#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
USH1C	10083	broad.mit.edu	37	11	17531092	17531092	+	Intron	SNP	C	C	G	rs201101932		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr11:17531092C>G	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Silent_p.P608P|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAACGGATGGCGGGGGAGGGA	0.662																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1822-1824)ccG>ccC		Usher syndrome 1C (autosomal recessive, severe)							21.0	23.0	23.0					11																	17531092		2200	4292	6492	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531092C>G	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7565G>C	11.37:g.17531092C>G						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	p.P608P	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1823	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1824G>C	CCDS31438.1																																																																																				0.662	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		6	32	0	0	0	1	0	6	32				
NPSR1	387129	broad.mit.edu	37	7	34698077	34698077	+	Missense_Mutation	SNP	C	C	T	rs149663215	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:34698077C>T	ENST00000360581.1	+	1	181	c.53C>T	c.(52-54)aCg>aTg	p.T18M	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000465305.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381539.3_Missense_Mutation_p.T18M|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381553.3_Missense_Mutation_p.T18M|NPSR1_ENST00000531252.1_Missense_Mutation_p.T18M|NPSR1_ENST00000359791.1_Missense_Mutation_p.T18M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	18						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCGGGCAGACGCTGGATTCT	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.0					ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(52-54)aCg>aTg		neuropeptide S receptor 1	Halothane(DB01159)	C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	100.0	92.0	94.0		53,53	0.1	0.0	7	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NPSR1	NM_207172.1,NM_207173.1	81,81	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	benign,benign	18/372,18/378	34698077	4,13002	2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34698077C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.53C>T	7.37:g.34698077C>T	ENSP00000353788:p.Thr18Met					AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.T18M|NPSR1_ENST00000465305.1_Missense_Mutation_p.T18M|NPSR1_ENST00000531252.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381542.1_Missense_Mutation_p.T18M|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Missense_Mutation_p.T18M|NPSR1_ENST00000359791.1_Missense_Mutation_p.T18M	p.T18M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			1	181	+			18					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.53C>T	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578291	0.03854	4.54E-4	2.33E-4	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.39	0.118	0.14667	.	0.576754	0.16289	N	0.220992	T	0.13200	0.0320	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B	0.23185	0.081;0.013;0.011;0.013;0.029;0.017	B;B;B;B;B;B	0.14023	0.007;0.01;0.01;0.01;0.01;0.006	T	0.21930	-1.0231	10	0.25751	T	0.34	-0.986	5.4874	0.16757	0.0:0.5415:0.1478:0.3107	.	18;18;18;18;18;18	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	M	18	ENSP00000370965:T18M;ENSP00000434955:T18M;ENSP00000353788:T18M;ENSP00000370953:T18M;ENSP00000352839:T18M;ENSP00000433258:T18M;ENSP00000370950:T18M	ENSP00000352839:T18M	T	+	2	0	NPSR1	34664602	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.220000	0.09215	-0.335000	0.08451	-1.134000	0.01955	ACG		0.542	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		18	50	0	0	0	1	0	18	50				
CYFIP1	23191	broad.mit.edu	37	15	22956381	22956381	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr15:22956381A>T	ENST00000435939.2	+	1	627	c.325A>T	c.(325-327)Ata>Tta	p.I109L	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGAGTTTGGCATAACTAATGT	0.532																																						ENST00000435939.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(325-327)Ata>Tta		cytoplasmic FMR1 interacting protein 1							58.0	63.0	61.0					15																	22956381		1327	2309	3636	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22956381A>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000435939.2:c.325A>T	15.37:g.22956381A>T	ENSP00000405956:p.Ile109Leu					CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	p.I109L	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	1	627	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	0						Missense_Mutation	SNP	ENST00000435939.2	37	c.325A>T	CCDS45189.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334535	0.24253	.	.	ENSG00000068793	ENST00000435939	T	0.32023	1.47	5.6	-5.76	0.02376	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	8	0.27082	T	0.32	.	2.7817	0.05362	0.5331:0.1022:0.2031:0.1616	.	109	Q7L576-2	.	L	109	ENSP00000405956:I109L	ENSP00000405956:I109L	I	+	1	0	CYFIP1	20507822	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.665000	0.05286	-0.683000	0.05190	-0.230000	0.12252	ATA		0.532	CYFIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415634.1	NM_014608		10	47	0	0	0	1	0	10	47				
