#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAGEA6	4105	broad.mit.edu	37	X	151869868	151869868	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chrX:151869868C>T	ENST00000329342.5	+	3	783	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	186	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCTCCTACGATGGCCTGC	0.557																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(556-558)taC>taT		melanoma antigen family A, 6							111.0	106.0	108.0					X																	151869868		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869868C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.558C>T	X.37:g.151869868C>T							p.Y186Y	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	783	+	Acute lymphoblastic leukemia(192;6.56e-05)		186			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.558C>T	CCDS14708.1																																																																																				0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		4	61	0	0	0	1	0	4	61				
RASA4B	100271927	broad.mit.edu	37	7	102136604	102136604	+	Missense_Mutation	SNP	C	C	T	rs746316	byFrequency	TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr7:102136604C>T	ENST00000465829.1	-	11	1124	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	352	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.V352M(1)		skin(1)	1						AAAGACTCCACGGACTTTGAG	0.542																																						ENST00000481893.1																			1	Substitution - Missense(1)	p.V352M(1)	kidney(1)	skin(1)	1						c.(838-840)Gtg>Atg		RAS p21 protein activator 4B																																				SO:0001583	missense	100271927							g.chr7:102136604C>T		CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.1054G>A	7.37:g.102136604C>T	ENSP00000417895:p.Val352Met					RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M	p.V280M							16	1962	-									Missense_Mutation	SNP	ENST00000465829.1	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	.	0.013	-1.627428	0.00813	.	.	ENSG00000170667	ENST00000541662;ENST00000465829;ENST00000481893;ENST00000306682	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.05	4.05	0.47172	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	N	0.000000	T	0.39989	0.1099	N	0.00538	-1.39	0.20873	N	0.999832	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	8.9242	0.35630	0.0:0.0917:0.0:0.9083	rs746316;rs11547192	280;352;352	F8W6L0;F5GXT2;C9J798	.;.;RAS4B_HUMAN	M	352;352;280;280	ENSP00000440982:V352M;ENSP00000417895:V352M;ENSP00000419967:V280M;ENSP00000303968:V280M	ENSP00000303968:V280M	V	-	1	0	RASA4B	101923609	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.925000	0.63425	0.541000	0.28827	-0.556000	0.04195	GTG		0.542	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000059600.6	XM_003118600		4	52	0	0	0	1	0	4	52				
TTLL12	23170	broad.mit.edu	37	22	43567862	43567862	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr22:43567862G>A	ENST00000216129.6	-	11	1601	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	513	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GTTCATGACCGTGAAGTGCTT	0.587																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(1537-1539)aCg>aTg		tubulin tyrosine ligase-like family, member 12							154.0	108.0	124.0					22																	43567862		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43567862G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1538C>T	22.37:g.43567862G>A	ENSP00000216129:p.Thr513Met						p.T513M	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			11	1601	-		Ovarian(80;0.221)|Glioma(61;0.222)	513			TTL.		Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.1538C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552069	0.86127	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.15718	2.4	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66972	-0.5788	10	0.87932	D	0	-9.935	17.7619	0.88467	0.0:0.0:1.0:0.0	.	513;513	B1AH89;Q14166	.;TTL12_HUMAN	M	513	ENSP00000216129:T513M	ENSP00000216129:T513M	T	-	2	0	TTLL12	41897806	1.000000	0.71417	0.977000	0.42913	0.785000	0.44390	8.575000	0.90766	2.648000	0.89879	0.655000	0.94253	ACG		0.587	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		3	47	0	0	0	1	0	3	47				
KDM5B	10765	broad.mit.edu	37	1	202700150	202700150	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:202700150G>A	ENST00000367265.3	-	25	5227	c.4063C>T	c.(4063-4065)Ctg>Ttg	p.L1355L	KDM5B_ENST00000367264.2_Silent_p.L1391L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1355					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACCTGGAGCAGCTGGGCTTCC	0.448																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4063-4065)Ctg>Ttg		lysine (K)-specific demethylase 5B							90.0	82.0	85.0					1																	202700150		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202700150G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4063C>T	1.37:g.202700150G>A						KDM5B_ENST00000367264.2_Silent_p.L1391L	p.L1355L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			25	5227	-			1355					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.4063C>T	CCDS30974.1																																																																																				0.448	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		3	39	0	0	0	1	0	3	39				
