#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
C3	718	broad.mit.edu	37	19	6702224	6702224	+	Splice_Site	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:6702224C>A	ENST00000245907.6	-	19	2447		c.e19-1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTAGAGATTCTGGATGGAGA	0.507																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.e19-1		Homo sapiens complement component 3 (C3), mRNA.							46.0	44.0	45.0					19																	6702224		2203	4300	6503	SO:0001630	splice_region_variant	718				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702224C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2355-1G>T	19.37:g.6702224C>A			Somatic					p.G785_splice	NM_000064	NP_000055	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	19	2417	-			785					A7E236	Splice_Site	SNP	ENST00000245907.6	37	c.2355_splice	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332051	0.41297	.	.	ENSG00000125730	ENST00000245907	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8064	0.92038	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3	6653224	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	6.126000	0.71635	2.735000	0.93741	0.591000	0.81541	.		0.507	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Intron	28	44	0	0	0	1	0	28	44				
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A	rs534067316		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.001		0.0	False		,,,				2504	0.0					uc003eqt.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1369-1371)ccG>ccA		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							139.0	148.0	145.0					3																	134873067		2194	4298	6492	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873067G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1371G>A	3.37:g.134873067G>A			Somatic				EPHB1_uc003equ.3_Silent_p.P18P	p.P457P	NM_004441	NP_004432	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			5	1746	+			457			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1371G>A	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	239	0	0	0	1	0	4	239				
XIST	7503	broad.mit.edu	37	X	73062636	73062636	+	lincRNA	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:73062636A>G	ENST00000429829.1	-	0	9952					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAGAGGCAAAAGGGGCAGGGC	0.463																																						uc004ebm.1																			0													Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.							67.0	64.0	65.0					X																	73062636		875	1991	2866			7503							g.chrX:73062636A>G	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062636A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0		-									RNA	SNP	ENST00000429829.1	37	c.9953T>C																																																																																					0.463	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		3	102	0	0	0	1	0	3	102				
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000368732.1_Missense_Mutation_p.K49R|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						uc001fbs.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.							115.0	115.0	115.0					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg		Somatic					p.K49R	NM_002964	NP_002955	WXS	Illumina GAIIx	Phase_I	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	316	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		3	178	0	0	0	1	0	3	178				
PKHD1	5314	broad.mit.edu	37	6	51619708	51619708	+	Missense_Mutation	SNP	G	G	A	rs148990124		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:51619708G>A	ENST00000371117.3	-	56	8946	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2891C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2891					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCATGGGGGCGCCAATCCACT	0.438																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8671-8673)Cgc>Tgc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	154.0	145.0	148.0		8671,8671	1.0	0.6	6	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2891/4075,2891/3397	51619708	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51619708G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8671C>T	6.37:g.51619708G>A	ENSP00000360158:p.Arg2891Cys		Somatic				PKHD1_uc010jzn.1_Missense_Mutation_p.R874C|PKHD1_uc003pai.3_Missense_Mutation_p.R2891C	p.R2891C	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			55	8947	-	Lung NSC(77;0.0605)		2891					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8671C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492498	0.44352	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83992	-1.79;-1.79	5.63	0.971	0.19698	.	0.940169	0.08899	N	0.877580	T	0.79393	0.4438	M	0.68593	2.085	0.25350	N	0.988874	D;D;D	0.71674	0.998;0.998;0.995	P;P;P	0.53146	0.549;0.719;0.549	T	0.68112	-0.5495	10	0.72032	D	0.01	.	10.3821	0.44119	0.0:0.112:0.2551:0.6329	.	2891;2891;2891	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2891	ENSP00000360158:R2891C;ENSP00000341097:R2891C	ENSP00000341097:R2891C	R	-	1	0	PKHD1	51727667	0.353000	0.24904	0.631000	0.29282	0.417000	0.31264	0.475000	0.22164	0.364000	0.24374	-0.182000	0.12963	CGC		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		26	197	0	0	0	1	0	26	197				
F8	2157	broad.mit.edu	37	X	154157202	154157202	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:154157202G>A	ENST00000360256.4	-	14	5063	c.4863C>T	c.(4861-4863)aaC>aaT	p.N1621N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1621	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCACAAGCGTTCAGGGACA	0.413																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4861-4863)aaC>aaT		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						181.0	174.0	176.0					X																	154157202		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157202G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4863C>T	X.37:g.154157202G>A			Somatic					p.N1621N	NM_000132	NP_000123	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			13	5034	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1621			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.4863C>T	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	286	0	0	0	1	0	5	286				
