#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
NUDT13	25961	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	74879835	74879835	+	Missense_Mutation	SNP	C	C	T	rs145352986	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr10:74879835C>T	ENST00000357321.4	+	3	261	c.143C>T	c.(142-144)gCg>gTg	p.A48V	NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.A48V|NUDT13_ENST00000349051.5_Missense_Mutation_p.A48V|NUDT13_ENST00000488223.1_3'UTR	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CAAACAGGAGCGTTTTACCTC	0.448													C|||	10	0.00199681	0.0061	0.0014	5008	,	,		19729	0.0		0.001	False		,,,				2504	0.0															0								C	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	130.0	135.0	133.0		143	2.6	1.0	10	dbSNP_134	133	6,8594	5.0+/-18.6	0,6,4294	yes	missense	NUDT13	NM_015901.4	64	0,11,6492	TT,TC,CC		0.0698,0.1135,0.0846	benign	48/353	74879835	11,12995	2203	4300	6503	SO:0001583	missense	25961			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.143C>T	10.37:g.74879835C>T	ENSP00000349874:p.Ala48Val			Missense_Mutation	SNP	ENST00000357321.4	37	CCDS31220.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	14.92	2.678799	0.47886	0.001135	6.98E-4	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.28255	1.62;1.62;1.62	5.63	2.63	0.31362	NADH pyrophosphatase-like, N-terminal (1);	0.527975	0.21575	N	0.072354	T	0.15176	0.0366	L	0.44542	1.39	0.80722	D	1	B;B;B	0.30511	0.282;0.147;0.045	B;B;B	0.17433	0.018;0.012;0.007	T	0.04961	-1.0915	10	0.27082	T	0.32	.	9.4813	0.38902	0.0:0.7427:0.1204:0.1369	.	48;48;48	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	V	48	ENSP00000349874:A48V;ENSP00000335326:A48V;ENSP00000362088:A48V	ENSP00000335326:A48V	A	+	2	0	NUDT13	74549841	0.049000	0.20398	0.998000	0.56505	0.919000	0.55068	1.036000	0.30228	1.383000	0.46405	0.655000	0.94253	GCG		0.448	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		26	121	26	121
SERPINH1	871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	75282973	75282973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:75282973C>T	ENST00000524558.1	+	5	2537	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SERPINH1_ENST00000525876.1_Nonsense_Mutation_p.Q151*|SERPINH1_ENST00000533603.1_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000358171.3_Nonsense_Mutation_p.Q368*			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	368					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCCCTTTGACCAGGACATCTA	0.617																																																0													55.0	45.0	48.0					11																	75282973		2200	4293	6493	SO:0001587	stop_gained	871			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.1102C>T	11.37:g.75282973C>T	ENSP00000434412:p.Gln368*		B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Nonsense_Mutation	SNP	ENST00000524558.1	37	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	C	45	11.850672	0.99610	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000524558;ENST00000525876	.	.	.	5.27	4.29	0.51040	.	0.506980	0.20738	N	0.086592	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.9354	0.24463	0.0:0.73:0.1776:0.0924	.	.	.	.	X	368;368;347;368;151	.	ENSP00000350894:Q368X	Q	+	1	0	SERPINH1	74960621	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.355000	0.52262	2.619000	0.88677	0.561000	0.74099	CAG		0.617	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		22	65	22	65
SLCO1B1	10599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	21327629	21327629	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:21327629T>A	ENST00000256958.2	+	4	441	c.345T>A	c.(343-345)caT>caA	p.H115Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	115					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTTTGCCACATTTCTTCATGG	0.323																																																0													153.0	140.0	144.0					12																	21327629		2203	4300	6503	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.345T>A	12.37:g.21327629T>A	ENSP00000256958:p.His115Gln		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716169	0.30413	.	.	ENSG00000134538	ENST00000256958	T	0.58652	0.32	3.66	2.5	0.30297	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.78456	2.415	0.42183	D	0.991692	D	0.65815	0.995	D	0.67382	0.951	T	0.64939	-0.6289	10	0.24483	T	0.36	.	6.759	0.23530	0.0:0.1909:0.0:0.8091	.	115	Q9Y6L6	SO1B1_HUMAN	Q	115	ENSP00000256958:H115Q	ENSP00000256958:H115Q	H	+	3	2	SLCO1B1	21218896	0.990000	0.36364	1.000000	0.80357	0.754000	0.42855	0.160000	0.16462	0.581000	0.29539	0.254000	0.18369	CAT		0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		24	38	24	38
