#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
PEX5	5830	broad.mit.edu	37	12	7343014	7343014	+	Missense_Mutation	SNP	C	C	G			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:7343014C>G	ENST00000455147.2	+	3	621	c.41C>G	c.(40-42)gCc>gGc	p.A14G	RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000420616.2_Missense_Mutation_p.A14G|PEX5_ENST00000434354.2_Missense_Mutation_p.A14G|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266564.3_Missense_Mutation_p.A14G|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000266563.5_Missense_Mutation_p.A14G|PEX5_ENST00000412720.2_Missense_Mutation_p.A35G	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	14					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGCGGGGGTGCCAACCCGCTC	0.667																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(40-42)gCc>gGc		peroxisomal biogenesis factor 5							59.0	65.0	63.0					12																	7343014		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7343014C>G	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.41C>G	12.37:g.7343014C>G	ENSP00000400647:p.Ala14Gly					PEX5_ENST00000545220.1_Intron|PEX5_ENST00000420616.2_Missense_Mutation_p.A14G|PEX5_ENST00000455147.2_Missense_Mutation_p.A14G|PEX5_ENST00000266564.3_Missense_Mutation_p.A14G|PEX5_ENST00000412720.2_Missense_Mutation_p.A35G|PEX5_ENST00000434354.2_Missense_Mutation_p.A14G	p.A14G	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			2	224	+			14					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.41C>G	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814335	0.70912	.	.	ENSG00000139197	ENST00000542539;ENST00000455147;ENST00000540398;ENST00000266563;ENST00000434354;ENST00000544456;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000536841;ENST00000537873;ENST00000266564	D;D;D;D;D;D;D	0.89343	-2.44;-2.5;-2.39;-2.44;-2.46;-2.27;-2.43	4.83	4.83	0.62350	.	0.058458	0.64402	D	0.000002	D	0.85699	0.5757	L	0.38175	1.15	0.42406	D	0.992587	P;B;P;P;P	0.40398	0.595;0.262;0.594;0.716;0.716	B;B;B;B;B	0.40066	0.192;0.146;0.219;0.318;0.234	D	0.87550	0.2464	10	0.56958	D	0.05	.	17.5413	0.87849	0.0:1.0:0.0:0.0	.	35;14;14;14;14	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	G	14;14;14;14;14;14;14;14;35;14;14;14;14	ENSP00000400647:A14G;ENSP00000266563:A14G;ENSP00000407401:A14G;ENSP00000410159:A14G;ENSP00000391601:A35G;ENSP00000379877:A14G;ENSP00000266564:A14G	ENSP00000266563:A14G	A	+	2	0	PEX5	7234281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.670000	0.74467	2.245000	0.73994	0.561000	0.74099	GCC		0.667	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		5	141	0	0	0	1	0	5	141				
DDX53	168400	broad.mit.edu	37	X	23019751	23019751	+	Missense_Mutation	SNP	T	T	C	rs145541868		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chrX:23019751T>C	ENST00000327968.5	+	1	1665	c.1577T>C	c.(1576-1578)aTa>aCa	p.I526T	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ACAACTGATATAGTATCCCGA	0.373																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(1576-1578)aTa>aCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53		T	THR/ILE	2,3833		0,2,0,1630,571	123.0	114.0	117.0		1577	1.9	0.0	X	dbSNP_134	117	1,6727		0,0,1,2428,1871	no	missense	DDX53	NM_182699.3	89	0,2,1,4058,2442	CC,CT,C,TT,T		0.0149,0.0522,0.0284	benign	526/632	23019751	3,10560	2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019751T>C	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1577T>C	X.37:g.23019751T>C	ENSP00000368667:p.Ile526Thr					RP11-40F8.2_ENST00000455399.1_RNA	p.I526T	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	1665	+			526			Helicase C-terminal.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1577T>C	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711684	0.30322	5.22E-4	1.49E-4	ENSG00000184735	ENST00000327968	T	0.77358	-1.09	4.32	1.86	0.25419	Helicase, C-terminal (3);	0.160946	0.41823	D	0.000810	T	0.77143	0.4087	M	0.84773	2.715	0.22142	N	0.999334	B	0.14438	0.01	B	0.25759	0.063	T	0.70296	-0.4911	10	0.87932	D	0	-17.436	6.7412	0.23437	0.0:0.2111:0.0:0.7889	.	526	Q86TM3	DDX53_HUMAN	T	526	ENSP00000368667:I526T	ENSP00000368667:I526T	I	+	2	0	DDX53	22929672	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	6.784000	0.75084	0.077000	0.16863	0.486000	0.48141	ATA		0.373	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		3	50	0	0	0	1	0	3	50				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	108	0	0	0	1	0	5	108				
