#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			6	57	0	0	0	0.217242	0	6	57				
NCBP1	4686	broad.mit.edu	37	9	100407439	100407439	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr9:100407439C>T	ENST00000375147.3	+	5	678	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	141	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATGTGATTGCCGCCCCATCA	0.383																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(421-423)gCc>gTc		nuclear cap binding protein subunit 1, 80kDa							151.0	144.0	146.0					9																	100407439		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100407439C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.422C>T	9.37:g.100407439C>T	ENSP00000364289:p.Ala141Val						p.A141V	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			5	678	+		Acute lymphoblastic leukemia(62;0.158)	141			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.422C>T	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788763	0.70337	.	.	ENSG00000136937	ENST00000375147	T	0.22539	1.95	5.64	4.74	0.60224	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.51422	1.61	0.80722	D	1	B	0.26318	0.146	B	0.33568	0.166	T	0.03945	-1.0990	10	0.44086	T	0.13	-17.0972	16.0139	0.80422	0.1357:0.8643:0.0:0.0	.	141	Q09161	NCBP1_HUMAN	V	141	ENSP00000364289:A141V	ENSP00000364289:A141V	A	+	2	0	NCBP1	99447260	1.000000	0.71417	0.985000	0.45067	0.766000	0.43426	7.502000	0.81614	1.515000	0.48885	0.650000	0.86243	GCC		0.383	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		4	181	0	0	0	0.150653	0	4	181				
TMEM234	56063	broad.mit.edu	37	1	32682537	32682537	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:32682537C>T	ENST00000344461.3	-	5	355	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	TMEM234_ENST00000545122.1_3'UTR|TMEM234_ENST00000309777.6_Missense_Mutation_p.G114S|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000485689.1_5'UTR			Q8WY98	TM234_HUMAN	transmembrane protein 234	114						integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						AGCACCATGCCAGCAACTGCT	0.552																																						ENST00000309777.6																			0				kidney(2)|lung(3)	5						c.(340-342)Ggc>Agc		transmembrane protein 234							81.0	73.0	76.0					1																	32682537		2203	4300	6503	SO:0001583	missense	56063					integral to membrane		g.chr1:32682537C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.340G>A	1.37:g.32682537C>T	ENSP00000344021:p.Gly114Ser					TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000545122.1_3'UTR|TMEM234_ENST00000344461.3_Missense_Mutation_p.G114S	p.G114S	NM_019118.3	NP_061991.3	Q8WY98	TM234_HUMAN			5	342	-			114					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.340G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.112206	0.94339	.	.	ENSG00000160055	ENST00000309777;ENST00000344461	T;T	0.80214	-1.35;-1.35	5.0	5.0	0.66597	.	.	.	.	.	D	0.91068	0.7189	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92255	0.5812	9	0.87932	D	0	.	18.4558	0.90720	0.0:1.0:0.0:0.0	.	114	Q8WY98-3	.	S	114	ENSP00000309792:G114S;ENSP00000344021:G114S	ENSP00000309792:G114S	G	-	1	0	TMEM234	32455124	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	5.650000	0.67944	2.775000	0.95449	0.563000	0.77884	GGC		0.552	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		3	49	0	0	0	0.150653	0	3	49				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	A	rs9894106|rs553572799	byFrequency	TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																						ENST00000391417.4																			3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(334-336)ccC>ccA		keratin associated protein 4-7							13.0	14.0	14.0					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476							g.chr17:39240794C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>A	17.37:g.39240794C>A							p.P112P	NM_033061.3	NP_149050.3					1	336	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.336C>A	CCDS45673.1																																																																																				0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	16	1	0	6.4e-05	0.115264	7.25333e-05	3	16				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	77	0	0	0	0.150653	0	3	77				