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104033987	104033987	+	Silent	SNP	G	G	A	rs200956819		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:104033987G>A	ENST00000388887.2	+	9	1197	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGATAACCCGTGTCATAGGA	0.463																																																0								G		1,4405	2.1+/-5.4	0,1,2202	170.0	155.0	160.0		993	-5.7	0.9	12		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STAB2	NM_017564.9		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		331/2552	104033987	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.993G>A	12.37:g.104033987G>A				Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.463	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			34	86	34	86
FBXW8	26259	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	117448196	117448196	+	Silent	SNP	G	G	A	rs146667375|rs371138207	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:117448196G>A	ENST00000309909.5	+	8	1390	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	FBXW8_ENST00000455858.2_Silent_p.T370T			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	436					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGACTTCACGTGTGTCAACC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20804	0.0		0.001	False		,,,				2504	0.0															0								G	,	0,4406		0,0,2203	202.0	154.0	170.0		1110,1308	-11.4	0.0	12	dbSNP_134	170	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	FBXW8	NM_012174.1,NM_153348.2	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	370/533,436/599	117448196	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1308G>A	12.37:g.117448196G>A			Q9UK95	Silent	SNP	ENST00000309909.5	37	CCDS9182.1																																																																																				0.572	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		15	160	15	160
MCTP2	55784	hgsc.bcm.edu;broad.mit.edu	37	15	94927307	94927307	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:94927307A>G	ENST00000357742.4	+	12	1639	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	MCTP2_ENST00000451018.3_Missense_Mutation_p.T547A|MCTP2_ENST00000331706.4_Missense_Mutation_p.T135A|MCTP2_ENST00000557742.1_Missense_Mutation_p.T135A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	547	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCAGACGCATACCGTCTACAA	0.433																																																0													148.0	116.0	127.0					15																	94927307		2197	4298	6495	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1639A>G	15.37:g.94927307A>G	ENSP00000350377:p.Thr547Ala		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731125	0.69189	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.70869	-0.52;-0.52;-0.52	5.95	5.95	0.96441	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.86178	2.8	0.80722	D	1	P;D;D	0.67145	0.866;0.996;0.994	D;D;D	0.91635	0.938;0.996;0.999	D	0.88106	0.2822	10	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	547;135;547	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	A	547;135;547	ENSP00000395109:T547A;ENSP00000329646:T135A;ENSP00000350377:T547A	ENSP00000329646:T135A	T	+	1	0	MCTP2	92728311	1.000000	0.71417	0.903000	0.35520	0.308000	0.27856	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	ACC		0.433	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		5	54	5	54
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	5	33	5
ACSBG2	81616	hgsc.bcm.edu;broad.mit.edu	37	19	6187326	6187326	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:6187326C>T	ENST00000586696.1	+	12	1849	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.P525S|ACSBG2_ENST00000588304.1_Missense_Mutation_p.P475S|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P338S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	525					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAAATGTGCCCCCCATTCC	0.483																																																0													137.0	122.0	127.0					19																	6187326		2203	4300	6503	SO:0001583	missense	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1573C>T	19.37:g.6187326C>T	ENSP00000465589:p.Pro525Ser		B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815944	0.32145	.	.	ENSG00000130377	ENST00000252669	T	0.08634	3.07	5.35	-10.7	0.00240	AMP-dependent synthetase/ligase (1);	1.215180	0.05909	N	0.631434	T	0.06142	0.0159	L	0.33245	0.995	0.23144	N	0.998224	B;B	0.27068	0.04;0.167	B;B	0.33690	0.1;0.168	T	0.32745	-0.9895	10	0.51188	T	0.08	-4.858	5.9333	0.19150	0.0676:0.1605:0.4325:0.3395	.	525;525	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	S	525	ENSP00000252669:P525S	ENSP00000252669:P525S	P	+	1	0	ACSBG2	6138326	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.183000	0.09712	-3.121000	0.00238	-1.710000	0.00715	CCC		0.483	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		15	180	15	180
