#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
HPS6	79803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	103827403	103827403	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:103827403G>T	ENST00000299238.5	+	1	2257	c.2172G>T	c.(2170-2172)gaG>gaT	p.E724D		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	724					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CATTCCCTGAGCCTGGAGCAG	0.617									Hermansky-Pudlak syndrome																																							0													38.0	38.0	38.0					10																	103827403		2202	4300	6502	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2172G>T	10.37:g.103827403G>T	ENSP00000299238:p.Glu724Asp		Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	2.324	-0.355006	0.05138	.	.	ENSG00000166189	ENST00000299238	T	0.79554	-1.28	4.85	3.94	0.45596	.	0.576343	0.18340	N	0.144219	T	0.66954	0.2842	L	0.38175	1.15	0.26627	N	0.972547	B	0.12013	0.005	B	0.12837	0.008	T	0.50398	-0.8833	10	0.15066	T	0.55	-8.4771	5.9684	0.19338	0.3197:0.0:0.6803:0.0	.	724	Q86YV9	HPS6_HUMAN	D	724	ENSP00000299238:E724D	ENSP00000299238:E724D	E	+	3	2	HPS6	103817393	0.998000	0.40836	1.000000	0.80357	0.452000	0.32318	0.615000	0.24329	1.270000	0.44297	-0.291000	0.09656	GAG		0.617	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		32	48	32	48
MUC2	4583	hgsc.bcm.edu;ucsc.edu	37	11	1080349	1080349	+	Missense_Mutation	SNP	G	G	A	rs148500799	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:1080349G>A	ENST00000441003.2	+	8	1096	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	MUC2_ENST00000359061.5_Missense_Mutation_p.G357R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	357					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGCTGCACGGACACCTGTA	0.667													G|||	5	0.000998403	0.003	0.0	5008	,	,		16976	0.001		0.0	False		,,,				2504	0.0															0													28.0	33.0	31.0					11																	1080349		2146	4247	6393	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1069G>A	11.37:g.1080349G>A	ENSP00000415183:p.Gly357Arg		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		6	0.0027472527472527475	5	0.01016260162601626	0	0.0	1	0.0017482517482517483	0	0.0	G	13.48	2.251080	0.39797	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.73258	-0.73;-0.73	3.95	3.95	0.45737	.	0.096416	0.40302	U	0.001126	T	0.77935	0.4205	M	0.72118	2.19	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.73701	-0.3900	10	0.87932	D	0	.	16.1892	0.81975	0.0:0.0:1.0:0.0	.	357	E7EUV1	.	R	357	ENSP00000415183:G357R;ENSP00000351956:G357R	ENSP00000351956:G357R	G	+	1	0	MUC2	1070349	0.671000	0.27521	0.052000	0.19188	0.219000	0.24729	1.903000	0.39858	2.055000	0.61198	0.491000	0.48974	GGA		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	40	6	40
AMOTL1	154810	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	94554782	94554782	+	Missense_Mutation	SNP	A	A	G	rs370254208		TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:94554782A>G	ENST00000433060.2	+	4	1349	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.H353R	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	403					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGGCCACTGCACTCTGTCTCC	0.667																																																0								A	ARG/HIS	0,4212		0,0,2106	26.0	33.0	31.0		1208	5.5	1.0	11		31	1,8457		0,1,4228	no	missense	AMOTL1	NM_130847.2	29	0,1,6334	GG,GA,AA		0.0118,0.0,0.0079	possibly-damaging	403/957	94554782	1,12669	2106	4229	6335	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1208A>G	11.37:g.94554782A>G	ENSP00000387739:p.His403Arg		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.408075	0.25378	0.0	1.18E-4	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.17213	2.3;2.29	5.48	5.48	0.80851	.	0.151158	0.45606	D	0.000353	T	0.11707	0.0285	L	0.40543	1.245	0.80722	D	1	B;P	0.35363	0.358;0.497	B;B	0.27076	0.076;0.067	T	0.11372	-1.0590	10	0.11794	T	0.64	-33.3506	11.3838	0.49773	0.8566:0.0:0.0:0.1434	.	353;403	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	R	353;409;403	ENSP00000320968:H353R;ENSP00000387739:H403R	ENSP00000320968:H353R	H	+	2	0	AMOTL1	94194430	1.000000	0.71417	0.999000	0.59377	0.183000	0.23260	3.326000	0.52037	2.096000	0.63516	0.459000	0.35465	CAC		0.667	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		11	30	11	30
