	527_536	c.500_509delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA	c.(499-510)gcctgcgggagg>gg	p.ACGR167fs		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	167						integral component of membrane (GO:0016021)											GACCTCTATGCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAG	0.643																																																	0																																										SO:0001630	splice_region_variant	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.509+1CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA>-	13.37:g.114503876_114503916delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000375353.3	37	CCDS45071.1																																																																																				0.643	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4		NM_182614	Frame_Shift_Del
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126242662	126242662	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr4:126242662A>T	ENST00000394329.3	+	1	5109	c.5096A>T	c.(5095-5097)gAg>gTg	p.E1699V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1699	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1699V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGACCGGGAGCAAGGAGCA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											94.0	90.0	91.0					4																	126242662		1900	4121	6021	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5096A>T	4.37:g.126242662A>T	ENSP00000377862:p.Glu1699Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431927	0.83776	.	.	ENSG00000196159	ENST00000394329	T	0.59083	0.29	5.27	5.27	0.74061	Cadherin (3);Cadherin-like (1);	0.000000	0.34676	U	0.003761	D	0.82342	0.5016	H	0.94964	3.605	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87401	0.2369	10	0.66056	D	0.02	.	15.2098	0.73214	1.0:0.0:0.0:0.0	.	1699	Q6V0I7	FAT4_HUMAN	V	1699	ENSP00000377862:E1699V	ENSP00000377862:E1699V	E	+	2	0	FAT4	126462112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.052000	0.93855	1.997000	0.58415	0.533000	0.62120	GAG		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582	
FLJ36000	284124	broad.mit.edu	37	17	21904193	21904193	+	lincRNA	SNP	C	C	G	rs9904221	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:21904193C>G	ENST00000581223.2	+	0	0					NR_027084.1																						cagcctcaggcctgccaggac	0.672													C|||	1497	0.298922	0.3132	0.3084	5008	,	,		255042	0.4008		0.2266	False		,,,				2504	0.2423																0																																												284124																															17.37:g.21904193C>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581223.2	37																																																																																					0.672	RP11-744K17.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000451067.1			
FLJ36000	284124	broad.mit.edu	37	17	21904197	21904197	+	lincRNA	SNP	C	C	T	rs9904223	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:21904197C>T	ENST00000581223.2	+	0	0					NR_027084.1																						ctcaggcctgccaggacggtg	0.672													C|||	1497	0.298922	0.3132	0.3084	5008	,	,		238763	0.4008		0.2266	False		,,,				2504	0.2423																0																																												284124																															17.37:g.21904197C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581223.2	37																																																																																					0.672	RP11-744K17.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000451067.1			
GPATCH8	23131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42476348	42476348	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:42476348A>G	ENST00000591680.1	-	8	3127	c.3097T>C	c.(3097-3099)Tcc>Ccc	p.S1033P	GPATCH8_ENST00000434000.1_Missense_Mutation_p.S955P	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1033							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1033P(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGGACTGGGAGCGGTAGATC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											62.0	59.0	60.0					17																	42476348		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3097T>C	17.37:g.42476348A>G	ENSP00000467556:p.Ser1033Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723553	0.68959	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.16897	2.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.32530	0.975	0.58432	D	0.99999	D	0.76494	0.999	D	0.83275	0.996	T	0.02121	-1.1210	10	0.44086	T	0.13	-14.4698	15.2256	0.73348	1.0:0.0:0.0:0.0	.	1033	Q9UKJ3	GPTC8_HUMAN	P	1033;955	ENSP00000395016:S955P	ENSP00000335486:S1033P	S	-	1	0	GPATCH8	39831874	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.529000	0.90602	2.190000	0.69967	0.454000	0.30748	TCC		0.557	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		NM_001002909	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026120	176026143	+	In_Frame_Del	DEL	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	-	rs3797464|rs200519605|rs386695335|rs550332435|rs77245696|rs142779818|rs371149640|rs199714570|rs373697082|rs201635586	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENST00000303991.4	-	2	870_893	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	c.(691-717)aggaaggaggatcctgggtctttgaga>aga	p.231_239RKEDPGSLR>R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	231				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA	0.491																																																	1	Substitution - coding silent(1)	lung(1)								863,3329		131,601,1364						1.0	0.0		dbSNP_134	123	1529,6607		196,1137,2735	no	coding	GPRIN1	NM_052899.2		327,1738,4099	A1A1,A1R,RR		18.793,20.5868,19.403				2392,9936				SO:0001651	inframe_deletion	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	5.37:g.176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENSP00000305839:p.Arg231_Leu238del	Somatic		WXS	Illumina HiSeq	Phase_I	C9JM70|Q8ND74|Q96PZ4	In_Frame_Del	DEL	ENST00000303991.4	37	CCDS4405.1																																																																																				0.491	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1		NM_052899	
HHATL	57467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42734320	42734320	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:42734320C>T	ENST00000441594.1	-	12	1699	c.1438G>A	c.(1438-1440)Gtc>Atc	p.V480I	HHATL_ENST00000310417.5_Missense_Mutation_p.V480I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	480					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.V480I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACCAGCTGGACGCCACAGTAG	0.597																																																	2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											102.0	87.0	92.0					3																	42734320		2203	4300	6503	SO:0001583	missense	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1438G>A	3.37:g.42734320C>T	ENSP00000405423:p.Val480Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	5.605|5.605	0.296373|0.296373	0.10622|0.10622	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000426666|ENST00000310417;ENST00000441594	.|T;T	.|0.19250	.|2.16;2.16	3.25|3.25	3.25|3.25	0.37280|0.37280	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.12008|0.12008	0.0292|0.0292	L|L	0.29908|0.29908	0.895|0.895	0.53005|0.53005	D|D	0.999963|0.999963	.|P	.|0.37688	.|0.605	.|B	.|0.21151	.|0.033	T|T	0.16012|0.16012	-1.0417|-1.0417	5|10	.|0.26408	.|T	.|0.33	-28.7581|-28.7581	13.7052|13.7052	0.62633|0.62633	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|480	.|Q9HCP6	.|HHATL_HUMAN	H|I	99|480	.|ENSP00000310621:V480I;ENSP00000405423:V480I	.|ENSP00000310621:V480I	R|V	-|-	2|1	0|0	HHATL|HHATL	42709324|42709324	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.126000|0.126000	0.20510|0.20510	2.857000|2.857000	0.48349|0.48349	1.681000|1.681000	0.50988|0.50988	0.177000|0.177000	0.17058|0.17058	CGT|GTC		0.597	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1		NM_020707	