BPIFA1	51297	broad.mit.edu	37	20	31825987	31825987	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr20:31825987C>T	ENST00000354297.4	+	3	358	c.287C>T	c.(286-288)aCg>aTg	p.T96M	BPIFA1_ENST00000375422.2_Missense_Mutation_p.T96M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.T96M	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	96					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.T96M(1)									GGAAAAGTGACGTCAGTGATT	0.537																																						ENST00000354297.4																			1	Substitution - Missense(1)	p.T96M(1)	large_intestine(1)								c.(286-288)aCg>aTg		BPI fold containing family A, member 1							86.0	79.0	81.0					20																	31825987		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825987C>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.287C>T	20.37:g.31825987C>T	ENSP00000346251:p.Thr96Met					BPIFA1_ENST00000375422.2_Missense_Mutation_p.T96M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.T96M	p.T96M	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			3	358	+			96					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.287C>T	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544359	0.27563	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.12361	2.69;2.69;2.69	5.34	2.28	0.28536	.	0.503596	0.20012	N	0.101084	T	0.18882	0.0453	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.55667	0.781	T	0.04870	-1.0921	10	0.40728	T	0.16	-1.3225	5.0252	0.14381	0.1666:0.657:0.0:0.1764	.	96	Q9NP55	BPIA1_HUMAN	M	96;96;96;82	ENSP00000364571:T96M;ENSP00000346251:T96M;ENSP00000364562:T96M	ENSP00000346251:T96M	T	+	2	0	BPIFA1	31289648	0.001000	0.12720	0.204000	0.23530	0.008000	0.06430	-0.057000	0.11768	0.808000	0.34231	0.655000	0.94253	ACG		0.537	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		21	46	0	0	0	1	0	21	46				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	42	0	0	0	1	0	5	42				
MARCH4	57574	broad.mit.edu	37	2	217124370	217124370	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr2:217124370G>A	ENST00000273067.4	-	4	2664	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	300						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTAAAGATGCGGTACACCGAG	0.537																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(898-900)Cgc>Tgc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							68.0	59.0	62.0					2																	217124370		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124370G>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.898C>T	2.37:g.217124370G>A	ENSP00000273067:p.Arg300Cys					AC012513.6_ENST00000417481.1_RNA	p.R300C	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2664	-		Renal(323;0.0854)	300					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.898C>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498448	0.85069	.	.	ENSG00000144583	ENST00000273067	T	0.60797	0.16	4.97	4.97	0.65823	.	0.104769	0.64402	D	0.000002	T	0.75034	0.3795	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78056	-0.2353	10	0.87932	D	0	-13.8759	17.587	0.87984	0.0:0.0:1.0:0.0	.	300	Q9P2E8	MARH4_HUMAN	C	300	ENSP00000273067:R300C	ENSP00000273067:R300C	R	-	1	0	MARCH4	216832615	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.820000	0.86633	2.473000	0.83533	0.561000	0.74099	CGC		0.537	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		11	18	0	0	0	1	0	11	18				
PAPPA2	60676	broad.mit.edu	37	1	176675578	176675578	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:176675578A>G	ENST00000367662.3	+	10	4613	c.3449A>G	c.(3448-3450)aAc>aGc	p.N1150S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1150					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGGTTTCAACTGTGTAGGT	0.423																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3448-3450)aAc>aGc		pappalysin 2							213.0	217.0	216.0					1																	176675578		1944	4153	6097	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176675578A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3449A>G	1.37:g.176675578A>G	ENSP00000356634:p.Asn1150Ser						p.N1150S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			10	4613	+			1150					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3449A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943844	0.34283	.	.	ENSG00000116183	ENST00000367662	T	0.44083	0.93	5.65	5.65	0.86999	.	0.247504	0.46442	D	0.000289	T	0.35248	0.0925	L	0.42632	1.34	0.80722	D	1	B	0.33494	0.414	B	0.31245	0.126	T	0.22906	-1.0203	10	0.52906	T	0.07	-6.7061	11.542	0.50672	0.8505:0.1495:0.0:0.0	.	1150	Q9BXP8	PAPP2_HUMAN	S	1150	ENSP00000356634:N1150S	ENSP00000356634:N1150S	N	+	2	0	PAPPA2	174942201	1.000000	0.71417	0.998000	0.56505	0.227000	0.25037	3.875000	0.56108	2.149000	0.67028	0.533000	0.62120	AAC		0.423	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			8	10	0	0	0	1	0	8	10				
ZNF79	7633	broad.mit.edu	37	9	130197489	130197489	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:130197489C>T	ENST00000342483.5	+	3	632	c.226C>T	c.(226-228)Cta>Tta	p.L76L	ZNF79_ENST00000543471.1_Silent_p.L52L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGCCTTGTCCTACTAGGTAA	0.478																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(226-228)Cta>Tta		zinc finger protein 79							91.0	89.0	90.0					9																	130197489		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130197489C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.226C>T	9.37:g.130197489C>T						ZNF79_ENST00000543471.1_Silent_p.L52L	p.L76L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			3	632	+			76			KRAB.		Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.226C>T	CCDS6871.1																																																																																				0.478	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		4	32	0	0	0	1	0	4	32				