PCDH8	5100	broad.mit.edu	37	13	53421761	53421761	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr13:53421761C>T	ENST00000377942.3	-	1	1014	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A271T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCGGGGTCGGCTGCGTCCAGG	0.716																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(811-813)Gcc>Acc		protocadherin 8							6.0	6.0	6.0					13																	53421761		1976	3959	5935	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421761C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.811G>A	13.37:g.53421761C>T	ENSP00000367177:p.Ala271Thr					PCDH8_ENST00000338862.4_Missense_Mutation_p.A271T	p.A271T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1014	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	271			Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.811G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.367176	0.01225	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.43294	0.95;0.95	4.37	3.53	0.40419	Cadherin (5);Cadherin-like (1);	0.000000	0.43919	D	0.000517	T	0.10723	0.0262	N	0.00368	-1.59	0.09310	N	1	B;B	0.19445	0.036;0.016	B;B	0.21360	0.034;0.034	T	0.32719	-0.9896	10	0.02654	T	1	.	11.6473	0.51269	0.0:0.9133:0.0:0.0867	.	271;271	O95206-2;O95206	.;PCDH8_HUMAN	T	271	ENSP00000367177:A271T;ENSP00000341350:A271T	ENSP00000341350:A271T	A	-	1	0	PCDH8	52319762	0.021000	0.18746	0.941000	0.38009	0.300000	0.27592	1.871000	0.39539	1.064000	0.40671	-0.448000	0.05591	GCC		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		2	4	0	0	0	0.115264	0	2	4				
TTN	7273	broad.mit.edu	37	2	179439488	179439488	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr2:179439488G>A	ENST00000591111.1	-	276	66672	c.66448C>T	c.(66448-66450)Ctt>Ttt	p.L22150F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14851F|TTN_ENST00000460472.2_Missense_Mutation_p.L14726F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14918F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L23791F|TTN_ENST00000342992.6_Missense_Mutation_p.L21223F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22150	Fibronectin type-III 60. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGTAGTAAGGCGGGTGGCT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(71371-71373)Ctt>Ttt		titin							110.0	104.0	106.0					2																	179439488		1934	4145	6079	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439488G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66448C>T	2.37:g.179439488G>A	ENSP00000465570:p.Leu22150Phe					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L14726F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14918F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L22150F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L21223F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14851F	p.L23791F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	71595	-			22150			Fibronectin type-III 73.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71371C>T		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680133	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95478	0.8531	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96636	0.9470	9	0.87932	D	0	.	19.6031	0.95572	0.0:0.0:1.0:0.0	.	14726;14851;14918;22150	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	21223;14726;14918;14851;14724	ENSP00000343764:L21223F;ENSP00000434586:L14726F;ENSP00000340554:L14918F;ENSP00000352154:L14851F	ENSP00000340554:L14918F	L	-	1	0	TTN	179147734	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.864000	0.87037	2.647000	0.89833	0.650000	0.86243	CTT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	119	0	0	0	0.150653	0	3	119				
PRICKLE1	144165	broad.mit.edu	37	12	42860031	42860031	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:42860031T>C	ENST00000455697.1	-	6	1025	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247C|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	247	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTACTCCGCATAGAGAGACTC	0.522																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(739-741)tAt>tGt		prickle homolog 1 (Drosophila)							78.0	74.0	75.0					12																	42860031		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860031T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.740A>G	12.37:g.42860031T>C	ENSP00000401060:p.Tyr247Cys					PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247C	p.Y247C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	1025	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		247			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.740A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609051	0.87258	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94086	0.7348	10	0.87932	D	0	-3.2687	15.3353	0.74247	0.0:0.0:0.0:1.0	.	247	Q96MT3	PRIC1_HUMAN	C	247	ENSP00000401060:Y247C;ENSP00000398947:Y247C;ENSP00000448359:Y247C;ENSP00000345064:Y247C;ENSP00000449819:Y247C	ENSP00000345064:Y247C	Y	-	2	0	PRICKLE1	41146298	1.000000	0.71417	0.834000	0.33040	0.995000	0.86356	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	TAT		0.522	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			12	57	0	0	0	0.387290	0	12	57				
