#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
LRRC8A	56262	broad.mit.edu	37	9	131670897	131670897	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:131670897C>T	ENST00000259324.5	+	3	1977	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A485V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A485V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	485					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AAGATTGAAGCGCCCGCGCTG	0.612																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1453-1455)gCg>gTg		leucine rich repeat containing 8 family, member A							17.0	18.0	18.0					9																	131670897		2198	4294	6492	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670897C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1454C>T	9.37:g.131670897C>T	ENSP00000259324:p.Ala485Val					LRRC8A_ENST00000372600.4_Missense_Mutation_p.A485V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A485V	p.A485V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1977	+			485					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1454C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183707	0.06340	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.22539	1.95;1.95;1.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	N	0.00300	-1.685	0.58432	D	0.999996	P	0.46859	0.885	B	0.31869	0.137	T	0.49513	-0.8932	10	0.15952	T	0.53	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	485	Q8IWT6	LRC8A_HUMAN	V	485	ENSP00000361682:A485V;ENSP00000361680:A485V;ENSP00000259324:A485V	ENSP00000259324:A485V	A	+	2	0	LRRC8A	130710718	1.000000	0.71417	0.969000	0.41365	0.081000	0.17604	6.089000	0.71384	2.595000	0.87683	0.561000	0.74099	GCG		0.612	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		11	19	0	0	0	1	0	11	19				
ZSCAN2	54993	broad.mit.edu	37	15	85164512	85164512	+	Silent	SNP	C	C	T	rs368304150		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:85164512C>T	ENST00000448803.2	+	3	1378	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	ZSCAN2_ENST00000327179.6_Silent_p.Y361Y|ZSCAN2_ENST00000358472.3_Silent_p.Y212Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.Y362Y	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	362					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAAAGCCCTACGAATGTAAAG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18445	0.0		0.0	False		,,,				2504	0.001					ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1084-1086)taC>taT		zinc finger and SCAN domain containing 2		C		0,4406		0,0,2203	132.0	138.0	136.0		1086	-3.6	0.1	15		136	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZSCAN2	NM_181877.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		362/615	85164512	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164512C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1086C>T	15.37:g.85164512C>T						ZSCAN2_ENST00000546148.1_Silent_p.Y362Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.Y361Y|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Silent_p.Y212Y	p.Y362Y	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1378	+			362					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1086C>T	CCDS10329.2																																																																																				0.493	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		42	96	0	0	0	1	0	42	96				
BAHCC1	57597	broad.mit.edu	37	17	79409603	79409603	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr17:79409603G>A	ENST00000307745.7	+	9	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T																								CCCCTTCCAGGCCGCCGAGGC	0.701																																						ENST00000307745.7																			0											c.(1228-1230)Gcc>Acc									12.0	15.0	14.0					17																	79409603		1914	4051	5965	SO:0001583	missense	0							g.chr17:79409603G>A																												ENST00000307745.7:c.1228G>A	17.37:g.79409603G>A	ENSP00000303486:p.Ala410Thr						p.A410T							9	1228	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1228G>A		.	.	.	.	.	.	.	.	.	.	g	13.99	2.402936	0.42613	.	.	ENSG00000171282	ENST00000307745	T	0.12147	2.71	4.01	4.01	0.46588	.	.	.	.	.	T	0.11665	0.0284	N	0.24115	0.695	0.21740	N	0.999566	B	0.12630	0.006	B	0.08055	0.003	T	0.17048	-1.0382	9	0.52906	T	0.07	.	15.114	0.72384	0.0:0.0:1.0:0.0	.	410	Q9P281	BAHC1_HUMAN	T	410	ENSP00000303486:A410T	ENSP00000303486:A410T	A	+	1	0	AC110285.1	77024198	0.867000	0.29959	0.737000	0.30932	0.294000	0.27393	1.530000	0.36007	2.101000	0.63845	0.282000	0.19409	GCC		0.701	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	7	0	0	0	1	0	3	7				
ZNF560	147741	broad.mit.edu	37	19	9577519	9577519	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:9577519G>A	ENST00000301480.4	-	10	2317	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	702					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTTAAGCGATCATGAAAG	0.378																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2104-2106)Cgc>Tgc		zinc finger protein 560							131.0	130.0	130.0					19																	9577519		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577519G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2104C>T	19.37:g.9577519G>A	ENSP00000301480:p.Arg702Cys						p.R702C	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	2317	-			702					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.2104C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	8.502	0.864502	0.17250	.	.	ENSG00000198028	ENST00000301480	T	0.15256	2.44	1.5	0.421	0.16451	.	.	.	.	.	T	0.15565	0.0375	L	0.55213	1.73	0.20307	N	0.999919	B	0.06786	0.001	B	0.04013	0.001	T	0.26815	-1.0092	9	0.72032	D	0.01	.	6.0848	0.19960	0.1867:0.0:0.8133:0.0	.	702	Q96MR9	ZN560_HUMAN	C	702	ENSP00000301480:R702C	ENSP00000301480:R702C	R	-	1	0	ZNF560	9438519	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	0.453000	0.21811	0.190000	0.20209	-0.448000	0.05591	CGC		0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		33	103	0	0	0	1	0	33	103				