KLHL42	57542	broad.mit.edu	37	12	27933767	27933767	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr12:27933767C>T	ENST00000381271.2	+	1	815	c.504C>T	c.(502-504)ctC>ctT	p.L168L	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	168					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGTTCCACCTCCTGGGGTCTC	0.672																																						ENST00000381271.2																			0											c.(502-504)ctC>ctT		kelch-like family member 42							43.0	47.0	46.0					12																	27933767		2203	4300	6503	SO:0001819	synonymous_variant	57542							g.chr12:27933767C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.504C>T	12.37:g.27933767C>T						RP11-860B13.1_ENST00000545904.1_RNA	p.L168L	NM_020782.1	NP_065833.1					1	815	+								Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.504C>T	CCDS31763.1																																																																																				0.672	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		21	25	0	0	0	1	0	21	25				
OR52M1	119772	broad.mit.edu	37	11	4567013	4567013	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr11:4567013A>G	ENST00000360213.1	+	1	593	c.593A>G	c.(592-594)aAt>aGt	p.N198S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGGTCAATAATGTCTAT	0.512																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(592-594)aAt>aGt		olfactory receptor, family 52, subfamily M, member 1							226.0	212.0	217.0					11																	4567013		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567013A>G	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.593A>G	11.37:g.4567013A>G	ENSP00000353343:p.Asn198Ser						p.N198S	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	593	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	198						Missense_Mutation	SNP	ENST00000360213.1	37	c.593A>G	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	8.695	0.908443	0.17833	.	.	ENSG00000197790	ENST00000360213	T	0.00211	8.54	5.01	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.00241	0.0007	M	0.71206	2.165	0.34423	D	0.697646	B	0.24258	0.1	B	0.29176	0.099	T	0.48790	-0.9004	10	0.72032	D	0.01	.	7.5066	0.27549	0.8613:0.0:0.1387:0.0	.	198	Q8NGK5	O52M1_HUMAN	S	198	ENSP00000353343:N198S	ENSP00000353343:N198S	N	+	2	0	OR52M1	4523589	0.002000	0.14202	0.998000	0.56505	0.038000	0.13279	0.423000	0.21313	2.233000	0.73108	0.528000	0.53228	AAT		0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		6	88	0	0	0	1	0	6	88				
CNTNAP3B	728577	broad.mit.edu	37	9	43816717	43816717	+	Missense_Mutation	SNP	G	G	A	rs201844561	byFrequency	TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:43816717G>A	ENST00000377564.3	+	6	1216	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.V275I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	275	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGGCATTCCGTCCTCATCGA	0.493																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(823-825)Gtc>Atc		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43816717G>A	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.823G>A	9.37:g.43816717G>A	ENSP00000366787:p.Val275Ile					CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.V275I	p.V275I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			6	1216	+			275			Laminin G-like 1.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.823G>A	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726335	0.69074	.	.	ENSG00000154529	ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	D;D	0.84146	-1.81;-1.81	2.77	0.721	0.18219	.	.	.	.	.	D	0.87148	0.6105	M	0.81497	2.545	0.24520	N	0.994169	.	.	.	.	.	.	T	0.78685	-0.2108	7	0.66056	D	0.02	.	6.2273	0.20716	0.1159:0.1891:0.695:0.0	.	.	.	.	I	275	ENSP00000366787:V275I;ENSP00000276974:V275I	ENSP00000276974:V275I	V	+	1	0	CNTNAP3B	43756713	1.000000	0.71417	0.076000	0.20297	0.589000	0.36550	3.492000	0.53259	0.052000	0.16007	0.413000	0.27773	GTC		0.493	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	39	0	0	0	1	0	3	39				
CACNA1G	8913	broad.mit.edu	37	17	48650206	48650206	+	Silent	SNP	C	C	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:48650206C>A	ENST00000359106.5	+	6	1038	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	CACNA1G_ENST00000515765.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000515411.1_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A|CACNA1G_ENST00000352832.5_Silent_p.A346A|CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	346					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGATCGCCATCTTCCAGG	0.617																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1036-1038)gcC>gcA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						59.0	64.0	62.0					17																	48650206		2024	4158	6182	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650206C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1038C>A	17.37:g.48650206C>A						CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000359106.5_Silent_p.A346A|CACNA1G_ENST00000515411.1_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A|CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A|CACNA1G_ENST00000515765.1_Silent_p.A346A	p.A346A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1410	+	Breast(11;6.7e-17)		346					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.1038C>A	CCDS45730.1																																																																																				0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	33	1	0	5.50884e-06	1	5.50884e-06	12	33				