NF2	4771	broad.mit.edu	37	22	30038263	30038263	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:30038263G>A	ENST00000338641.4	+	4	877	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	NF2_ENST00000334961.7_Missense_Mutation_p.V63I|NF2_ENST00000347330.5_Missense_Mutation_p.V63I|NF2_ENST00000413209.2_Missense_Mutation_p.V146I|NF2_ENST00000403435.1_Missense_Mutation_p.V146I|NF2_ENST00000353887.4_Missense_Mutation_p.V63I|NF2_ENST00000361166.4_Missense_Mutation_p.V146I|NF2_ENST00000397789.3_Missense_Mutation_p.V146I|NF2_ENST00000361676.4_Missense_Mutation_p.V104I|NF2_ENST00000361452.4_Missense_Mutation_p.V105I|NF2_ENST00000403999.3_Missense_Mutation_p.V146I	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	146	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		10	Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.V122_K149del(10)|p.?(2)|p.V146I(2)|p.Y144fs*5(1)|p.K123fs*2(1)|p.L140_P252del(1)|p.L127_D382del(1)|p.A145_L163del(1)	soft_tissue(7)|meninges(1)|large_intestine(1)|stomach(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(436-438)Gtc>Atc		Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.							72.0	70.0	71.0					22																	30038263		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30038263G>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.436G>A	22.37:g.30038263G>A	ENSP00000344666:p.Val146Ile		Somatic				NF2_uc003afy.4_Missense_Mutation_p.V146I|NF2_uc003afz.4_Missense_Mutation_p.V63I|NF2_uc003agf.4_Missense_Mutation_p.V146I|NF2_uc003agb.4_Missense_Mutation_p.V69I|NF2_uc003agc.4_Missense_Mutation_p.V108I|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Missense_Mutation_p.V146I|NF2_uc003aga.4_Missense_Mutation_p.V104I|NF2_uc003agh.4_Missense_Mutation_p.V105I|NF2_uc003agi.4_Missense_Mutation_p.V63I|NF2_uc003agj.4_Missense_Mutation_p.V146I	p.V146I	NM_000268	NP_000259	WXS	Illumina GAIIx	Phase_I	P35240	MERL_HUMAN			3	879	+			146			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.436G>A	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634247	0.67130	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;D;T;T;T;T;T;T;T;T;T	0.94417	-1.11;-3.42;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.24	4.22	0.49857	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.96620	0.8897	M	0.77486	2.375	0.32088	N	0.59225	D;D;D;D;D;D;D	0.76494	0.979;0.999;0.996;0.989;0.989;0.989;0.98	P;D;D;D;P;P;P	0.67548	0.87;0.948;0.952;0.926;0.861;0.891;0.861	D	0.96953	0.9696	9	.	.	.	.	13.9963	0.64405	0.0735:0.0:0.9265:0.0	.	146;105;146;146;104;63;146	P35240-9;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;MERL_HUMAN;.;.;.;.	I	146;63;146;146;105;146;146;63;63;146;104;146	ENSP00000409921:V146I;ENSP00000335160:V63I;ENSP00000344666:V146I;ENSP00000384029:V146I;ENSP00000354897:V105I;ENSP00000384797:V146I;ENSP00000335652:V63I;ENSP00000340626:V63I;ENSP00000380891:V146I;ENSP00000355183:V104I;ENSP00000354529:V146I	.	V	+	1	0	NF2	28368263	1.000000	0.71417	0.984000	0.44739	0.960000	0.62799	9.777000	0.99008	1.213000	0.43380	0.655000	0.94253	GTC		0.448	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		3	59	0	0	0	1	0	3	59				
MYLK	4638	broad.mit.edu	37	3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	rs368321325		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:123383036G>A	ENST00000475616.1	-	20	3900	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000360772.3_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3901-3903)Cgc>Tgc		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	131.0	133.0		3901,3694,3901,3694	2.8	0.7	3		133	0,8600		0,0,4300	no	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1301/1915,1232/1846,1301/1864,1232/1795	123383036	1,13005	2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383036G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3901C>T	3.37:g.123383036G>A	ENSP00000418335:p.Arg1301Cys		Somatic				MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.R101C|MYLK_uc011bjw.2_Missense_Mutation_p.R1301C|MYLK_uc003egp.3_Missense_Mutation_p.R1232C|MYLK_uc003egq.3_Missense_Mutation_p.R1301C|MYLK_uc003egr.3_Missense_Mutation_p.R1232C|MYLK_uc003egs.3_Missense_Mutation_p.R1125C	p.R1301C	NM_053025	NP_444253	WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	22	4183	-		Lung NSC(201;0.0496)	1301			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3901C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163382	0.38217	2.27E-4	0.0	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.86	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68997	0.3062	L	0.36672	1.1	0.42021	D	0.990989	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.998;0.999	P;D;P;P;D	0.65233	0.854;0.933;0.873;0.864;0.91	T	0.68708	-0.5337	9	0.54805	T	0.06	.	8.9629	0.35858	0.0919:0.0:0.7154:0.1927	.	1301;1232;1301;1232;1301	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	C	1301;1301;1301;1232;101;1301;101	ENSP00000354004:R1301C;ENSP00000353452:R1301C;ENSP00000352088:R1301C;ENSP00000320622:R1232C;ENSP00000346846:R101C;ENSP00000418335:R1301C;ENSP00000422984:R101C	ENSP00000320622:R1232C	R	-	1	0	MYLK	124865726	0.571000	0.26659	0.739000	0.30968	0.887000	0.51463	0.646000	0.24797	1.056000	0.40484	0.655000	0.94253	CGC		0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		40	294	0	0	0	1	0	40	294				
TEX12	56158	broad.mit.edu	37	11	112040055	112040055	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		AP002884.3_ENST00000532612.1_5'Flank|RP11-356J5.4_ENST00000527589.1_RNA|TEX12_ENST00000530752.1_Splice_Site|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525468.1_Splice_Site	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12						meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373																																						uc001pnc.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.e2+1		Homo sapiens testis expressed 12 (TEX12), mRNA.							205.0	221.0	216.0					11																	112040055		2201	4297	6498	SO:0001630	splice_region_variant	56158							g.chr11:112040055G>A	AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"""testis expressed sequence 12"""			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.63+1G>A	11.37:g.112040055G>A			Somatic				TEX12_uc001pnd.3_Splice_Site_p.E21_splice	p.E21_splice	NM_031275	NP_112565	WXS	Illumina GAIIx	Phase_I	Q9BXU0	TEX12_HUMAN		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	2	195	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	21					A6NDL9|B0YIX3	Splice_Site	SNP	ENST00000280358.4	37	c.63_splice	CCDS31679.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289894	0.23478	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.511	0.67787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEX12	111545265	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.383000	0.59600	2.880000	0.98712	0.650000	0.86243	.		0.373	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1		Intron	4	147	0	0	0	1	0	4	147				