ANAPC5	51433	broad.mit.edu	37	12	121766258	121766258	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:121766258C>T	ENST00000261819.3	-	10	1286	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ANAPC5_ENST00000441917.2_Missense_Mutation_p.A277T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A277T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A376T|ANAPC5_ENST00000536366.1_Silent_p.E210E|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A55T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	389					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGCAAAAGCTCTCTGTTGA	0.488																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1165-1167)Gct>Act		anaphase promoting complex subunit 5							125.0	101.0	109.0					12																	121766258		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766258C>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1165G>A	12.37:g.121766258C>T	ENSP00000261819:p.Ala389Thr					ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Silent_p.E210E|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A376T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A277T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A55T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A277T	p.A389T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			10	1286	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		389					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1165G>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431404	0.96150	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000344395	.	.	.	5.74	5.74	0.90152	.	0.045011	0.85682	D	0.000000	T	0.66839	0.2830	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	D;P;P	0.63283	0.913;0.755;0.82	T	0.69018	-0.5256	9	0.87932	D	0	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	55;277;389	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	T	277;376;389;55;277	.	ENSP00000261819:A389T	A	-	1	0	ANAPC5	120250641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.715000	0.92844	0.655000	0.94253	GCT		0.488	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			8	60	0	0	0	0.335167	0	8	60				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		2	10	0	0	0	0.115264	0	2	10				
BRD8	10902	broad.mit.edu	37	5	137504371	137504371	+	Intron	SNP	G	G	A			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr5:137504371G>A	ENST00000254900.5	-	8	1014				BRD8_ENST00000402931.1_Intron|BRD8_ENST00000230901.5_Missense_Mutation_p.P217S|BRD8_ENST00000411594.2_Missense_Mutation_p.P217S|BRD8_ENST00000455658.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8						cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGTCCCGGGGGTTACCTAA	0.483																																						ENST00000230901.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(649-651)Ccc>Tcc		bromodomain containing 8							28.0	30.0	29.0					5																	137504371		2203	4300	6503	SO:0001627	intron_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137504371G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.642+539C>T	5.37:g.137504371G>A						BRD8_ENST00000254900.5_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.P217S|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000402931.1_Intron	p.P217S	NM_006696.3	NP_006687.3	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	664	-			177					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.649C>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285272	0.23478	.	.	ENSG00000112983	ENST00000454473;ENST00000418329;ENST00000230901;ENST00000411594;ENST00000239899	T;T;T;T	0.30714	1.52;1.52;1.69;1.52	6.17	6.17	0.99709	.	.	.	.	.	T	0.30103	0.0754	N	0.19112	0.55	0.80722	D	1	P;P;P;P	0.50819	0.9;0.939;0.939;0.939	B;P;P;P	0.49708	0.288;0.482;0.62;0.482	T	0.01273	-1.1399	9	0.44086	T	0.13	.	14.9956	0.71428	0.0:0.1421:0.8579:0.0	.	217;217;77;217	A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2	.;.;.;.	S	212;212;217;217;77	ENSP00000398067:P212S;ENSP00000398873:P212S;ENSP00000230901:P217S;ENSP00000394330:P217S	ENSP00000230901:P217S	P	-	1	0	BRD8	137532270	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.657000	0.61490	2.941000	0.99782	0.655000	0.94253	CCC		0.483	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		7	50	0	0	0	0.248553	0	7	50				