ABR	29	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	1028592	1028592	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028592G>C	ENST00000302538.5	-	2	318	c.172C>G	c.(172-174)Ccg>Gcg	p.P58A	ABR_ENST00000574437.1_Missense_Mutation_p.P12A|ABR_ENST00000544583.2_Missense_Mutation_p.P12A	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	58					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTGAGCTGCGGGGACATGGTG	0.672																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											0													94.0	90.0	91.0					17																	1028592		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.172C>G	17.37:g.1028592G>C	ENSP00000303909:p.Pro58Ala		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789248	0.90367	.	.	ENSG00000159842	ENST00000302538;ENST00000544583	T;T	0.23552	2.11;1.9	5.36	5.36	0.76844	.	0.056735	0.64402	D	0.000001	T	0.46112	0.1376	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.995	D;D	0.75484	0.986;0.917	T	0.16070	-1.0415	10	0.33141	T	0.24	.	16.5833	0.84720	0.0:0.0:1.0:0.0	.	12;58	B3KW89;Q12979	.;ABR_HUMAN	A	58;12	ENSP00000303909:P58A;ENSP00000442048:P12A	ENSP00000303909:P58A	P	-	1	0	ABR	975342	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	8.509000	0.90529	2.509000	0.84616	0.561000	0.74099	CCG		0.672	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			44	154	44	154
ABR	29	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	1028596	1028596	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028596C>A	ENST00000302538.5	-	2	314	c.168G>T	c.(166-168)atG>atT	p.M56I	ABR_ENST00000574437.1_Missense_Mutation_p.M10I|ABR_ENST00000544583.2_Missense_Mutation_p.M10I	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	56					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCTGCGGGGACATGGTGGGCG	0.667																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											0													97.0	92.0	94.0					17																	1028596		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.168G>T	17.37:g.1028596C>A	ENSP00000303909:p.Met56Ile		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850045	0.51270	.	.	ENSG00000159842	ENST00000302538;ENST00000544583	T;T	0.18657	2.2;2.21	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	L	0.43152	1.355	0.80722	D	1	P;B	0.39094	0.659;0.042	P;B	0.55391	0.775;0.03	T	0.01791	-1.1273	10	0.18710	T	0.47	.	16.5833	0.84720	0.0:1.0:0.0:0.0	.	10;56	B3KW89;Q12979	.;ABR_HUMAN	I	56;10	ENSP00000303909:M56I;ENSP00000442048:M10I	ENSP00000303909:M56I	M	-	3	0	ABR	975346	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.733000	0.74796	2.509000	0.84616	0.561000	0.74099	ATG		0.667	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			49	157	49	157
ABR	29	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	1028598	1028598	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028598T>A	ENST00000302538.5	-	2	312	c.166A>T	c.(166-168)Atg>Ttg	p.M56L	ABR_ENST00000574437.1_Missense_Mutation_p.M10L|ABR_ENST00000544583.2_Missense_Mutation_p.M10L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	56					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGGGGACATGGTGGGCGAC	0.672																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											0													100.0	94.0	96.0					17																	1028598		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.166A>T	17.37:g.1028598T>A	ENSP00000303909:p.Met56Leu		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	T	9.086	1.000528	0.19121	.	.	ENSG00000159842	ENST00000302538;ENST00000544583	T;T	0.17691	2.27;2.26	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	L	0.43152	1.355	0.80722	D	1	B;B	0.30068	0.267;0.0	P;B	0.44647	0.456;0.002	T	0.02464	-1.1155	10	0.02654	T	1	.	13.3088	0.60368	0.0:0.0:0.0:1.0	.	10;56	B3KW89;Q12979	.;ABR_HUMAN	L	56;10	ENSP00000303909:M56L;ENSP00000442048:M10L	ENSP00000303909:M56L	M	-	1	0	ABR	975348	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.921000	0.75805	2.030000	0.59900	0.459000	0.35465	ATG		0.672	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			49	163	49	163