SPAST	6683	broad.mit.edu	37	2	32312619	32312619	+	Silent	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:32312619A>G	ENST00000315285.3	+	2	599	c.474A>G	c.(472-474)aaA>aaG	p.K158K	AL121655.1_ENST00000577299.1_RNA|SPAST_ENST00000345662.1_Silent_p.K158K	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318																																						uc002roc.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)aaA>aaG		Homo sapiens spastin (SPAST), transcript variant 1, mRNA.							133.0	143.0	140.0					2																	32312619		2203	4300	6503	SO:0001819	synonymous_variant	6683				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32312619A>G	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.474A>G	2.37:g.32312619A>G			Somatic				SPAST_uc002rod.3_Silent_p.K158K	p.K158K	NM_014946	NP_055761	WXS	Illumina GAIIx	Phase_I	Q9UBP0	SPAST_HUMAN			1	695	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		158			MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.			Silent	SNP	ENST00000315285.3	37	c.474A>G	CCDS1778.1																																																																																				0.318	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		3	166	0	0	0	1	0	3	166				
CENPI	2491	broad.mit.edu	37	X	100382562	100382562	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:100382562A>T	ENST00000372927.1	+	10	1259	c.982A>T	c.(982-984)Agt>Tgt	p.S328C	CENPI_ENST00000372926.1_Missense_Mutation_p.S328C|CENPI_ENST00000423383.1_Missense_Mutation_p.S328C|CENPI_ENST00000218507.5_Missense_Mutation_p.S328C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	328					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAAAGAGATGAGTCTTTCTGA	0.358																																						uc004egx.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(982-984)Agt>Tgt		Homo sapiens centromere protein I (CENPI), mRNA.							100.0	93.0	96.0					X																	100382562		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382562A>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.982A>T	X.37:g.100382562A>T	ENSP00000362018:p.Ser328Cys		Somatic				CENPI_uc011mrg.2_Missense_Mutation_p.S328C|CENPI_uc004egy.3_Missense_Mutation_p.S328C	p.S328C	NM_006733	NP_006724	WXS	Illumina GAIIx	Phase_I	Q92674	CENPI_HUMAN			9	1252	+			328					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.982A>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	a	13.30	2.196268	0.38806	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	1.57	0.23409	.	1.002650	0.08030	N	0.993452	T	0.50069	0.1594	L	0.53249	1.67	0.09310	N	1	D;D	0.58620	0.983;0.971	P;P	0.56788	0.806;0.72	T	0.32455	-0.9906	9	0.56958	D	0.05	0.5801	5.4604	0.16614	0.6347:0.1379:0.2274:0.0	.	328;328	B4DZL4;Q92674	.;CENPI_HUMAN	C	328	.	ENSP00000218507:S328C	S	+	1	0	CENPI	100269218	0.000000	0.05858	0.003000	0.11579	0.375000	0.29983	1.051000	0.30417	0.268000	0.21939	0.481000	0.45027	AGT		0.358	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		63	126	0	0	0	1	0	63	126				
ACY1	95	broad.mit.edu	37	3	52019429	52019429	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:52019429C>T	ENST00000404366.2	+	4	358	c.212C>T	c.(211-213)aCa>aTa	p.T71I	ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000476351.1_Missense_Mutation_p.T36I|ACY1_ENST00000476854.1_Missense_Mutation_p.T71I|ACY1_ENST00000494103.1_Missense_Mutation_p.T71I|ACY1_ENST00000458031.2_Missense_Mutation_p.T161I|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.T172I|ABHD14B_ENST00000483233.1_5'Flank	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	71					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	ACCAACCCTACACTCTCCTCC	0.607																																						uc011bea.2																			0		p.R161Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(481-483)aCa>aTa		Homo sapiens aminoacylase 1 (ACY1), transcript variant 2, mRNA.	L-Aspartic Acid(DB00128)						170.0	126.0	141.0					3																	52019429		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52019429C>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.212C>T	3.37:g.52019429C>T	ENSP00000384296:p.Thr71Ile		Somatic				ABHD14B_uc003dcn.3_5'Flank|ACY1_uc011beb.2_Missense_Mutation_p.T71I|ACY1_uc003dcp.3_Missense_Mutation_p.T71I|ACY1_uc003dcq.3_Missense_Mutation_p.T71I|ACY1_uc021wzb.1_Missense_Mutation_p.T36I|ACY1_uc021wzc.1_Missense_Mutation_p.T71I|ACY1_uc021wzd.1_Missense_Mutation_p.T71I	p.T161I	NM_001198895	NP_001185824	WXS	Illumina GAIIx	Phase_I	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	737	+			71					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.482C>T	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951286	0.34471	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.15;-1.66;-1.66	4.87	-8.23	0.01033	.	1.958810	0.02212	N	0.063314	T	0.72922	0.3521	L	0.46157	1.445	0.09310	N	1	B;B;B	0.21225	0.053;0.051;0.017	B;B;B	0.16722	0.013;0.016;0.009	T	0.58194	-0.7679	10	0.62326	D	0.03	-10.7987	3.597	0.08010	0.5272:0.1102:0.224:0.1386	.	71;161;71	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	I	161;172;71;71;36;71;71;80	ENSP00000390557:T161I;ENSP00000420487:T172I;ENSP00000419262:T71I;ENSP00000417056:T36I;ENSP00000417618:T71I;ENSP00000384296:T71I;ENSP00000419830:T80I	ENSP00000384296:T71I	T	+	2	0	ACY1;RP11-155D18.11	51994469	0.000000	0.05858	0.000000	0.03702	0.959000	0.62525	-3.348000	0.00503	-1.204000	0.02648	0.456000	0.33151	ACA		0.607	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		47	102	0	0	0	1	0	47	102				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G			Somatic					p.H897H	NM_001102653	NP_001096123	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			20	2829	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	277	0	0	0	1	0	4	277				