IL22	50616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	68646407	68646407	+	Silent	SNP	C	C	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:68646407C>A	ENST00000538666.1	-	4	343	c.273G>T	c.(271-273)ctG>ctT	p.L91L	IL22_ENST00000328087.4_Silent_p.L91L			Q9GZX6	IL22_HUMAN	interleukin 22	91					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)	p.L91L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CCTGCTTCATCAGATAGCAGC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	87.0	91.0					12																	68646407		2203	4300	6503	SO:0001819	synonymous_variant	50616			AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.273G>T	12.37:g.68646407C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000538666.1	37	CCDS8982.1																																																																																				0.517	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1		NM_020525	
HIP1R	9026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123340840	123340841	+	Nonsense_Mutation	DNP	GA	GA	CT			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:123340840_123340841GA>CT	ENST00000253083.4	+	15	1475_1476	c.1350_1351GA>CT	c.(1348-1353)ctGAag>ctCTag	p.K451*		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	451					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.L450L(1)|p.K451*(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACAACAAGCTGAAGGAAAAGCA	0.663																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001587	stop_gained	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	Exception_encountered	12.37:g.123340840_123340841delinsCT	ENSP00000253083:p.Lys451*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHQ6|Q6NXG8|Q9UED9	Silent|Nonsense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1																																																																																				0.663	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959	
KAT2A	2648	hgsc.bcm.edu	37	17	40270030	40270068	+	Splice_Site	DEL	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	-	rs35478347|rs202225093|rs72232846|rs386797146|rs58992933|rs146062629|rs140809269|rs200290136|rs73986523	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:40270030_40270068delCTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	ENST00000225916.5	-	8	1234_1239	c.1181_1186delCCCCCCATCCCTGACGTCTCTCTCTCTCCTCAGCTTCAG	c.(1180-1188)gccccccat>gat	p.394_396APH>D		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	394					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTGCACTGACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGGCTGAAGCTGA	0.611																																																	0																																										SO:0001630	splice_region_variant	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1181-1CCCCCCATCCCTGACGTCTCTCTCTCTCCTCAGCTTCAG>-	17.37:g.40270030_40270068delCTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N1A2|Q9UCW1	Frame_Shift_Del	DEL	ENST00000225916.5	37	CCDS11417.1																																																																																				0.611	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1		NM_021078	In_Frame_Del
KIAA0100	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26969021	26969021	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:26969021T>C	ENST00000528896.2	-	7	726	c.652A>G	c.(652-654)Act>Gct	p.T218A	KIAA0100_ENST00000389003.3_Missense_Mutation_p.T75A|KIAA0100_ENST00000544884.1_Missense_Mutation_p.T75A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	218						extracellular region (GO:0005576)		p.T218A(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGATAGCAGTGAGATGCCGA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											92.0	80.0	84.0					17																	26969021		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.652A>G	17.37:g.26969021T>C	ENSP00000436773:p.Thr218Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	9.002	0.980290	0.18812	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.21932	1.98;2.01	5.78	5.78	0.91487	FMP27, N-terminal (1);	0.290003	0.41097	D	0.000941	T	0.10809	0.0264	N	0.14661	0.345	0.21897	N	0.999486	B;B;B	0.18968	0.032;0.001;0.001	B;B;B	0.16289	0.015;0.003;0.007	T	0.20571	-1.0271	10	0.25106	T	0.35	.	5.8239	0.18542	0.0:0.0873:0.1706:0.7421	.	75;218;218	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	A	218;218;218;75	ENSP00000436773:T218A;ENSP00000446443:T75A	ENSP00000005905:T218A	T	-	1	0	KIAA0100	23993148	0.999000	0.42202	0.946000	0.38457	0.534000	0.34807	1.681000	0.37618	2.205000	0.71048	0.533000	0.62120	ACT		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																																	0																																										SO:0001651	inframe_deletion	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del	Somatic		WXS	Illumina HiSeq	Phase_I	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1		NM_001004325	
KRTAP5-11	440051	hgsc.bcm.edu	37	11	71293818	71293818	+	Silent	SNP	C	C	T	rs200909312	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr11:71293818C>T	ENST00000398530.1	-	1	103	c.66G>A	c.(64-66)ggG>ggA	p.G22G	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	22						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCACAGCCCCCACTGCCGG	0.632																																																	0													33.0	49.0	43.0					11																	71293818		2193	4282	6475	SO:0001819	synonymous_variant	440051			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.66G>A	11.37:g.71293818C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000398530.1	37	CCDS41685.1																																																																																				0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1		NM_001005405	
L1CAM	3897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153129373	153129373	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:153129373C>A	ENST00000370060.1	-	26	3611	c.3422G>T	c.(3421-3423)tGc>tTc	p.C1141F	L1CAM_ENST00000370057.3_Missense_Mutation_p.C1141F|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1143F|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1143F|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1136F|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1136F|L1CAM_ENST00000361699.4_Missense_Mutation_p.C1141F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1141					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.C1141F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGATGAAGCAGAGGATGAG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											91.0	70.0	77.0					X																	153129373		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3422G>T	X.37:g.153129373C>A	ENSP00000359077:p.Cys1141Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155687	0.57259	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.28;-0.25;-0.25;-0.29	4.11	4.11	0.48088	.	0.000000	0.64402	D	0.000014	T	0.79947	0.4534	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.994;0.966;0.995	T	0.83037	-0.0159	10	0.87932	D	0	.	14.4461	0.67349	0.0:1.0:0.0:0.0	.	1136;1141;1141	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	F	1141;1143;1141;1143;1136;1136;1141	ENSP00000359077:C1141F;ENSP00000438430:C1143F;ENSP00000359074:C1141F;ENSP00000439645:C1143F;ENSP00000354712:C1136F;ENSP00000359072:C1136F;ENSP00000355380:C1141F	ENSP00000355380:C1141F	C	-	2	0	L1CAM	152782567	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.521000	0.81832	1.899000	0.54978	0.529000	0.55759	TGC		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003	
