#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
ANPEP	290	hgsc.bcm.edu	37	15	90342657	90342657	+	Splice_Site	SNP	C	C	A	rs184252270	byFrequency	TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr15:90342657C>A	ENST00000300060.6	-	13	2266	c.1953G>T	c.(1951-1953)tcG>tcT	p.S651S	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	651	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGACACTCACCGAGTGGTCTC	0.597																																					NSCLC(30;827 977 2459 19669 26125)												0													121.0	113.0	116.0					15																	90342657		2200	4299	6499	SO:0001630	splice_region_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1953+1G>T	15.37:g.90342657C>A		Somatic		WXS	SOLID	Phase_I	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																				0.597	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			Silent
BRAT1	221927	hgsc.bcm.edu	37	7	2579268	2579268	+	Missense_Mutation	SNP	G	G	A	rs147745609		TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr7:2579268G>A	ENST00000340611.4	-	12	1763	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	503					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGCAGCACAGGGAACAGCTCT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19131	0.0		0.0	False		,,,				2504	0.001																0								G	SER/PRO	1,4397		0,1,2198	39.0	35.0	36.0		1507	3.8	0.1	7	dbSNP_134	36	7,8583		0,7,4288	yes	missense	BRAT1	NM_152743.3	74	0,8,6486	AA,AG,GG		0.0815,0.0227,0.0616	benign	503/822	2579268	8,12980	2199	4295	6494	SO:0001583	missense	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1507C>T	7.37:g.2579268G>A	ENSP00000339637:p.Pro503Ser	Somatic		WXS	SOLID	Phase_I	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	4.630	0.117028	0.08881	2.27E-4	8.15E-4	ENSG00000106009	ENST00000340611	T	0.71817	-0.6	5.59	3.77	0.43336	Armadillo-like helical (1);Armadillo-type fold (1);	0.423407	0.26851	N	0.022169	T	0.58963	0.2159	L	0.32530	0.975	0.34313	D	0.685727	B	0.15930	0.015	B	0.20184	0.028	T	0.60782	-0.7195	10	0.33940	T	0.23	-11.3833	11.5939	0.50962	0.0677:0.3456:0.5866:0.0	.	503	Q6PJG6	BRAT1_HUMAN	S	503	ENSP00000339637:P503S	ENSP00000339637:P503S	P	-	1	0	BRAT1	2545794	0.998000	0.40836	0.077000	0.20336	0.024000	0.10985	1.179000	0.31993	0.696000	0.31696	0.561000	0.74099	CCT		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2		NM_152743	
CCDC17	149483	hgsc.bcm.edu	37	1	46086449	46086449	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr1:46086449C>G	ENST00000528266.1	-	12	1803	c.1656G>C	c.(1654-1656)caG>caC	p.Q552H	CCDC17_ENST00000343901.2_Missense_Mutation_p.Q520H|CCDC17_ENST00000421127.2_Missense_Mutation_p.Q543H|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	552										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CTGCCAGTGTCTGTACAGCTG	0.542																																																	0													102.0	81.0	88.0					1																	46086449		2203	4300	6503	SO:0001583	missense	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1656G>C	1.37:g.46086449C>G	ENSP00000432172:p.Gln552His	Somatic		WXS	SOLID	Phase_I	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050168	0.75846	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.42131	0.98;0.98;0.98	5.92	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.63438	0.2511	M	0.69823	2.125	0.39047	D	0.96024	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.69771	-0.5055	10	0.72032	D	0.01	-27.0807	14.0439	0.64693	0.0:0.9266:0.0:0.0734	.	552;543;520	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	H	543;520;552	ENSP00000389415:Q543H;ENSP00000341451:Q520H;ENSP00000432172:Q552H	ENSP00000341451:Q520H	Q	-	3	2	CCDC17	45859036	0.959000	0.32827	0.995000	0.50966	0.882000	0.50991	1.910000	0.39927	1.509000	0.48786	0.655000	0.94253	CAG		0.542	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1		NM_152500	