STOX2	56977	broad.mit.edu	37	4	184930711	184930711	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:184930711C>A	ENST00000308497.4	+	3	2155	c.720C>A	c.(718-720)agC>agA	p.S240R	STOX2_ENST00000438269.1_Missense_Mutation_p.S240R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	240					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGAAAAGAGCAAAAGTACTG	0.443																																						uc003ivz.1																			0				breast(1)|endometrium(7)|lung(6)	14						c.(718-720)agC>agA		Homo sapiens storkhead box 2 (STOX2), mRNA.							32.0	34.0	33.0					4																	184930711		1897	4106	6003	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930711C>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.720C>A	4.37:g.184930711C>A	ENSP00000311257:p.Ser240Arg		Somatic				STOX2_uc003iwa.1_5'UTR	p.S240R	NM_020225	NP_064610	WXS	Illumina GAIIx	Phase_I	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	2	2155	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	240					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.720C>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999212	0.54147	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.79454	-0.28;-1.27	5.55	2.72	0.32119	.	0.120721	0.85682	D	0.000000	T	0.81912	0.4923	L	0.54323	1.7	0.44816	D	0.997823	D	0.67145	0.996	D	0.71656	0.974	T	0.81072	-0.1098	10	0.87932	D	0	-26.7777	7.3976	0.26946	0.0:0.644:0.0:0.356	.	240	Q9P2F5	STOX2_HUMAN	R	240	ENSP00000311257:S240R;ENSP00000390127:S240R	ENSP00000311257:S240R	S	+	3	2	STOX2	185167705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.061000	0.41403	0.914000	0.36822	0.655000	0.94253	AGC		0.443	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		3	36	0	0	0	1	0	3	36				
DLL1	28514	broad.mit.edu	37	6	170594187	170594187	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:170594187C>T	ENST00000366756.3	-	8	1402	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	357	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCGTAGAAGCCGGGTGGGCAG	0.557																																						uc003qxm.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1069-1071)Ggc>Agc		Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.							68.0	65.0	66.0					6																	170594187		2203	4300	6503	SO:0001583	missense	28514				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding	g.chr6:170594187C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1069G>A	6.37:g.170594187C>T	ENSP00000355718:p.Gly357Ser		Somatic					p.G357S	NM_005618	NP_005609	WXS	Illumina GAIIx	Phase_I	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	7	1539	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	357			EGF-like 4; calcium-binding (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.1069G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621689	0.96660	.	.	ENSG00000198719	ENST00000366756	D	0.98192	-4.78	5.09	5.09	0.68999	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.096235	0.64402	D	0.000001	D	0.98918	0.9633	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	D	0.99474	1.0946	10	0.62326	D	0.03	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	357	O00548	DLL1_HUMAN	S	357	ENSP00000355718:G357S	ENSP00000355718:G357S	G	-	1	0	DLL1	170436112	1.000000	0.71417	0.980000	0.43619	0.950000	0.60333	7.751000	0.85126	2.393000	0.81446	0.585000	0.79938	GGC		0.557	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			4	99	0	0	0	1	0	4	99				
RYR1	6261	broad.mit.edu	37	19	38959719	38959719	+	Silent	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:38959719C>T	ENST00000359596.3	+	26	3495	c.3495C>T	c.(3493-3495)ggC>ggT	p.G1165G	RYR1_ENST00000355481.4_Silent_p.G1165G|RYR1_ENST00000360985.3_Silent_p.G1165G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1165	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCAATGGCGAGGTCCTCA	0.557																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3493-3495)ggC>ggT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						119.0	102.0	108.0					19																	38959719		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959719C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3495C>T	19.37:g.38959719C>T			Somatic				RYR1_uc002oiu.3_Silent_p.G1165G	p.G1165G	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3625	+	all_cancers(60;7.91e-06)		1165			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3495C>T	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	119	0	0	0	1	0	12	119				
ADAM15	8751	broad.mit.edu	37	1	155028663	155028663	+	Silent	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:155028663C>T	ENST00000356955.2	+	9	953	c.852C>T	c.(850-852)ttC>ttT	p.F284F	ADAM15_ENST00000447332.3_Silent_p.F268F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.F284F|ADAM15_ENST00000531455.1_Silent_p.F294F|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Silent_p.F284F|ADAM15_ENST00000449910.2_Silent_p.F284F|ADAM15_ENST00000271836.6_Silent_p.F284F|ADAM15_ENST00000359280.4_Silent_p.F284F|ADAM15_ENST00000360674.4_Silent_p.F284F|ADAM15_ENST00000368410.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCGAAAACTTCCTCCACTGGC	0.622																																						uc001fgr.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(850-852)ttC>ttT		Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.							79.0	77.0	78.0					1																	155028663		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	g.chr1:155028663C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.852C>T	1.37:g.155028663C>T			Somatic				LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.F268F|ADAM15_uc010peu.1_Silent_p.F301F|ADAM15_uc001fgx.1_Silent_p.F284F|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.F284F|ADAM15_uc001fgs.1_Silent_p.F284F|ADAM15_uc010pev.1_Silent_p.F294F|ADAM15_uc001fgu.1_Silent_p.F284F|ADAM15_uc001fgv.1_Silent_p.F284F|ADAM15_uc001fgw.1_Silent_p.F284F	p.F284F	NM_207197	NP_997080	WXS	Illumina GAIIx	Phase_I	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	953	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		284			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.852C>T	CCDS1087.1																																																																																				0.622	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		4	117	0	0	0	1	0	4	117				
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468																																					NSCLC(40;560 1096 7501 40315 49546)	uc003ubd.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1471-1473)aaA>aaG		Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.							141.0	117.0	125.0					7																	74212378		2203	4299	6502	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212378T>C	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1473A>G	7.37:g.74212378T>C			Somatic				GTF2IRD2_uc010lbt.1_Silent_p.K38K	p.K491K	NM_173537	NP_775808	WXS	Illumina GAIIx	Phase_I	Q86UP8	GTD2A_HUMAN			15	1657	-			491					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1473A>G	CCDS5576.1																																																																																				0.468	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		3	202	0	0	0	1	0	3	202				