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6983124	6983124	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr18:6983124G>T	ENST00000389658.3	-	40	5863	c.5770C>A	c.(5770-5772)Cac>Aac	p.H1924N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1924	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.H1924N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACAGTCCTGTGAGCATCTCTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											112.0	104.0	107.0					18																	6983124		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5770C>A	18.37:g.6983124G>T	ENSP00000374309:p.His1924Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746662	0.15710	.	.	ENSG00000101680	ENST00000389658	T	0.16073	2.37	5.87	4.06	0.47325	.	0.992252	0.08196	N	0.983124	T	0.10852	0.0265	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38607	-0.9653	10	0.15952	T	0.53	.	3.8731	0.09045	0.1224:0.1464:0.5803:0.1509	.	1924	P25391	LAMA1_HUMAN	N	1924	ENSP00000374309:H1924N	ENSP00000374309:H1924N	H	-	1	0	LAMA1	6973124	0.266000	0.24112	0.014000	0.15608	0.024000	0.10985	1.538000	0.36094	1.468000	0.48064	0.650000	0.86243	CAC		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559	
LMTK3	114783	broad.mit.edu	37	19	48994751	48994751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:48994751delC	ENST00000600059.1	-	13	4365	c.4138delG	c.(4138-4140)gacfs	p.D1380fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.D1409fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1380	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGTCCGTGTCCCCCTCGGGG	0.662																																																	0													5.0	7.0	6.0					19																	48994751		1750	3910	5660	SO:0001589	frameshift_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4138delG	19.37:g.48994751delC	ENSP00000472020:p.Asp1380fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37																																																																																					0.662	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1		NM_052895	
LOC644669	644669	broad.mit.edu	37	18	15323316	15323316	+	RNA	SNP	G	G	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr18:15323316G>C	ENST00000455308.2	-	0	532				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						TCCACAATTTGCTCACTTCTT	0.303																																																	0																																												644669																															18.37:g.15323316G>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000455308.2	37																																																																																					0.303	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			
LTA4H	4048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96397644	96397644	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:96397644C>T	ENST00000228740.2	-	17	1726	c.1585G>A	c.(1585-1587)Gcc>Acc	p.A529T	LTA4H_ENST00000413268.2_Intron|LTA4H_ENST00000552789.1_Missense_Mutation_p.A505T|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000548375.1_5'Flank	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	529					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A529T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TTGTTAATGGCATTGAAGTTG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											182.0	151.0	162.0					12																	96397644		2203	4300	6503	SO:0001583	missense	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1585G>A	12.37:g.96397644C>T	ENSP00000228740:p.Ala529Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236796	0.39498	.	.	ENSG00000111144	ENST00000228740;ENST00000552789	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.261968	0.44285	D	0.000469	T	0.35566	0.0936	L	0.38531	1.155	0.80722	D	1	B;B	0.22276	0.059;0.067	B;B	0.16289	0.009;0.015	T	0.11397	-1.0589	10	0.16896	T	0.51	-8.2141	19.6799	0.95958	0.0:1.0:0.0:0.0	.	505;529	F8VV40;P09960	.;LKHA4_HUMAN	T	529;505	ENSP00000228740:A529T;ENSP00000449958:A505T	ENSP00000228740:A529T	A	-	1	0	LTA4H	94921775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.041000	0.57339	2.739000	0.93911	0.555000	0.69702	GCC		0.378	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1		NM_000895	
MBTPS1	8720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84101412	84101412	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr16:84101412C>T	ENST00000343411.3	-	16	2583	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	696					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.V696V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTCACTGTCCACCATCAGCA	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											79.0	67.0	71.0					16																	84101412		2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2088G>A	16.37:g.84101412C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	CCDS10941.1																																																																																				0.527	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2		NM_003791	
MFSD7	84179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	680061	680061	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr4:680061C>T	ENST00000404286.2	-	3	340	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.G45R|MFSD7_ENST00000322224.4_Missense_Mutation_p.G109R|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000513740.1_Intron	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	109					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.G109R(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGCACACTCCCGGCAAAGTTC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											61.0	59.0	60.0					4																	680061		2203	4300	6503	SO:0001583	missense	84179			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.325G>A	4.37:g.680061C>T	ENSP00000384616:p.Gly109Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		.	.	.	.	.	.	.	.	.	.	C	16.62	3.172958	0.57584	.	.	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000503156;ENST00000507165	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.63	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.91768	3.24	0.47547	D	0.99945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85829	0.1390	10	0.87932	D	0	-29.3812	12.8677	0.57948	0.0:1.0:0.0:0.0	.	45;109;109	D6RIZ6;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	R	109;109;45;45	ENSP00000320234:G109R;ENSP00000384616:G109R;ENSP00000425753:G45R;ENSP00000424556:G45R	ENSP00000320234:G109R	G	-	1	0	MFSD7	670061	0.994000	0.37717	0.827000	0.32855	0.125000	0.20455	3.683000	0.54663	2.420000	0.82092	0.561000	0.74099	GGG		0.652	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1		NM_032219	