DNER	92737	hgsc.bcm.edu	37	2	230231641	230231641	+	Missense_Mutation	SNP	G	G	T	rs549129843		TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr2:230231641G>T	ENST00000341772.4	-	12	2184	c.2050C>A	c.(2050-2052)Cgc>Agc	p.R684S		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	684					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCGATGCTGCGGCAGTTGTAG	0.562																																																	0													65.0	60.0	62.0					2																	230231641		2203	4300	6503	SO:0001583	missense	92737			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2050C>A	2.37:g.230231641G>T	ENSP00000345229:p.Arg684Ser	Somatic		WXS	SOLID	Phase_I	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117717	0.77323	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86230	-2.09	5.93	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.88269	0.6391	N	0.24115	0.695	0.53005	D	0.999968	D	0.89917	1.0	D	0.81914	0.995	D	0.88749	0.3249	10	0.62326	D	0.03	.	13.81	0.63256	0.0:0.0:0.7401:0.2599	.	684	Q8NFT8	DNER_HUMAN	S	684;402	ENSP00000345229:R684S	ENSP00000345229:R684S	R	-	1	0	DNER	229939885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.690000	0.54713	2.817000	0.96982	0.551000	0.68910	CGC		0.562	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		NM_139072	
DUOX1	53905	hgsc.bcm.edu	37	15	45436386	45436386	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr15:45436386C>T	ENST00000321429.4	+	18	2496	c.2089C>T	c.(2089-2091)Cgt>Tgt	p.R697C	DUOX1_ENST00000389037.3_Missense_Mutation_p.R697C|DUOX1_ENST00000561166.1_Missense_Mutation_p.R343C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	697					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.R697G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GTCCAGCAACCGTGGACGCCG	0.622																																																	1	Substitution - Missense(1)	ovary(1)											89.0	73.0	78.0					15																	45436386		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2089C>T	15.37:g.45436386C>T	ENSP00000317997:p.Arg697Cys	Somatic		WXS	SOLID	Phase_I	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710573	0.48517	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86366	-2.11;-2.11	4.78	4.78	0.61160	.	0.631546	0.17728	N	0.163990	D	0.85600	0.5734	L	0.58101	1.795	0.58432	D	0.999996	B	0.15930	0.015	B	0.13407	0.009	T	0.83048	-0.0154	10	0.66056	D	0.02	-0.7754	15.688	0.77426	0.0:1.0:0.0:0.0	.	697	Q9NRD9	DUOX1_HUMAN	C	697	ENSP00000317997:R697C;ENSP00000373689:R697C	ENSP00000317997:R697C	R	+	1	0	DUOX1	43223678	0.866000	0.29940	0.992000	0.48379	0.678000	0.39670	1.656000	0.37355	2.631000	0.89168	0.655000	0.94253	CGT		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434	
FAT3	120114	hgsc.bcm.edu	37	11	92600266	92600266	+	Silent	SNP	G	G	A	rs75649640	byFrequency	TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr11:92600266G>A	ENST00000298047.6	+	21	12035	c.12018G>A	c.(12016-12018)gcG>gcA	p.A4006A	FAT3_ENST00000409404.2_Silent_p.A4006A|FAT3_ENST00000533797.1_Silent_p.A341A|FAT3_ENST00000525166.1_Silent_p.A3856A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4006	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGCTTCGCGGAGGTGGTGG	0.667										TCGA Ovarian(4;0.039)			G|||	329	0.0656949	0.0492	0.0418	5008	,	,		17013	0.0139		0.0716	False		,,,				2504	0.1524																0								G		175,3883		6,163,1860	10.0	12.0	11.0		12018	-6.6	0.9	11	dbSNP_132	11	630,7706		26,578,3564	no	coding-synonymous	FAT3	NM_001008781.2		32,741,5424	AA,AG,GG		7.5576,4.3125,6.4951		4006/4558	92600266	805,11589	2029	4168	6197	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12018G>A	11.37:g.92600266G>A		Somatic		WXS	SOLID	Phase_I	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.667	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
INO80	54617	hgsc.bcm.edu;ucsc.edu	37	15	41313241	41313241	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr15:41313241A>T	ENST00000361937.3	-	26	3555	c.3131T>A	c.(3130-3132)cTg>cAg	p.L1044Q	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.L1044Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1044	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTTGGCTGCCAGACTCCCTCC	0.512																																																	0													94.0	85.0	88.0					15																	41313241		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3131T>A	15.37:g.41313241A>T	ENSP00000355205:p.Leu1044Gln	Somatic		WXS	SOLID	Phase_I	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207735	0.39003	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.14	5.14	0.70334	.	0.427308	0.24260	N	0.040091	T	0.76026	0.3930	N	0.05124	-0.11	0.40658	D	0.982104	P	0.39964	0.697	B	0.32864	0.154	T	0.77101	-0.2712	10	0.27785	T	0.31	.	9.5935	0.39561	0.922:0.0:0.078:0.0	.	1044	Q9ULG1	INO80_HUMAN	Q	1044	ENSP00000355205:L1044Q;ENSP00000384686:L1044Q	ENSP00000355205:L1044Q	L	-	2	0	INO80	39100533	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.736000	0.55052	2.150000	0.67090	0.533000	0.62120	CTG		0.512	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553	