CACNA1G	8913	broad.mit.edu	37	17	48678432	48678432	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr17:48678432G>A	ENST00000359106.5	+	19	3812	c.3812G>A	c.(3811-3813)cGg>cAg	p.R1271Q	CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1248Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1271					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGTGTCACCGGATCATCACC	0.627																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3811-3813)cGg>cAg		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						123.0	124.0	123.0					17																	48678432		2143	4230	6373	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48678432G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3812G>A	17.37:g.48678432G>A	ENSP00000352011:p.Arg1271Gln		Somatic				CACNA1G_uc002iri.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R1161Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isj.3_5'UTR	p.R1271Q	NM_018896	NP_061496	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		18	4184	+	Breast(11;6.7e-17)		1271					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3812G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	14.44	2.535994	0.45176	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97553	-4.04;-4.03;-4.21;-3.98;-4.04;-4.05;-4.06;-4.16;-4.1;-4.13;-4.13;-4.02;-4.0;-4.09;-4.03;-3.98;-4.07;-4.03;-4.01;-4.08;-4.04;-4.02;-4.06;-4.01;-4.08;-4.06;-4.43	4.85	3.86	0.44501	.	0.243896	0.38897	N	0.001525	D	0.96470	0.8848	L	0.39326	1.205	0.30590	N	0.761608	P;B;B;D;B;P;D;B;P;B;B;B;B;B;P;B;D;B;B;B;P;B;B;B;D;D	0.76494	0.701;0.023;0.396;0.999;0.135;0.943;0.998;0.226;0.9;0.122;0.226;0.08;0.143;0.135;0.8;0.2;0.977;0.411;0.081;0.239;0.943;0.083;0.226;0.133;0.986;0.986	B;B;B;D;B;B;D;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;P;P	0.73380	0.069;0.017;0.025;0.98;0.017;0.173;0.973;0.025;0.217;0.025;0.025;0.027;0.011;0.017;0.217;0.014;0.615;0.194;0.017;0.025;0.242;0.012;0.025;0.007;0.78;0.786	D	0.92842	0.6289	10	0.59425	D	0.04	.	6.14	0.20255	0.2866:0.0:0.7134:0.0	.	1248;1271;1271;1271;1271;1271;1271;1271;1271;1271;1271;1248;1271;1271;1271;1271;1271;1248;1271;1248;1248;1248;1248;1271;1248;1271	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	Q	1248;1248;1271;1248;1248;1248;1271;1271;1248;1271;1271;1271;1271;1271;1271;1248;1271;1271;1271;1271;1248;1271;1271;1271;1271;1271;86	ENSP00000353990:R1248Q;ENSP00000339302:R1248Q;ENSP00000392390:R1271Q;ENSP00000347078:R1248Q;ENSP00000409759:R1248Q;ENSP00000425522:R1248Q;ENSP00000426261:R1271Q;ENSP00000425451:R1271Q;ENSP00000422407:R1248Q;ENSP00000426814:R1271Q;ENSP00000427238:R1271Q;ENSP00000423112:R1271Q;ENSP00000420918:R1271Q;ENSP00000426172:R1271Q;ENSP00000423045:R1271Q;ENSP00000427173:R1248Q;ENSP00000426098:R1271Q;ENSP00000425698:R1271Q;ENSP00000426232:R1271Q;ENSP00000423317:R1271Q;ENSP00000350979:R1248Q;ENSP00000352011:R1271Q;ENSP00000414388:R1271Q;ENSP00000423155:R1271Q;ENSP00000422268:R1271Q;ENSP00000421518:R1271Q;ENSP00000427697:R86Q	ENSP00000339302:R1248Q	R	+	2	0	CACNA1G	46033431	0.955000	0.32602	1.000000	0.80357	0.997000	0.91878	2.040000	0.41203	2.409000	0.81822	0.655000	0.94253	CGG		0.627	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		80	178	0	0	0	1	0	80	178				
ASCL1	429	broad.mit.edu	37	12	103352503	103352503	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:103352503C>A	ENST00000266744.3	+	1	1040	c.481C>A	c.(481-483)Cgc>Agc	p.R161S		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	161	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657																																						uc001tjr.4																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(481-483)Cgc>Agc		Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.							40.0	36.0	37.0					12																	103352503		2203	4300	6503	SO:0001583	missense	429				Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352503C>A	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.481C>A	12.37:g.103352503C>A	ENSP00000266744:p.Arg161Ser		Somatic				ASCL1_uc021rcu.1_Missense_Mutation_p.R161S	p.R161S	NM_004316	NP_004307	WXS	Illumina GAIIx	Phase_I	P50553	ASCL1_HUMAN			0	1052	+			161			Helix-loop-helix motif.		A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.481C>A	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935977	0.73442	.	.	ENSG00000139352	ENST00000266744	D	0.98164	-4.76	4.65	4.65	0.58169	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000001	D	0.99208	0.9725	H	0.95850	3.73	0.80722	D	1	D	0.61697	0.99	P	0.61800	0.894	D	0.99010	1.0814	10	0.87932	D	0	-12.7016	17.148	0.86771	0.0:1.0:0.0:0.0	.	161	P50553	ASCL1_HUMAN	S	161	ENSP00000266744:R161S	ENSP00000266744:R161S	R	+	1	0	ASCL1	101876633	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.568000	0.82369	2.133000	0.65898	0.462000	0.41574	CGC		0.657	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			3	58	0	0	0	1	0	3	58				
NBPF3	84224	broad.mit.edu	37	1	21807432	21807432	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:21807432A>G	ENST00000318249.5	+	12	1741	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R	NBPF3_ENST00000318220.6_Missense_Mutation_p.K408R|NBPF3_ENST00000342104.5_Missense_Mutation_p.K452R|NBPF3_ENST00000454000.2_Missense_Mutation_p.K394R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	464	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAATGAAAAAGGACCAAGAA	0.468																																						uc001ber.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1390-1392)aAg>aGg		Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.							87.0	127.0	114.0					1																	21807432		2185	4299	6484	SO:0001583	missense	84224					cytoplasm		g.chr1:21807432A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1391A>G	1.37:g.21807432A>G	ENSP00000316782:p.Lys464Arg		Somatic				NBPF3_uc001bes.3_Missense_Mutation_p.K408R|NBPF3_uc009vqb.3_Missense_Mutation_p.K452R|NBPF3_uc010odm.2_Missense_Mutation_p.K394R	p.K464R	NM_032264	NP_115640	WXS	Illumina GAIIx	Phase_I	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	1741	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	464			NBPF 4.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1391A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.286	0.420897	0.11928	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04706	3.57;3.8;3.77;3.78;3.82	0.573	-1.15	0.09709	DUF1220 (1);	.	.	.	.	T	0.06826	0.0174	M	0.76328	2.33	0.09310	N	1	P;P;P	0.45594	0.61;0.862;0.813	B;B;B	0.41332	0.354;0.135;0.221	T	0.16424	-1.0403	8	0.62326	D	0.03	.	.	.	.	.	394;452;464	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	R	394;408;464;452;408	ENSP00000415711:K394R;ENSP00000316739:K408R;ENSP00000316782:K464R;ENSP00000340336:K452R;ENSP00000391865:K408R	ENSP00000316739:K408R	K	+	2	0	NBPF3	21680019	0.004000	0.15560	0.001000	0.08648	0.166000	0.22503	0.073000	0.14640	-0.553000	0.06158	0.102000	0.15555	AAG		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	244	0	0	0	1	0	3	244				