MST1L	11223	broad.mit.edu	37	1	17084021	17084021	+	RNA	SNP	C	C	G	rs2446543	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr1:17084021C>G	ENST00000455405.2	-	0	691							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A634P(1)									ACCTCACAGGCCCCCACAGGG	0.572																																																	1	Substitution - Missense(1)	kidney(1)																																										0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084021C>G		Somatic		WXS	Illumina GAIIx	Phase_I	B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37		.	.	.	.	.	.	.	.	.	.	.	9.021	0.984781	0.18889	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41938	D	0.000787	T	0.57431	0.2053	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61426	-0.7065	6	0.15499	T	0.54	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	rs2446543	634;660	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	P	634;660	.	ENSP00000439273:A634P	A	-	1	0	MST1P9	16956608	0.997000	0.39634	0.867000	0.34043	0.000000	0.00434	4.380000	0.59581	0.502000	0.28037	0.000000	0.15137	GCC		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1		NM_001271733	
MUC4	4585	broad.mit.edu	37	3	195507228	195507228	+	Missense_Mutation	SNP	G	G	C	rs375915811|rs74187968		TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:195507228G>C	ENST00000463781.3	-	2	11682	c.11223C>G	c.(11221-11223)caC>caG	p.H3741Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H3741Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3741Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGACGTGACCTGTGG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											26.0	26.0	26.0					3																	195507228		668	1583	2251	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11223C>G	3.37:g.195507228G>C	ENSP00000417498:p.His3741Gln	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	7.779	0.709128	0.15239	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.52;1.44	0.885	-1.56	0.08532	.	0.000000	0.25267	U	0.031920	T	0.16514	0.0397	N	0.19112	0.55	0.09310	N	1	D	0.52996	0.957	P	0.45071	0.468	T	0.25328	-1.0135	9	.	.	.	.	5.328	0.15917	0.2604:0.0:0.7396:0.0	.	3613	E7ESK3	.	Q	3741	ENSP00000417498:H3741Q;ENSP00000420243:H3741Q	.	H	-	3	2	MUC4	196992007	0.000000	0.05858	0.032000	0.17829	0.049000	0.14656	0.317000	0.19487	-0.535000	0.06307	0.064000	0.15345	CAC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195511310	195511310	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:195511310G>C	ENST00000463781.3	-	2	7600	c.7141C>G	c.(7141-7143)Cac>Gac	p.H2381D	MUC4_ENST00000475231.1_Missense_Mutation_p.H2381D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H2381D(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTGACCTGAGGAT	0.592																																																	3	Substitution - Missense(3)	kidney(2)|endometrium(1)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7141C>G	3.37:g.195511310G>C	ENSP00000417498:p.His2381Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	1.138	-0.650349	0.03506	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29397	1.57;1.57	.	.	.	.	.	.	.	.	T	0.13243	0.0321	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18650	-1.0330	7	.	.	.	.	3.5687	0.07909	0.0:0.2526:0.4955:0.2518	.	2381	E7ESK3	.	D	2381	ENSP00000417498:H2381D;ENSP00000420243:H2381D	.	H	-	1	0	MUC4	196995705	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-3.920000	0.00334	-2.619000	0.00441	-2.366000	0.00237	CAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27409435	27409435	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:27409435G>T	ENST00000527372.1	-	41	6099	c.5919C>A	c.(5917-5919)gaC>gaA	p.D1973E	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.D1921E|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1958E|MYO18A_ENST00000354329.4_Missense_Mutation_p.D1973E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1973					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.D1973E(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCAGCTCCGAGTCCACATCAG	0.562																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	kidney(2)											53.0	52.0	53.0					17																	27409435		2055	4209	6264	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5919C>A	17.37:g.27409435G>T	ENSP00000437073:p.Asp1973Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.064508|4.064508	0.76187|0.76187	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	D;D;D;D|.	0.89552|.	-2.28;-2.53;-2.39;-2.28|.	5.83|5.83	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43411|0.43411	0.1246|0.1246	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.996;1.0;1.0;0.999|.	D;D;D;D|.	0.83275|.	0.99;0.996;0.996;0.991|.	T|T	0.21280|0.21280	-1.0250|-1.0250	10|5	0.18710|.	T|.	0.47|.	.|.	9.5587|9.5587	0.39355|0.39355	0.2621:0.0:0.7379:0.0|0.2621:0.0:0.7379:0.0	.|.	1561;1921;1958;1973|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	E|N	1973;1921;1921;1958;1973;854;854;1561;239|221	ENSP00000346291:D1973E;ENSP00000435932:D1921E;ENSP00000434228:D1958E;ENSP00000437073:D1973E|.	ENSP00000346291:D1973E|.	D|T	-|-	3|2	2|0	MYO18A|MYO18A	24433561|24433561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.276000|1.276000	0.33156|0.33156	1.469000|1.469000	0.48083|0.48083	-0.137000|-0.137000	0.14449|0.14449	GAC|ACT		0.562	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471	
NKRF	55922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118724876	118724876	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:118724876T>A	ENST00000371527.1	-	2	1164	c.512A>T	c.(511-513)cAg>cTg	p.Q171L	NKRF_ENST00000304449.5_Missense_Mutation_p.Q171L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.Q186L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	171	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q186L(1)|p.Q171L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AATAAAATACTGCTTCTCGGC	0.413																																																	2	Substitution - Missense(2)	kidney(2)											76.0	75.0	75.0					X																	118724876		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.512A>T	X.37:g.118724876T>A	ENSP00000360582:p.Gln171Leu	Somatic		WXS	Illumina HiSeq	Phase_I	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430086	0.62844	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.59638	0.26;0.26;0.25	5.69	5.69	0.88448	.	0.116813	0.64402	D	0.000014	T	0.53546	0.1803	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.50082	0.63	T	0.59537	-0.7436	10	0.72032	D	0.01	-10.9531	14.0269	0.64590	0.0:0.0:0.0:1.0	.	171	O15226	NKRF_HUMAN	L	171;171;186	ENSP00000360582:Q171L;ENSP00000304803:Q171L;ENSP00000442308:Q186L	ENSP00000304803:Q171L	Q	-	2	0	NKRF	118608904	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.222000	0.78025	1.910000	0.55303	0.481000	0.45027	CAG		0.413	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1		NM_017544	
NR1D2	9975	hgsc.bcm.edu;ucsc.edu	37	3	24018838	24018838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:24018838delA	ENST00000312521.4	+	8	1987	c.1668delA	c.(1666-1668)ctafs	p.L556fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	556	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AACTGCTTCTAAAGTTGCCAG	0.393																																																	0													75.0	80.0	79.0					3																	24018838		2203	4300	6503	SO:0001589	frameshift_variant	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1668delA	3.37:g.24018838delA	ENSP00000310006:p.Leu556fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8Q3|O00402|Q86XD4	Frame_Shift_Del	DEL	ENST00000312521.4	37	CCDS33718.1																																																																																				0.393	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			
