#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
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		6	348	0	0	0	1	0	6	348				
ABHD8	79575	broad.mit.edu	37	19	17412054	17412054	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr19:17412054C>T	ENST00000247706.3	-	2	611	c.372G>A	c.(370-372)ccG>ccA	p.P124P	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	124							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGCTGCCCGCCGGATCTGCCA	0.746																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(370-372)ccG>ccA		abhydrolase domain containing 8							9.0	10.0	9.0					19																	17412054		1912	3829	5741	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17412054C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.372G>A	19.37:g.17412054C>T						MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P124P	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	611	-			124					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.372G>A	CCDS12355.1																																																																																				0.746	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	29	0	0	0	1	0	3	29				
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1843-1845)gaG>gaA		kinesin family member 21A							85.0	82.0	83.0					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T						KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		3	55	0	0	0	1	0	3	55				
DTX4	23220	broad.mit.edu	37	11	58959666	58959666	+	Silent	SNP	A	A	G			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr11:58959666A>G	ENST00000227451.3	+	6	1421	c.1317A>G	c.(1315-1317)agA>agG	p.R439R	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.R333R	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	439					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGCTGTCCAGATGCGGCCACG	0.592																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1315-1317)agA>agG		deltex homolog 4 (Drosophila)							121.0	120.0	120.0					11																	58959666		2035	4168	6203	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58959666A>G	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1317A>G	11.37:g.58959666A>G						DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.R333R	p.R439R	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			6	1421	+		all_epithelial(135;0.125)	439					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.1317A>G	CCDS44612.1																																																																																				0.592	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		23	120	0	0	0	1	0	23	120				
ARNT2	9915	broad.mit.edu	37	15	80767549	80767549	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr15:80767549G>A	ENST00000303329.4	+	5	772	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ARNT2_ENST00000533983.1_Missense_Mutation_p.E192K|ARNT2_ENST00000527771.1_Missense_Mutation_p.E192K|ARNT2_ENST00000531595.3_3'UTR	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	203	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTGCACCTCAGAAAACTCAAT	0.507																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(574-576)Gaa>Aaa		aryl-hydrocarbon receptor nuclear translocator 2							79.0	79.0	79.0					15																	80767549		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80767549G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.607G>A	15.37:g.80767549G>A	ENSP00000307479:p.Glu203Lys					ARNT2_ENST00000303329.4_Missense_Mutation_p.E203K|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.E192K	p.E192K			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		6	913	+			203			PAS 1.		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.574G>A	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532256	0.85812	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.06933	3.24	4.37	4.37	0.52481	PAS (2);PAS fold (1);	0.232862	0.43747	D	0.000521	T	0.30103	0.0754	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.973	T	0.08576	-1.0715	10	0.87932	D	0	.	17.1224	0.86705	0.0:0.0:1.0:0.0	.	203;203	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	K	192;203;203	ENSP00000307479:E203K	ENSP00000307479:E203K	E	+	1	0	ARNT2	78554604	1.000000	0.71417	0.933000	0.37362	0.722000	0.41435	8.792000	0.91856	2.253000	0.74438	0.448000	0.29417	GAA		0.507	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			18	71	0	0	0	1	0	18	71				
