#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
CHD3	1107	broad.mit.edu	37	17	7802767	7802767	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:7802767C>T	ENST00000330494.7	+	15	2600	c.2450C>T	c.(2449-2451)aCg>aTg	p.T817M	CHD3_ENST00000380358.4_Missense_Mutation_p.T876M|CHD3_ENST00000358181.4_Missense_Mutation_p.T817M	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	817	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGACATACACGGGTGACAAG	0.493																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2626-2628)aCg>aTg		chromodomain helicase DNA binding protein 3							144.0	140.0	141.0					17																	7802767		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7802767C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2450C>T	17.37:g.7802767C>T	ENSP00000332628:p.Thr817Met					CHD3_ENST00000358181.4_Missense_Mutation_p.T817M|CHD3_ENST00000330494.7_Missense_Mutation_p.T817M	p.T876M	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			15	2628	+		Prostate(122;0.202)	817			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2627C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231990	0.58777	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93133	-3.17;-3.17;-3.17	5.06	5.06	0.68205	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47093	D	0.000241	D	0.95207	0.8446	L	0.41079	1.255	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.95462	0.8544	10	0.72032	D	0.01	-20.0922	19.0357	0.92976	0.0:1.0:0.0:0.0	.	817;817;876	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	M	876;817;817	ENSP00000369716:T876M;ENSP00000350907:T817M;ENSP00000332628:T817M	ENSP00000332628:T817M	T	+	2	0	CHD3	7743492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.216000	0.51176	2.809000	0.96659	0.555000	0.69702	ACG		0.493	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	165	0	0	0	1	0	4	165				
SERTM1	400120	broad.mit.edu	37	13	37269242	37269242	+	Silent	SNP	A	A	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr13:37269242A>T	ENST00000315190.3	+	2	473	c.27A>T	c.(25-27)ggA>ggT	p.G9G		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	9						integral component of membrane (GO:0016021)											CTTCCTCAGGATTTTCGGGAA	0.478																																						ENST00000315190.3																			0											c.(25-27)ggA>ggT		serine-rich and transmembrane domain containing 1							118.0	113.0	114.0					13																	37269242		2203	4300	6503	SO:0001819	synonymous_variant	400120					integral to membrane		g.chr13:37269242A>T		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.27A>T	13.37:g.37269242A>T							p.G9G	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	473	+			9					Q8N469	Silent	SNP	ENST00000315190.3	37	c.27A>T	CCDS9358.1																																																																																				0.478	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		26	56	0	0	0	1	0	26	56				
ARHGEF40	55701	broad.mit.edu	37	14	21549078	21549078	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr14:21549078C>T	ENST00000298694.4	+	13	2670	c.2543C>T	c.(2542-2544)gCc>gTc	p.A848V	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A848V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	848						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAGGAGAATGCCACCTCCCAG	0.642																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2542-2544)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 40							77.0	77.0	77.0					14																	21549078		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21549078C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2543C>T	14.37:g.21549078C>T	ENSP00000298694:p.Ala848Val					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A848V	p.A848V			Q8TER5	ARH40_HUMAN			13	2670	+			848					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2543C>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	2.232	-0.375854	0.05034	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02421	4.36;4.3	5.52	2.68	0.31781	.	1.307500	0.05148	N	0.495565	T	0.01661	0.0053	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.45527	-0.9255	10	0.13108	T	0.6	.	6.5485	0.22420	0.0:0.7095:0.0:0.2905	.	848;848	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	V	848	ENSP00000298694:A848V;ENSP00000298693:A848V	ENSP00000298693:A848V	A	+	2	0	ARHGEF40	20618918	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	0.449000	0.21744	0.666000	0.31087	0.555000	0.69702	GCC		0.642	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			4	128	0	0	0	1	0	4	128				
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788.0	697.0	725.0					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	916	0	0	0	1	0	7	916				
PCDHA7	56141	broad.mit.edu	37	5	140215201	140215201	+	Silent	SNP	C	C	T	rs145763112		TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr5:140215201C>T	ENST00000525929.1	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S411S|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGCGCTCTGGACC	0.597																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1231-1233)agC>agT									125.0	124.0	125.0					5																	140215201		2203	4300	6503	SO:0001819	synonymous_variant	56141							g.chr5:140215201C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1233C>T	5.37:g.140215201C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S411S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.S411S	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1233	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1233C>T	CCDS54918.1																																																																																				0.597	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		5	133	0	0	0	1	0	5	133				