TTN	7273	broad.mit.edu	37	2	179431823	179431823	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:179431823G>T	ENST00000591111.1	-	276	74337	c.74113C>A	c.(74113-74115)Ctg>Atg	p.L24705M	TTN_ENST00000359218.5_Missense_Mutation_p.L17406M|TTN_ENST00000460472.2_Missense_Mutation_p.L17281M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L23778M|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L17473M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L26346M			Q8WZ42	TITIN_HUMAN	titin	24705	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACTTTCAGAGAATTGGTC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79036-79038)Ctg>Atg		titin							124.0	122.0	123.0					2																	179431823		1864	4101	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431823G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74113C>A	2.37:g.179431823G>T	ENSP00000465570:p.Leu24705Met					TTN_ENST00000342175.6_Missense_Mutation_p.L17473M|TTN_ENST00000342992.6_Missense_Mutation_p.L23778M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L24705M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L17406M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L17281M|TTN-AS1_ENST00000590932.1_RNA	p.L26346M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79260	-			24705			Ig-like 127.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.79036C>A		.	.	.	.	.	.	.	.	.	.	G	8.719	0.913988	0.17907	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.62	2.79	0.32731	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60470	0.2271	L	0.43152	1.355	0.25074	N	0.99098	D;D;D;P	0.54397	0.966;0.966;0.966;0.939	P;P;P;P	0.55161	0.77;0.77;0.77;0.694	T	0.50955	-0.8766	9	0.87932	D	0	.	9.6026	0.39615	0.1169:0.1222:0.7609:0.0	.	17281;17406;17473;24705	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	23778;17281;17473;17406;17279	ENSP00000343764:L23778M;ENSP00000434586:L17281M;ENSP00000340554:L17473M;ENSP00000352154:L17406M	ENSP00000340554:L17473M	L	-	1	2	TTN	179140069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.571000	0.36450	1.341000	0.45600	0.462000	0.41574	CTG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	93	1	0	8.73648e-17	1	9.31891e-17	38	93				
TIE1	7075	broad.mit.edu	37	1	43778122	43778122	+	Missense_Mutation	SNP	C	C	T	rs144699870		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43778122C>T	ENST00000372476.3	+	12	1856	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	TIE1_ENST00000433781.2_Missense_Mutation_p.R238W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	593	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGCAGGAGCGGCGGGAGAA	0.692																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1777-1779)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1		C	TRP/ARG	0,4406		0,0,2203	37.0	37.0	37.0		1777	4.5	1.0	1	dbSNP_134	37	1,8595	1.2+/-3.3	0,1,4297	no	missense	TIE1	NM_005424.2	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	593/1139	43778122	1,13001	2203	4298	6501	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778122C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1777C>T	1.37:g.43778122C>T	ENSP00000361554:p.Arg593Trp					TIE1_ENST00000433781.2_Missense_Mutation_p.R238W	p.R593W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			12	1856	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	593			Fibronectin type-III 2.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1777C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776235	0.70107	0.0	1.16E-4	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.58210	0.35;0.35	5.43	4.49	0.54785	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.222293	0.22765	N	0.055913	T	0.42177	0.1191	N	0.08118	0	0.33093	D	0.538245	P;D;D;D;D	0.69078	0.948;0.993;0.997;0.993;0.993	B;P;P;P;P	0.54815	0.436;0.571;0.761;0.571;0.571	T	0.56631	-0.7947	10	0.66056	D	0.02	.	7.57	0.27902	0.171:0.7387:0.0:0.0903	.	238;548;593;238;593	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	W	593;238	ENSP00000361554:R593W;ENSP00000411728:R238W	ENSP00000361554:R593W	R	+	1	2	TIE1	43550709	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.773000	0.38563	1.229000	0.43630	0.563000	0.77884	CGG		0.692	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		4	22	0	0	0	1	0	4	22				
EGFR	1956	broad.mit.edu	37	7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A	rs567477136|rs397517114		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55249022G>A	ENST00000275493.2	+	20	2497	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.V721M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAACCCCCACGTGTGCCGCCT	0.632		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		16	Insertion - In frame(11)|Substitution - Missense(5)	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)	lung(16)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2320-2322)Gtg>Atg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						105.0	95.0	98.0					7																	55249022		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249022G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2320G>A	7.37:g.55249022G>A	ENSP00000275493:p.Val774Met	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.V721M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M	p.V774M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2497	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		774			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2320G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545244	0.86022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.68025	-0.3;-0.3;-0.3	5.85	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	H	0.96662	3.86	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.968;0.997	D	0.91251	0.5029	10	0.87932	D	0	.	13.8489	0.63485	0.0742:0.0:0.9258:0.0	.	729;774	Q504U8;P00533	.;EGFR_HUMAN	M	729;644;774;721	ENSP00000415559:V729M;ENSP00000275493:V774M;ENSP00000395243:V721M	ENSP00000275493:V774M	V	+	1	0	EGFR	55216516	1.000000	0.71417	0.921000	0.36526	0.987000	0.75469	7.838000	0.86804	1.472000	0.48140	0.655000	0.94253	GTG		0.632	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		93	892	0	0	0	1	0	93	892				