MAMLD1	10046	hgsc.bcm.edu;ucsc.edu	37	X	149613802	149613802	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chrX:149613802G>A	ENST00000370401.2	+	2	330	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	MAMLD1_ENST00000432680.2_Missense_Mutation_p.R7Q|MAMLD1_ENST00000426613.2_Missense_Mutation_p.R7Q|MAMLD1_ENST00000262858.5_Missense_Mutation_p.R7Q|MAMLD1_ENST00000468306.1_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	7					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAAAAGTCGGCTTGTAATC	0.498																																																	0													75.0	72.0	73.0					X																	149613802		1876	4107	5983	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.20G>A	X.37:g.149613802G>A	ENSP00000359428:p.Arg7Gln	Somatic		WXS	SOLID	Phase_I	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001150	0.74818	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.71103	-0.3;-0.54;-0.3;-0.11	5.31	3.03	0.35002	.	.	.	.	.	T	0.74458	0.3719	L	0.51422	1.61	0.58432	D	0.999996	P;P;D	0.71674	0.887;0.933;0.998	B;B;D	0.75484	0.219;0.316;0.986	T	0.75107	-0.3434	9	0.87932	D	0	-25.7446	3.127	0.06411	0.1758:0.0:0.5735:0.2507	.	7;7;7	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	Q	7	ENSP00000359428:R7Q;ENSP00000414517:R7Q;ENSP00000262858:R7Q;ENSP00000397438:R7Q	ENSP00000262858:R7Q	R	+	2	0	MAMLD1	149364460	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.337000	0.43947	2.199000	0.70637	0.513000	0.50165	CGG		0.498	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2		NM_005491	
GRM8	2918	hgsc.bcm.edu	37	7	126698160	126698160	+	Intron	SNP	A	A	G			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr7:126698160A>G	ENST00000339582.2	-	3	1536				GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Intron|GRM8_ENST00000444921.2_Intron|MIR592_ENST00000384959.1_RNA|GRM8_ENST00000358373.3_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTCTTACGTCATGATGTTGCG	0.378										HNSCC(24;0.065)																																							0													84.0	72.0	76.0					7																	126698160		1568	3582	5150	SO:0001627	intron_variant	693177				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.727+48389T>C	7.37:g.126698160A>G		Somatic		WXS	SOLID	Phase_I	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	RNA	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			
MMP2	4313	hgsc.bcm.edu	37	16	55530885	55530885	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr16:55530885T>C	ENST00000219070.4	+	10	2029	c.1520T>C	c.(1519-1521)cTg>cCg	p.L507P	MMP2_ENST00000543485.1_Missense_Mutation_p.L431P|MMP2_ENST00000570308.1_Missense_Mutation_p.L431P|MMP2_ENST00000437642.2_Missense_Mutation_p.L457P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	507	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ATGGGGCCCCTGCTGGTGGCC	0.592																																																	0													67.0	63.0	65.0					16																	55530885		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1520T>C	16.37:g.55530885T>C	ENSP00000219070:p.Leu507Pro	Somatic		WXS	SOLID	Phase_I	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205024	0.79127	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.02446	4.29;4.29;4.29	6.07	6.07	0.98685	Hemopexin/matrixin (2);	0.171378	0.50627	D	0.000117	T	0.09642	0.0237	L	0.49455	1.56	0.80722	D	1	D;D	0.61697	0.989;0.99	P;P	0.58873	0.831;0.847	T	0.19844	-1.0293	10	0.33141	T	0.24	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	457;507	E9PE45;P08253	.;MMP2_HUMAN	P	507;431;457	ENSP00000219070:L507P;ENSP00000444143:L431P;ENSP00000394237:L457P	ENSP00000219070:L507P	L	+	2	0	MMP2	54088386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.805000	0.62561	2.326000	0.78906	0.533000	0.62120	CTG		0.592	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			
