#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	86	0	0	0	1	0	4	86				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	13	0	0	0	1	0	4	13				
ZNF324B	388569	broad.mit.edu	37	19	58967094	58967094	+	Silent	SNP	G	G	A			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr19:58967094G>A	ENST00000336614.4	+	4	890	c.783G>A	c.(781-783)gcG>gcA	p.A261A	ZNF324B_ENST00000391696.1_Silent_p.A251A|ZNF324B_ENST00000545523.1_Silent_p.A261A	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AATGCAGGGCGTGCAGCAAAG	0.647																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(751-753)gcG>gcA		zinc finger protein 324B							24.0	21.0	22.0					19																	58967094		2201	4275	6476	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967094G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.783G>A	19.37:g.58967094G>A						ZNF324B_ENST00000545523.1_Silent_p.A261A|ZNF324B_ENST00000336614.4_Silent_p.A261A	p.A251A			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1685	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	261					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.753G>A	CCDS33138.1																																																																																				0.647	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		3	24	0	0	0	1	0	3	24				
SEMA5B	54437	broad.mit.edu	37	3	122667454	122667454	+	Missense_Mutation	SNP	A	A	T	rs145228820	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr3:122667454A>T	ENST00000357599.3	-	3	613	c.227T>A	c.(226-228)cTg>cAg	p.L76Q	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.L130Q|SEMA5B_ENST00000195173.4_Missense_Mutation_p.L76Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	76					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGACACCAGCAGTGTGAGGCT	0.637													A|||	11	0.00219649	0.0008	0.0014	5008	,	,		17909	0.001		0.008	False		,,,				2504	0.0					ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(226-228)cTg>cAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		A	GLN/LEU	7,4399	12.9+/-30.5	0,7,2196	51.0	48.0	49.0		227	4.8	1.0	3	dbSNP_134	49	104,8496	57.5+/-118.9	0,104,4196	yes	missense	SEMA5B	NM_001031702.2	113	0,111,6392	TT,TA,AA		1.2093,0.1589,0.8535	possibly-damaging	76/1152	122667454	111,12895	2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122667454A>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.227T>A	3.37:g.122667454A>T	ENSP00000350215:p.Leu76Gln					SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.L76Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.L130Q	p.L76Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	3	530	-			76					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.227T>A	CCDS35491.1	9	0.004120879120879121	1	0.0020325203252032522	0	0.0	0	0.0	8	0.010554089709762533	A	19.33	3.806266	0.70682	0.001589	0.012093	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.37915	1.19;1.17;1.23;1.29	4.81	4.81	0.61882	.	0.000000	0.40908	D	0.000981	T	0.30355	0.0762	N	0.08118	0	0.38008	D	0.934431	D;D;D	0.71674	0.997;0.995;0.998	D;D;D	0.81914	0.991;0.986;0.995	T	0.50311	-0.8843	10	0.66056	D	0.02	.	12.617	0.56582	1.0:0.0:0.0:0.0	.	18;76;76	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	76;76;18;130;76;76;76	ENSP00000350215:L76Q;ENSP00000195173:L76Q;ENSP00000389588:L130Q;ENSP00000377208:L76Q	ENSP00000195173:L76Q	L	-	2	0	SEMA5B	124150144	1.000000	0.71417	0.990000	0.47175	0.904000	0.53231	5.162000	0.64942	2.143000	0.66587	0.528000	0.53228	CTG		0.637	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		3	39	0	0	0	1	0	3	39				
HIC2	23119	broad.mit.edu	37	22	21799594	21799594	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr22:21799594G>A	ENST00000443632.2	+	2	782	c.410G>A	c.(409-411)cGc>cAc	p.R137H	HIC2_ENST00000407464.2_Missense_Mutation_p.R137H|HIC2_ENST00000407598.2_Missense_Mutation_p.R137H			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	137					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTCTGCCGCCGCAAACTCAAG	0.706																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(409-411)cGc>cAc		hypermethylated in cancer 2							13.0	17.0	16.0					22																	21799594		2134	4150	6284	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799594G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.410G>A	22.37:g.21799594G>A	ENSP00000387757:p.Arg137His					HIC2_ENST00000407464.2_Missense_Mutation_p.R137H|HIC2_ENST00000407598.2_Missense_Mutation_p.R137H	p.R137H			Q96JB3	HIC2_HUMAN			2	782	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	137					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.410G>A	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906232	0.72868	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.68025	-0.3;-0.3;-0.3	5.01	5.01	0.66863	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.054750	0.64402	D	0.000002	T	0.66636	0.2809	L	0.31752	0.955	0.34042	D	0.655153	D	0.89917	1.0	D	0.69307	0.963	T	0.66976	-0.5787	10	0.16420	T	0.52	.	