ZNF716	441234	broad.mit.edu	37	7	57529392	57529392	+	Missense_Mutation	SNP	A	A	C	rs13235676	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:57529392A>C	ENST00000420713.1	+	4	1337	c.1225A>C	c.(1225-1227)Aaa>Caa	p.K409Q		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	409					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)|kidney(1)|lung(20)|ovary(2)	24						GAAACCCTACAAATGTGAAGA	0.403													a|||	2109	0.421126	0.3215	0.4798	5008	,	,		20228	0.5397		0.3797	False		,,,				2504	0.4346					ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(1225-1227)Aaa>Caa		zinc finger protein 716		A	GLN/LYS	479,905		82,315,295	27.0	27.0	27.0		1225	0.2	0.2	7	dbSNP_121	27	1251,1931		247,757,587	no	missense	ZNF716	NM_001159279.1	53	329,1072,882	CC,CA,AA		39.3149,34.6098,37.8887	benign	409/496	57529392	1730,2836	692	1591	2283	SO:0001583	missense	441234							g.chr7:57529392A>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1225A>C	7.37:g.57529392A>C	ENSP00000394248:p.Lys409Gln						p.K409Q	NM_001159279.1	NP_001152751.1					4	1337	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.1225A>C	CCDS55112.1	906	0.41483516483516486	162	0.32926829268292684	158	0.43646408839779005	307	0.5367132867132867	279	0.36807387862796836	A	7.864	0.726705	0.15439	0.346098	0.393149	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.18810	2.19	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	L	0.55743	1.74	0.52501	P	4.4000000000044004E-5	B	0.33299	0.407	B	0.30716	0.119	T	0.43750	-0.9372	8	0.49607	T	0.09	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	rs13235676	397	A6NP11	ZN716_HUMAN	Q	409;397	ENSP00000394248:K409Q	ENSP00000387687:K397Q	K	+	1	0	ZNF716	57533334	0.000000	0.05858	0.190000	0.23270	0.191000	0.23601	-2.138000	0.01303	0.257000	0.21650	0.254000	0.18369	AAA		0.403	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		4	45	0	0	0	1	0	4	45				
OR7E91P	79315	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T	rs372003181	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527													-|||	3	0.000599042	0.0008	0.0014	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.001					ENST00000434990.1																			0																																																			0							g.chr2:71256928A>T																													2.37:g.71256928A>T														0	61	-									RNA	SNP	ENST00000434990.1	37																																																																																						0.527	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4			3	28	0	0	0	1	0	3	28				
FER1L6	654463	broad.mit.edu	37	8	125132009	125132009	+	Missense_Mutation	SNP	G	G	A	rs182687634	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr8:125132009G>A	ENST00000522917.1	+	41	5758	c.5552G>A	c.(5551-5553)cGa>cAa	p.R1851Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1851Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1851						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCATCAGCCGAAGGATCGTT	0.453													G|||	7	0.00139776	0.0	0.0086	5008	,	,		20313	0.0		0.001	False		,,,				2504	0.0					ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5551-5553)cGa>cAa		fer-1-like 6 (C. elegans)		G	GLN/ARG	2,4064		0,2,2031	170.0	178.0	175.0		5552	4.2	1.0	8		175	13,8359		0,13,4173	yes	missense	FER1L6	NM_001039112.2	43	0,15,6204	AA,AG,GG		0.1553,0.0492,0.1206	benign	1851/1858	125132009	15,12423	2033	4186	6219	SO:0001583	missense	654463					integral to membrane		g.chr8:125132009G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5552G>A	8.37:g.125132009G>A	ENSP00000428280:p.Arg1851Gln					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1851Q	p.R1851Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		41	5758	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1851						Missense_Mutation	SNP	ENST00000522917.1	37	c.5552G>A	CCDS43767.1	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	12.87	2.067555	0.36470	4.92E-4	0.001553	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80480	-1.38;-1.38	6.03	4.24	0.50183	.	1.303970	0.05193	N	0.503432	T	0.51753	0.1693	N	0.01874	-0.695	0.33087	D	0.537383	B	0.06786	0.001	B	0.06405	0.002	T	0.53041	-0.8494	10	0.22109	T	0.4	-1.2706	9.4704	0.38839	0.2656:0.0:0.7344:0.0	.	1851	Q2WGJ9	FR1L6_HUMAN	Q	1851	ENSP00000428280:R1851Q;ENSP00000381982:R1851Q	ENSP00000381982:R1851Q	R	+	2	0	FER1L6	125201190	0.334000	0.24739	0.987000	0.45799	0.861000	0.49209	1.209000	0.32357	1.566000	0.49654	0.655000	0.94253	CGA		0.453	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		7	113	0	0	0	1	0	7	113				