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr15:102292953T>C	ENST00000561463.1	+	0	999									DNM1 pseudogene 47																		GGCACAGCGGTGCGACGAGAT	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292953T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292953T>C														0	999	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	11	0	0	0	1	0	3	11				
NBEAL2	23218	broad.mit.edu	37	3	47043265	47043265	+	Silent	SNP	G	G	A	rs142878502	byFrequency	TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr3:47043265G>A	ENST00000450053.3	+	30	4910	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A	NBEAL2_ENST00000292309.5_Silent_p.A1393A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1577					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGAGATGGCGCAGATTGGCC	0.602													G|||	5	0.000998403	0.0038	0.0	5008	,	,		21125	0.0		0.0	False		,,,				2504	0.0					ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4729-4731)gcG>gcA		neurobeachin-like 2							91.0	95.0	94.0					3																	47043265		2122	4257	6379	SO:0001819	synonymous_variant	23218						binding	g.chr3:47043265G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4731G>A	3.37:g.47043265G>A						NBEAL2_ENST00000292309.5_Silent_p.A1393A|NBEAL2_ENST00000383740.2_5'UTR	p.A1577A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	30	4910	+		Acute lymphoblastic leukemia(5;0.0534)	1577					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4731G>A	CCDS46817.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.05	1.244193	0.22796	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42832	-0.9428	4	.	.	.	.	3.8024	0.08764	0.124:0.2892:0.3966:0.1903	.	.	.	.	H	865	.	.	R	+	2	0	NBEAL2	47018269	0.001000	0.12720	0.867000	0.34043	0.976000	0.68499	-1.374000	0.02566	-1.592000	0.01619	-0.414000	0.06135	CGC		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		11	77	0	0	0	1	0	11	77				
RPRD2	23248	broad.mit.edu	37	1	150390085	150390085	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr1:150390085C>A	ENST00000369068.4	+	2	223	c.219C>A	c.(217-219)caC>caA	p.H73Q	RPRD2_ENST00000539519.1_Missense_Mutation_p.H73Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.H73Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H73Q	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	73	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATATCCCCACCGTTTGAATC	0.353																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(217-219)caC>caA		regulation of nuclear pre-mRNA domain containing 2							231.0	217.0	221.0					1																	150390085		1863	4101	5964	SO:0001583	missense	23248						protein binding	g.chr1:150390085C>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.219C>A	1.37:g.150390085C>A	ENSP00000358064:p.His73Gln					RPRD2_ENST00000369068.4_Missense_Mutation_p.H73Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H73Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.H73Q	p.H73Q			Q5VT52	RPRD2_HUMAN			2	284	+			73			CID.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.219C>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177558	0.38413	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.52	2.03	0.26663	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.092518	0.85682	D	0.000000	T	0.25606	0.0623	N	0.17631	0.505	0.54753	D	0.999981	P;B;D	0.76494	0.501;0.361;0.999	B;B;D	0.80764	0.154;0.154;0.994	T	0.04467	-1.0949	10	0.15952	T	0.53	-1.3603	8.1931	0.31381	0.0:0.4782:0.0:0.5218	.	73;73;73	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Q	73	ENSP00000383785:H73Q;ENSP00000445482:H73Q;ENSP00000358063:H73Q;ENSP00000358064:H73Q	ENSP00000358063:H73Q	H	+	3	2	RPRD2	148656709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.854000	0.27791	0.189000	0.20188	0.650000	0.86243	CAC		0.353	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		44	152	1	0	4.10826e-27	1	4.45062e-27	44	152				
FAM46D	169966	broad.mit.edu	37	X	79698960	79698960	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chrX:79698960G>A	ENST00000308293.5	+	3	1161	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	FAM46D_ENST00000538312.1_Missense_Mutation_p.E308K	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	308										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGTTGTGAATGAAAGCACTGT	0.388																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(922-924)Gaa>Aaa		family with sequence similarity 46, member D							140.0	118.0	126.0					X																	79698960		2203	4298	6501	SO:0001583	missense	169966							g.chrX:79698960G>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.922G>A	X.37:g.79698960G>A	ENSP00000308575:p.Glu308Lys					FAM46D_ENST00000308293.5_Missense_Mutation_p.E308K	p.E308K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	1256	+			308					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.922G>A	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326531	0.24080	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.25749	1.78;1.78	4.35	3.48	0.39840	Domain of unknown function DUF1693 (1);	0.202421	0.42294	D	0.000740	T	0.34019	0.0883	M	0.85462	2.755	0.50171	D	0.999854	B	0.21606	0.058	B	0.23018	0.043	T	0.22452	-1.0216	10	0.54805	T	0.06	-3.9968	11.5429	0.50677	0.0:0.2082:0.7918:0.0	.	308	Q8NEK8	FA46D_HUMAN	K	308	ENSP00000443410:E308K;ENSP00000308575:E308K	ENSP00000308575:E308K	E	+	1	0	FAM46D	79585616	1.000000	0.71417	0.999000	0.59377	0.047000	0.14425	3.831000	0.55776	0.837000	0.34925	0.583000	0.79449	GAA		0.388	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		4	70	0	0	0	1	0	4	70				