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10348604	10348604	+	Missense_Mutation	SNP	C	C	T	rs144889690	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10348604C>T	ENST00000255381.2	-	36	5355	c.5245G>A	c.(5245-5247)Gtc>Atc	p.V1749I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1749					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTCCTGGACGATGTCCTCC	0.468													C|||	3	0.000599042	0.0	0.0	5008	,	,		18799	0.002		0.0	False		,,,				2504	0.001															0								C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	266.0	207.0	227.0		5245	3.6	1.0	17	dbSNP_134	227	0,8600		0,0,4300	no	missense	MYH4	NM_017533.2	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	1749/1940	10348604	4,13002	2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5245G>A	17.37:g.10348604C>T	ENSP00000255381:p.Val1749Ile			Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.234	0.228652	0.09916	9.08E-4	0.0	ENSG00000141048	ENST00000255381	T	0.77877	-1.13	5.58	3.58	0.41010	Myosin tail (1);	0.490918	0.14842	N	0.295219	T	0.57519	0.2059	N	0.11892	0.195	0.22479	N	0.999065	B	0.06786	0.001	B	0.04013	0.001	T	0.29274	-1.0017	10	0.07175	T	0.84	.	11.7821	0.52021	0.0:0.7466:0.0:0.2534	.	1749	Q9Y623	MYH4_HUMAN	I	1749	ENSP00000255381:V1749I	ENSP00000255381:V1749I	V	-	1	0	MYH4	10289329	0.005000	0.15991	0.989000	0.46669	0.381000	0.30169	0.096000	0.15147	0.411000	0.25702	-1.579000	0.00862	GTC		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		50	102	50	102
MYH2	4620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10436665	10436665	+	Missense_Mutation	SNP	C	C	T	rs578188627		TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10436665C>T	ENST00000245503.5	-	21	2762	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	MYH2_ENST00000397183.2_Missense_Mutation_p.R793Q|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	793	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCTGGGTTCGGGTAATCAG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		10760	0.001		0.0	False		,,,				2504	0.0															0													87.0	87.0	87.0					17																	10436665		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2378G>A	17.37:g.10436665C>T	ENSP00000245503:p.Arg793Gln		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705425	0.68615	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.71817	-0.6;-0.6	5.07	5.07	0.68467	.	0.000000	0.35677	U	0.003056	T	0.65123	0.2661	L	0.43646	1.37	0.44798	D	0.997809	B	0.18610	0.029	B	0.18561	0.022	T	0.59337	-0.7473	10	0.27082	T	0.32	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	793	Q9UKX2	MYH2_HUMAN	Q	793	ENSP00000245503:R793Q;ENSP00000380367:R793Q	ENSP00000245503:R793Q	R	-	2	0	MYH2	10377390	0.000000	0.05858	0.973000	0.42090	0.943000	0.58893	0.455000	0.21843	2.634000	0.89283	0.591000	0.81541	CGA		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		20	64	20	64
ATP9B	374868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	77134067	77134067	+	Silent	SNP	C	C	T	rs181592531	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr18:77134067C>T	ENST00000426216.2	+	28	3257	c.3240C>T	c.(3238-3240)taC>taT	p.Y1080Y	ATP9B_ENST00000307671.7_Silent_p.Y1080Y|ATP9B_ENST00000543761.1_Silent_p.Y401Y	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1080					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TAGGCTGCTACGTGTCCTCAC	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		19063	0.002		0.0	False		,,,				2504	0.0															0													123.0	102.0	109.0					18																	77134067		2203	4300	6503	SO:0001819	synonymous_variant	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.3240C>T	18.37:g.77134067C>T			O60872|Q08AD8|Q08AD9	Silent	SNP	ENST00000426216.2	37	CCDS12014.1																																																																																				0.478	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		17	50	17	50
NLRP3	114548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	247587695	247587695	+	Missense_Mutation	SNP	C	C	T	rs180177462		TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:247587695C>T	ENST00000336119.3	+	3	1696	c.950C>T	c.(949-951)cCg>cTg	p.P317L	NLRP3_ENST00000348069.2_Missense_Mutation_p.P317L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P317L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.P317L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P317L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P317L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	317	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACATAGGACCGCTCTGCACT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18378	0.001		0.0	False		,,,				2504	0.0															0			GRCh37	CM060236	NLRP3	M	rs180177462	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	69.0	69.0	69.0		950,950,950,950,950	0.9	0.0	1		69	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NLRP3	NM_183395.2,NM_004895.4,NM_001127462.2,NM_001127461.2,NM_001079821.2	