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:42873066G>A	ENST00000251268.6	+	37	6553	c.6553G>A	c.(6553-6555)Ggg>Agg	p.G2185R	MEGF8_ENST00000334370.4_Missense_Mutation_p.G2118R|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2185	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622																																																0													87.0	91.0	89.0					19																	42873066		2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6553G>A	19.37:g.42873066G>A	ENSP00000251268:p.Gly2185Arg		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.049172	0.75846	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.44482	0.92;0.92	4.76	4.76	0.60689	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	T	0.64023	0.2561	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65140	0.898;0.932	T	0.69826	-0.5040	10	0.87932	D	0	-16.5859	12.7827	0.57487	0.0:0.1653:0.8347:0.0	.	2185;2118	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	R	2118;2185	ENSP00000334219:G2118R;ENSP00000251268:G2185R	ENSP00000251268:G2185R	G	+	1	0	MEGF8	47564906	1.000000	0.71417	0.976000	0.42696	0.526000	0.34562	6.691000	0.74573	2.375000	0.81037	0.561000	0.74099	GGG		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		53	63	53	63
NLRP12	91662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	54314482	54314482	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:54314482T>A	ENST00000324134.6	-	3	599	c.431A>T	c.(430-432)aAt>aTt	p.N144I	NLRP12_ENST00000354278.3_Missense_Mutation_p.N144I|NLRP12_ENST00000535162.1_Missense_Mutation_p.N144I|NLRP12_ENST00000345770.5_Missense_Mutation_p.N144I|NLRP12_ENST00000351894.4_Missense_Mutation_p.N144I|NLRP12_ENST00000391775.3_Missense_Mutation_p.N144I|NLRP12_ENST00000391772.1_Missense_Mutation_p.N144I|NLRP12_ENST00000391773.1_Missense_Mutation_p.N144I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGGCGCGCATTGCGGTCTTC	0.567																																																0													92.0	89.0	90.0					19																	54314482		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.431A>T	19.37:g.54314482T>A	ENSP00000319377:p.Asn144Ile		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751195	0.49257	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.47	3.45	0.39498	.	0.000000	0.45867	D	0.000331	D	0.92456	0.7605	M	0.80183	2.485	0.26625	N	0.972585	D;D;D;D	0.89917	0.998;0.999;1.0;0.999	D;P;D;D	0.66196	0.915;0.897;0.942;0.924	D	0.85401	0.1131	10	0.66056	D	0.02	.	6.2404	0.20787	0.0:0.2045:0.0:0.7955	.	144;144;144;144	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	I	144	ENSP00000319377:N144I;ENSP00000438030:N144I;ENSP00000340473:N144I;ENSP00000346231:N144I;ENSP00000375655:N144I;ENSP00000375653:N144I;ENSP00000375652:N144I	ENSP00000319377:N144I	N	-	2	0	NLRP12	59006294	0.078000	0.21339	0.906000	0.35671	0.974000	0.67602	0.793000	0.26944	0.695000	0.31675	0.254000	0.18369	AAT		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		50	164	50	164
MARC2	54996	hgsc.bcm.edu;broad.mit.edu	37	1	220955136	220955136	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr1:220955136C>T	ENST00000366913.3	+	7	1099	c.901C>T	c.(901-903)Cct>Tct	p.P301S	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	301	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)	p.P301A(1)									CCTGTGTGATCCTTCTGAGAG	0.393																																																1	Substitution - Missense(1)	lung(1)											174.0	171.0	172.0					1																	220955136		2203	4300	6503	SO:0001583	missense	54996				CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.901C>T	1.37:g.220955136C>T	ENSP00000355880:p.Pro301Ser		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365984	0.82463	.	.	ENSG00000117791	ENST00000366913	T	0.22134	1.97	5.97	5.97	0.96955	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.080710	0.52532	D	0.000061	T	0.34106	0.0886	M	0.80982	2.52	0.58432	D	0.999996	P	0.37370	0.592	B	0.42882	0.401	T	0.07233	-1.0783	10	0.14656	T	0.56	-16.1003	17.3303	0.87261	0.0:1.0:0.0:0.0	.	301	Q969Z3	MOSC2_HUMAN	S	301	ENSP00000355880:P301S	ENSP00000355880:P301S	P	+	1	0	MOSC2	219021759	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.028000	0.64115	2.835000	0.97688	0.591000	0.81541	CCT		0.393	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		7	107	7	107
SLC52A3	113278	hgsc.bcm.edu;broad.mit.edu	37	20	744513	744513	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr20:744513G>A	ENST00000217254.7	-	3	943	c.702C>T	c.(700-702)tgC>tgT	p.C234C	SLC52A3_ENST00000381944.3_Silent_p.C234C|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	234					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										ACGCCACGAGGCAGCAGGCCA	0.612																																																0													79.0	71.0	74.0					20																	744513		2203	4300	6503	SO:0001819	synonymous_variant	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.702C>T	20.37:g.744513G>A			A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	CCDS13007.1																																																																																				0.612	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		6	89	6	89