SLITRK4	139065	broad.mit.edu	37	X	142717979	142717979	+	Missense_Mutation	SNP	C	C	A	rs142699085	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:142717979C>A	ENST00000381779.4	-	2	1171	c.946G>T	c.(946-948)Gtt>Ttt	p.V316F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316F	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	316						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTGCAACGATTCCAGAG	0.473																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(946-948)Gtt>Ttt		SLIT and NTRK-like family, member 4		C	PHE/VAL,PHE/VAL,PHE/VAL	0,3835		0,0,0,1632,571	156.0	140.0	145.0		946,946,946	5.9	1.0	X	dbSNP_134	145	1,6727		0,0,1,2428,1871	no	missense,missense,missense	SLITRK4	NM_001184749.1,NM_001184750.1,NM_173078.3	50,50,50	0,0,1,4060,2442	AA,AC,A,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	316/838,316/838,316/838	142717979	1,10562	2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717979C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.946G>T	X.37:g.142717979C>A	ENSP00000371198:p.Val316Phe					SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316F	p.V316F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1171	-	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.946G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.405941	0.25378	0.0	1.49E-4	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.53857	0.6;0.6;0.6	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	L	0.29908	0.895	0.80722	D	1	B	0.33135	0.399	B	0.34346	0.18	T	0.45804	-0.9236	10	0.56958	D	0.05	-8.7004	17.551	0.87875	0.0:1.0:0.0:0.0	.	316	Q8IW52	SLIK4_HUMAN	F	316	ENSP00000371198:V316F;ENSP00000349400:V316F;ENSP00000336627:V316F	ENSP00000336627:V316F	V	-	1	0	SLITRK4	142545645	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	4.627000	0.61276	2.471000	0.83476	0.600000	0.82982	GTT		0.473	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		27	121	1	0	2.79863e-10	1	2.96326e-10	27	121				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|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_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	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	82	0	0	0	1	0	4	82				
RNF8	9025	broad.mit.edu	37	6	37328329	37328329	+	Silent	SNP	A	A	G	rs184803752	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr6:37328329A>G	ENST00000373479.4	+	2	412	c.219A>G	c.(217-219)caA>caG	p.Q73Q	RNF8_ENST00000479516.1_3'UTR|RN7SL273P_ENST00000481561.2_RNA|RNF8_ENST00000469731.1_Silent_p.Q73Q|RNF8_ENST00000394443.4_Silent_p.Q73Q	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	73	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTGAGGGCCAATGGACAATTA	0.368													A|||	2	0.000399361	0.0	0.0	5008	,	,		19529	0.002		0.0	False		,,,				2504	0.0					ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(217-219)caA>caG		ring finger protein 8, E3 ubiquitin protein ligase							108.0	100.0	103.0					6																	37328329		2203	4300	6503	SO:0001819	synonymous_variant	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37328329A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.219A>G	6.37:g.37328329A>G						RNF8_ENST00000394443.4_Silent_p.Q73Q|RNF8_ENST00000469731.1_Silent_p.Q73Q|RNF8_ENST00000479516.1_3'UTR	p.Q73Q	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			2	412	+			73			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	ENST00000373479.4	37	c.219A>G	CCDS4834.1																																																																																				0.368	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			14	64	0	0	0	1	0	14	64				
ADAM11	4185	broad.mit.edu	37	17	42854139	42854139	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr17:42854139C>T	ENST00000200557.6	+	19	1762	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	ADAM11_ENST00000535346.1_Silent_p.D331D	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	531	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACAAGCTGGACGGTTACTACT	0.607																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1591-1593)gaC>gaT		ADAM metallopeptidase domain 11							117.0	102.0	107.0					17																	42854139		2203	4300	6503	SO:0001819	synonymous_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42854139C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1593C>T	17.37:g.42854139C>T						ADAM11_ENST00000535346.1_Silent_p.D331D	p.D531D	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			19	1762	+		Prostate(33;0.0959)	531			Disintegrin.		Q14808|Q14809|Q14810	Silent	SNP	ENST00000200557.6	37	c.1593C>T	CCDS11486.1																																																																																				0.607	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		31	53	0	0	0	1	0	31	53				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	7	0	0	0	1	0	3	7				
TEP1	7011	broad.mit.edu	37	14	20837625	20837625	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr14:20837625G>A	ENST00000262715.5	-	53	7574	c.7534C>T	c.(7534-7536)Cca>Tca	p.P2512S	TEP1_ENST00000556935.1_Missense_Mutation_p.P2404S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2512					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGTTTCTGGAGTGTTTGCT	0.507																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(7534-7536)Cca>Tca		telomerase-associated protein 1							237.0	213.0	221.0					14																	20837625		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20837625G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7534C>T	14.37:g.20837625G>A	ENSP00000262715:p.Pro2512Ser					TEP1_ENST00000556935.1_Missense_Mutation_p.P2404S	p.P2512S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	53	7574	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2512					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.7534C>T	CCDS9548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.884436|1.884436	0.33255|0.33255	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935|ENST00000553984	T;T|.	