NAV2	89797	broad.mit.edu	37	11	20113839	20113839	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr11:20113839T>C	ENST00000396087.3	+	31	6016	c.5917T>C	c.(5917-5919)Tcc>Ccc	p.S1973P	NAV2_ENST00000533917.1_Missense_Mutation_p.S978P|NAV2_ENST00000360655.4_Missense_Mutation_p.S1850P|NAV2_ENST00000540292.1_Missense_Mutation_p.S1904P|NAV2_ENST00000527559.2_Missense_Mutation_p.S1902P|NAV2_ENST00000349880.4_Missense_Mutation_p.S1914P|NAV2_ENST00000396085.1_Missense_Mutation_p.S1917P|NAV2_ENST00000311043.8_Missense_Mutation_p.S978P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1973					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTCCCAAGTGTCCATCTCTGC	0.567																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5749-5751)Tcc>Ccc		neuron navigator 2							79.0	84.0	82.0					11																	20113839		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20113839T>C	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5917T>C	11.37:g.20113839T>C	ENSP00000379396:p.Ser1973Pro					NAV2_ENST00000533917.1_Missense_Mutation_p.S978P|NAV2_ENST00000540292.1_Missense_Mutation_p.S1904P|NAV2_ENST00000396087.3_Missense_Mutation_p.S1973P|NAV2_ENST00000527559.2_Missense_Mutation_p.S1902P|NAV2_ENST00000311043.8_Missense_Mutation_p.S978P|NAV2_ENST00000360655.4_Missense_Mutation_p.S1850P|NAV2_ENST00000349880.4_Missense_Mutation_p.S1914P	p.S1917P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			29	6110	+			1973					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5749T>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353123	0.82132	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.38401	1.14;1.21;1.24;1.28;1.17;1.17;2.77;2.77	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.49098	0.1537	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.85130	0.987;0.997;0.991;0.876	T	0.38243	-0.9670	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1917;978;1914;1850	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	P	1850;1917;1914;1973;1902;1904;978;978	ENSP00000353871:S1850P;ENSP00000379394:S1917P;ENSP00000309577:S1914P;ENSP00000379396:S1973P;ENSP00000435395:S1902P;ENSP00000443489:S1904P;ENSP00000437316:S978P;ENSP00000312169:S978P	.	S	+	1	0	NAV2	20070415	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TCC		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	147	0	0	0	0.150653	0	3	147				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		5	49	0	0	0	0.217242	0	5	49				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	41	0	0	0	0.184627	0	4	41				
MYLK	4638	broad.mit.edu	37	3	123419239	123419239	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr3:123419239C>T	ENST00000475616.1	-	15	3075	c.3076G>A	c.(3076-3078)Gtg>Atg	p.V1026M	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.V1026M|MYLK_ENST00000346322.5_Missense_Mutation_p.V957M|MYLK_ENST00000359169.1_Missense_Mutation_p.V1026M|MYLK_ENST00000360304.3_Missense_Mutation_p.V1026M			Q15746	MYLK_HUMAN	myosin light chain kinase	1026	6 X 12 AA approximate tandem repeats.				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)		GCGTTGCCCACGGGTTTCAAG	0.602																																						ENST00000360772.3																			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.(3076-3078)Gtg>Atg		myosin light chain kinase							115.0	120.0	119.0					3																	123419239		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419239C>T	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.3076G>A	3.37:g.123419239C>T	ENSP00000418335:p.Val1026Met					MYLK_ENST00000360304.3_Missense_Mutation_p.V1026M|MYLK_ENST00000346322.5_Missense_Mutation_p.V957M|MYLK_ENST00000359169.1_Missense_Mutation_p.V1026M|MYLK_ENST00000475616.1_Missense_Mutation_p.V1026M	p.V1026M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3454	-		Lung NSC(201;0.0496)	1026			6 X 12 AA approximate tandem repeats.		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.3076G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342856	0.01277	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66638	-0.22;-0.17;-0.22;-0.16;-0.17	5.53	-11.1	0.00147	.	.	.	.	.	T	0.39172	0.1068	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.28026	0.009;0.013;0.099;0.198;0.045;0.009	B;B;B;B;B;B	0.20384	0.005;0.003;0.014;0.029;0.009;0.004	T	0.08351	-1.0726	9	0.21540	T	0.41	.	6.6765	0.23098	0.0623:0.4359:0.2795:0.2223	.	1026;104;957;1026;957;1026	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	M	1026;1026;1026;957;1026	ENSP00000354004:V1026M;ENSP00000353452:V1026M;ENSP00000352088:V1026M;ENSP00000320622:V957M;ENSP00000418335:V1026M	ENSP00000320622:V957M	V	-	1	0	MYLK	124901929	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-3.773000	0.00370	-3.149000	0.00231	-0.505000	0.04504	GTG		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	250	0	0	0	0.184627	0	5	250				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	42	0	0	0	0.184627	0	4	42				