ARMC4P1	101060171	broad.mit.edu	37	10	27577615	27577615	+	RNA	SNP	T	T	G	rs11015640	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr10:27577615T>G	ENST00000576034.1	+	0	505									armadillo repeat containing 4 pseudogene 1																		GGAAGAGTGCTGAAAAGATTG	0.423													T|||	1888	0.376997	0.2799	0.3559	5008	,	,		21158	0.3958		0.4314	False		,,,				2504	0.4479					ENST00000576034.1																			0																																																			0							g.chr10:27577615T>G			10p12.1	2012-12-19			ENSG00000238021	ENSG00000238021			44937	pseudogene	pseudogene							Standard	XM_006709935		Approved				OTTHUMG00000017856		10.37:g.27577615T>G														0	505	+									RNA	SNP	ENST00000576034.1	37																																																																																						0.423	ARMC4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436997.1			3	29	0	0	0	1	0	3	29				
UBQLN2	29978	broad.mit.edu	37	X	56592023	56592023	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:56592023C>T	ENST00000338222.5	+	1	1998	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	573					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCAAATGCTCCACAGCTGCC	0.517																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(1717-1719)Cca>Tca		ubiquilin 2							55.0	46.0	49.0					X																	56592023		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56592023C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1717C>T	X.37:g.56592023C>T	ENSP00000345195:p.Pro573Ser						p.P573S	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	1998	+			573					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1717C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	2.282	-0.364482	0.05103	.	.	ENSG00000188021	ENST00000338222	T	0.40756	1.02	4.55	4.55	0.56014	.	0.178579	0.38959	N	0.001516	T	0.23014	0.0556	N	0.16567	0.415	0.29762	N	0.835495	B;B	0.14805	0.004;0.011	B;B	0.09377	0.004;0.004	T	0.11542	-1.0583	10	0.06757	T	0.87	-5.567	11.6655	0.51370	0.0:1.0:0.0:0.0	.	461;573	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	S	573	ENSP00000345195:P573S	ENSP00000345195:P573S	P	+	1	0	UBQLN2	56608748	0.994000	0.37717	1.000000	0.80357	0.781000	0.44180	0.826000	0.27407	2.235000	0.73313	0.594000	0.82650	CCA		0.517	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		12	44	0	0	0	1	0	12	44				
ABLIM3	22885	broad.mit.edu	37	5	148624541	148624541	+	Silent	SNP	G	G	A	rs563171577		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr5:148624541G>A	ENST00000506113.1	+	15	1931	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	ABLIM3_ENST00000356541.3_Silent_p.S372S|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000326685.7_Silent_p.S388S|ABLIM3_ENST00000508983.1_Silent_p.S450S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.S483S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Silent_p.S372S|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	483					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATGCTTCGGAGTCTGAGT	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18335	0.0		0.0	False		,,,				2504	0.0					ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1447-1449)tcG>tcA		actin binding LIM protein family, member 3							114.0	103.0	107.0					5																	148624541		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148624541G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1449G>A	5.37:g.148624541G>A						ABLIM3_ENST00000356541.3_Silent_p.S372S|ABLIM3_ENST00000504238.1_Silent_p.S372S|ABLIM3_ENST00000326685.7_Silent_p.S388S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'UTR|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Silent_p.S450S|ABLIM3_ENST00000309868.7_Silent_p.S483S|RP11-331K21.1_ENST00000522685.1_RNA	p.S483S			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1931	+			483					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.1449G>A	CCDS4294.1																																																																																				0.547	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		6	70	0	0	0	1	0	6	70				