98,98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	317/923,317/1037,317/980,317/980,317/1037	247587695	1,13005	2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.950C>T	1.37:g.247587695C>T	ENSP00000337383:p.Pro317Leu		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	4.226	0.040747	0.08196	2.27E-4	0.0	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.75260	-0.85;-0.86;-0.85;-0.92;-0.86;-0.89	4.04	0.887	0.19200	NACHT nucleoside triphosphatase (1);	0.844988	0.10340	N	0.686446	T	0.61999	0.2392	L	0.52266	1.64	0.09310	N	1	B;B;P;B;B	0.42357	0.087;0.102;0.777;0.287;0.042	B;B;B;B;B	0.36289	0.046;0.086;0.221;0.103;0.008	T	0.51795	-0.8660	10	0.44086	T	0.13	.	4.7316	0.12968	0.4776:0.4099:0.0:0.1124	.	317;317;317;317;317	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	317	ENSP00000375704:P317L;ENSP00000355453:P317L;ENSP00000337383:P317L;ENSP00000294752:P317L;ENSP00000355452:P317L;ENSP00000375703:P317L	ENSP00000337383:P317L	P	+	2	0	NLRP3	245654318	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.252000	0.08806	0.187000	0.20147	0.563000	0.77884	CCG		0.567	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		39	115	39	115
FANCD2	2177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	10085520	10085520	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:10085520A>G	ENST00000419585.1	+	14	1267	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	FANCD2_ENST00000383807.1_Missense_Mutation_p.E369G|FANCD2_ENST00000287647.3_Missense_Mutation_p.E369G|FANCD2_ENST00000383806.1_Missense_Mutation_p.E369G			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	369					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAGGCAATTGAAAACACTGCC	0.388			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													93.0	86.0	88.0					3																	10085520		2203	4297	6500	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1106A>G	3.37:g.10085520A>G	ENSP00000398754:p.Glu369Gly		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889076	0.52014	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.81	4.81	0.61882	.	0.048345	0.85682	D	0.000000	T	0.69975	0.3171	M	0.71581	2.175	0.48975	D	0.999733	D;D	0.61697	0.99;0.99	P;P	0.59825	0.794;0.864	T	0.73161	-0.4070	10	0.56958	D	0.05	.	12.3796	0.55299	1.0:0.0:0.0:0.0	.	369;369	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	G	369	ENSP00000287647:E369G;ENSP00000373318:E369G;ENSP00000373317:E369G;ENSP00000398754:E369G	ENSP00000287647:E369G	E	+	2	0	FANCD2	10060520	1.000000	0.71417	0.959000	0.39883	0.123000	0.20343	6.574000	0.74014	1.804000	0.52760	0.373000	0.22412	GAA		0.388	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			9	21	9	21
CPN2	1370	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	194062520	194062520	+	Silent	SNP	G	G	C	rs374665691		TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:194062520G>C	ENST00000323830.3	-	2	1001	c.912C>G	c.(910-912)gtC>gtG	p.V304V	CPN2_ENST00000429275.1_Silent_p.V304V	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	304					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCCCTCAGCGACAGTCTCCA	0.602																																																0													51.0	47.0	48.0					3																	194062520		2203	4300	6503	SO:0001819	synonymous_variant	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.912C>G	3.37:g.194062520G>C			B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	CCDS33920.1																																																																																				0.602	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		18	77	18	77
GABRB2	2561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	160721230	160721230	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:160721230C>T	ENST00000393959.1	-	10	1396	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	GABRB2_ENST00000517901.1_Missense_Mutation_p.R365H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R466H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R428H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R428H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R268H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	466					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCCTCAGGCGACTTTTCTT	0.517																																																0													113.0	102.0	106.0					5																	160721230		2203	4300	6503	SO:0001583	missense	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1397G>A	5.37:g.160721230C>T	ENSP00000377531:p.Arg466His		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874938	0.51695	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.59	4.72	0.59763	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.164240	0.52532	N	0.000064	D	0.87160	0.6108	L	0.31157	0.91	0.58432	D	0.999999	D;B;B;B	0.76494	0.999;0.013;0.013;0.01	D;B;B;B	0.78314	0.991;0.014;0.013;0.008	D	0.85856	0.1407	10	0.32370	T	0.25	.	