SH3GLB2	56904	broad.mit.edu	37	9	131777178	131777178	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr9:131777178T>C	ENST00000372564.3	-	4	485	c.340A>G	c.(340-342)Aca>Gca	p.T114A	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.T114A|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.T114A	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TTGATCAGTGTCTTCCCTGAG	0.532																																						uc004bww.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(340-342)Aca>Gca		Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.							96.0	101.0	99.0					9																	131777178		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity	g.chr9:131777178T>C	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.340A>G	9.37:g.131777178T>C	ENSP00000361645:p.Thr114Ala		Somatic				SH3GLB2_uc004bwv.3_Missense_Mutation_p.T114A	p.T114A	NM_020145	NP_064530	WXS	Illumina GAIIx	Phase_I	Q9NR46	SHLB2_HUMAN			3	486	-			114			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.340A>G	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	T	8.539	0.872844	0.17322	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.45	5.45	0.79879	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	N	0.16656	0.425	0.80722	D	1	P;B	0.45283	0.855;0.004	B;B	0.43950	0.437;0.01	T	0.03051	-1.1078	10	0.02654	T	1	1.5118	14.9827	0.71321	0.0:0.0:0.0:1.0	.	114;114	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	A	114	ENSP00000361645:T114A;ENSP00000361640:T114A;ENSP00000361634:T114A;ENSP00000402566:T114A;ENSP00000388282:T114A	ENSP00000361634:T114A	T	-	1	0	SH3GLB2	130816999	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	3.161000	0.50747	2.196000	0.70406	0.533000	0.62120	ACA		0.532	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			62	149	0	0	0	1	0	62	149				
OR11G2	390439	broad.mit.edu	37	14	20666079	20666079	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:20666079G>A	ENST00000357366.3	+	1	585	c.585G>A	c.(583-585)ttG>ttA	p.L195L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTGGTTCTTGATTCCTATCG	0.453																																						uc010tlb.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(583-585)ttG>ttA		Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.							115.0	96.0	103.0					14																	20666079		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666079G>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.585G>A	14.37:g.20666079G>A			Somatic					p.L195L	NM_001005503	NP_001005503	WXS	Illumina GAIIx	Phase_I	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	585	+	all_cancers(95;0.00108)		195					Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.585G>A	CCDS32032.1																																																																																				0.453	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			6	54	0	0	0	1	0	6	54				
ALPK2	115701	broad.mit.edu	37	18	56247518	56247518	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr18:56247518A>G	ENST00000361673.3	-	4	703	c.490T>C	c.(490-492)Tcc>Ccc	p.S164P	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	164						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGGAGGGGGAGGAGTCAGCT	0.468																																						uc002lhj.4																			0		p.R164T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(490-492)Tcc>Ccc		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							208.0	214.0	212.0					18																	56247518		2151	4264	6415	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247518A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.490T>C	18.37:g.56247518A>G	ENSP00000354991:p.Ser164Pro		Somatic					p.S164P	NM_052947	NP_443179	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			3	704	-			164					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.490T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	8.698	0.909162	0.17833	.	.	ENSG00000198796	ENST00000361673	T	0.49139	0.79	5.8	-2.63	0.06133	.	.	.	.	.	T	0.14356	0.0347	N	0.03115	-0.41	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.23084	-1.0198	9	0.02654	T	1	-0.0216	0.9525	0.01379	0.3065:0.3246:0.1563:0.2126	.	164	Q86TB3	ALPK2_HUMAN	P	164	ENSP00000354991:S164P	ENSP00000354991:S164P	S	-	1	0	ALPK2	54398498	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.120000	0.10660	-0.673000	0.05259	0.450000	0.29827	TCC		0.468	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	355	0	0	0	1	0	4	355				
DAAM1	23002	broad.mit.edu	37	14	59791100	59791100	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:59791100A>G	ENST00000395125.1	+	7	940	c.917A>G	c.(916-918)tAt>tGt	p.Y306C	DAAM1_ENST00000351081.1_Missense_Mutation_p.Y306C|DAAM1_ENST00000360909.3_Missense_Mutation_p.Y306C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	306	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CATCTTCGCTATGAATTTCTG	0.289																																						uc001xdz.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(916-918)tAt>tGt		Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.							88.0	92.0	91.0					14																	59791100		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding	g.chr14:59791100A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.917A>G	14.37:g.59791100A>G	ENSP00000378557:p.Tyr306Cys		Somatic				DAAM1_uc001xea.1_Missense_Mutation_p.Y306C|DAAM1_uc001xeb.1_Missense_Mutation_p.Y306C	p.Y306C	NM_014992	NP_055807	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	7	1042	+			306			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.917A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994413	0.54041	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.83992	-1.79;-1.79;-1.79	5.17	4.01	0.46588	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	M	0.81942	2.565	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.61477	0.823;0.889	D	0.87709	0.2565	10	0.39692	T	0.17	.	11.4046	0.49889	0.8644:0.0:0.0:0.1355	.	306;306	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	306	ENSP00000354162:Y306C;ENSP00000247170:Y306C;ENSP00000378557:Y306C	ENSP00000247170:Y306C	Y	+	2	0	DAAM1	58860853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.107000	0.94261	0.962000	0.38057	0.533000	0.62120	TAT		0.289	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		42	101	0	0	0	1	0	42	101				