OR10H1	26539	broad.mit.edu;hgsc.bcm.edu	37	19	15918103	15918103	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:15918103C>G	ENST00000334920.2	-	1	833	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V249L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGCACGACCACCACAGTGAGG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											84.0	66.0	72.0					19																	15918103		2203	4298	6501	SO:0001583	missense	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.745G>C	19.37:g.15918103C>G	ENSP00000335596:p.Val249Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	12.83	2.055911	0.36277	.	.	ENSG00000186723	ENST00000334920	T	0.00355	7.91	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000407	T	0.00998	0.0033	M	0.87456	2.885	0.30110	N	0.806645	D	0.89917	1.0	D	0.91635	0.999	T	0.14254	-1.0479	10	0.72032	D	0.01	.	15.6789	0.77352	0.0:1.0:0.0:0.0	.	249	Q9Y4A9	O10H1_HUMAN	L	249	ENSP00000335596:V249L	ENSP00000335596:V249L	V	-	1	0	OR10H1	15779103	0.890000	0.30428	0.929000	0.37066	0.018000	0.09664	1.826000	0.39092	2.286000	0.76751	0.643000	0.83706	GTG		0.557	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			
OR4C15	81309	hgsc.bcm.edu	37	11	55322635	55322635	+	Missense_Mutation	SNP	G	G	C	rs72140406	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr11:55322635G>C	ENST00000314644.2	+	1	853	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CAGTTCTGAAGGGCGCTGGAA	0.448										HNSCC(20;0.049)																																							0													216.0	202.0	207.0					11																	55322635		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.853G>C	11.37:g.55322635G>C	ENSP00000324958:p.Gly285Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682896	0.29872	.	.	ENSG00000181939	ENST00000314644	T	0.00295	8.25	5.02	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00845	0.0028	M	0.90977	3.165	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.31081	-0.9956	9	0.72032	D	0.01	.	10.4254	0.44375	0.1003:0.0:0.8997:0.0	.	231	Q8NGM1	OR4CF_HUMAN	R	285	ENSP00000324958:G285R	ENSP00000324958:G285R	G	+	1	0	OR4C15	55079211	0.001000	0.12720	0.152000	0.22495	0.139000	0.21198	1.001000	0.29783	1.276000	0.44395	0.385000	0.25706	GGG		0.448	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1		NM_001001920	
PCDHB1	29930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140432180	140432180	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr5:140432180C>T	ENST00000306549.3	+	1	1202	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	375	Cadherin 4. {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.D375D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACCGGGACATTCGAGTGG	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	104.0	107.0					5																	140432180		2203	4300	6503	SO:0001819	synonymous_variant	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1125C>T	5.37:g.140432180C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M257	Silent	SNP	ENST00000306549.3	37	CCDS4243.1																																																																																				0.493	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340	
PLCB4	5332	broad.mit.edu;hgsc.bcm.edu	37	20	9318701	9318701	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr20:9318701G>T	ENST00000378493.1	+	3	227	c.212G>T	c.(211-213)gGa>gTa	p.G71V	PLCB4_ENST00000414679.2_Missense_Mutation_p.G71V|PLCB4_ENST00000378473.3_Missense_Mutation_p.G71V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.G71V|PLCB4_ENST00000334005.3_Missense_Mutation_p.G71V|PLCB4_ENST00000278655.4_Missense_Mutation_p.G71V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	71					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G71V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTCGGTCGGGAGCCATACCA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											131.0	100.0	110.0					20																	9318701		2203	4300	6503	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.212G>T	20.37:g.9318701G>T	ENSP00000367754:p.Gly71Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168512	0.78339	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000278655;ENST00000378493;ENST00000378501	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.78	4.81	0.61882	Pleckstrin homology-type (1);	0.105878	0.64402	D	0.000005	D	0.91637	0.7357	M	0.85197	2.74	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.998	D;P;D	0.70487	0.966;0.808;0.969	D	0.93103	0.6510	10	0.87932	D	0	.	16.4929	0.84207	0.0:0.1353:0.8647:0.0	.	71;71;71	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	V	71	ENSP00000385805:G71V;ENSP00000412982:G71V;ENSP00000334105:G71V;ENSP00000367734:G71V;ENSP00000391614:G71V;ENSP00000278655:G71V;ENSP00000367754:G71V;ENSP00000367762:G71V	ENSP00000278655:G71V	G	+	2	0	PLCB4	9266701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.721000	0.74728	1.422000	0.47177	0.655000	0.94253	GGA		0.408	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			
PLCH1	23007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	155215167	155215167	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:155215167T>G	ENST00000340059.7	-	14	1799	c.1800A>C	c.(1798-1800)gaA>gaC	p.E600D	PLCH1_ENST00000414191.1_Missense_Mutation_p.E582D|PLCH1_ENST00000447496.2_Missense_Mutation_p.E600D|PLCH1_ENST00000334686.6_Missense_Mutation_p.E582D|PLCH1_ENST00000460012.1_Missense_Mutation_p.E582D|PLCH1_ENST00000494598.1_Missense_Mutation_p.E600D	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	600					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E600D(1)|p.E582D(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATCAGAGAGTTCTCGGCAGA	0.468																																																	2	Substitution - Missense(2)	kidney(2)											134.0	122.0	126.0					3																	155215167		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1800A>C	3.37:g.155215167T>G	ENSP00000345988:p.Glu600Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.987185	0.35036	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.76	-0.871	0.10642	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (1);	0.395973	0.29916	N	0.010862	T	0.49115	0.1538	L	0.55990	1.75	0.28324	N	0.922087	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.15484	0.008;0.013;0.001	T	0.20107	-1.0285	10	0.24483	T	0.36	.	0.7479	0.00985	0.2403:0.3505:0.1602:0.249	.	582;600;600	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	D	600;582;600;600;582;582	ENSP00000419100:E600D;ENSP00000417502:E582D;ENSP00000402759:E600D;ENSP00000345988:E600D;ENSP00000335469:E582D;ENSP00000412977:E582D	ENSP00000335469:E582D	E	-	3	2	PLCH1	156697861	0.999000	0.42202	0.985000	0.45067	0.986000	0.74619	0.743000	0.26231	-0.037000	0.13646	0.533000	0.62120	GAA		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996	
RBM24	221662	hgsc.bcm.edu	37	6	17292140	17292140	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr6:17292140C>T	ENST00000379052.5	+	4	737	c.501C>T	c.(499-501)gcC>gcT	p.A167A	RBM24_ENST00000425446.2_Silent_p.A109A|RBM24_ENST00000318204.5_Silent_p.A122A|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	167	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ctgctgctgccgccgccgctg	0.597																																																	0													19.0	25.0	23.0					6																	17292140		2163	4213	6376	SO:0001819	synonymous_variant	221662			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.501C>T	6.37:g.17292140C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Silent	SNP	ENST00000379052.5	37	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104330	0.08731	.	.	ENSG00000112183	ENST00000503965	.	.	.	5.71	-4.97	0.03029	.	.	.	.	.	T	0.10981	0.0268	.	.	.	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.15870	0.014;0.014	T	0.27331	-1.0077	6	.	.	.	-1.1389	1.4301	0.02332	0.1688:0.328:0.2466:0.2565	.	66;81	B7Z6B4;B7Z6B7	.;.	L	132	.	.	P	+	2	0	RBM24	17400119	0.001000	0.12720	0.922000	0.36590	0.944000	0.59088	-2.068000	0.01382	-0.545000	0.06224	0.591000	0.81541	CCG		0.597	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2		NM_153020	