14.7003	0.69152	0.0:0.9296:0.0:0.0704	.	268;365;466;428	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	466;466;428;428;365;268	ENSP00000377531:R466H;ENSP00000274547:R466H;ENSP00000274546:R428H;ENSP00000429320:R428H;ENSP00000430532:R365H;ENSP00000429750:R268H	ENSP00000274547:R466H	R	-	2	0	GABRB2	160653808	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.998000	0.70653	1.358000	0.45922	0.650000	0.86243	CGC		0.517	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			22	81	22	81
TULP1	7287	hgsc.bcm.edu;broad.mit.edu	37	6	35474051	35474051	+	Splice_Site	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:35474051C>T	ENST00000229771.6	-	9	907	c.828G>A	c.(826-828)gcG>gcA	p.A276A	TULP1_ENST00000322263.4_Splice_Site_p.A223A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	276					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GACAACTCACCGCTTTCTGTG	0.687																																					GBM(55;1027 1091 11115 23439)											0													15.0	17.0	16.0					6																	35474051		2184	4267	6451	SO:0001630	splice_region_variant	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.828+1G>A	6.37:g.35474051C>T			O43536|Q5TGM5|Q8N571	Splice_Site	SNP	ENST00000229771.6	37	CCDS4807.1																																																																																				0.687	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2		Silent	5	8	5	8
PHF3	23469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	64422286	64422286	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:64422286A>G	ENST00000262043.3	+	16	5142	c.4802A>G	c.(4801-4803)cAa>cGa	p.Q1601R	PHF3_ENST00000393387.1_Missense_Mutation_p.Q1601R			Q92576	PHF3_HUMAN	PHD finger protein 3	1601					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGGAAGATCAAGAGAATAAT	0.333																																					GBM(135;136 1820 29512 34071 46235)											0													62.0	59.0	60.0					6																	64422286		2203	4300	6503	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4802A>G	6.37:g.64422286A>G	ENSP00000262043:p.Gln1601Arg		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	9.101	1.004166	0.19199	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.21932	1.98;1.98	5.98	4.8	0.61643	.	0.000000	0.38005	N	0.001856	T	0.05364	0.0142	L	0.32530	0.975	0.26909	N	0.966939	P	0.35077	0.483	B	0.25140	0.058	T	0.20207	-1.0282	9	.	.	.	-5.0958	12.6168	0.56582	0.7388:0.2612:0.0:0.0	.	1601	Q92576	PHF3_HUMAN	R	1601	ENSP00000262043:Q1601R;ENSP00000377048:Q1601R	.	Q	+	2	0	PHF3	64480245	1.000000	0.71417	0.992000	0.48379	0.258000	0.26162	3.276000	0.51646	1.065000	0.40693	-0.438000	0.05819	CAA		0.333	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			16	35	16	35
SLC9A7	84679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	46510652	46510652	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chrX:46510652C>T	ENST00000328306.4	-	10	1265	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	414					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TGTAACACCTCAAAGAGCTGC	0.498																																					Pancreas(118;454 1696 1930 13865 39976)											0													109.0	96.0	101.0					X																	46510652		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1240G>A	X.37:g.46510652C>T	ENSP00000330320:p.Glu414Lys		O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269198	0.95429	.	.	ENSG00000065923	ENST00000328306	T	0.15372	2.43	5.7	5.7	0.88788	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.04307	-1.0961	10	0.17369	T	0.5	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	414	Q96T83	SL9A7_HUMAN	K	414	ENSP00000330320:E414K	ENSP00000330320:E414K	E	-	1	0	SLC9A7	46395596	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	GAG		0.498	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		19	22	19	22