ABCG8	64241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	44099378	44099378	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:44099378G>A	ENST00000272286.2	+	8	1234	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	382					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GACCCCACTAGACACCAACTG	0.582																																																0													68.0	62.0	64.0					2																	44099378		2203	4300	6503	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1144G>A	2.37:g.44099378G>A	ENSP00000272286:p.Asp382Asn		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424708	0.25639	.	.	ENSG00000143921	ENST00000272286	D	0.88201	-2.35	4.81	3.71	0.42584	.	0.871222	0.10331	N	0.687595	T	0.77968	0.4210	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.012;0.016	B;B	0.15484	0.013;0.006	T	0.65487	-0.6156	10	0.35671	T	0.21	.	10.8176	0.46585	0.11:0.0:0.89:0.0	.	381;382	Q9H221-2;Q9H221	.;ABCG8_HUMAN	N	382	ENSP00000272286:D382N	ENSP00000272286:D382N	D	+	1	0	ABCG8	43952882	0.471000	0.25862	0.103000	0.21229	0.016000	0.09150	2.947000	0.49058	2.215000	0.71742	0.591000	0.81541	GAC		0.582	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		13	62	13	62
LONRF2	164832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	100915722	100915722	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:100915722C>T	ENST00000393437.3	-	6	1966	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	LONRF2_ENST00000409647.1_Missense_Mutation_p.D200N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	443							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCAGTTACATCAAGCGAGAGC	0.418																																																0													87.0	86.0	87.0					2																	100915722		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1327G>A	2.37:g.100915722C>T	ENSP00000377086:p.Asp443Asn		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328003	0.81690	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.87103	-2.07;-2.21	3.88	3.0	0.34707	Zinc finger, RING/FYVE/PHD-type (1);	0.059156	0.64402	D	0.000004	D	0.82549	0.5061	L	0.47716	1.5	0.38156	D	0.938888	P	0.50819	0.939	B	0.42214	0.38	D	0.83990	0.0337	10	0.72032	D	0.01	-6.1386	11.3689	0.49687	0.0:0.9106:0.0:0.0894	.	443	Q1L5Z9	LONF2_HUMAN	N	443;200	ENSP00000377086:D443N;ENSP00000386823:D200N	ENSP00000377086:D443N	D	-	1	0	LONRF2	100282154	0.998000	0.40836	0.003000	0.11579	0.483000	0.33249	5.054000	0.64275	0.832000	0.34804	0.561000	0.74099	GAT		0.418	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		6	43	6	43
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	42	27	42
SLC6A3	6531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	1416304	1416304	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:1416304C>T	ENST00000270349.9	-	7	1067	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	314					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGGTGGCCGCGTCAATCCAA	0.627																																																0													66.0	60.0	62.0					5																	1416304		2203	4300	6503	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.940G>A	5.37:g.1416304C>T	ENSP00000270349:p.Ala314Thr		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239696	0.58995	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	D;D;D	0.91124	-2.79;-2.79;-2.79	3.88	3.88	0.44766	.	0.058084	0.64402	D	0.000002	D	0.96731	0.8933	H	0.96861	3.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.97807	1.0248	10	0.87932	D	0	.	13.7023	0.62616	0.0:1.0:0.0:0.0	.	314	Q01959	SC6A3_HUMAN	T	314;314;240	ENSP00000270349:A314T;ENSP00000399806:A314T;ENSP00000429101:A240T	ENSP00000270349:A314T	A	-	1	0	SLC6A3	1469304	1.000000	0.71417	0.026000	0.17262	0.051000	0.14879	7.015000	0.76387	1.891000	0.54761	0.561000	0.74099	GCG		0.627	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		11	72	11	72
KLHL3	26249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	136993906	136993906	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:136993906T>C	ENST00000309755.4	-	8	1260	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000394937.3_Missense_Mutation_p.M273V|KLHL3_ENST00000541417.1_Missense_Mutation_p.M153V|KLHL3_ENST00000506491.1_Missense_Mutation_p.M191V|KLHL3_ENST00000508657.1_Missense_Mutation_p.M241V	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	273					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGTATTTCATGGCCTCAATG	0.473																																																0													204.0	193.0	197.0					5																	136993906		2203	4300	6503	SO:0001583	missense	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.817A>G	5.37:g.136993906T>C	ENSP00000312397:p.Met273Val		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	T	8.933	0.963965	0.18583	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.73575	-0.76;-0.71;-0.74;0.34;-0.61;-0.41	5.47	4.29	0.51040	Galactose oxidase, beta-propeller (1);	0.081035	0.85682	D	0.000000	T	0.79563	0.4467	M	0.87269	2.87	0.53005	D	0.999966	B;B;B;B	0.32731	0.249;0.382;0.234;0.382	B;B;B;B	0.38985	0.103;0.103;0.287;0.146	T	0.79490	-0.1782	10	0.52906	T	0.07	.	11.994	0.53191	0.1296:0.0:0.0:0.8703	.	42;233;241;273	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77	.;.;.;KLHL3_HUMAN	V	191;241;273;153;233;273	ENSP00000424828:M191V;ENSP00000422099:M241V;ENSP00000312397:M273V;ENSP00000440319:M153V;ENSP00000426173:M233V;ENSP00000378395:M273V	ENSP00000312397:M273V	M	-	1	0	KLHL3	137021805	1.000000	0.71417	0.989000	0.46669	0.091000	0.18340	4.977000	0.63792	1.072000	0.40860	-0.327000	0.08410	ATG		0.473	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			44	72	44	72