ARID2	196528	broad.mit.edu	37	12	46245245	46245245	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr12:46245245G>A	ENST00000334344.6	+	15	3511	c.3339G>A	c.(3337-3339)ggG>ggA	p.G1113G	ARID2_ENST00000444670.1_Silent_p.G723G|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Silent_p.G964G|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1113	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGTGCAGGGGCAAACTCCAG	0.542			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3337-3339)ggG>ggA		AT rich interactive domain 2 (ARID, RFX-like)							74.0	71.0	72.0					12																	46245245		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245245G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3339G>A	12.37:g.46245245G>A						ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G723G|ARID2_ENST00000422737.1_Silent_p.G964G	p.G1113G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3511	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1113			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.3339G>A	CCDS31783.1																																																																																				0.542	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		3	51	0	0	0	1	0	3	51				
TBC1D3	729873	broad.mit.edu	37	17	36357265	36357265	+	5'UTR	SNP	C	C	T	rs200062385	byFrequency	TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:36357265C>T	ENST00000537432.1	-	0	49				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.A330T			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAAGCAATGCAGTCTCCCTA	0.378																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(988-990)Gca>Aca																																						SO:0001623	5_prime_UTR_variant	0							g.chr17:36357265C>T		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.-440G>A	17.37:g.36357265C>T						TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T	p.A330T							9	987	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.988G>A	CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.748450|1.748450	0.30955|0.30955	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|.	0.04706|.	3.57;3.57;3.57;3.57|.	2.83|2.83	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.67739|0.67739	0.2925|0.2925	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67887|0.67887	-0.5554|-0.5554	6|4	0.22706|.	T|.	0.39|.	.|.	13.7008|13.7008	0.62608|0.62608	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|Y	175;330;330;326|285	ENSP00000444117:A175T;ENSP00000428261:A330T;ENSP00000308540:A330T;ENSP00000428330:A326T|.	ENSP00000308540:A330T|.	A|C	-|-	1|2	0|0	RP11-1407O15.2|RP11-1407O15.2	33611060|33611060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	7.593000|7.593000	0.82686|0.82686	1.579000|1.579000	0.49836|0.49836	0.194000|0.194000	0.17425|0.17425	GCA|TGC		0.378	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		5	14	0	0	0	1	0	5	14				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	62	0	0	0	1	0	4	62				
NF1	4763	broad.mit.edu	37	17	29657338	29657338	+	Nonsense_Mutation	SNP	T	T	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29657338T>A	ENST00000358273.4	+	39	6017	c.5634T>A	c.(5632-5634)tgT>tgA	p.C1878*	NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1878					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.?(3)	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)		ATCTTCTGTGTGCCTTAACTT	0.338			"""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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(5632-5634)tgT>tgA		neurofibromin 1							97.0	94.0	95.0					17																	29657338		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29657338T>A		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.5634T>A	17.37:g.29657338T>A	ENSP00000351015:p.Cys1878*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857*|NF1_ENST00000581113.2_3'UTR	p.C1878*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	39	6017	+		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)	1878					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5634T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	45	11.401226	0.99556	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9706	0.71232	0.0:0.0:0.0:1.0	.	.	.	.	X	1878;1857;1523	.	ENSP00000348498:C1857X	C	+	3	2	NF1	26681464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.813000	0.62620	2.123000	0.65237	0.528000	0.53228	TGT		0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	33	0	0	0	1	0	20	33				
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																						ENST00000285718.7																			5	Substitution - coding silent(5)	p.P304P(5)	kidney(3)|endometrium(2)																																																653440							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						WASH6P_ENST00000461007.1_RNA								0	819	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	9	0	0	0	1	0	3	9				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	38	0	0	0	1	0	5	38				