NFKBIL1	4795	hgsc.bcm.edu	37	6	31525512	31525512	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr6:31525512T>G	ENST00000376148.4	+	3	556	c.442T>G	c.(442-444)Tgg>Ggg	p.W148G	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.W148G	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	148					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GGGACCCCCCTGGGATTCTGC	0.572																																																	0													45.0	50.0	48.0					6																	31525512		2203	4300	6503	SO:0001583	missense	4795			X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.442T>G	6.37:g.31525512T>G	ENSP00000365318:p.Trp148Gly	Somatic		WXS	SOLID	Phase_I	A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	37	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096971	0.37048	.	.	ENSG00000204498	ENST00000376146;ENST00000542852;ENST00000376148;ENST00000376145	T;T;T	0.29917	1.97;1.55;1.97	6.07	1.89	0.25635	.	0.544012	0.20456	N	0.092000	T	0.04092	0.0114	N	0.08118	0	0.32855	D	0.50719	B;B;B	0.23650	0.089;0.089;0.089	B;B;B	0.18263	0.021;0.021;0.021	T	0.30909	-0.9962	10	0.23302	T	0.38	-10.9008	3.715	0.08434	0.0:0.2247:0.1873:0.588	.	125;148;148	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	G	125;125;148;148	ENSP00000365316:W125G;ENSP00000365318:W148G;ENSP00000365315:W148G	ENSP00000365315:W148G	W	+	1	0	NFKBIL1	31633491	0.987000	0.35691	1.000000	0.80357	0.995000	0.86356	0.638000	0.24674	1.110000	0.41699	0.533000	0.62120	TGG		0.572	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3		NM_005007	
NTN5	126147	hgsc.bcm.edu;ucsc.edu	37	19	49166772	49166772	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr19:49166772C>T	ENST00000270235.4	-	6	1148	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	351	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TGGTGTCCGACATATTGCAGT	0.592																																																	0													211.0	170.0	184.0					19																	49166772		2203	4300	6503	SO:0001583	missense	126147				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1053G>A	19.37:g.49166772C>T	ENSP00000270235:p.Met351Ile	Somatic		WXS	SOLID	Phase_I	Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	8.193	0.796407	0.16327	.	.	ENSG00000142233	ENST00000270235	T	0.29142	1.58	5.51	-2.11	0.07187	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	1.392810	0.04631	N	0.403674	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23048	-1.0199	10	0.22109	T	0.4	.	6.9651	0.24619	0.2109:0.3636:0.4255:0.0	.	351	Q8WTR8	NET5_HUMAN	I	351	ENSP00000270235:M351I	ENSP00000270235:M351I	M	-	3	0	NTN5	53858584	0.003000	0.15002	0.001000	0.08648	0.993000	0.82548	-0.242000	0.08928	-0.349000	0.08274	-0.165000	0.13383	ATG		0.592	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1		NM_145807	
OR6N1	128372	hgsc.bcm.edu;ucsc.edu	37	1	158735712	158735712	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr1:158735712C>A	ENST00000335094.2	-	1	780	c.761G>T	c.(760-762)aGc>aTc	p.S254I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGAAAGGATGCTCCCATAGAA	0.542																																																	0													178.0	167.0	171.0					1																	158735712		2203	4300	6503	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.761G>T	1.37:g.158735712C>A	ENSP00000335535:p.Ser254Ile	Somatic		WXS	SOLID	Phase_I	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750127	0.30955	.	.	ENSG00000197403	ENST00000335094	T	0.00179	8.61	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.00241	0.0007	M	0.67953	2.075	0.09310	N	1	D	0.65815	0.995	D	0.68621	0.959	T	0.41662	-0.9496	10	0.87932	D	0	-17.7678	12.5186	0.56046	0.0:0.8314:0.1686:0.0	.	254	Q8NGY5	OR6N1_HUMAN	I	254	ENSP00000335535:S254I	ENSP00000335535:S254I	S	-	2	0	OR6N1	157002336	0.000000	0.05858	1.000000	0.80357	0.345000	0.29048	0.607000	0.24209	2.432000	0.82394	0.655000	0.94253	AGC		0.542	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1		NM_001005185	