PCDHB3	56132	hgsc.bcm.edu;broad.mit.edu	37	5	140480514	140480514	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140480514A>G	ENST00000231130.2	+	1	281	c.281A>G	c.(280-282)gAg>gGg	p.E94G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	94	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGAGGAGCTATGCGGC	0.463																																																0													87.0	92.0	90.0					5																	140480514		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.281A>G	5.37:g.140480514A>G	ENSP00000231130:p.Glu94Gly		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798669	0.31777	.	.	ENSG00000113205	ENST00000231130	T	0.33216	1.42	4.7	2.01	0.26516	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.36771	0.0979	M	0.87328	2.875	0.25397	N	0.988478	B	0.12630	0.006	B	0.21360	0.034	T	0.39702	-0.9601	9	0.52906	T	0.07	.	5.7665	0.18229	0.483:0.1352:0.0:0.3817	.	94	Q9Y5E6	PCDB3_HUMAN	G	94	ENSP00000231130:E94G	ENSP00000231130:E94G	E	+	2	0	PCDHB3	140460698	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	2.225000	0.42954	0.708000	0.31955	0.533000	0.62120	GAG		0.463	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		11	165	11	165
DEK	7913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	18236804	18236804	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:18236804T>G	ENST00000397239.3	-	9	1373	c.926A>C	c.(925-927)gAt>gCt	p.D309A	DEK_ENST00000244776.7_Missense_Mutation_p.D275A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	309	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TAAAGGTTCATCATCTGAACT	0.294			T	NUP214	AML																																		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													75.0	77.0	77.0					6																	18236804		2201	4295	6496	SO:0001583	missense	7913			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.926A>C	6.37:g.18236804T>G	ENSP00000380414:p.Asp309Ala		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500570	0.85176	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.49139	0.83;0.79	5.74	5.74	0.90152	.	0.163100	0.56097	D	0.000028	T	0.34861	0.0912	L	0.55481	1.735	0.58432	D	0.999998	P;P	0.52316	0.952;0.952	B;B	0.43360	0.417;0.417	T	0.12863	-1.0531	10	0.30854	T	0.27	-10.6995	16.3426	0.83092	0.0:0.0:0.0:1.0	.	275;309	B4DN37;P35659	.;DEK_HUMAN	A	309;275;85	ENSP00000380414:D309A;ENSP00000244776:D275A	ENSP00000244776:D275A	D	-	2	0	DEK	18344783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.709000	0.74665	2.317000	0.78254	0.460000	0.39030	GAT		0.294	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			8	67	8	67
BCLAF1	9774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	136588241	136588241	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:136588241T>G	ENST00000531224.1	-	11	2722	c.2470A>C	c.(2470-2472)Act>Cct	p.T824P	BCLAF1_ENST00000527536.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.T822P|BCLAF1_ENST00000392348.2_Intron|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T651P|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Missense_Mutation_p.T42P|BCLAF1_ENST00000353331.4_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	824					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAAAGTAGTATTTGAGTTG	0.393																																					Colon(142;1534 1789 5427 7063 28491)											0													130.0	125.0	127.0					6																	136588241		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2470A>C	6.37:g.136588241T>G	ENSP00000435210:p.Thr824Pro		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.29|14.29	2.490709|2.490709	0.44249|0.44249	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000530767;ENST00000527759;ENST00000031135|ENST00000534762	T;T;T;T|.	0.46451|.	2.87;2.46;2.87;0.87|.	5.95|5.95	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.36672|0.36672	1.1|1.1	0.42923|0.42923	D|D	0.994297|0.994297	B;B;B|.	0.06786|.	0.001;0.001;0.0|.	B;B;B|.	0.09377|.	0.004;0.004;0.001|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.48119|.	T|.	0.1|.	-7.9581|-7.9581	9.155|9.155	0.36988|0.36988	0.1229:0.0:0.1287:0.7484|0.1229:0.0:0.1287:0.7484	.|.	822;824;651|.	Q9NYF8-2;Q9NYF8;Q9NYF8-4|.	.;BCLF1_HUMAN;.|.	P|S	824;651;822;42|90	ENSP00000435210:T824P;ENSP00000436501:T651P;ENSP00000434826:T822P;ENSP00000031135:T42P|.	ENSP00000031135:T42P|.	T|Y	-|-	1|2	0|0	BCLAF1|BCLAF1	136629934|136629934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.062000|1.062000	0.30555|0.30555	1.038000|1.038000	0.40049|0.40049	0.528000|0.528000	0.53228|0.53228	ACT|TAC		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	87	10	87