EPHA4	2043	broad.mit.edu	37	2	222428985	222428985	+	Missense_Mutation	SNP	C	C	A	rs144149406		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:222428985C>A	ENST00000281821.2	-	3	330	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	EPHA4_ENST00000409854.1_Missense_Mutation_p.V97L|EPHA4_ENST00000392071.4_Missense_Mutation_p.V46L|EPHA4_ENST00000409938.1_Missense_Mutation_p.V97L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	97	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAATATACACCCTCTGAGCC	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18165	0.0		0.0	False		,,,				2504	0.0					uc002vmq.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(289-291)Gtg>Ttg		Homo sapiens EPH receptor A4 (EPHA4), mRNA.		C	LEU/VAL	2,4404	4.2+/-10.8	0,2,2201	109.0	108.0	108.0		289	6.2	1.0	2	dbSNP_134	108	0,8600		0,0,4300	no	missense	EPHA4	NM_004438.3	32	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	possibly-damaging	97/987	222428985	2,13004	2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428985C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.289G>T	2.37:g.222428985C>A	ENSP00000281821:p.Val97Leu		Somatic				EPHA4_uc002vmr.2_Missense_Mutation_p.V97L|EPHA4_uc010zlm.1_Missense_Mutation_p.V38L	p.V97L	NM_004438	NP_004429	WXS	Illumina GAIIx	Phase_I	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	2	331	-		Renal(207;0.0183)	97					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.289G>T	CCDS2447.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.34	3.808823	0.70797	4.54E-4	0.0	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	L	0.58354	1.805	0.80722	D	1	P	0.44309	0.832	P	0.47346	0.544	T	0.00089	-1.2088	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97	P54764	EPHA4_HUMAN	L	97;97;97;46;38;97	ENSP00000281821:V97L;ENSP00000386276:V97L;ENSP00000386829:V97L;ENSP00000375923:V46L;ENSP00000410158:V38L;ENSP00000444085:V97L	ENSP00000281821:V97L	V	-	1	0	EPHA4	222137229	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG		0.468	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			5	214	0	0	0	1	0	5	214				
MORN1	79906	broad.mit.edu	37	1	2268277	2268277	+	Missense_Mutation	SNP	G	G	A	rs201376833	byFrequency	TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:2268277G>A	ENST00000378531.3	-	11	1222	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	350										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACAATGGGGCGCATGTCCCCT	0.657													g|||	2	0.000399361	0.0	0.0	5008	,	,		16647	0.001		0.0	False		,,,				2504	0.001					uc001ajb.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(1048-1050)gCg>gTg		Homo sapiens MORN repeat containing 1 (MORN1), mRNA.							18.0	19.0	18.0					1																	2268277		2200	4295	6495	SO:0001583	missense	79906							g.chr1:2268277G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1049C>T	1.37:g.2268277G>A	ENSP00000367792:p.Ala350Val		Somatic				MORN1_uc009vld.3_Missense_Mutation_p.A326V	p.A350V	NM_024848	NP_079124	WXS	Illumina GAIIx	Phase_I	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	10	1070	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	350					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.1049C>T	CCDS40.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	9.047	0.991229	0.18966	.	.	ENSG00000116151	ENST00000378531	T	0.46063	0.88	3.55	-4.29	0.03721	.	5.843630	0.00659	N	0.000593	T	0.23133	0.0559	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.04495	-1.0947	10	0.20519	T	0.43	.	1.1244	0.01732	0.2865:0.1057:0.3608:0.2471	.	350	Q5T089	MORN1_HUMAN	V	350	ENSP00000367792:A350V	ENSP00000367792:A350V	A	-	2	0	MORN1	2258137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-0.855000	0.04125	0.457000	0.33378	GCG		0.657	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		3	31	0	0	0	1	0	3	31				
ATP7B	540	broad.mit.edu	37	13	52548923	52548923	+	Missense_Mutation	SNP	C	C	A	rs183365083		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr13:52548923C>A	ENST00000242839.4	-	2	589	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	ATP7B_ENST00000400366.3_Missense_Mutation_p.V145F|ATP7B_ENST00000400370.3_Missense_Mutation_p.V145F|ATP7B_ENST00000418097.2_Missense_Mutation_p.V145F|ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000542656.1_Missense_Mutation_p.V113F|ATP7B_ENST00000448424.2_Missense_Mutation_p.V145F|ATP7B_ENST00000344297.5_Missense_Mutation_p.V145F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	145	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CGGAGCTTGACCACAGCCTCC	0.577									Wilson disease																													uc001vfw.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(433-435)Gtc>Ttc		Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.							50.0	51.0	51.0					13																	52548923		2008	4173	6181	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548923C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.433G>T	13.37:g.52548923C>A	ENSP00000242839:p.Val145Phe		Somatic				ATP7B_uc001vfy.2_Missense_Mutation_p.V145F|ATP7B_uc010adv.2_Missense_Mutation_p.V145F|ATP7B_uc001vfx.2_Missense_Mutation_p.V145F|ATP7B_uc010tgt.1_Missense_Mutation_p.V145F|ATP7B_uc010tgu.1_Missense_Mutation_p.V145F|ATP7B_uc010tgv.1_Missense_Mutation_p.V145F|ATP7B_uc010tgw.1_Missense_Mutation_p.V113F	p.V145F	NM_000053	NP_000044	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	1	590	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	145			HMA 2.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.433G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505318	0.64410	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.79	3.73	0.42828	Heavy metal-associated domain, HMA (2);	0.580940	0.19317	N	0.117230	D	0.92512	0.7622	M	0.64997	1.995	0.38566	D	0.949822	D;D;B;D;D;P;D;B	0.76494	0.975;0.961;0.213;0.979;0.999;0.936;0.99;0.151	P;P;B;P;D;P;D;B	0.76575	0.885;0.864;0.18;0.823;0.988;0.637;0.923;0.097	D	0.93144	0.6544	10	0.72032	D	0.01	-22.3657	11.3369	0.49509	0.0:0.7332:0.0:0.2668	.	113;145;145;145;145;145;145;145	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	F	145;145;145;145;145;145;113	ENSP00000242839:V145F;ENSP00000383217:V145F;ENSP00000342559:V145F;ENSP00000416738:V145F;ENSP00000383221:V145F;ENSP00000393343:V145F;ENSP00000443128:V113F	ENSP00000242839:V145F	V	-	1	0	ATP7B	51446924	1.000000	0.71417	0.984000	0.44739	0.920000	0.55202	1.455000	0.35190	1.438000	0.47492	0.561000	0.74099	GTC		0.577	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		16	56	0	0	0	1	0	16	56				