SLC35G3	146861	broad.mit.edu	37	17	33520469	33520469	+	Silent	SNP	T	T	C			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:33520469T>C	ENST00000297307.5	-	1	943	c.858A>G	c.(856-858)ctA>ctG	p.L286L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	286	EamA 2.					integral component of membrane (GO:0016021)		p.L286L(1)									CCTCGGAATGTAGGACAGCGC	0.592																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.L286L(1)	lung(1)								c.(856-858)ctA>ctG		solute carrier family 35, member G3							207.0	184.0	192.0					17																	33520469		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520469T>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.858A>G	17.37:g.33520469T>C							p.L286L	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	943	-			286			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.858A>G	CCDS11293.1																																																																																				0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	159	0	0	0	1	0	5	159				
ZNF813	126017	broad.mit.edu	37	19	54007225	54007225	+	IGR	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr19:54007225C>T	ENST00000396421.4	+	0	300				CTD-2224J9.8_ENST00000601966.1_RNA			Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGGGCTCATGCTCTGGGGCAG	0.597																																						ENST00000601966.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54007225C>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309		19.37:g.54007225C>T														0	4	+									RNA	SNP	ENST00000396421.4	37																																																																																						0.597	ZNF813-201	KNOWN	basic	protein_coding	protein_coding		NM_001004301		3	2	0	0	0	1	0	3	2				
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.Q118L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg		bone morphogenetic protein 6																																				SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu						p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	BMP6	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		3	30	0	0	0	1	0	3	30				
RUNX1T1	862	broad.mit.edu	37	8	93003905	93003905	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr8:93003905G>A	ENST00000523629.1	-	7	1407	c.953C>T	c.(952-954)cCc>cTc	p.P318L	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P281L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P318L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P329L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	318					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCTGTGGCTGGGGTGTCGATA	0.542																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(952-954)cCc>cTc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							187.0	168.0	174.0					8																	93003905		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003905G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.953C>T	8.37:g.93003905G>A	ENSP00000428543:p.Pro318Leu					RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P318L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P329L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P281L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P291L	p.P318L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1407	-			318					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.953C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338425	0.41398	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.29655	1.57;1.56;1.57;1.56;1.56;1.56;1.57;1.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	L	0.46157	1.445	0.80722	D	1	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.12156	0.001;0.001;0.007	T	0.23797	-1.0178	10	0.05525	T	0.97	-19.9831	20.4745	0.99168	0.0:0.0:1.0:0.0	.	329;318;291	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	L	318;291;318;281;281;281;329;291	ENSP00000428543:P318L;ENSP00000379520:P291L;ENSP00000265814:P318L;ENSP00000353504:P281L;ENSP00000390137:P281L;ENSP00000428742:P281L;ENSP00000402257:P329L;ENSP00000430728:P291L	ENSP00000265814:P318L	P	-	2	0	RUNX1T1	93073081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.619000	0.83057	2.941000	0.99782	0.655000	0.94253	CCC		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		42	107	0	0	0	1	0	42	107				
CCT6B	10693	broad.mit.edu	37	17	33285700	33285700	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:33285700G>T	ENST00000314144.5	-	3	330	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	CCT6B_ENST00000421975.3_Missense_Mutation_p.P72Q|CCT6B_ENST00000436961.3_Intron|ZNF830_ENST00000361952.3_5'Flank	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	72					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GGAAGCTGTTGGATGTTGAAT	0.388																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(214-216)cCa>cAa		chaperonin containing TCP1, subunit 6B (zeta 2)							91.0	80.0	84.0					17																	33285700		2203	4300	6503	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33285700G>T	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.215C>A	17.37:g.33285700G>T	ENSP00000327191:p.Pro72Gln					CCT6B_ENST00000436961.3_Intron|CCT6B_ENST00000421975.3_Missense_Mutation_p.P72Q	p.P72Q	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			3	330	-		Ovarian(249;0.17)	72					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.215C>A	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222739	0.79464	.	.	ENSG00000132141	ENST00000421975;ENST00000314144	T;T	0.33865	1.39;1.39	4.72	4.72	0.59763	Chaperonin TCP-1, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.73297	-0.4027	10	0.87932	D	0	-9.059	15.5625	0.76258	0.0:0.0:1.0:0.0	.	72;72	B4DX20;Q92526	.;TCPW_HUMAN	Q	72	ENSP00000398044:P72Q;ENSP00000327191:P72Q	ENSP00000327191:P72Q	P	-	2	0	CCT6B	30309813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.965000	0.93393	2.591000	0.87537	0.650000	0.86243	CCA		0.388	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		3	59	1	0	0.014758	1	0.0153483	3	59				