0.50277|.	0.75;0.8|.	4.15|4.15	3.25|3.25	0.37280|0.37280	.|.	1.175540|.	0.05955|.	N|.	0.639553|.	T|T	0.35307|0.35307	0.0927|0.0927	L|L	0.36672|0.36672	1.1|1.1	0.20703|0.20703	N|N	0.999869|0.999869	B;B;B|.	0.30851|.	0.297;0.297;0.197|.	B;B;B|.	0.28784|.	0.094;0.094;0.043|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.15499|.	T|.	0.54|.	-4.4877|-4.4877	7.8705|7.8705	0.29563|0.29563	0.1118:0.0:0.8882:0.0|0.1118:0.0:0.8882:0.0	.|.	2404;1855;2512|.	G3V5X7;G3V2A4;Q99973|.	.;.;TEP1_HUMAN|.	S|F	2512;2504;2404|168	ENSP00000262715:P2512S;ENSP00000452574:P2404S|.	ENSP00000262715:P2512S|.	P|S	-|-	1|2	0|0	TEP1|TEP1	19907465|19907465	0.108000|0.108000	0.22018|0.22018	0.013000|0.013000	0.15412|0.15412	0.024000|0.024000	0.10985|0.10985	1.050000|1.050000	0.30404|0.30404	1.321000|1.321000	0.45227|0.45227	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	102	0	0	0	1	0	4	102				
FGFR2	2263	broad.mit.edu	37	10	123245036	123245036	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr10:123245036C>T	ENST00000358487.5	-	16	2340	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATTAACACCCCGAAGGACCAG	0.512		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(2068-2070)Ggg>Agg		fibroblast growth factor receptor 2	Palifermin(DB00039)						90.0	82.0	84.0					10																	123245036		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123245036C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2068G>A	10.37:g.123245036C>T	ENSP00000351276:p.Gly690Arg					FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R	p.G690R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	16	2340	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	690			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.2068G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159076	0.94686	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68	5.17	5.17	0.71159	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.99806	4.795	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;0.999;0.999;1.0	D	0.96539	0.9399	10	0.87932	D	0	.	19.0288	0.92946	0.0:1.0:0.0:0.0	.	707;689;601;573;690;602;691;593	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	R	601;691;578;690;573;574;576;282;688;691;688;602;691;691;599	ENSP00000350166:G601R;ENSP00000358057:G578R;ENSP00000351276:G690R;ENSP00000348559:G573R;ENSP00000358056:G574R;ENSP00000358055:G576R;ENSP00000404219:G282R;ENSP00000263451:G688R;ENSP00000410294:G691R;ENSP00000309878:G688R;ENSP00000353262:G602R;ENSP00000358052:G691R;ENSP00000358054:G691R;ENSP00000337665:G599R	ENSP00000337665:G599R	G	-	1	0	FGFR2	123235026	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.690000	0.84178	2.544000	0.85801	0.655000	0.94253	GGG		0.512	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		8	55	0	0	0	1	0	8	55				
ANKHD1	54882	broad.mit.edu	37	5	139908666	139908666	+	Silent	SNP	T	T	G			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr5:139908666T>G	ENST00000360839.2	+	29	6289	c.6135T>G	c.(6133-6135)tcT>tcG	p.S2045S	ANKHD1_ENST00000544120.1_Silent_p.S428S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2045S|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Silent_p.S2045S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2045	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCCCATCTTCAACTGCAA	0.512																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(6133-6135)tcT>tcG		ankyrin repeat and KH domain containing 1							102.0	108.0	106.0					5																	139908666		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139908666T>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6135T>G	5.37:g.139908666T>G						ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2045S|ANKHD1_ENST00000544120.1_Silent_p.S428S|ANKHD1_ENST00000360839.2_Silent_p.S2045S	p.S2045S	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6259	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.6135T>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	2.773	-0.255158	0.05829	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	5.06	2.61	0.31194	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29212	-1.0019	4	.	.	.	.	3.8237	0.08846	0.1292:0.0716:0.1348:0.6644	.	.	.	.	V	536;496	.	.	F	+	1	0	ANKHD1	139888850	0.998000	0.40836	1.000000	0.80357	0.852000	0.48524	0.462000	0.21956	0.387000	0.25024	0.533000	0.62120	TTC		0.512	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		19	32	0	0	0	1	0	19	32				