PEG10	23089	broad.mit.edu;ucsc.edu	37	7	94293706	94293706	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr7:94293706C>T	ENST00000482108.1	+	2	1317	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	PEG10_ENST00000488574.1_Missense_Mutation_p.R280C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	280					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCCGCATGCGCCTGACGCA	0.602																																																0													20.0	26.0	24.0					7																	94293706		1993	4158	6151	SO:0001583	missense	23089			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.838C>T	7.37:g.94293706C>T	ENSP00000417587:p.Arg280Cys		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496850	0.64186	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14144	2.53;2.53	4.34	4.34	0.51931	.	.	.	.	.	T	0.29158	0.0725	L	0.46157	1.445	0.31459	N	0.669811	D;D	0.76494	0.999;0.999	D;P	0.64877	0.93;0.898	T	0.08764	-1.0706	9	0.72032	D	0.01	.	14.7868	0.69810	0.0:1.0:0.0:0.0	.	356;280	B4DSP0;Q86TG7	.;PEG10_HUMAN	C	280	ENSP00000417587:R280C;ENSP00000418944:R280C	ENSP00000417587:R280C	R	+	1	0	PEG10	94131642	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.264000	0.33015	2.429000	0.82318	0.555000	0.69702	CGC		0.602	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		3	26	3	26
NF1	4763	broad.mit.edu;ucsc.edu	37	17	29552216	29552216	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29552216T>A	ENST00000358273.4	+	17	2332	c.1949T>A	c.(1948-1950)tTa>tAa	p.L650*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L650*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	650					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATGAAGAATTACTACGTACT	0.423			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											163.0	159.0	161.0					17																	29552216		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1949T>A	17.37:g.29552216T>A	ENSP00000351015:p.Leu650*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	34	5.406287	0.96051	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.26	4.15	0.48705	.	0.800107	0.10940	N	0.617381	.	.	.	.	.	.	0.25357	N	0.988817	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.0051	0.41953	0.0:0.0784:0.0:0.9216	.	.	.	.	X	650;650;316	.	ENSP00000348498:L650X	L	+	2	0	NF1	26576342	0.191000	0.23288	0.008000	0.14137	0.796000	0.44982	2.399000	0.44495	0.805000	0.34159	0.529000	0.55759	TTA		0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		38	128	38	128
NEGR1	257194	broad.mit.edu;hgsc.bcm.edu	37	1	72748064	72748065	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:72748064_72748065delCA	ENST00000357731.5	-	1	352_353	c.113_114delTG	c.(112-114)gtgfs	p.V38fs	NEGR1_ENST00000434200.1_Frame_Shift_Del_p.V36fs	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	38	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGGGAAGTCCACACTCTGTCC	0.614																																																0																																										SO:0001589	frameshift_variant	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.113_114delTG	1.37:g.72748066_72748067delCA	ENSP00000350364:p.Val38fs		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Frame_Shift_Del	DEL	ENST00000357731.5	37	CCDS661.1																																																																																				0.614	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		27	90	27	90
TMEM133	83935	broad.mit.edu;hgsc.bcm.edu	37	11	100863216	100863216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:100863216delC	ENST00000303130.2	+	1	406	c.177delC	c.(175-177)atcfs	p.I59fs		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	59						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CTTCCAAAATCAAGACACTTT	0.388																																																0													132.0	131.0	131.0					11																	100863216		2203	4300	6503	SO:0001589	frameshift_variant	83935			AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.177delC	11.37:g.100863216delC	ENSP00000303999:p.Ile59fs			Frame_Shift_Del	DEL	ENST00000303130.2	37	CCDS8309.1																																																																																				0.388	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		26	101	26	101
NF1	4763	broad.mit.edu;hgsc.bcm.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	GRCh37	CD000973|CD972354	NF1	D																																				SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3737_3740delTGTT	17.37:g.29562657_29562660delTGTT	ENSP00000351015:p.Leu1246fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.412	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		62	189	62	189