TTLL2	83887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	167752140	167752140	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:167752140T>C	ENST00000239587.5	+	2	141	c.53T>C	c.(52-54)tTg>tCg	p.L18S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	18					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACAGATCTTTGAGAACCACC	0.488																																																0													163.0	137.0	146.0					6																	167752140		2203	4300	6503	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.53T>C	6.37:g.167752140T>C	ENSP00000239587:p.Leu18Ser		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	t	12.01	1.808558	0.31961	.	.	ENSG00000120440	ENST00000239587	T	0.03181	4.02	1.39	-2.78	0.05859	.	.	.	.	.	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44757	-0.9307	9	0.44086	T	0.13	.	6.0371	0.19714	0.0:0.5373:0.0:0.4627	.	18	Q9BWV7	TTLL2_HUMAN	S	18	ENSP00000239587:L18S	ENSP00000239587:L18S	L	+	2	0	TTLL2	167672130	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-1.637000	0.02015	-1.016000	0.03371	0.249000	0.18162	TTG		0.488	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		31	53	31	53
WBSCR17	64409	hgsc.bcm.edu;broad.mit.edu	37	7	70800596	70800596	+	Missense_Mutation	SNP	C	C	T	rs140476927		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:70800596C>T	ENST00000333538.5	+	2	933	c.299C>T	c.(298-300)cCg>cTg	p.P100L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	100					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGGCCTTCCGGCTACTCTT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		12104	0.0		0.001	False		,,,				2504	0.0															0								C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	36.0	41.0	39.0		299	4.9	1.0	7	dbSNP_134	39	2,8598	2.2+/-6.3	0,2,4298	yes	missense	WBSCR17	NM_022479.1	98	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	100/599	70800596	3,13003	2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.299C>T	7.37:g.70800596C>T	ENSP00000329654:p.Pro100Leu		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.41	3.617387	0.66672	2.27E-4	2.33E-4	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.56941	0.43;1.75	4.89	4.89	0.63831	.	0.474225	0.23439	N	0.048178	T	0.53318	0.1789	M	0.84846	2.72	0.80722	D	1	P	0.42337	0.776	B	0.26864	0.074	T	0.68006	-0.5523	10	0.62326	D	0.03	.	17.1948	0.86890	0.0:1.0:0.0:0.0	.	100	Q6IS24	GLTL3_HUMAN	L	100;78	ENSP00000329654:P100L;ENSP00000392019:P78L	ENSP00000329654:P100L	P	+	2	0	WBSCR17	70438532	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	7.320000	0.79064	2.530000	0.85305	0.491000	0.48974	CCG		0.463	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		7	92	7	92
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu	37	8	139768055	139768055	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:139768055C>T	ENST00000303045.6	-	19	2366	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	COL22A1_ENST00000435777.1_Silent_p.A640A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	640	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGTGGCCCCGCAGGTCCCA	0.547										HNSCC(7;0.00092)																																						0													159.0	121.0	134.0					8																	139768055		2203	4300	6503	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1920G>A	8.37:g.139768055C>T			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.547	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		11	169	11	169
KANK1	23189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	713193	713193	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:713193G>A	ENST00000382303.1	+	7	3079	c.2427G>A	c.(2425-2427)gaG>gaA	p.E809E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E651E|KANK1_ENST00000382297.2_Silent_p.E809E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	809					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AATCTCTGGAGAACCCCCAGC	0.572																																																0													95.0	94.0	95.0					9																	713193		2203	4300	6503	SO:0001819	synonymous_variant	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2427G>A	9.37:g.713193G>A			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																				0.572	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		17	180	17	180