KCMF1	56888	broad.mit.edu	37	2	85276609	85276609	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr2:85276609C>T	ENST00000409785.4	+	6	1081	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	241							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CGGCAGCATGCCCAGGCAGCA	0.552																																						ENST00000409785.3																			0				ovary(3)	3						c.(721-723)gCc>gTc		potassium channel modulatory factor 1							89.0	100.0	96.0					2																	85276609		2190	4287	6477	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85276609C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.722C>T	2.37:g.85276609C>T	ENSP00000386738:p.Ala241Val						p.A241V	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			6	1081	+			241					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.722C>T	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228303	0.58777	.	.	ENSG00000176407	ENST00000409785	T	0.42513	0.97	5.96	5.96	0.96718	Drought induced 19/ RING finger protein 114 (1);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	N	0.14661	0.345	0.80722	D	1	B	0.23442	0.085	B	0.28849	0.095	T	0.09729	-1.0661	10	0.07813	T	0.8	-10.879	17.9158	0.88950	0.0:1.0:0.0:0.0	.	241	Q9P0J7	KCMF1_HUMAN	V	241	ENSP00000386738:A241V	ENSP00000386738:A241V	A	+	2	0	KCMF1	85130120	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.442000	0.80503	2.832000	0.97577	0.655000	0.94253	GCC		0.552	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		5	60	0	0	0	1	0	5	60				
OR2L2	26246	broad.mit.edu	37	1	248202163	248202163	+	Silent	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr1:248202163G>A	ENST00000366479.2	+	1	690	c.594G>A	c.(592-594)gtG>gtA	p.V198V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGAGCACAGTGTTTTTGAGCA	0.478																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(592-594)gtG>gtA		olfactory receptor, family 2, subfamily L, member 2							310.0	267.0	281.0					1																	248202163		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202163G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.594G>A	1.37:g.248202163G>A						OR2L13_ENST00000366478.2_Intron	p.V198V	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	690	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		198					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.594G>A	CCDS31103.1																																																																																				0.478	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		4	131	0	0	0	1	0	4	131				
ABCC4	10257	broad.mit.edu	37	13	95818472	95818472	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr13:95818472C>T	ENST00000376887.4	-	15	2088	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	ABCC4_ENST00000536256.1_Silent_p.S583S|ABCC4_ENST00000431522.1_Silent_p.S658S|ABCC4_ENST00000412704.1_Silent_p.S658S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	658					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GAGACCAAACCGAAGACTCTG	0.453																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1972-1974)tcG>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						183.0	165.0	171.0					13																	95818472		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95818472C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1974G>A	13.37:g.95818472C>T						ABCC4_ENST00000536256.1_Silent_p.S583S|ABCC4_ENST00000431522.1_Silent_p.S658S|ABCC4_ENST00000412704.1_Silent_p.S658S	p.S658S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			15	2088	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		658					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.1974G>A	CCDS9474.1																																																																																				0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		11	133	0	0	0	1	0	11	133				
PQBP1	10084	broad.mit.edu	37	X	48759214	48759214	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:48759214C>A	ENST00000376563.1	+	4	387	c.187C>A	c.(187-189)Cct>Act	p.P63T	PQBP1_ENST00000247140.4_Missense_Mutation_p.P63T|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Missense_Mutation_p.P63T|PQBP1_ENST00000376566.4_Missense_Mutation_p.P63T|PQBP1_ENST00000447146.2_Missense_Mutation_p.P63T|PQBP1_ENST00000218224.4_Missense_Mutation_p.P63T	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	63	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAGCGGGCTCCCTTACTACTG	0.547																																						ENST00000218224.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						c.(187-189)Cct>Act		polyglutamine binding protein 1							79.0	67.0	71.0					X																	48759214		2203	4300	6503	SO:0001583	missense	10084				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	g.chrX:48759214C>A	AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.187C>A	X.37:g.48759214C>A	ENSP00000365747:p.Pro63Thr					PQBP1_ENST00000396763.1_Missense_Mutation_p.P63T|PQBP1_ENST00000247140.4_Missense_Mutation_p.P63T|PQBP1_ENST00000447146.2_Missense_Mutation_p.P63T|PQBP1_ENST00000376566.4_Missense_Mutation_p.P63T|PQBP1_ENST00000376563.1_Missense_Mutation_p.P63T|PQBP1_ENST00000473764.1_3'UTR	p.P63T	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN			3	441	+			63			WW.		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	ENST00000376563.1	37	c.187C>A	CCDS14309.