RPL28	6158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55899365	55899365	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:55899365C>G	ENST00000344063.2	+	4	902	c.273C>G	c.(271-273)agC>agG	p.S91R	RPL28_ENST00000558815.1_Missense_Mutation_p.S91R|RPL28_ENST00000560583.1_Missense_Mutation_p.S91R|RPL28_ENST00000559463.1_Missense_Mutation_p.S91R|RPL28_ENST00000560055.1_Missense_Mutation_p.S91R|RPL28_ENST00000558131.1_Missense_Mutation_p.A85G|RPL28_ENST00000458349.2_Missense_Mutation_p.S91R			P46779	RL28_HUMAN	ribosomal protein L28	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S91R(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CCACGCTCAGCAGCATCAGAC	0.622																																																	2	Substitution - Missense(2)	kidney(2)											97.0	87.0	90.0					19																	55899365		2203	4300	6503	SO:0001583	missense	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.273C>G	19.37:g.55899365C>G	ENSP00000342787:p.Ser91Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756061	0.49362	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.41758	0.99;0.99	3.44	2.38	0.29361	.	0.256089	0.40554	N	0.001069	T	0.33990	0.0882	L	0.46157	1.445	0.41917	D	0.99049	B;B;B	0.33612	0.419;0.419;0.01	B;B;B	0.37267	0.178;0.245;0.027	T	0.06463	-1.0825	10	0.21540	T	0.41	.	9.2424	0.37504	0.0:0.8839:0.0:0.1161	.	91;91;91	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	R	91	ENSP00000342787:S91R;ENSP00000401450:S91R	ENSP00000342787:S91R	S	+	3	2	RPL28	60591177	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.479000	0.53165	0.732000	0.32470	0.462000	0.41574	AGC		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2		NM_000991	
SERPINF2	5345	broad.mit.edu;ucsc.edu	37	17	1650770	1650770	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:1650770A>G	ENST00000324015.3	+	7	756	c.679A>G	c.(679-681)Acc>Gcc	p.T227A	SERPINF2_ENST00000382061.4_Missense_Mutation_p.T227A|SERPINF2_ENST00000450523.2_Missense_Mutation_p.T163A	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	227					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T227A(1)		breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GCCGGAAGACACCGTGTTGCT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											77.0	61.0	66.0					17																	1650770		2203	4300	6503	SO:0001583	missense	5345			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.679A>G	17.37:g.1650770A>G	ENSP00000321853:p.Thr227Ala	Somatic		WXS	Illumina GAIIx	Phase_I	B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	A	4.299	0.054831	0.08291	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000382061	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.55	4.48	0.54585	Serpin domain (3);	0.434279	0.26457	N	0.024273	D	0.85809	0.5783	M	0.77313	2.365	0.20403	N	0.999905	B;B	0.12013	0.0;0.005	B;B	0.11329	0.001;0.006	T	0.78109	-0.2332	10	0.62326	D	0.03	.	8.8604	0.35253	0.8557:0.0:0.1443:0.0	.	163;227	B4E1B7;P08697	.;A2AP_HUMAN	A	227;227;163;163;227	ENSP00000402286:T227A;ENSP00000321853:T227A;ENSP00000403877:T163A;ENSP00000371493:T227A	ENSP00000321853:T227A	T	+	1	0	SERPINF2	1597520	0.531000	0.26338	0.041000	0.18516	0.068000	0.16541	2.706000	0.47135	0.953000	0.37825	-0.274000	0.10170	ACC		0.582	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3		NM_000934	
SLC12A8	84561	broad.mit.edu	37	3	124906161	124906161	+	Missense_Mutation	SNP	C	C	T	rs376320288		TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:124906161C>T	ENST00000393469.4	-	3	359	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.G133S|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G104S	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	104					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G104S(1)|p.G142S(1)		endometrium(2)|kidney(2)|lung(12)	16						TAGACGCCACCGCTGCCGATG	0.647																																																	2	Substitution - Missense(2)	kidney(2)						C	SER/GLY,SER/GLY	1,4347		0,1,2173	57.0	78.0	71.0		310,310	5.2	0.7	3		71	1,8545		0,1,4272	no	missense,missense	SLC12A8	NM_001195483.1,NM_024628.5	56,56	0,2,6445	TT,TC,CC		0.0117,0.023,0.0155	probably-damaging,probably-damaging	104/715,104/715	124906161	2,12892	2174	4273	6447	SO:0001583	missense	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.310G>A	3.37:g.124906161C>T	ENSP00000377112:p.Gly104Ser	Somatic		WXS	Illumina GAIIx	Phase_I	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.473851|4.473851	0.84640|0.84640	2.3E-4|2.3E-4	1.17E-4|1.17E-4	ENSG00000221955|ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437|ENST00000479826	D;D;D;D|T	0.99466|0.78364	-5.95;-5.95;-5.95;-5.95|-1.17	5.18|5.18	5.18|5.18	0.71444|0.71444	Amino acid permease domain (1);|.	.|.	.|.	.|.	.|.	D|D	0.92237|0.92237	0.7538|0.7538	H|H	0.95850|0.95850	3.73|3.73	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94319|0.94319	0.7552|0.7552	9|6	0.87932|.	D|.	0|.	.|.	18.8906|18.8906	0.92399|0.92399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	133;104|.	A0AV02-2;A0AV02|.	.;S12A8_HUMAN|.	S|Q	104;133;104;72|63	ENSP00000377112:G104S;ENSP00000404243:G133S;ENSP00000418783:G104S;ENSP00000418636:G72S|ENSP00000420197:R63Q	ENSP00000377112:G104S|.	G|R	-|-	1|2	0|0	SLC12A8|SLC12A8	126388851|126388851	1.000000|1.000000	0.71417|0.71417	0.704000|0.704000	0.30370|0.30370	0.632000|0.632000	0.37999|0.37999	7.266000|7.266000	0.78452|0.78452	2.708000|2.708000	0.92522|0.92522	0.643000|0.643000	0.83706|0.83706	GGT|CGG		0.647	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4		NM_024628	
SLC35E2B	728661	broad.mit.edu	37	1	1597429	1597429	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr1:1597429G>A	ENST00000378662.1	-	10	1770	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	SLC35E2B_ENST00000234800.6_Missense_Mutation_p.S337F			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	337						integral component of membrane (GO:0016021)		p.S337F(2)		kidney(1)|lung(1)	2						GAGCCAGATGGACAAGGCATG	0.627																																																	2	Substitution - Missense(2)	kidney(2)											40.0	34.0	36.0					1																	1597429		692	1591	2283	SO:0001583	missense	728661				CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"""Solute carriers"""	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.1010C>T	1.37:g.1597429G>A	ENSP00000367931:p.Ser337Phe	Somatic		WXS	Illumina GAIIx	Phase_I	B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Missense_Mutation	SNP	ENST00000378662.1	37	CCDS44041.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.175716	0.78564	.	.	ENSG00000189339	ENST00000378662;ENST00000234800	T;T	0.63417	-0.04;-0.04	5.44	5.44	0.79542	Domain of unknown function DUF250 (1);	0.000000	0.64402	D	0.000004	T	0.75693	0.3884	L	0.60455	1.87	0.58432	D	0.999999	D	0.65815	0.995	D	0.63877	0.919	T	0.77787	-0.2457	10	0.87932	D	0	-46.0601	18.2366	0.89951	0.0:0.0:1.0:0.0	.	337	P0CK96	S352B_HUMAN	F	337	ENSP00000367931:S337F;ENSP00000234800:S337F	ENSP00000234800:S337F	S	-	2	0	SLC35E2B	1587292	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.741000	0.84997	2.555000	0.86185	0.484000	0.47621	TCC		0.627	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171589.1			