9.2696	0.37664	0.0956:0.0:0.9044:0.0	.	137	Q96JB3	HIC2_HUMAN	H	137	ENSP00000385319:R137H;ENSP00000384889:R137H;ENSP00000387757:R137H	ENSP00000385319:R137H	R	+	2	0	HIC2	20129594	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	6.922000	0.75811	2.595000	0.87683	0.561000	0.74099	CGC		0.706	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			4	41	0	0	0	1	0	4	41				
BMS1P20	96610	broad.mit.edu	37	22	22661318	22661318	+	RNA	SNP	T	T	C	rs1044437		TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr22:22661318T>C	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGTGTAGAACTTTGACCCCCG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661318T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661318T>C								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	40	0	0	0	1	0	3	40				
TCERG1L	256536	broad.mit.edu	37	10	132944819	132944819	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr10:132944819T>C	ENST00000368642.4	-	7	1224	c.1139A>G	c.(1138-1140)aAc>aGc	p.N380S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	380										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AATGATCCTGTTGAGGTCTCC	0.542																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1138-1140)aAc>aGc		transcription elongation regulator 1-like							119.0	109.0	112.0					10																	132944819		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132944819T>C	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1139A>G	10.37:g.132944819T>C	ENSP00000357631:p.Asn380Ser						p.N380S	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	7	1224	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	380					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1139A>G	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429928	0.43122	.	.	ENSG00000176769	ENST00000368642	T	0.22134	1.97	4.83	1.0	0.19881	WW/Rsp5/WWP (1);	0.142736	0.43747	D	0.000528	T	0.14399	0.0348	L	0.46157	1.445	0.39909	D	0.974008	B	0.34015	0.435	B	0.27262	0.078	T	0.06427	-1.0827	10	0.72032	D	0.01	-4.4468	5.7274	0.18020	0.0:0.1491:0.2633:0.5877	.	380	Q5VWI1	TCRGL_HUMAN	S	380	ENSP00000357631:N380S	ENSP00000357631:N380S	N	-	2	0	TCERG1L	132834809	0.999000	0.42202	0.996000	0.52242	0.904000	0.53231	2.487000	0.45268	-0.014000	0.14175	0.383000	0.25322	AAC		0.542	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		4	46	0	0	0	1	0	4	46				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	54	0	0	0	1	0	4	54				
GCKR	2646	broad.mit.edu	37	2	27728639	27728639	+	Silent	SNP	C	C	T			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr2:27728639C>T	ENST00000264717.2	+	10	868	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	GCKR_ENST00000424318.2_Silent_p.L79L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	269	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CACCAAGATTCTGCTGGAAAC	0.532																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(805-807)Ctg>Ttg		glucokinase (hexokinase 4) regulator							100.0	90.0	94.0					2																	27728639		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728639C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.805C>T	2.37:g.27728639C>T						GCKR_ENST00000424318.2_Silent_p.L79L	p.L269L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			10	868	+	Acute lymphoblastic leukemia(172;0.155)		269			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.805C>T	CCDS1757.1																																																																																				0.532	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		4	75	0	0	0	1	0	4	75				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	14	0	0	0	1	0	4	14				