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277501	0.40294	.	.	ENSG00000102103	ENST00000376563;ENST00000376566;ENST00000447146;ENST00000247140;ENST00000218224;ENST00000396763;ENST00000443648	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.24	5.24	0.73138	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;B;D;D	0.89917	0.997;1.0;0.999;1.0;1.0;0.42;1.0;1.0	D;D;D;D;D;B;D;D	0.91635	0.991;0.999;0.961;0.994;0.998;0.099;0.999;0.999	D	0.85483	0.1180	10	0.22706	T	0.39	-15.4909	14.5549	0.68094	0.0:1.0:0.0:0.0	.	63;63;63;63;63;63;63;63	O60828-5;O60828-6;O60828-2;C9JQA1;O60828-7;O60828-4;O60828-3;O60828	.;.;.;.;.;.;.;PQBP1_HUMAN	T	63	ENSP00000365747:P63T;ENSP00000365750:P63T;ENSP00000391759:P63T;ENSP00000247140:P63T;ENSP00000218224:P63T;ENSP00000379985:P63T;ENSP00000414861:P63T	ENSP00000218224:P63T	P	+	1	0	PQBP1	48644158	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.541000	0.73865	2.413000	0.81919	0.600000	0.82982	CCT		0.547	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1		5	82	1	0	1.23904e-05	1	1.27444e-05	5	82				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	49	0	0	0	1	0	3	49				
HUWE1	10075	broad.mit.edu	37	X	53570843	53570843	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:53570843G>A	ENST00000342160.3	-	72	11795	c.11338C>T	c.(11338-11340)Cgt>Tgt	p.R3780C	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3780C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3780					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R3670C(1)|p.R3780C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCCTCACGTACCATTTGT	0.557																																						ENST00000342160.3																			2	Substitution - Missense(2)	p.R3670C(1)|p.R3780C(1)	endometrium(2)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11338-11340)Cgt>Tgt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							88.0	53.0	65.0					X																	53570843		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53570843G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11338C>T	X.37:g.53570843G>A	ENSP00000340648:p.Arg3780Cys					HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3780C	p.R3780C			Q7Z6Z7	HUWE1_HUMAN			72	11795	-			3780					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11338C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.12|11.12	1.544374|1.544374	0.27563|0.27563	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.38240|.	1.15;1.15|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.160068|.	0.37761|.	N|.	0.001951|.	T|T	0.61426|0.61426	0.2346|0.2346	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.975;1.0|.	B;D|.	0.76575|.	0.165;0.988|.	T|T	0.59010|0.59010	-0.7534|-0.7534	10|5	0.56958|.	D|.	0.05|.	.|.	16.1273|16.1273	0.81404|0.81404	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3780;3764|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	C|M	3780|2813	ENSP00000340648:R3780C;ENSP00000262854:R3780C|.	ENSP00000262854:R3780C|.	R|T	-|-	1|2	0|0	HUWE1|HUWE1	53587568|53587568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.356000|6.356000	0.73046|0.73046	2.057000|2.057000	0.61298|0.61298	0.534000|0.534000	0.68092|0.68092	CGT|ACG		0.557	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		19	21	0	0	0	1	0	19	21				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	7	1	0	0.004672	1	0.004672	3	7				
ATRX	546	broad.mit.edu	37	X	76931778	76931778	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:76931778G>C	ENST00000373344.5	-	10	3966	c.3752C>G	c.(3751-3753)tCt>tGt	p.S1251C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1213C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1251	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CACTGATTTAGATAAGGCTTC	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3751-3753)tCt>tGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						125.0	100.0	108.0					X																	76931778		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76931778G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3752C>G	X.37:g.76931778G>C	ENSP00000362441:p.Ser1251Cys					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1213C	p.S1251C	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			10	3966	-			1251					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3752C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048180	0.36181	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93076	-3.16;-3.16	4.74	3.81	0.43845	.	0.527345	0.17702	N	0.164888	D	0.93621	0.7963	L	0.47716	1.5	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.985	P;P;P	0.56216	0.794;0.794;0.527	D	0.93606	0.6934	10	0.56958	D	0.05	-6.2841	13.9761	0.64275	0.0:0.0:0.8486:0.1514	.	1183;1213;1251	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	C	1251;1213;1178	ENSP00000362441:S1251C;ENSP00000378967:S1213C	ENSP00000362441:S1251C	S	-	2	0	ATRX	76818434	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.677000	0.54619	2.068000	0.61886	0.506000	0.49869	TCT		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	213	0	0	0	1	0	4	213				