SNAPC4	6621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	139291430	139291430	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:139291430G>A	ENST00000298532.2	-	2	544	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACAGTTACCGAGATCGGGGG	0.567																																																0													94.0	89.0	90.0					9																	139291430		2203	4300	6503	SO:0001630	splice_region_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.177+1C>T	9.37:g.139291430G>A				Splice_Site	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	5.888	0.348009	0.11126	.	.	ENSG00000165684	ENST00000298532	T	0.29397	1.57	3.81	-3.86	0.04230	.	1.931730	0.02393	N	0.079909	T	0.19604	0.0471	L	0.31294	0.92	0.19300	N	0.999971	B	0.16396	0.017	B	0.06405	0.002	T	0.38134	-0.9675	10	0.02654	T	1	-0.0284	11.0615	0.47950	0.8169:0.0:0.1831:0.0	.	59	Q5SXM2	SNPC4_HUMAN	L	59	ENSP00000298532:S59L	ENSP00000298532:S59L	S	-	2	0	SNAPC4	138411251	0.220000	0.23631	0.167000	0.22817	0.249000	0.25844	-0.162000	0.10012	-0.817000	0.04335	-0.345000	0.07892	TCG		0.567	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	Missense_Mutation	52	122	52	122
USP9X	8239	hgsc.bcm.edu;broad.mit.edu	37	X	41084138	41084138	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:41084138A>G	ENST00000324545.8	+	40	7528	c.6895A>G	c.(6895-6897)Acc>Gcc	p.T2299A	USP9X_ENST00000378308.2_Missense_Mutation_p.T2299A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2299					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCAGAGGAAACCGTCAAATT	0.383																																					Ovarian(172;1807 2695 35459 49286)											0													118.0	114.0	115.0					X																	41084138		2200	4300	6500	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6895A>G	X.37:g.41084138A>G	ENSP00000316357:p.Thr2299Ala		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	8.113	0.779313	0.16120	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02944	4.11;4.1	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.03739	0.0106	L	0.40543	1.245	0.58432	D	0.999999	B;B	0.22146	0.052;0.065	B;B	0.17098	0.017;0.01	T	0.51116	-0.8746	10	0.25751	T	0.34	.	14.7908	0.69841	1.0:0.0:0.0:0.0	.	2299;2299	Q93008-1;Q93008	.;USP9X_HUMAN	A	2299	ENSP00000367558:T2299A;ENSP00000316357:T2299A	ENSP00000316357:T2299A	T	+	1	0	USP9X	40969082	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	8.850000	0.92190	1.874000	0.54306	0.441000	0.28932	ACC		0.383	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	55	5	55
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76940500	76940500	+	Splice_Site	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76940500T>C	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAGCAATTCTATTAAAAGAA	0.294			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											92.0	86.0	88.0					X																	76940500		2203	4294	6497	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.595-2A>G	X.37:g.76940500T>C			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140068	0.77775	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3803	0.66907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76827156	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.328000	0.65887	1.844000	0.53588	0.345000	0.21793	.		0.294	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	6	35	6	35
ATP2B3	492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	152813393	152813393	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:152813393C>T	ENST00000349466.2	+	8	1385	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	ATP2B3_ENST00000370181.2_Silent_p.P339P|ATP2B3_ENST00000393842.1_Silent_p.P339P|ATP2B3_ENST00000359149.3_Silent_p.P353P|ATP2B3_ENST00000370186.1_Silent_p.P339P|ATP2B3_ENST00000263519.4_Silent_p.P353P			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	353					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAACGCACCCAAAAAGGAGA	0.592																																																0													181.0	137.0	152.0					X																	152813393		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1059C>T	X.37:g.152813393C>T			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																				0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		18	91	18	91
CPA1	1357	broad.mit.edu;ucsc.edu	37	7	130023308	130023308	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:130023308C>T	ENST00000011292.3	+	5	710	c.560C>T	c.(559-561)gCc>gTc	p.A187V	CPA1_ENST00000484324.1_Missense_Mutation_p.A99V	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	187					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCACCCAGGCCAGTGGGGTC	0.642																																																0													55.0	61.0	59.0					7																	130023308		2203	4300	6503	SO:0001583	missense	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.560C>T	7.37:g.130023308C>T	ENSP00000011292:p.Ala187Val		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337919	0.60963	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.58	3.71	0.42584	Peptidase M14, carboxypeptidase A (3);	0.046548	0.85682	D	0.000000	T	0.56572	0.1994	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	T	0.76457	-0.2952	10	0.87932	D	0	.	15.1042	0.72306	0.0:0.731:0.269:0.0	.	99;187	B4DDW9;P15085	.;CBPA1_HUMAN	V	99;187;99;99	ENSP00000420218:A99V;ENSP00000011292:A187V;ENSP00000419408:A99V;ENSP00000419497:A99V	ENSP00000011292:A187V	A	+	2	0	CPA1	129810544	1.000000	0.71417	0.896000	0.35187	0.025000	0.11179	7.487000	0.81328	0.667000	0.31107	-0.182000	0.12963	GCC		0.642	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		19	51	19	51