GUCY2F	2986	broad.mit.edu	37	X	108631736	108631736	+	Silent	SNP	G	G	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:108631736G>T	ENST00000218006.2	-	15	3229	c.2938C>A	c.(2938-2940)Cga>Aga	p.R980R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	980	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGGCCAATTCGAATTCGGACC	0.453																																						uc004eod.4																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(2938-2940)Cga>Aga		Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.							135.0	125.0	128.0					X																	108631736		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108631736G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2938C>A	X.37:g.108631736G>T			Somatic				GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc022cch.1_Silent_p.R980R	p.R980R	NM_001522	NP_001513	WXS	Illumina GAIIx	Phase_I	P51841	GUC2F_HUMAN			14	3214	-			980			Guanylate cyclase.		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.2938C>A	CCDS14545.1																																																																																				0.453	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		4	271	0	0	0	1	0	4	271				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	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		40	80	0	0	0	1	0	40	80				
SCYL2	55681	broad.mit.edu	37	12	100704966	100704966	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:100704966C>A	ENST00000360820.2	+	5	1062	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTCTGAACAAGAGGTAAT	0.348																																						uc001thn.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(625-627)Caa>Aaa		Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.							77.0	81.0	80.0					12																	100704966		2203	4298	6501	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100704966C>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.625C>A	12.37:g.100704966C>A	ENSP00000354061:p.Gln209Lys		Somatic				SCYL2_uc009ztw.1_Missense_Mutation_p.Q36K|SCYL2_uc001thm.1_Missense_Mutation_p.Q209K	p.Q209K	NM_017988	NP_060458	WXS	Illumina GAIIx	Phase_I	Q6P3W7	SCYL2_HUMAN			4	675	+			209			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.625C>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	6.946	0.544410	0.13312	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.29397	1.88;1.57	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175272	0.50627	D	0.000108	T	0.24699	0.0599	L	0.33093	0.98	0.43662	D	0.996081	B	0.15719	0.014	B	0.22152	0.038	T	0.09164	-1.0687	10	0.05833	T	0.94	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	209	Q6P3W7	SCYL2_HUMAN	K	209;36;36;209	ENSP00000448366:Q209K;ENSP00000354061:Q209K	ENSP00000258506:Q36K	Q	+	1	0	SCYL2	99229097	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.604000	0.61112	2.563000	0.86464	0.650000	0.86243	CAA		0.348	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		3	95	0	0	0	1	0	3	95				
ALG12	79087	broad.mit.edu	37	22	50302984	50302984	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:50302984C>A	ENST00000330817.6	-	6	949	c.676G>T	c.(676-678)Gct>Tct	p.A226S		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	226					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCACAGCAACCGTCAGT	0.478																																						uc003biy.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(676-678)Gct>Tct		Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.							78.0	73.0	75.0					22																	50302984		2203	4300	6503	SO:0001583	missense	79087				GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50302984C>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.676G>T	22.37:g.50302984C>A	ENSP00000333813:p.Ala226Ser		Somatic					p.A226S	NM_024105	NP_077010	WXS	Illumina GAIIx	Phase_I	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	5	950	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	226					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.676G>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912346	0.17907	.	.	ENSG00000182858	ENST00000330817	T	0.64085	-0.08	5.07	4.05	0.47172	.	0.424795	0.27258	N	0.020188	T	0.59542	0.2201	L	0.53780	1.695	0.25901	N	0.983359	B	0.29212	0.237	B	0.33196	0.159	T	0.57382	-0.7821	10	0.51188	T	0.08	-9.1028	13.8172	0.63299	0.0:0.9256:0.0:0.0744	.	226	Q9BV10	ALG12_HUMAN	S	226	ENSP00000333813:A226S	ENSP00000333813:A226S	A	-	1	0	ALG12	48688988	0.811000	0.29063	0.041000	0.18516	0.051000	0.14879	2.863000	0.48396	1.297000	0.44761	0.650000	0.86243	GCT		0.478	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	74	0	0	0	1	0	3	74				
CCDC67	159989	broad.mit.edu	37	11	93103317	93103317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:93103317C>T	ENST00000298050.3	+	6	611	c.511C>T	c.(511-513)Caa>Taa	p.Q171*		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	171					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGATGCTCAACAAAAATTATT	0.308																																						uc001pdq.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(511-513)Caa>Taa		Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.							53.0	53.0	53.0					11																	93103317		1800	4065	5865	SO:0001587	stop_gained	159989							g.chr11:93103317C>T	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.511C>T	11.37:g.93103317C>T	ENSP00000298050:p.Gln171*		Somatic				CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q171*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.Q171*	p.Q171*	NM_181645	NP_857596	WXS	Illumina GAIIx	Phase_I	Q05D60	CCD67_HUMAN			5	611	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	171					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.511C>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.148073	0.97324	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	.	.	.	5.5	5.5	0.81552	.	0.090066	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3873	0.60803	0.157:0.843:0.0:0.0	.	.	.	.	X	171	.	ENSP00000298050:Q171X	Q	+	1	0	CCDC67	92742965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.242000	0.51384	2.584000	0.87258	0.563000	0.77884	CAA		0.308	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		8	14	0	0	0	1	0	8	14				