NYNRIN	57523	broad.mit.edu	37	14	24884876	24884876	+	Silent	SNP	C	C	T			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr14:24884876C>T	ENST00000382554.3	+	9	4239	c.3921C>T	c.(3919-3921)ttC>ttT	p.F1307F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1307					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGTCCACGTTCGTCTGCATCC	0.622																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3919-3921)ttC>ttT		NYN domain and retroviral integrase containing							173.0	180.0	178.0					14																	24884876		2144	4246	6390	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884876C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3921C>T	14.37:g.24884876C>T							p.F1307F	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4239	+			1307					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3921C>T	CCDS45090.1																																																																																				0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	211	0	0	0	1	0	4	211				
KCNMA1	3778	broad.mit.edu	37	10	78943220	78943220	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr10:78943220G>A	ENST00000286628.8	-	5	766	c.767C>T	c.(766-768)cCc>cTc	p.P256L	KCNMA1_ENST00000372440.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P256L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	256					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AAACACGGGGGGCACCGTGAA	0.458																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(766-768)cCc>cTc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						96.0	85.0	89.0					10																	78943220		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78943220G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.767C>T	10.37:g.78943220G>A	ENSP00000286628:p.Pro256Leu					KCNMA1_ENST00000286628.8_Missense_Mutation_p.P256L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P256L	p.P256L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		5	1719	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		256					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.767C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.045683|5.045683	0.93685|0.93685	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;T;T;T|T	0.51817|0.51071	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69|0.72	5.92|5.92	5.92|5.92	0.95590|0.95590	Ion transport (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.40196|0.40196	0.1107|0.1107	N|N	0.03177|0.03177	-0.4|-0.4	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;0.998;0.999;0.998;0.999;0.998|.	T|T	0.53215|0.53215	-0.8470|-0.8470	10|8	0.87932|0.87932	D|D	0|0	-14.3615|-14.3615	20.3151|20.3151	0.98650|0.98650	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	256;256;256;256;256;256|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.|.	L|S	256;193;191;230;193;256;256;230;256;256;256;38|207	ENSP00000361517:P256L;ENSP00000361485:P193L;ENSP00000361514:P191L;ENSP00000396608:P230L;ENSP00000361520:P256L;ENSP00000286627:P256L;ENSP00000385552:P256L;ENSP00000346321:P256L;ENSP00000385806:P256L|ENSP00000361480:P207S	ENSP00000286627:P256L|ENSP00000361480:P207S	P|P	-|-	2|1	0|0	KCNMA1|KCNMA1	78613226|78613226	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.824000|0.824000	0.46624|0.46624	9.756000|9.756000	0.98918|0.98918	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	CCC|CCC		0.458	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		3	56	0	0	0	1	0	3	56				
GPR128	84873	broad.mit.edu	37	3	100413790	100413790	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr3:100413790C>G	ENST00000273352.3	+	16	2607	c.2339C>G	c.(2338-2340)cCg>cGg	p.P780R	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P485R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	780					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P780L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAAACCTCTCCGAGTACTGAG	0.443																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			1	Substitution - Missense(1)	p.P780L(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(2338-2340)cCg>cGg		G protein-coupled receptor 128							124.0	119.0	120.0					3																	100413790		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100413790C>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2339C>G	3.37:g.100413790C>G	ENSP00000273352:p.Pro780Arg					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P485R	p.P780R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			16	2607	+			780					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.2339C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	c	0.719	-0.784364	0.02907	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.38401	1.14;1.51	5.2	-10.4	0.00318	.	16.475400	0.00166	N	0.000000	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26985	-1.0087	10	0.10377	T	0.69	.	1.1229	0.01728	0.3686:0.2922:0.1868:0.1524	.	485;780	E9PHI0;Q96K78	.;GP128_HUMAN	R	780;485	ENSP00000273352:P780R;ENSP00000419788:P485R	ENSP00000273352:P780R	P	+	2	0	GPR128	101896480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.539000	0.00219	-2.785000	0.00359	-4.252000	0.00008	CCG		0.443	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			11	64	0	0	0	1	0	11	64				