TMEM17	200728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	62728554	62728554	+	Silent	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr2:62728554G>T	ENST00000335390.5	-	4	598	c.387C>A	c.(385-387)ctC>ctA	p.L129L		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	129					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.L129L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			CTTCATTAAAGAGCAAGAAAA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	93.0	91.0					2																	62728554		2203	4300	6503	SO:0001819	synonymous_variant	200728				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.387C>A	2.37:g.62728554G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53QP7|Q53R98	Silent	SNP	ENST00000335390.5	37	CCDS1871.1																																																																																				0.378	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3		NM_198276	
TNRC18	84629	broad.mit.edu;hgsc.bcm.edu	37	7	5348898	5348898	+	Silent	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr7:5348898G>A	ENST00000430969.1	-	28	8838	c.8490C>T	c.(8488-8490)gcC>gcT	p.A2830A	TNRC18_ENST00000399537.4_Silent_p.A2830A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2830	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)	p.A2830A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGGGCGGCCGGCAGAGAGGA	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											40.0	44.0	43.0					7																	5348898		2021	4180	6201	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8490C>T	7.37:g.5348898G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.637	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
TTN	7273	hgsc.bcm.edu	37	2	179611843	179611875	+	Intron	DEL	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	-	rs61233923|rs72648910|rs141105907|rs565824755|rs557767596|rs397517814	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr2:179611843_179611875delTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_In_Frame_Del_p.5084_5095YSTPPGETLERY>Y|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T5086A(1)|p.P5087T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTGTGGAGTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAATATCTCTCTA	0.545																																																	2	Substitution - Missense(2)	ovary(1)|breast(1)							,,,,	434,3826		31,372,1727					,,,,	-11.0	0.0			71	139,8111		1,137,3987	no	intron,intron,coding,intron,intron	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	,,,,	32,509,5714	A1A1,A1R,RR		1.6848,10.1878,4.5803	,,,,	,,,,		573,11937				SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5195TTCCACACCCCCAGGAGAGACTCTGGAGAGATA>-	2.37:g.179611843_179611875delTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.545	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UNC45B	146862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33513509	33513509	+	Silent	SNP	A	A	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:33513509A>G	ENST00000268876.5	+	20	2824	c.2727A>G	c.(2725-2727)gaA>gaG	p.E909E	UNC45B_ENST00000394570.2_Silent_p.E907E|UNC45B_ENST00000591048.1_Silent_p.E828E|UNC45B_ENST00000378449.1_Silent_p.E828E|UNC45B_ENST00000433649.1_Silent_p.E907E|RP11-799D4.2_ENST00000590144.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	909					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E909E(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGAAGGCAGAAGTGGTTCAGA	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											146.0	118.0	128.0					17																	33513509		2203	4300	6503	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2727A>G	17.37:g.33513509A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.537	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2		NM_173167	
USP28	57646	hgsc.bcm.edu;ucsc.edu	37	11	113694390	113694391	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr11:113694390_113694391delTT	ENST00000003302.4	-	12	1287_1288	c.1219_1220delAA	c.(1219-1221)aatfs	p.N407fs	RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Frame_Shift_Del_p.N282fs|USP28_ENST00000544967.1_Frame_Shift_Del_p.N115fs|USP28_ENST00000260188.5_Frame_Shift_Del_p.N407fs|USP28_ENST00000537706.1_Frame_Shift_Del_p.N407fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	407	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTCTCTCTTATTTCGAATAAGC	0.317																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0																																										SO:0001589	frameshift_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1219_1220delAA	11.37:g.113694390_113694391delTT	ENSP00000003302:p.Asn407fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJC0|B0YJC1|Q9P213	Frame_Shift_Del	DEL	ENST00000003302.4	37	CCDS31680.1																																																																																				0.317	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			
VCX3B	425054	hgsc.bcm.edu	37	X	8434287	8434316	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	rs377669206|rs369681806|rs374799202		TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENST00000381032.1	+	3	911_940	c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	c.(604-633)gaaccactgagtcaggagagcgagatggaadel	p.EPLSQESEME202del	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_In_Frame_Del_p.EPLSQESEME172del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESEME170del|VCX3B_ENST00000440654.2_In_Frame_Del_p.EPLSQESEME152del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	202	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.M180V(2)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGA	0.565																																																	2	Substitution - Missense(2)	prostate(1)|skin(1)																																								SO:0001651	inframe_deletion	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	X.37:g.8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENSP00000370420:p.Glu202_Glu211del	Somatic		WXS	Illumina HiSeq	Phase_I	C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	CCDS48077.2																																																																																				0.565	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188254	10188254	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:10188254A>C	ENST00000256474.2	+	2	1237	c.397A>C	c.(397-399)Act>Cct	p.T133P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	133	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T133fs*26(1)|p.T133fs*25(1)|p.N131fs*10(1)|p.T133P(1)|p.N131*(1)|p.T133S(1)|p.Q132_T133insINQ(1)|p.N131fs*7(1)|p.T133fs*2(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGTTAACCAAACTGAATTATT	0.443		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	9	Deletion - Frameshift(5)|Substitution - Missense(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	kidney(9)	GRCh37	CD983002	VHL	D							209.0	194.0	199.0					3																	10188254		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.397A>C	3.37:g.10188254A>C	ENSP00000256474:p.Thr133Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533320	0.64972	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99815	-6.9	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.104234	0.64402	D	0.000006	D	0.99462	0.9809	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	D	0.97976	1.0346	10	0.39692	T	0.17	-9.3027	13.0886	0.59154	1.0:0.0:0.0:0.0	.	133	P40337	VHL_HUMAN	P	133;51	ENSP00000256474:T133P	ENSP00000256474:T133P	T	+	1	0	VHL	10163254	0.752000	0.28338	0.671000	0.29857	0.791000	0.44710	3.195000	0.51013	2.047000	0.60756	0.460000	0.39030	ACT		0.443	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZFHX4	79776	broad.mit.edu	37	8	77768349	77768349	+	Silent	SNP	T	T	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr8:77768349T>C	ENST00000521891.2	+	10	9640	c.9192T>C	c.(9190-9192)ctT>ctC	p.L3064L	ZFHX4_ENST00000050961.6_Silent_p.L3019L|ZFHX4_ENST00000455469.2_Silent_p.L3019L|ZFHX4_ENST00000518282.1_Silent_p.L3038L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3019	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L3048L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAAGAACTTGATCGTATAA	0.537										HNSCC(33;0.089)																																							1	Substitution - coding silent(1)	kidney(1)											110.0	111.0	111.0					8																	77768349		2040	4193	6233	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9192T>C	8.37:g.77768349T>C		Somatic		WXS	Illumina GAIIx	Phase_I	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