PAPSS2	9060	hgsc.bcm.edu	37	10	89503130	89503130	+	Splice_Site	SNP	A	A	G			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr10:89503130A>G	ENST00000361175.4	+	10	1577	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	PAPSS2_ENST00000456849.1_Splice_Site_p.D408G|PAPSS2_ENST00000427144.2_Splice_Site_p.D407G	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	403					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCTCTCCCAGATGCGGTGTTT	0.502																																																	0													162.0	149.0	153.0					10																	89503130		2203	4300	6503	SO:0001630	splice_region_variant	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1208-1A>G	10.37:g.89503130A>G		Somatic		WXS	SOLID	Phase_I	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831641	0.91036	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.31247	1.5;1.5;1.5	5.46	5.46	0.80206	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.043926	0.85682	D	0.000000	T	0.63965	0.2556	H	0.96833	3.89	0.80722	D	1	B;P	0.49307	0.395;0.922	P;P	0.54401	0.597;0.751	T	0.77456	-0.2581	9	.	.	.	.	15.7119	0.77635	1.0:0.0:0.0:0.0	.	403;408	O95340;O95340-2	PAPS2_HUMAN;.	G	403;408;407;407	ENSP00000354436:D403G;ENSP00000406157:D408G;ENSP00000397123:D407G	.	D	+	2	0	PAPSS2	89493110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.755000	0.91646	2.291000	0.77112	0.533000	0.62120	GAT		0.502	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			Missense_Mutation
GRIN3A	116443	hgsc.bcm.edu	37	9	104356948	104356948	+	Intron	SNP	C	C	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr9:104356948C>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.G89C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G89C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCCTCGTCGCCCTTGACGCTG	0.537																																																	1	Substitution - Missense(1)	ovary(1)											125.0	119.0	121.0					9																	104356948		2203	4300	6503	SO:0001627	intron_variant	5535				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15306G>T	9.37:g.104356948C>A		Somatic		WXS	SOLID	Phase_I	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144706	0.37825	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.34275	1.37	3.97	3.08	0.35506	EF-hand-like domain (1);	0.000000	0.41712	D	0.000829	T	0.50274	0.1606	M	0.89353	3.025	0.46954	D	0.999267	D	0.55605	0.972	P	0.48704	0.587	T	0.61272	-0.7096	10	0.87932	D	0	-17.6975	10.1727	0.42920	0.0:0.8999:0.0:0.1001	.	86	Q96LZ3	CANB2_HUMAN	C	89	ENSP00000363939:G89C	ENSP00000363939:G89C	G	-	1	0	PPP3R2	103396769	0.995000	0.38212	0.064000	0.19789	0.118000	0.20060	3.608000	0.54109	1.264000	0.44198	-0.244000	0.11960	GGC		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	Somatic		WXS	SOLID	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
RNF144A	9781	hgsc.bcm.edu	37	2	7160712	7160712	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr2:7160712C>A	ENST00000320892.6	+	6	852	c.410C>A	c.(409-411)gCc>gAc	p.A137D	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	137					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A137V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGTGCAAAGCCTGCCGTATG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											76.0	75.0	75.0					2																	7160712		2203	4300	6503	SO:0001583	missense	9781			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.410C>A	2.37:g.7160712C>A	ENSP00000321330:p.Ala137Asp	Somatic		WXS	SOLID	Phase_I	D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.871754|2.871754	0.51695|0.51695	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892;ENST00000427092|ENST00000432850	T|.	0.80566|.	-1.39|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Zinc finger, C6HC-type (2);|.	0.099263|.	0.64402|.	D|.	0.000001|.	T|T	0.63022|0.63022	0.2476|0.2476	L|L	0.50333|0.50333	1.59|1.59	0.48571|0.48571	D|D	0.999672|0.999672	P|.	0.41131|.	0.739|.	B|.	0.44044|.	0.439|.	T|T	0.59568|0.59568	-0.7430|-0.7430	10|5	0.18276|.	T|.	0.48|.	.|.	14.4|14.4	0.67037|0.67037	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	137|.	P50876|.	R144A_HUMAN|.	D|T	137|133	ENSP00000321330:A137D|.	ENSP00000321330:A137D|.	A|P	+|+	2|1	0|0	RNF144A|RNF144A	7078163|7078163	0.990000|0.990000	0.36364|0.36364	0.958000|0.958000	0.39756|0.39756	0.896000|0.896000	0.52359|0.52359	2.700000|2.700000	0.47085|0.47085	2.600000|2.600000	0.87896|0.87896	0.561000|0.561000	0.74099|0.74099	GCC|CCT		0.652	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2		NM_014746	