COL12A1	1303	broad.mit.edu	37	6	75799877	75799877	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr6:75799877G>A	ENST00000322507.8	-	63	9199	c.8890C>T	c.(8890-8892)Cgg>Tgg	p.R2964W	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1800W|COL12A1_ENST00000416123.2_Missense_Mutation_p.R2888W|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2960W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2964	Collagen-like 4.|Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGCCTGGCCGCCCCCCAGGC	0.617																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8890-8892)Cgg>Tgg		collagen, type XII, alpha 1							91.0	101.0	98.0					6																	75799877		1838	4088	5926	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75799877G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8890C>T	6.37:g.75799877G>A	ENSP00000325146:p.Arg2964Trp					COL12A1_ENST00000416123.2_Missense_Mutation_p.R2888W|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1800W|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2960W	p.R2964W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			63	9199	-			2964			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8890C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460074	0.63401	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.48	4.53	0.55603	.	0.055900	0.64402	D	0.000002	D	0.92358	0.7575	L	0.49455	1.56	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.61397	0.821;0.888	D	0.86504	0.1805	10	0.66056	D	0.02	.	10.995	0.47571	0.0:0.0:0.5854:0.4146	.	1800;2964	Q99715-2;Q99715	.;COCA1_HUMAN	W	2964;602;2888;1800;2888;2960	ENSP00000325146:R2964W;ENSP00000399812:R602W;ENSP00000305147:R1800W;ENSP00000412864:R2888W;ENSP00000421216:R2960W	ENSP00000325146:R2964W	R	-	1	2	COL12A1	75856597	0.960000	0.32886	0.867000	0.34043	0.876000	0.50452	2.911000	0.48774	2.567000	0.86603	0.655000	0.94253	CGG		0.617	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		8	168	0	0	0	1	0	8	168				
AADACL4	343066	broad.mit.edu	37	1	12726517	12726517	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr1:12726517T>A	ENST00000376221.1	+	4	995	c.995T>A	c.(994-996)gTc>gAc	p.V332D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	332						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATGATGAGGTCATCGCTCAG	0.507																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(994-996)gTc>gAc		arylacetamide deacetylase-like 4							106.0	104.0	105.0					1																	12726517		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726517T>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.995T>A	1.37:g.12726517T>A	ENSP00000365395:p.Val332Asp						p.V332D	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	995	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	332						Missense_Mutation	SNP	ENST00000376221.1	37	c.995T>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675171	0.47781	.	.	ENSG00000204518	ENST00000376221	T	0.61510	0.1	4.38	-7.75	0.01236	Alpha/beta hydrolase fold-3 (1);	0.949461	0.08793	N	0.892927	T	0.53077	0.1774	N	0.13235	0.315	0.19300	N	0.99998	D	0.57899	0.981	P	0.62885	0.908	T	0.55711	-0.8098	10	0.17832	T	0.49	-4.2289	18.4468	0.90686	0.0:0.1024:0.0:0.8976	.	332	Q5VUY2	ADCL4_HUMAN	D	332	ENSP00000365395:V332D	ENSP00000365395:V332D	V	+	2	0	AADACL4	12649104	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.129000	0.10515	-1.774000	0.01288	-0.408000	0.06270	GTC		0.507	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		32	116	0	0	0	1	0	32	116				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	53	0	0	0	1	0	3	53				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	38	0	0	0	1	0	4	38				
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)gagdel	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(157-159)del		coiled-coil domain containing 96				5,52,3685		0,0,5,5,42,1819						1.2	0.0			5	3,138,7455		0,0,3,11,116,3668	no	codingComplex	CCDC96	NM_153376.2		0,0,8,16,158,5487	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8562,1.5232,1.7463				8,190,11140				SO:0001651	inframe_deletion	257236							g.chr4:7044507_7044509delCTC	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.157_159delGAG	4.37:g.7044516_7044518delCTC	ENSP00000309285:p.Glu53del					RP11-367J11.2_ENST00000500031.1_RNA	p.E53del	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	219_221	-			53			Glu-rich.		Q8N2I7	In_Frame_Del	DEL	ENST00000310085.4	37	c.157_159delGAG	CCDS3395.1																																																																																				0.729	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		2	4						2	4	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			653390							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT														0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		7	47						7	47	---	---	---	---