LRRC37B	114659	broad.mit.edu	37	17	30349698	30349698	+	Silent	SNP	A	A	G			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr17:30349698A>G	ENST00000341671.7	+	1	1538	c.1533A>G	c.(1531-1533)gaA>gaG	p.E511E	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Silent_p.E429E|LRRC37B_ENST00000327564.7_Silent_p.E538E|LRRC37B_ENST00000584368.1_Silent_p.E523E|LRRC37B_ENST00000394713.3_Silent_p.E511E	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	511						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CACCAGAGGAACAGAAGGCCT	0.517																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1612-1614)gaA>gaG		leucine rich repeat containing 37B							86.0	80.0	82.0					17																	30349698		2202	4299	6501	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30349698A>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1533A>G	17.37:g.30349698A>G						LRRC37B_ENST00000584368.1_Silent_p.E523E|LRRC37B_ENST00000394713.3_Silent_p.E511E|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Silent_p.E429E|LRRC37B_ENST00000341671.7_Silent_p.E511E	p.E538E			Q96QE4	LR37B_HUMAN			1	1675	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	511					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.1614A>G	CCDS32609.1																																																																																				0.517	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		3	178	0	0	0	0.115264	0	3	178				
INTS3	65123	broad.mit.edu	37	1	153713819	153713819	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:153713819T>C	ENST00000318967.2	+	3	861	c.293T>C	c.(292-294)cTc>cCc	p.L98P	INTS3_ENST00000435409.2_Missense_Mutation_p.L98P|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	98					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCTCATCCTCACTGAACCT	0.488																																						ENST00000318967.2																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(292-294)cTc>cCc		integrator complex subunit 3							128.0	126.0	127.0					1																	153713819		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153713819T>C	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.293T>C	1.37:g.153713819T>C	ENSP00000318641:p.Leu98Pro					INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.L98P	p.L98P	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	861	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		98					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.293T>C	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964190	0.74131	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.78107	-0.2333	9	0.87932	D	0	.	14.0819	0.64929	0.0:0.0:0.0:1.0	.	98	Q68E01-2	.	P	98	.	ENSP00000318641:L98P	L	+	2	0	INTS3	151980443	1.000000	0.71417	0.998000	0.56505	0.455000	0.32408	7.261000	0.78400	2.208000	0.71279	0.482000	0.46254	CTC		0.488	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		3	206	0	0	0	0.115264	0	3	206				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	39	0	0	0	0.115264	0	3	39				
CCDC110	256309	broad.mit.edu	37	4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1093-1095)gGc>gAc		coiled-coil domain containing 110							138.0	145.0	142.0					4																	186380647		2203	4299	6502	SO:0001583	missense	256309					nucleus		g.chr4:186380647C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1094G>A	4.37:g.186380647C>T	ENSP00000306776:p.Gly365Asp					CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D	p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1169	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	365					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1094G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.267	-0.995739	0.02145	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05855	3.38;3.39;3.39	4.83	1.06	0.20224	.	1.031690	0.07655	N	0.932585	T	0.03695	0.0105	N	0.13043	0.29	0.20926	N	0.999826	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.47947	-0.9077	10	0.12430	T	0.62	0.6331	6.5267	0.22305	0.0:0.5718:0.0:0.4282	.	365;328;365	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	328;365;365	ENSP00000377172:G328D;ENSP00000306776:G365D;ENSP00000427246:G365D	ENSP00000306776:G365D	G	-	2	0	CCDC110	186617641	0.132000	0.22450	0.656000	0.29637	0.835000	0.47333	0.220000	0.17660	0.317000	0.23160	0.650000	0.86243	GGC		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		4	225	0	0	0	0.150653	0	4	225				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		4	197	1	0	0.184627	0.184627	0.202494	4	197				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240795	39240795	+	Missense_Mutation	SNP	A	A	T	rs541163988|rs553572799|rs9894966	byFrequency	TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr17:39240795A>T	ENST00000391417.4	+	1	337	c.337A>T	c.(337-339)Agc>Tgc	p.S113C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	138	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgccgccccagctgctgccg	0.667																																						ENST00000391417.4																			3	Substitution - Missense(1)|Unknown(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(337-339)Agc>Tgc		keratin associated protein 4-7							13.0	14.0	14.0					17																	39240795		692	1589	2281	SO:0001583	missense	100132476							g.chr17:39240795A>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.337A>T	17.37:g.39240795A>T	ENSP00000375236:p.Ser113Cys						p.S113C	NM_033061.3	NP_149050.3					1	337	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.337A>T	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	2.613	-0.290379	0.05568	.	