TECPR1	25851	hgsc.bcm.edu	37	7	97874261	97874261	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr7:97874261T>C	ENST00000447648.2	-	4	643	c.344A>G	c.(343-345)cAc>cGc	p.H115R	TECPR1_ENST00000379795.3_Missense_Mutation_p.H115R|TECPR1_ENST00000542604.1_Missense_Mutation_p.H36R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	115					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCACTCCCAGTGCGGCGAGGG	0.617																																																	0													42.0	53.0	50.0					7																	97874261		2169	4267	6436	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.344A>G	7.37:g.97874261T>C	ENSP00000404923:p.His115Arg	Somatic		WXS	SOLID	Phase_I	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603306	0.46423	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	D;D;T	0.93488	-3.23;-3.23;1.49	5.26	5.26	0.73747	Ferlin/Peroxisome membrane (1);	0.139204	0.64402	D	0.000003	D	0.88793	0.6533	L	0.32530	0.975	0.42372	D	0.992458	B;B	0.22909	0.077;0.011	B;B	0.23419	0.046;0.011	D	0.85192	0.1010	10	0.21014	T	0.42	-24.3542	14.3487	0.66685	0.0:0.0:0.0:1.0	.	36;115	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	R	115;115;36	ENSP00000404923:H115R;ENSP00000369121:H115R;ENSP00000441121:H36R	ENSP00000369121:H115R	H	-	2	0	TECPR1	97712197	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.778000	0.55371	2.001000	0.58596	0.454000	0.30748	CAC		0.617	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1		NM_015395	
TIAM2	26230	hgsc.bcm.edu	37	6	155451458	155451458	+	Silent	SNP	T	T	C			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr6:155451458T>C	ENST00000461783.3	+	6	2374	c.1101T>C	c.(1099-1101)gtT>gtC	p.V367V	TIAM2_ENST00000360366.4_Silent_p.V367V|TIAM2_ENST00000318981.5_Silent_p.V367V|TIAM2_ENST00000529824.2_Silent_p.V367V|TIAM2_ENST00000456144.1_Silent_p.V367V|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	367					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGCCTTTGTTGAGGATACTG	0.547																																																	0													72.0	70.0	71.0					6																	155451458		2203	4300	6503	SO:0001819	synonymous_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1101T>C	6.37:g.155451458T>C		Somatic		WXS	SOLID	Phase_I	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454	
TRIM58	25893	hgsc.bcm.edu	37	1	248039262	248039262	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr1:248039262G>T	ENST00000366481.3	+	6	980	c.932G>T	c.(931-933)cGc>cTc	p.R311L	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCGACCTGCGCAGTGTGCAG	0.572																																																	0													87.0	81.0	83.0					1																	248039262		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.932G>T	1.37:g.248039262G>T	ENSP00000355437:p.Arg311Leu	Somatic		WXS	SOLID	Phase_I	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130000	0.37630	.	.	ENSG00000162722	ENST00000366481	T	0.13196	2.61	3.82	1.96	0.26148	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.256461	0.28187	N	0.016276	T	0.17280	0.0415	L	0.43923	1.385	0.19300	N	0.999978	P	0.47841	0.901	P	0.53401	0.725	T	0.03587	-1.1022	10	0.54805	T	0.06	.	5.8484	0.18679	0.3259:0.0:0.6741:0.0	.	311	Q8NG06	TRI58_HUMAN	L	311	ENSP00000355437:R311L	ENSP00000355437:R311L	R	+	2	0	TRIM58	246105885	0.030000	0.19436	0.296000	0.24974	0.367000	0.29736	1.994000	0.40757	0.615000	0.30124	0.555000	0.69702	CGC		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1		NM_015431	
ZDBF2	57683	hgsc.bcm.edu;ucsc.edu	37	2	207169576	207169576	+	Silent	SNP	C	C	G	rs199768532	byFrequency	TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr2:207169576C>G	ENST00000374423.3	+	5	710	c.324C>G	c.(322-324)tcC>tcG	p.S108S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	108							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAGACCATCCGAGGTTTCAG	0.448																																																	0													80.0	77.0	78.0					2																	207169576		1946	4149	6095	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.324C>G	2.37:g.207169576C>G		Somatic		WXS	SOLID	Phase_I	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923	