EYA4	2070	broad.mit.edu	37	6	133802618	133802618	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr6:133802618C>A	ENST00000367895.5	+	12	1452	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	EYA4_ENST00000431403.2_Missense_Mutation_p.Q330K|EYA4_ENST00000430974.2_Missense_Mutation_p.Q282K|EYA4_ENST00000525849.1_Missense_Mutation_p.Q307K|EYA4_ENST00000355167.3_Missense_Mutation_p.Q330K|EYA4_ENST00000355286.6_Missense_Mutation_p.Q307K|EYA4_ENST00000452339.2_Missense_Mutation_p.Q276K|EYA4_ENST00000531901.1_Missense_Mutation_p.Q336K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	330					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CGATACCATGCAGAGTCCCTC	0.413																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(988-990)Cag>Aag		eyes absent homolog 4 (Drosophila)							122.0	127.0	125.0					6																	133802618		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133802618C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.988C>A	6.37:g.133802618C>A	ENSP00000356870:p.Gln330Lys					EYA4_ENST00000431403.2_Missense_Mutation_p.Q330K|EYA4_ENST00000430974.2_Missense_Mutation_p.Q282K|EYA4_ENST00000452339.2_Missense_Mutation_p.Q276K|EYA4_ENST00000531901.1_Missense_Mutation_p.Q336K|EYA4_ENST00000355286.6_Missense_Mutation_p.Q307K|EYA4_ENST00000525849.1_Missense_Mutation_p.Q307K|EYA4_ENST00000355167.3_Missense_Mutation_p.Q330K	p.Q330K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	12	1452	+	Colorectal(23;0.221)		330					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.988C>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017992	0.35606	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	L	0.44542	1.39	0.80722	D	1	B;B;B;P;B;B	0.46220	0.209;0.036;0.045;0.874;0.022;0.209	B;B;B;P;B;B	0.44946	0.185;0.016;0.019;0.465;0.022;0.185	T	0.70278	-0.4916	10	0.05620	T	0.96	-7.9098	19.7597	0.96309	0.0:1.0:0.0:0.0	.	336;282;276;307;330;330	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	K	276;282;330;330;307;336;307;330	ENSP00000395916:Q276K;ENSP00000388670:Q282K;ENSP00000356870:Q330K;ENSP00000347294:Q330K;ENSP00000347434:Q307K;ENSP00000432770:Q336K;ENSP00000433219:Q307K;ENSP00000404558:Q330K	ENSP00000347294:Q330K	Q	+	1	0	EYA4	133844311	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.590000	0.82653	2.665000	0.90641	0.655000	0.94253	CAG		0.413	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	100	1	0	2.61681e-11	1	2.71027e-11	13	100				
WASH3P	374666	broad.mit.edu	37	15	102515257	102515257	+	RNA	SNP	C	C	T	rs74969461	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr15:102515257C>T	ENST00000557932.1	+	0	1103				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515257C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515257C>T														0	1103	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	N	0.940	-0.709821	0.03230	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.058881	0.64402	N	0.000002	T	0.35508	0.0934	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32719	-0.9896	4	.	.	.	-10.605	4.2952	0.10897	0.3925:0.6075:0.0:0.0	.	.	.	.	W	369;360	.	.	R	+	1	2	WASH3P	100332780	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	2.970000	0.49240	0.863000	0.35553	0.184000	0.17185	CGG		0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	11	0	0	0	1	0	3	11				
CYP4Z2P	163720	broad.mit.edu	37	1	47325354	47325354	+	RNA	SNP	G	G	A	rs4660360		TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr1:47325354G>A	ENST00000505841.1	-	0	1175					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CATCTGGAAAGGTAATGGGTT	0.438																																						ENST00000505841.1																			0																																																			0							g.chr1:47325354G>A	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325354G>A								NR_002788.2						0	1175	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.438	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		9	78	0	0	0	1	0	9	78				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	53	0	0	0	1	0	4	53				
MBIP	51562	broad.mit.edu	37	14	36783808	36783808	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr14:36783808T>C	ENST00000416007.4	-	4	568	c.481A>G	c.(481-483)Aga>Gga	p.R161G	MBIP_ENST00000359527.7_Missense_Mutation_p.R161G|MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.R161G	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	161					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GATATTCGTCTGTCAATCTAC	0.338																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(481-483)Aga>Gga		MAP3K12 binding inhibitory protein 1							63.0	62.0	63.0					14																	36783808		2202	4296	6498	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783808T>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.481A>G	14.37:g.36783808T>C	ENSP00000399718:p.Arg161Gly					MBIP_ENST00000318473.7_Missense_Mutation_p.R161G|MBIP_ENST00000359527.7_Missense_Mutation_p.R161G	p.R161G	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	4	568	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		161					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.481A>G	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.59|15.59	2.877897|2.877897	0.51801|0.51801	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298;ENST00000553549	.