USP44	84101	broad.mit.edu;ucsc.edu	37	12	95926723	95926723	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:95926723C>T	ENST00000258499.3	-	2	1598	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	USP44_ENST00000393091.2_Missense_Mutation_p.R437H|USP44_ENST00000537435.2_Missense_Mutation_p.R437H|USP44_ENST00000552440.1_Missense_Mutation_p.R437H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	437	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCTAATTCACGTTGTATTTT	0.393																																																0													106.0	107.0	107.0					12																	95926723		2203	4300	6503	SO:0001583	missense	84101			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1310G>A	12.37:g.95926723C>T	ENSP00000258499:p.Arg437His		B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976262	0.18736	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.1	2.75	0.32379	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.226615	0.53938	N	0.000052	T	0.13970	0.0338	N	0.05441	-0.05	0.31694	N	0.641482	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.22706	T	0.39	.	8.8257	0.35054	0.0:0.1563:0.0:0.8437	.	437	Q9H0E7	UBP44_HUMAN	H	437	ENSP00000258499:R437H;ENSP00000376806:R437H;ENSP00000448670:R437H;ENSP00000442629:R437H	ENSP00000258499:R437H	R	-	2	0	USP44	94450854	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.473000	0.53122	0.384000	0.24942	-0.351000	0.07748	CGT		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		11	77	11	77
ATRX	546	broad.mit.edu	37	X	76937770	76937770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76937770delT	ENST00000373344.5	-	9	3192	c.2978delA	c.(2977-2979)aagfs	p.K994fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K956fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	994					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGAAGGTTTCTTTTTTTCTTC	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											74.0	80.0	78.0					X																	76937770		2202	4292	6494	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2978delA	X.37:g.76937770delT	ENSP00000362441:p.Lys994fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	74	11	74
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Unknown(1)|Deletion - Frameshift(1)	bone(1)|pancreas(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	12	8	12
ATRX	546	broad.mit.edu	37	X	76909677	76909680	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76909677_76909680delCTTT	ENST00000373344.5	-	14	4439_4442	c.4225_4228delAAAG	c.(4225-4230)aaagcafs	p.KA1409fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KA1371fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1409					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCAACTCTGCTTTCTTTGCAGAC	0.319			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4225_4228delAAAG	X.37:g.76909681_76909684delCTTT	ENSP00000362441:p.Lys1409fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.319	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	48	8	48
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	rs587781288		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578508C>T	ENST00000269305.4	-	5	611	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000420246.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGCACAGGGCAGGTCTTGGC	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	121	Substitution - Missense(99)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	large_intestine(23)|breast(17)|ovary(12)|haematopoietic_and_lymphoid_tissue(7)|oesophagus(7)|liver(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(6)|lung(5)|prostate(5)|bone(5)|stomach(4)|soft_tissue(2)|biliary_tract(1)|testis(1)|pancreas(1)	GRCh37	CM993216	TP53	M							56.0	55.0	55.0					17																	7578508		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.422G>A	17.37:g.7578508C>T	ENSP00000269305:p.Cys141Tyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720132	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.48	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99832	0.9924	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.987;1.0;0.999;1.0;1.0	D	0.96735	0.9542	10	0.87932	D	0	-26.1094	13.743	0.62860	0.1552:0.8448:0.0:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141Y;ENSP00000352610:C141Y;ENSP00000269305:C141Y;ENSP00000398846:C141Y;ENSP00000391127:C141Y;ENSP00000391478:C141Y;ENSP00000425104:C9Y;ENSP00000423862:C48Y;ENSP00000424104:C141Y	ENSP00000269305:C141Y	C	-	2	0	TP53	7519233	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.016000	0.70798	1.427000	0.47276	-0.182000	0.12963	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	78	5	78