.	ENSG00000240871	ENST00000391417	T	0.00640	6.03	2.73	1.42	0.22433	.	2.038930	0.02697	N	0.111300	T	0.00666	0.0022	.	.	.	0.20403	N	0.999909	B	0.09022	0.002	B	0.12837	0.008	T	0.46190	-0.9209	9	0.56958	D	0.05	.	3.0387	0.06130	0.5149:0.2451:0.0:0.24	rs9894966	168	Q9BYR0	KRA47_HUMAN	C	113	ENSP00000375236:S113C	ENSP00000375236:S113C	S	+	1	0	KRTAP4-7	36494321	0.000000	0.05858	0.056000	0.19401	0.021000	0.10359	-0.332000	0.07904	0.986000	0.38683	0.240000	0.17902	AGC		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	14	0	0	0	0.115264	0	3	14				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	13	0	0	0	0.150653	0	3	13				
KCNK1	3775	broad.mit.edu	37	1	233750036	233750036	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:233750036T>A	ENST00000366621.3	+	1	287	c.119T>A	c.(118-120)gTc>gAc	p.V40D		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	40					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GGCGCAGTGGTCTTCTCCTCG	0.657																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(118-120)gTc>gAc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						39.0	37.0	38.0					1																	233750036		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233750036T>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.119T>A	1.37:g.233750036T>A	ENSP00000355580:p.Val40Asp						p.V40D	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			1	287	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	40					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.119T>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611446	0.66558	.	.	ENSG00000135750	ENST00000366621	T	0.26957	1.7	4.02	2.88	0.33553	.	0.138089	0.47852	D	0.000214	T	0.38108	0.1028	M	0.83384	2.64	0.80722	D	1	D	0.55385	0.971	P	0.49012	0.598	T	0.31194	-0.9952	10	0.87932	D	0	.	8.9988	0.36069	0.0:0.0906:0.0:0.9094	.	40	O00180	KCNK1_HUMAN	D	40	ENSP00000355580:V40D	ENSP00000355580:V40D	V	+	2	0	KCNK1	231816659	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	5.724000	0.68500	0.422000	0.26005	-0.326000	0.08463	GTC		0.657	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		6	31	0	0	0	0.248553	0	6	31				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	95	0	0	0	0.479597	0	14	95				
UNC13A	23025	broad.mit.edu	37	19	17728579	17728579	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr19:17728579G>A	ENST00000519716.2	-	41	4489	c.4490C>T	c.(4489-4491)gCc>gTc	p.A1497V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A1470V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A1472V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A1497V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1497V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A1585V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1497	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GAGCGACAGGGCATAGCGCAA	0.602																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4753-4755)gCc>gTc		unc-13 homolog A (C. elegans)							101.0	110.0	107.0					19																	17728579		2089	4240	6329	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17728579G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4490C>T	19.37:g.17728579G>A	ENSP00000429562:p.Ala1497Val					UNC13A_ENST00000552293.1_Missense_Mutation_p.A1472V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A1497V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1497V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A1497V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A1470V	p.A1585V			Q9UPW8	UN13A_HUMAN			42	4753	-			1497			C2 3.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4754C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945581	0.73672	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	4.01	4.01	0.46588	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.81682	2.555	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.86216	0.1628	10	0.45353	T	0.12	-26.2432	13.9609	0.64177	0.0:0.0:1.0:0.0	.	1497	Q9UPW8	UN13A_HUMAN	V	1497;1585;1497;1497;1472;1470	ENSP00000429562:A1497V;ENSP00000400409:A1585V;ENSP00000252773:A1497V;ENSP00000447236:A1497V;ENSP00000447572:A1472V;ENSP00000446831:A1470V	ENSP00000252773:A1497V	A	-	2	0	UNC13A	17589579	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	9.684000	0.98659	1.952000	0.56665	0.313000	0.20887	GCC		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	136	0	0	0	0.184627	0	4	136				