NLRC4	58484	broad.mit.edu	37	2	32476199	32476199	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr2:32476199A>G	ENST00000404025.2	-	5	1222	c.734T>C	c.(733-735)tTc>tCc	p.F245S	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.F245S|NLRC4_ENST00000360906.5_Missense_Mutation_p.F245S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	245	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATCAAGAAGGAAAAGAACCCT	0.483																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(733-735)tTc>tCc		NLR family, CARD domain containing 4							92.0	93.0	93.0					2																	32476199		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476199A>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.734T>C	2.37:g.32476199A>G	ENSP00000385090:p.Phe245Ser					NLRC4_ENST00000402280.1_Missense_Mutation_p.F245S|NLRC4_ENST00000360906.5_Missense_Mutation_p.F245S|NLRC4_ENST00000342905.6_Intron	p.F245S			Q9NPP4	NLRC4_HUMAN			5	1222	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		245			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.734T>C	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951608	0.34471	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	D;D;D	0.81821	-1.54;-1.54;-1.54	3.27	3.27	0.37495	NACHT nucleoside triphosphatase (1);	0.000000	0.49305	D	0.000143	D	0.87313	0.6146	M	0.70595	2.14	0.34608	D	0.717244	D	0.76494	0.999	D	0.85130	0.997	D	0.90811	0.4701	9	0.87932	D	0	-11.8508	11.0079	0.47646	1.0:0.0:0.0:0.0	.	245	Q9NPP4	NLRC4_HUMAN	S	245	ENSP00000354159:F245S;ENSP00000385428:F245S;ENSP00000385090:F245S	ENSP00000354159:F245S	F	-	2	0	NLRC4	32329703	1.000000	0.71417	0.116000	0.21606	0.276000	0.26787	5.037000	0.64170	1.497000	0.48584	0.443000	0.29094	TTC		0.483	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		16	111	0	0	0	1	0	16	111				
ARHGEF15	22899	broad.mit.edu	37	17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T	rs200249246		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr17:8216353C>T	ENST00000361926.3	+	3	825	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	239					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R239C(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGGGTCCCCCGTCGGGCCTC	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		12765	0.001		0.0	False		,,,				2504	0.0					ENST00000361926.3																			1	Substitution - Missense(1)	p.R239C(1)	urinary_tract(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(715-717)Cgt>Tgt		Rho guanine nucleotide exchange factor (GEF) 15							47.0	58.0	54.0					17																	8216353		2203	4295	6498	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216353C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.715C>T	17.37:g.8216353C>T	ENSP00000355026:p.Arg239Cys					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	825	+			239					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.715C>T	CCDS11139.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.961	0.178488	0.09443	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.40476	1.03;1.03	4.05	1.82	0.25136	.	0.552963	0.18083	N	0.152253	T	0.13670	0.0331	N	0.01576	-0.805	0.31170	N	0.703266	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.38643	T	0.18	-11.9837	3.0629	0.06205	0.2093:0.1176:0.0:0.6731	.	239	O94989	ARHGF_HUMAN	C	239	ENSP00000355026:R239C;ENSP00000412505:R239C	ENSP00000355026:R239C	R	+	1	0	ARHGEF15	8157078	0.607000	0.26958	0.915000	0.36163	0.062000	0.15995	0.498000	0.22530	0.365000	0.24400	-0.367000	0.07326	CGT		0.706	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	147	0	0	0	1	0	10	147				
CHRDL1	91851	broad.mit.edu	37	X	109943904	109943904	+	Missense_Mutation	SNP	C	C	T	rs189640632		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:109943904C>T	ENST00000372045.1	-	7	697	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	CHRDL1_ENST00000482160.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R195Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R196Q|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000218054.4_Missense_Mutation_p.R195Q|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R195Q			Q9BU40	CRDL1_HUMAN	chordin-like 1	189					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGCAGGTTGCCGGAAGATATC	0.398													C|||	1	0.000264901	0.0	0.0	3775	,	,		14223	0.0		0.001	False		,,,				2504	0.0					ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(583-585)cGg>cAg		chordin-like 1		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	212.0	183.0	193.0		587,584,347,584	4.8	1.0	X		193	3,6725		0,3,2425,1872	yes	missense,missense,missense,missense	CHRDL1	NM_001143981.1,NM_001143982.1,NM_001143983.2,NM_145234.3	43,43,43,43	0,3,4057,2443	TT,TC,CC,C		0.0446,0.0,0.0284	probably-damaging,probably-damaging,probably-damaging,probably-damaging	196/459,195/458,116/379,195/457	109943904	3,10560	2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109943904C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.566G>A	X.37:g.109943904C>T	ENSP00000361115:p.Arg189Gln					CHRDL1_ENST00000444321.2_Missense_Mutation_p.R195Q|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R196Q|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R189Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R195Q	p.R195Q	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			7	780	-			189					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.584G>A		1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.4	3.977990	0.74360	0.0	4.46E-4	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.30448	2.28;1.54;2.28;2.28;2.54;1.53;2.28	4.75	4.75	0.60458	.	