|T;T;T	.|0.50277	.|0.75;0.75;0.75	5.84|5.84	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66015|0.66015	0.2747|0.2747	M|M	0.72353|0.72353	2.195|2.195	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D;D;D	.|0.89917	.|0.996;0.998;1.0;0.998	.|P;D;D;D	.|0.71414	.|0.895;0.957;0.973;0.969	T|T	0.68880|0.68880	-0.5292|-0.5292	5|10	.|0.72032	.|D	.|0.01	-13.795|-13.795	13.0942|13.0942	0.59182|0.59182	0.0:0.0:0.1339:0.8661|0.0:0.0:0.1339:0.8661	.|.	.|135;161;161;161	.|B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;.;MBIP1_HUMAN	R|G	157|161;161;161;168;121;140	.|ENSP00000399718:R161G;ENSP00000324444:R161G;ENSP00000352517:R161G	.|ENSP00000324444:R161G	Q|R	-|-	2|1	0|2	MBIP|MBIP	35853559|35853559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.646000|4.646000	0.61411|0.61411	1.010000|1.010000	0.39314|0.39314	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.338	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		5	31	0	0	0	1	0	5	31				
KIAA0556	23247	broad.mit.edu	37	16	27761090	27761090	+	Missense_Mutation	SNP	G	G	T	rs139603388	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr16:27761090G>T	ENST00000261588.4	+	16	2828	c.2809G>T	c.(2809-2811)Gac>Tac	p.D937Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	937						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCGGCACAGCGACTTGCCCCC	0.637													G|||	6	0.00119808	0.0	0.0014	5008	,	,		17502	0.0		0.001	False		,,,				2504	0.0041					ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2809-2811)Gac>Tac		KIAA0556		G	TYR/ASP	1,4393	2.1+/-5.4	0,1,2196	33.0	34.0	34.0		2809	2.6	0.0	16	dbSNP_134	34	24,8576	16.6+/-54.9	0,24,4276	yes	missense	KIAA0556	NM_015202.2	160	0,25,6472	TT,TG,GG		0.2791,0.0228,0.1924	benign	937/1619	27761090	25,12969	2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761090G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2809G>T	16.37:g.27761090G>T	ENSP00000261588:p.Asp937Tyr						p.D937Y	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			16	2828	+			937					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2809G>T	CCDS32415.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	14.20	2.463792	0.43736	2.28E-4	0.002791	ENSG00000047578	ENST00000261588	T	0.10288	2.89	4.59	2.62	0.31277	.	0.853808	0.10444	N	0.673897	T	0.11153	0.0272	L	0.44542	1.39	0.09310	N	1	B	0.16396	0.017	B	0.17722	0.019	T	0.27434	-1.0074	10	0.62326	D	0.03	-17.8901	8.898	0.35476	0.1767:0.0:0.8233:0.0	.	937	O60303	K0556_HUMAN	Y	937	ENSP00000261588:D937Y	ENSP00000261588:D937Y	D	+	1	0	KIAA0556	27668591	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	1.182000	0.32029	0.482000	0.27582	-0.137000	0.14449	GAC		0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		3	40	1	0	0.115264	1	0.115264	3	40				
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			0							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	4						2	4	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		9	111						9	111	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		4	2						4	2	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12777488	12777488	+	Frame_Shift_Del	DEL	C	C	-	rs558131886	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr19:12777488delC	ENST00000456935.2	-	1	68	c.28delG	c.(28-30)gtcfs	p.V10fs	WDR83_ENST00000418543.3_5'Flank|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.V10fs|CTD-2192J16.24_ENST00000597961.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	10					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAGCGCAGACCCCCGAAGCC	0.721																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(28-30)tcfs		mannosidase, alpha, class 2B, member 1							3.0	5.0	4.0					19																	12777488		1842	3799	5641	SO:0001589	frameshift_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12777488delC		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.28delG	19.37:g.12777488delC	ENSP00000395473:p.Val10fs					CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.V10fs	p.V10fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			1	68	-			10					G5E928|O15330|Q16680|Q93094|Q9BW13	Frame_Shift_Del	DEL	ENST00000456935.2	37	c.28delG	CCDS32919.1																																																																																				0.721	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			2	4						2	4	---	---	---	---