RSPH6A	81492	broad.mit.edu	37	19	46308064	46308064	+	Missense_Mutation	SNP	C	C	T			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr19:46308064C>T	ENST00000221538.3	-	3	1241	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E103K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E367K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	367	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tctgcctcctcctcgccctcc	0.652																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1099-1101)Gag>Aag		radial spoke head 6 homolog A (Chlamydomonas)							80.0	66.0	71.0					19																	46308064		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46308064C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1099G>A	19.37:g.46308064C>T	ENSP00000221538:p.Glu367Lys					RSPH6A_ENST00000600188.1_Missense_Mutation_p.E103K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E367K	p.E367K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			3	1241	-			367			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1099G>A	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241610	0.79912	.	.	ENSG00000104941	ENST00000221538	T	0.17370	2.28	3.91	3.91	0.45181	.	0.320123	0.32533	N	0.005973	T	0.27629	0.0679	L	0.52905	1.665	0.45150	D	0.998166	P	0.51449	0.945	P	0.57468	0.821	T	0.02190	-1.1198	10	0.10636	T	0.68	-5.0786	14.2466	0.65993	0.0:1.0:0.0:0.0	.	367	Q9H0K4	RSH6A_HUMAN	K	367	ENSP00000221538:E367K	ENSP00000221538:E367K	E	-	1	0	RSPH6A	50999904	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.226000	0.78060	2.461000	0.83175	0.456000	0.33151	GAG		0.652	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			12	56	0	0	0	1	0	12	56				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		3	40	0	0	0	1	0	3	40				
NBPF8	728841	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C	rs375759831		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr1:144220807A>C	ENST00000369373.5	+	2	74	c.74A>C	c.(73-75)gAt>gCt	p.D25A				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	665						cytoplasm (GO:0005737)											GAGCTGCTGGATGAGAAAGAG	0.483																																						ENST00000369373.5																			0											c.(73-75)gAt>gCt		neuroblastoma breakpoint family, member 8																																				SO:0001583	missense	728841							g.chr1:144220807A>C	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.74A>C	1.37:g.144220807A>C	ENSP00000358380:p.Asp25Ala						p.D25A							2	74	+									Missense_Mutation	SNP	ENST00000369373.5	37	c.74A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.405|7.405	0.633647|0.633647	0.14322|0.14322	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.07021|.	3.23|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	0.80722|.	D|.	1.000000|.	P;.;B;B|.	0.52842|.	0.956;.;0.04;0.002|.	P;.;B;B|.	0.57502|.	0.822;.;0.074;0.015|.	T|.	0.29610|.	-1.0006|.	4|.	0.33940|.	T|.	0.23|.	.|.	.|.	.|.	.|.	.|.	431;598;373;440|.	Q5VTG8;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	A|L	25|3576	ENSP00000358380:D25A|.	ENSP00000358380:D25A|.	D|M	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932164|142932164	0.533000|0.533000	0.26354|0.26354	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAT|ATG		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	48	0	0	0	1	0	4	48				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	101	0	0	0	1	0	5	101				
TGFBI	7045	broad.mit.edu	37	5	135389735	135389735	+	Silent	SNP	G	G	A			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr5:135389735G>A	ENST00000442011.2	+	9	1391	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	TGFBI_ENST00000305126.8_Silent_p.L410L	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	410	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGAGCGGTTGACCCTCCTGG	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1228-1230)ttG>ttA		transforming growth factor, beta-induced, 68kDa							128.0	127.0	127.0					5																	135389735		1957	4155	6112	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135389735G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1230G>A	5.37:g.135389735G>A						TGFBI_ENST00000305126.8_Silent_p.L410L	p.L410L	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	1391	+			410			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.1230G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285912	0.23478	.	.	ENSG00000120708	ENST00000508767;ENST00000514554	.	.	.	6.08	3.18	0.36537	.	.	.	.	.	T	0.62660	0.2446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60347	-0.7281	4	.	.	.	-12.8199	12.3406	0.55091	0.0:0.2398:0.6356:0.1245	.	.	.	.	N	149;128	.	.	D	+	1	0	TGFBI	135417634	1.000000	0.71417	0.979000	0.43373	0.941000	0.58515	2.656000	0.46716	0.891000	0.36235	0.655000	0.94253	GAC		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			15	90	0	0	0	1	0	15	90				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	100	0	0	0	1	0	5	100				
NTN4	59277	broad.mit.edu	37	12	96180969	96180969	+	Missense_Mutation	SNP	A	A	C	rs368445088		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:96180969A>C	ENST00000343702.4	-	2	781	c.333T>G	c.(331-333)gaT>gaG	p.D111E	NTN4_ENST00000553059.1_Missense_Mutation_p.D111E|NTN4_ENST00000538383.1_Missense_Mutation_p.D74E|NTN4_ENST00000344911.4_Missense_Mutation_p.D74E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	111	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTCTGTGCACATCCTCCGCAG	0.542																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(331-333)gaT>gaG		netrin 4							115.0	102.0	106.0					12																	96180969		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180969A>C	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.333T>G	12.37:g.96180969A>C	ENSP00000340998:p.Asp111Glu					NTN4_ENST00000553059.1_Missense_Mutation_p.D111E|NTN4_ENST00000344911.4_Missense_Mutation_p.D74E|NTN4_ENST00000538383.1_Missense_Mutation_p.D74E	p.D111E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			2	781	-			111			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.333T>G	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847859	0.32606	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.54	1.83	0.25207	Laminin, N-terminal (3);	0.175681	0.50627	D	0.000108	T	0.61476	0.2350	L	0.53249	1.67	0.26849	N	0.968215	B;B	0.32526	0.374;0.07	B;B	0.32928	0.108;0.155	T	0.46020	-0.9221	10	0.13108	T	0.6	.	