0.136602	0.47093	D	0.000255	T	0.42086	0.1187	L	0.27053	0.805	0.46356	D	0.999005	D;D;D;D;D;D	0.71674	0.998;0.997;0.997;0.997;0.997;0.997	D;D;D;D;D;D	0.70227	0.963;0.968;0.968;0.968;0.968;0.953	T	0.21827	-1.0234	9	.	.	.	-10.9729	17.6037	0.88032	0.0:1.0:0.0:0.0	.	116;195;175;189;196;116	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	Q	189;116;195;195;196;116;195	ENSP00000361115:R189Q;ENSP00000389627:R116Q;ENSP00000218054:R195Q;ENSP00000378276:R195Q;ENSP00000361112:R196Q;ENSP00000418443:R116Q;ENSP00000399739:R195Q	.	R	-	2	0	CHRDL1	109830560	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	5.409000	0.66374	2.282000	0.76494	0.544000	0.68410	CGG		0.398	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		4	54	0	0	0	1	0	4	54				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	39	0	0	0	1	0	6	39				
ZNF169	169841	broad.mit.edu	37	9	97062729	97062729	+	Nonsense_Mutation	SNP	C	C	T	rs145151490	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:97062729C>T	ENST00000395395.2	+	5	979	c.889C>T	c.(889-891)Cga>Tga	p.R297*	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	297					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(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGAATGTGGGCGACACTTCAG	0.562													C|||	2	0.000399361	0.0	0.0	5008	,	,		20375	0.0		0.002	False		,,,				2504	0.0					ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(889-891)Cga>Tga		zinc finger protein 169							91.0	92.0	92.0					9																	97062729		2203	4300	6503	SO:0001587	stop_gained	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062729C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.889C>T	9.37:g.97062729C>T	ENSP00000378792:p.Arg297*					ZNF169_ENST00000340911.4_3'UTR	p.R297*	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	979	+		Acute lymphoblastic leukemia(62;0.136)	297					A2AGP5|A8K127|Q6PI28	Nonsense_Mutation	SNP	ENST00000395395.2	37	c.889C>T	CCDS6709.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	13.37	2.216721	0.39201	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	.	.	.	2.83	-1.61	0.08399	.	.	.	.	.	.	.	.	.	.	.	0.37935	D	0.932125	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	3.4135	0.07366	0.506:0.2664:0.0:0.2276	.	.	.	.	X	297;106	.	ENSP00000340711:R106X	R	+	1	2	ZNF169	96102550	0.437000	0.25593	0.155000	0.22561	0.420000	0.31355	1.414000	0.34736	-0.358000	0.08162	-0.904000	0.02843	CGA		0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		23	79	0	0	0	1	0	23	79				
PDE4DIP	9659	broad.mit.edu	37	1	144854644	144854644	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr1:144854644C>T	ENST00000369354.3	-	42	7015	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E2412K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2361K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2276K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2170K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2276					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTCCCTTTCTGTTGATTCT	0.478			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7234-7236)Gaa>Aaa		phosphodiesterase 4D interacting protein							232.0	202.0	212.0					1																	144854644		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854644C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6826G>A	1.37:g.144854644C>T	ENSP00000358360:p.Glu2276Lys					PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2276K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2170K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2361K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2276K	p.E2412K			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	45	7272	-			2276					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7234G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	0.214	-1.033845	0.02029	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01215	5.16;5.26;5.23;5.23;5.24	4.0	-0.566	0.11767	.	.	.	.	.	T	0.00144	0.0004	N	0.01729	-0.75	0.20489	N	0.999898	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33701	-0.9858	9	0.02654	T	1	.	4.437	0.11555	0.0:0.4262:0.1771:0.3967	.	2170;2276	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	2170;2276;2276;2361;2412	ENSP00000327209:E2170K;ENSP00000358360:E2276K;ENSP00000358363:E2276K;ENSP00000435654:E2361K;ENSP00000358366:E2412K	ENSP00000327209:E2170K	E	-	1	0	PDE4DIP	143566001	0.007000	0.16637	0.014000	0.15608	0.695000	0.40330	-0.028000	0.12350	-0.038000	0.13624	0.442000	0.29010	GAA		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		23	152	0	0	0	1	0	23	152				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	32	0	0	0	1	0	9	32				