ZNF280D	54816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56959007	56959007	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr15:56959007G>A	ENST00000267807.7	-	15	1939	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	ZNF280D_ENST00000559237.1_Missense_Mutation_p.P562S|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P562S|ZNF280D_ENST00000396245.1_Missense_Mutation_p.P279S	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	575					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.P575S(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTTGTATTAGGTTTACTTGCG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											140.0	145.0	143.0					15																	56959007		2192	4292	6484	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1723C>T	15.37:g.56959007G>A	ENSP00000267807:p.Pro575Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614969	0.14129	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03212	4.01;4.49	3.19	0.142	0.14816	.	.	.	.	.	T	0.01730	0.0055	N	0.11000	0.08	0.22866	N	0.998632	B;B	0.28378	0.209;0.209	B;B	0.20577	0.03;0.03	T	0.47749	-0.9093	9	0.27082	T	0.32	-1.1293	2.6727	0.05071	0.0962:0.1577:0.4232:0.3229	.	638;575	B4DHL1;Q6N043	.;Z280D_HUMAN	S	575;562;279	ENSP00000267807:P575S;ENSP00000379545:P279S	ENSP00000267807:P575S	P	-	1	0	ZNF280D	54746299	0.998000	0.40836	0.994000	0.49952	0.954000	0.61252	0.298000	0.19120	0.044000	0.15775	-0.218000	0.12543	CCT		0.323	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2		XM_370867	
ZNF33B	7582	broad.mit.edu;hgsc.bcm.edu	37	10	43088522	43088522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr10:43088522G>A	ENST00000359467.3	-	5	1990	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	626					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)	p.Q626*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CTCTGATGCTGAGTGAGTTGT	0.388																																					Melanoma(137;1247 1767 16772 25727 43810)												1	Substitution - Nonsense(1)	kidney(1)											97.0	98.0	98.0					10																	43088522		2203	4300	6503	SO:0001587	stop_gained	7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1876C>T	10.37:g.43088522G>A	ENSP00000352444:p.Gln626*	Somatic		WXS	Illumina HiSeq	Phase_I	Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.975690	0.97162	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.58	2.58	0.30949	.	0.000000	0.32328	N	0.006246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	6.8528	0.24024	0.0:0.0:0.7236:0.2764	.	.	.	.	X	626;592	.	ENSP00000352444:Q626X	Q	-	1	0	ZNF33B	42408528	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.338000	0.07842	1.773000	0.52216	0.409000	0.27619	CAG		0.388	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_006955	
ZNF595	152687	hgsc.bcm.edu	37	4	85995	85996	+	3'UTR	INS	-	-	A	rs61336127|rs397762835		TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr4:85995_85996insA	ENST00000339368.6	+	0	804_805							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGAAACCCTACAATGTGAAAAA	0.401													AAA|AA|AAA|deletion	5008	1.0	1.0	1.0	5008	,	,		15241	1.0		1.0	False		,,,				2504	1.0																0										3875,15		1931,13,1						0.1	0.1		dbSNP_134	13	7943,47		3955,33,7	no	frameshift	ZNF595	NM_182524.2		5886,46,8	A1A1,A1R,RR		0.5882,0.3856,0.5219				11818,62				SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*802->A	4.37:g.85997_85997dupA		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000339368.6	37																																																																																					0.401	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2		NM_182524	
ZNF717	100131827	broad.mit.edu	37	3	75788376	75788377	+	Frame_Shift_Ins	INS	-	-	TT	rs76943640	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:75788376_75788377insTT	ENST00000478296.1	-	4	523_524	c.247_248insAA	c.(247-249)acafs	p.T83fs	ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T126fs|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T133fs			Q9BY31	ZN717_HUMAN	zinc finger protein 717	126	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CAAATTAAATGTTTTTCCTAAT	0.347																																																	0										25,549		9,7,271						-1.1	0.0		dbSNP_130	1	123,1193		42,39,577	no	frameshift	ZNF717	NM_001128223.1		51,46,848	A1A1,A1R,RR		9.3465,4.3554,7.8307				148,1742				SO:0001589	frameshift_variant	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.246_247dupAA	3.37:g.75788379_75788380dupTT	ENSP00000419377:p.Thr83fs	Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Ins	INS	ENST00000478296.1	37																																																																																					0.347	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2		NM_001128223	
ZNF790	388536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37314189	37314189	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:37314189G>T	ENST00000356725.4	-	4	347	c.227C>A	c.(226-228)cCa>cAa	p.P76Q	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.P76Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACTCACCTGGGCAAGGTCC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											72.0	57.0	62.0					19																	37314189		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.227C>A	19.37:g.37314189G>T	ENSP00000349161:p.Pro76Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198239	0.38806	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.06768	3.26;6.03;5.71	3.75	1.53	0.23141	Krueppel-associated box (1);	.	.	.	.	T	0.11537	0.0281	M	0.71581	2.175	0.19300	N	0.999976	B	0.34015	0.435	B	0.36289	0.221	T	0.17684	-1.0361	9	0.56958	D	0.05	.	6.6887	0.23160	0.205:0.0:0.795:0.0	.	76	Q6PG37	ZN790_HUMAN	Q	76	ENSP00000349161:P76Q;ENSP00000435944:P76Q;ENSP00000433389:P76Q	ENSP00000349161:P76Q	P	-	2	0	ZNF790	42006029	0.928000	0.31464	0.297000	0.24988	0.633000	0.38033	1.321000	0.33678	0.368000	0.24481	0.585000	0.79938	CCA		0.493	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2		NM_206894	
ZNF814	730051	broad.mit.edu	37	19	58386503	58386503	+	Silent	SNP	A	A	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:58386503A>C	ENST00000435989.2	-	3	489	c.255T>G	c.(253-255)ggT>ggG	p.G85G	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G85G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TGGGAGACACACCTGCCATAG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.255T>G	19.37:g.58386503A>C		Somatic		WXS	Illumina GAIIx	Phase_I	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																				0.502	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708	