5.7374	0.18073	0.5578:0.2459:0.1963:0.0	.	111;111	Q9HB63-2;Q9HB63	.;NET4_HUMAN	E	111;74;74;111;74	ENSP00000340998:D111E;ENSP00000339436:D74E;ENSP00000444432:D74E;ENSP00000447292:D111E;ENSP00000447594:D74E	ENSP00000340998:D111E	D	-	3	2	NTN4	94705100	0.021000	0.18746	1.000000	0.80357	0.788000	0.44548	0.009000	0.13219	0.351000	0.24027	-0.566000	0.04163	GAT		0.542	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		4	70	0	0	0	1	0	4	70				
CSMD1	64478	broad.mit.edu	37	8	4494931	4494931	+	Missense_Mutation	SNP	G	G	C			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr8:4494931G>C	ENST00000520002.1	-	2	790	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	CSMD1_ENST00000602723.1_Missense_Mutation_p.L79V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L79V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L79V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L79V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L79V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L79V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	79	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTCTTCAAGAGCAAAGGTA	0.423																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(235-237)Ctt>Gtt		CUB and Sushi multiple domains 1							130.0	129.0	130.0					8																	4494931		1914	4149	6063	SO:0001583	missense	64478					integral to membrane		g.chr8:4494931G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.235C>G	8.37:g.4494931G>C	ENSP00000430733:p.Leu79Val					CSMD1_ENST00000602723.1_Missense_Mutation_p.L79V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L79V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L79V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L79V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L79V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L79V	p.L79V			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	790	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	79			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.235C>G		.	.	.	.	.	.	.	.	.	.	G	14.05	2.420579	0.42918	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.12	5.12	0.69794	.	.	.	.	.	T	0.40272	0.1110	L	0.42487	1.325	0.28338	N	0.921467	D	0.69078	0.997	D	0.85130	0.997	T	0.16988	-1.0384	9	0.51188	T	0.08	.	16.0542	0.80782	0.0:0.0:1.0:0.0	.	79	E5RIG2	.	V	79	ENSP00000383047:L79V;ENSP00000430733:L79V;ENSP00000441462:L79V;ENSP00000446243:L79V;ENSP00000441675:L79V	ENSP00000383047:L79V	L	-	1	0	CSMD1	4482339	1.000000	0.71417	0.186000	0.23195	0.990000	0.78478	5.719000	0.68462	2.401000	0.81631	0.585000	0.79938	CTT		0.423	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	84	0	0	0	1	0	4	84				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	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		10	17	0	0	0	1	0	10	17				
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						ENST00000366835.3																			1	Deletion - In frame(1)	p.Q775delQ(1)	breast(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2323-2325)del		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2593_2595	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		7	225						7	225	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	86						8	86	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del|ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3298-3303)ggg>gg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	p.GL1100del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3480_3482	+			1100					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	227						7	227	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		8	99						8	99	---	---	---	---
AQP4	361	broad.mit.edu	37	18	24445877	24445878	+	5'Flank	INS	-	-	T	rs68070007|rs3974653|rs529134198|rs56282359	byFrequency	TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr18:24445877_24445878insT	ENST00000383168.4	-	0	0				AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4_ENST00000440832.3_5'Flank|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4						carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CATTTACTTAATTTTTTTTTTT	0.302																																						ENST00000568797.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr18:24445877_24445878insT	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955		18.37:g.24445888_24445888dupT	Exception_encountered					AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA		NR_026908.1						0	53	+								P78564	RNA	INS	ENST00000383168.4	37		CCDS11889.1																																																																																				0.302	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		2	4						2	4	---	---	---	---