ARMC4P1	101060171	broad.mit.edu	37	10	27577640	27577640	+	RNA	SNP	G	G	T	rs3818746	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr10:27577640G>T	ENST00000576034.1	+	0	530									armadillo repeat containing 4 pseudogene 1																		AACTGTTAGCGATAGCTCCTC	0.403													G|||	1888	0.376997	0.2799	0.3559	5008	,	,		20661	0.3958		0.4314	False		,,,				2504	0.4479					ENST00000576034.1																			0																																																			0							g.chr10:27577640G>T			10p12.1	2012-12-19			ENSG00000238021	ENSG00000238021			44937	pseudogene	pseudogene							Standard	XM_006709935		Approved				OTTHUMG00000017856		10.37:g.27577640G>T														0	530	+									RNA	SNP	ENST00000576034.1	37																																																																																						0.403	ARMC4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436997.1			3	27	1	0	0.115264	1	0.115264	3	27				
ABCA2	20	broad.mit.edu	37	9	139915257	139915257	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:139915257T>C	ENST00000371605.3	-	8	1298	c.1151A>G	c.(1150-1152)gAg>gGg	p.E384G	ABCA2_ENST00000341511.6_Missense_Mutation_p.E385G|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.E385G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	384					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTGCGCCCTCCTCAGCGGT	0.716																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1153-1155)gAg>gGg		ATP-binding cassette, sub-family A (ABC1), member 2							7.0	8.0	8.0					9																	139915257		1986	4100	6086	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139915257T>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1151A>G	9.37:g.139915257T>C	ENSP00000360666:p.Glu384Gly					ABCA2_ENST00000341511.6_Missense_Mutation_p.E385G|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.E384G	p.E385G			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	9	1301	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	384					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1154A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.50|10.50	1.368041|1.368041	0.24771|0.24771	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511|ENST00000470535	D;D;D|.	0.88277|.	-2.36;-2.36;-2.36|.	4.71|4.71	3.48|3.48	0.39840|0.39840	.|.	797.280000|.	0.00805|.	U|.	0.001441|.	T|T	0.43456|0.43456	0.1248|0.1248	N|N	0.24115|0.24115	0.695|0.695	0.39079|0.39079	D|D	0.960878|0.960878	B;B;B|.	0.27498|.	0.18;0.001;0.18|.	B;B;B|.	0.16722|.	0.016;0.003;0.016|.	T|T	0.35699|0.35699	-0.9778|-0.9778	10|5	0.62326|.	D|.	0.03|.	.|.	10.9607|10.9607	0.47383|0.47383	0.0:0.0:0.1568:0.8432|0.0:0.0:0.1568:0.8432	.|.	384;414;415|.	Q9BZC7;E7EU84;E7ETC3|.	ABCA2_HUMAN;.;.|.	G|G	385;384;415;385|1	ENSP00000265662:E385G;ENSP00000360666:E384G;ENSP00000344155:E385G|.	ENSP00000265662:E385G|.	E|R	-|-	2|1	0|2	ABCA2|ABCA2	139035078|139035078	1.000000|1.000000	0.71417|0.71417	0.786000|0.786000	0.31890|0.31890	0.029000|0.029000	0.11900|0.11900	3.761000|3.761000	0.55242|0.55242	1.753000|1.753000	0.51906|0.51906	0.379000|0.379000	0.24179|0.24179	GAG|AGG		0.716	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	12	0	0	0	1	0	3	12				
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824|rs111811281|rs11080396		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr18:112402_112405delAACC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCCTGCCCCGAACCACCCGACCCC	0.711																																						ENST00000576266.1																			0																																																			0							g.chr18:112402_112405delAACC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112402_112405delAACC														0	36_39	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.711	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			6	5						6	5	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(22-27)ccc>c		sialic acid binding Ig-like lectin 8																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	89_91	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		7	139						7	139	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		5	6						5	6	---	---	---	---