RDH8	50700	broad.mit.edu	37	19	10132233	10132233	+	Silent	SNP	G	G	A	rs181170344		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:10132233G>A	ENST00000171214.1	+	6	993	c.744G>A	c.(742-744)tcG>tcA	p.S248S	RDH8_ENST00000591589.1_Silent_p.S268S	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	248					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCATCAGCTCGACTCGACCAC	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16831	0.0		0.0	False		,,,				2504	0.0					ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(802-804)tcG>tcA		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						88.0	80.0	83.0					19																	10132233		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10132233G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.744G>A	19.37:g.10132233G>A						RDH8_ENST00000171214.1_Silent_p.S248S	p.S268S			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		6	993	+			248					Q9H838	Silent	SNP	ENST00000171214.1	37	c.804G>A																																																																																					0.632	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	32	0	0	0	1	0	3	32				
RYR1	6261	broad.mit.edu	37	19	39026679	39026679	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:39026679G>C	ENST00000359596.3	+	82	11559	c.11559G>C	c.(11557-11559)gaG>gaC	p.E3853D	RYR1_ENST00000355481.4_Missense_Mutation_p.E3848D|AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3853					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACAAGGCCGAGGGGCTGGGCA	0.577																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(11542-11544)gaG>gaC		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						131.0	115.0	121.0					19																	39026679		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39026679G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11559G>C	19.37:g.39026679G>C	ENSP00000352608:p.Glu3853Asp					AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.E3853D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D	p.E3848D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		81	11675	+	all_cancers(60;7.91e-06)		3853					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11544G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286146	0.23478	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91792	-2.91;-2.91;-2.91	4.38	1.01	0.19927	.	0.000000	0.64402	U	0.000002	D	0.94785	0.8316	M	0.83483	2.645	0.35816	D	0.824231	D;D;D	0.67145	0.996;0.996;0.994	D;D;D	0.76071	0.987;0.987;0.97	D	0.93914	0.7199	10	0.87932	D	0	.	7.0499	0.25067	0.4704:0.0:0.5296:0.0	.	3853;3848;3853	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3853;3848;3853	ENSP00000352608:E3853D;ENSP00000347667:E3848D;ENSP00000354254:E3853D	ENSP00000347667:E3848D	E	+	3	2	RYR1	43718519	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.441000	0.21611	0.124000	0.18369	0.655000	0.94253	GAG		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	10	0	0	0	1	0	11	10				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	59	0	0	0	1	0	3	59				
FOCAD	54914	broad.mit.edu	37	9	20933055	20933055	+	Silent	SNP	G	G	A	rs149998482		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:20933055G>A	ENST00000380249.1	+	30	3724	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	FOCAD_ENST00000605086.1_Silent_p.S556S|FOCAD_ENST00000338382.6_Silent_p.S1120S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1120						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGATGAAGTCGTTGGATGCCC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16558	0.0		0.001	False		,,,				2504	0.0					ENST00000380249.1																			0											c.(3358-3360)tcG>tcA		focadhesin		G		0,4406		0,0,2203	197.0	178.0	184.0		3360	-2.5	1.0	9	dbSNP_134	184	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	KIAA1797	NM_017794.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		1120/1802	20933055	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20933055G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3360G>A	9.37:g.20933055G>A						FOCAD_ENST00000605086.1_Silent_p.S556S|FOCAD_ENST00000338382.6_Silent_p.S1120S	p.S1120S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			30	3724	+			1120					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.3360G>A	CCDS34993.1																																																																																				0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		15	74	0	0	0	1	0	15	74				
ZNF564	163050	broad.mit.edu	37	19	12638192	12638192	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:12638192T>C	ENST00000339282.7	-	4	926	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCCTAATCATGTGTCTTTGA	0.388																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(730-732)Atg>Gtg		zinc finger protein 564							83.0	92.0	89.0					19																	12638192		2175	4295	6470	SO:0001583	missense	163050							g.chr19:12638192T>C	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.730A>G	19.37:g.12638192T>C	ENSP00000340004:p.Met244Val					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.M244V	NM_144976.3	NP_659413.1					4	926	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.730A>G	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604332	0.28534	.	.	ENSG00000249709	ENST00000339282	T	0.18960	2.18	1.57	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.11673	0.155	0.09310	N	0.999999	B	0.23591	0.088	B	0.36608	0.229	T	0.44574	-0.9319	9	0.66056	D	0.02	.	5.1631	0.15071	0.0:0.1761:0.4708:0.3531	.	244	Q8TBZ8	ZN564_HUMAN	V	244	ENSP00000340004:M244V	ENSP00000340004:M244V	M	-	1	0	ZNF564	12499192	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-2.132000	0.01309	-0.779000	0.04560	0.448000	0.29417	ATG		0.388	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		19	92	0	0	0	1	0	19	92				