ATP13A3	79572	broad.mit.edu	37	3	194154518	194154518	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr3:194154518C>T	ENST00000439040.1	-	21	3019	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R743H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	743						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATGACGGTGCGAATGTTGGC	0.348																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2227-2229)cGc>cAc		ATPase type 13A3							172.0	157.0	161.0					3																	194154518		1858	4098	5956	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194154518C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2228G>A	3.37:g.194154518C>T	ENSP00000416508:p.Arg743His					ATP13A3_ENST00000256031.4_Missense_Mutation_p.R743H	p.R743H			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	21	3019	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	743					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2228G>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388233	0.95988	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.71222	-0.55;-0.55	5.86	5.86	0.93980	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.84581	0.0661	10	0.66056	D	0.02	-1.7781	20.1802	0.98196	0.0:1.0:0.0:0.0	.	743	Q9H7F0	AT133_HUMAN	H	743;743;481	ENSP00000416508:R743H;ENSP00000256031:R743H	ENSP00000256031:R743H	R	-	2	0	ATP13A3	195635807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	CGC		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		5	119	0	0	0	1	0	5	119				
DCAF12L1	139170	broad.mit.edu	37	X	125685938	125685938	+	Silent	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	218										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCGCCACAGCGCCACAGTGC	0.652																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(652-654)gcG>gcA		DDB1 and CUL4 associated factor 12-like 1							32.0	34.0	33.0					X																	125685938		2201	4296	6497	SO:0001819	synonymous_variant	139170							g.chrX:125685938C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.654G>A	X.37:g.125685938C>T							p.A218A	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	896	-			218					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.654G>A	CCDS14610.1																																																																																				0.652	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		3	35	0	0	0	1	0	3	35				
ATP4A	495	broad.mit.edu	37	19	36054315	36054315	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr19:36054315G>T	ENST00000262623.3	-	2	155	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	43					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGTTCTCCAGCTTCTCCTTC	0.642																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(127-129)Ctg>Atg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						198.0	196.0	197.0					19																	36054315		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054315G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.127C>A	19.37:g.36054315G>T	ENSP00000262623:p.Leu43Met						p.L43M	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	155	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		43					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.127C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138509	0.37728	.	.	ENSG00000105675	ENST00000262623	D	0.93604	-3.25	4.48	3.44	0.39384	ATPase, P-type, gastric H+/K+-transporter, N-terminal (1);	0.572276	0.13680	N	0.370267	D	0.84374	0.5458	N	0.08118	0	0.33585	D	0.600397	B	0.17465	0.022	B	0.17979	0.02	T	0.81243	-0.1021	10	0.26408	T	0.33	.	10.5621	0.45152	0.095:0.0:0.905:0.0	.	43	P20648	ATP4A_HUMAN	M	43	ENSP00000262623:L43M	ENSP00000262623:L43M	L	-	1	2	ATP4A	40746155	0.992000	0.36948	1.000000	0.80357	0.985000	0.73830	0.626000	0.24492	1.128000	0.42052	-0.139000	0.14373	CTG		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	162	1	0	0.150653	1	0.150653	4	162				
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	RNA	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr3:75475607C>T	ENST00000459803.1	-	0	922					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCACCTAGCTCGGTGGTGAAC	0.652																																						ENST00000459803.1																			0																																																			692099							g.chr3:75475607C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475607C>T								NR_024241.1						0	922	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.652	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	88	0	0	0	1	0	4	88				
EPAS1	2034	broad.mit.edu	37	2	46607402	46607402	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr2:46607402C>T	ENST00000263734.3	+	12	2101	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACACTGGCACCCTATATCCC	0.587																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)Ccc>Tcc		endothelial PAS domain protein 1							85.0	93.0	91.0					2																	46607402		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607402C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1591C>T	2.37:g.46607402C>T	ENSP00000263734:p.Pro531Ser						p.P531S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2101	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1591C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989153	0.93106	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	S	531	ENSP00000263734:P531S	ENSP00000263734:P531S	P	+	1	0	EPAS1	46460906	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		108	83	0	0	0	1	0	108	83				
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(34-36)gcc>CGCgcc		cadherin, EGF LAG seven-pass G-type receptor 2				1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792735_109792736insCGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup						p.11_12insR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	95_96	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	11					Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	c.34_35insCGC	CCDS796.1																																																																																				0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	6						3	6	---	---	---	---