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701																																						ENST00000388820.4																			4	Substitution - coding silent(4)	p.C1646C(4)	prostate(2)|lung(1)|kidney(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4936-4938)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							10.0	11.0	11.0					15																	79051886		2150	4223	6373	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051886G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4938C>T	15.37:g.79051886G>A							p.C1646C	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			24	5148	-			1646			PLAC.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4938C>T	CCDS32303.1																																																																																				0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	19	0	0	0	1	0	3	19				
ANKRD28	23243	broad.mit.edu	37	3	15755112	15755113	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr3:15755112_15755113insT	ENST00000399451.2	-	10	1388_1389	c.1021_1022insA	c.(1021-1023)accfs	p.T341fs	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.T374fs	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	341						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTGCAAAGGGGTATTTCCATTC	0.441																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1021-1023)cccfs		ankyrin repeat domain 28																																				SO:0001589	frameshift_variant	23243					nucleoplasm	protein binding	g.chr3:15755112_15755113insT	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1022dupA	3.37:g.15755113_15755113dupT	ENSP00000382379:p.Thr341fs					ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.P374fs|ANKRD28_ENST00000497037.1_5'UTR	p.P341fs	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			10	1388_1389	-			341					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Frame_Shift_Ins	INS	ENST00000399451.2	37	c.1021_1022insA	CCDS46769.1																																																																																				0.441	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		16	111						16	111	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30545854	30545854	+	Splice_Site	DEL	A	A	-	rs555740367		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr6:30545854delA	ENST00000326195.8	+	4	330	c.218delA	c.(217-219)caa>ca	p.Q73fs	ABCF1_ENST00000376545.3_Splice_Site_p.Q73fs|ABCF1_ENST00000396515.4_Splice_Site_p.Q73fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCTCAGCAGCAAAAAAAAAAG	0.493																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.e4-1		ATP-binding cassette, sub-family F (GCN20), member 1			,	66,405,3793		0,0,66,1,403,1662	64.0	70.0	68.0		,	5.5	1.0	6		71	105,634,7515		0,1,104,0,633,3389	no	codingComplex-near-splice,codingComplex-near-splice	ABCF1	NM_001090.2,NM_001025091.1	,	0,1,170,1,1036,5051	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9532,11.046,9.6661	,	,	30545854	171,1039,11308	2203	4300	6503	SO:0001630	splice_region_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30545854delA	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.217-1A>-	6.37:g.30545854delA						ABCF1_ENST00000396515.4_Splice_Site_p.Q73_splice|ABCF1_ENST00000376545.3_Splice_Site_p.Q73_splice	p.Q73_splice	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			4	330	+			73					A2BF75|O14897|Q69YP6	Splice_Site	DEL	ENST00000326195.8	37	c.216_splice	CCDS34380.1																																																																																				0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		Frame_Shift_Del	9	73						9	73	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29576062	29576077	+	Frame_Shift_Del	DEL	GTTCTTCCATGCCATC	GTTCTTCCATGCCATC	-			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29576062_29576077delGTTCTTCCATGCCATC	ENST00000358273.4	+	30	4418_4433	c.4035_4050delGTTCTTCCATGCCATC	c.(4033-4050)aagttcttccatgccatcfs	p.KFFHAI1345fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1345	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)	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)		TGACTGAAAAGTTCTTCCATGCCATCATCAGTTCCT	0.384			"""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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	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	GRCh37	CI040953	NF1	I		c.(4033-4050)aafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576062_29576077delGTTCTTCCATGCCATC		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.4035_4050delGTTCTTCCATGCCATC	17.37:g.29576062_29576077delGTTCTTCCATGCCATC	ENSP00000351015:p.Lys1345fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs	p.KFFHAI1345fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	30	4418_4433	+		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)	1345			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4035_4050delGTTCTTCCATGCCATC	CCDS42292.1																																																																																				0.384	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	83						15	83	---	---	---	---