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			8	Substitution - Missense(8)	p.V40G(8)	lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(118-120)gTg>gGg		DEAH (Asp-Glu-Ala-His) box helicase 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly						p.V40G	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	229	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		5	22	0	0	0	1	0	5	22				
EGFR	1956	broad.mit.edu	37	7	55221744	55221744	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55221744C>T	ENST00000275493.2	+	7	965	c.788C>T	c.(787-789)aCc>aTc	p.T263I	EGFR_ENST00000455089.1_Missense_Mutation_p.T218I|EGFR_ENST00000344576.2_Missense_Mutation_p.T263I|EGFR_ENST00000420316.2_Missense_Mutation_p.T263I|EGFR_ENST00000342916.3_Missense_Mutation_p.T263I|EGFR_ENST00000442591.1_Missense_Mutation_p.T263I|EGFR_ENST00000454757.2_Missense_Mutation_p.T210I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCAAGGACACCTGCCCCCCA	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(787-789)aCc>aTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						220.0	172.0	188.0					7																	55221744		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221744C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.788C>T	7.37:g.55221744C>T	ENSP00000275493:p.Thr263Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.T210I|EGFR_ENST00000344576.2_Missense_Mutation_p.T263I|EGFR_ENST00000442591.1_Missense_Mutation_p.T263I|EGFR_ENST00000420316.2_Missense_Mutation_p.T263I|EGFR_ENST00000342916.3_Missense_Mutation_p.T263I|EGFR_ENST00000455089.1_Missense_Mutation_p.T218I	p.T263I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	965	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		263					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.788C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080320	0.55753	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.8	4.89	0.63831	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.244508	0.45361	D	0.000372	D	0.88647	0.6493	M	0.79011	2.435	0.37264	D	0.907137	B;P;D;D;P	0.61080	0.307;0.682;0.989;0.975;0.816	B;B;P;P;B	0.54312	0.158;0.188;0.748;0.587;0.354	D	0.89999	0.4113	10	0.49607	T	0.09	.	10.7482	0.46194	0.1466:0.712:0.1414:0.0	.	218;263;263;263;263	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	I	218;263;133;263;263;263;263;210;57	ENSP00000415559:T218I;ENSP00000342376:T263I;ENSP00000345973:T263I;ENSP00000413843:T263I;ENSP00000275493:T263I;ENSP00000410031:T263I;ENSP00000395243:T210I	ENSP00000275493:T263I	T	+	2	0	EGFR	55189238	0.916000	0.31088	1.000000	0.80357	0.973000	0.67179	1.912000	0.39946	2.747000	0.94245	0.462000	0.41574	ACC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		245	370	0	0	0	1	0	245	370				
NPTX2	4885	broad.mit.edu	37	7	98254436	98254436	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:98254436C>T	ENST00000265634.3	+	3	1011	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	282	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTGCTGATCGAGTGGGGCA	0.642																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(844-846)atC>atT		neuronal pentraxin II							91.0	76.0	81.0					7																	98254436		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254436C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.846C>T	7.37:g.98254436C>T							p.I282I	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1011	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		282			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.846C>T	CCDS5657.1																																																																																				0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		10	63	0	0	0	1	0	10	63				
DSC2	1824	broad.mit.edu	37	18	28662324	28662324	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:28662324C>T	ENST00000280904.6	-	9	1586	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	DSC2_ENST00000251081.6_Silent_p.K381K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	381	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCACTAAGTCCTTATCCTCAA	0.318																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1141-1143)aaG>aaA		desmocollin 2							97.0	93.0	94.0					18																	28662324		2202	4299	6501	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662324C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1143G>A	18.37:g.28662324C>T						DSC2_ENST00000251081.6_Silent_p.K381K	p.K381K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1586	-			381			Cadherin 3.			Silent	SNP	ENST00000280904.6	37	c.1143G>A	CCDS11892.1																																																																																				0.318	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		26	73	0	0	0	1	0	26	73				
CDH9	1007	broad.mit.edu	37	5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1672-1674)cGc>cAc		cadherin 9, type 2 (T1-cadherin)							67.0	64.0	65.0					5																	26885932		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885932C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1673G>A	5.37:g.26885932C>T	ENSP00000231021:p.Arg558His						p.R558H	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1845	-			558			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1673G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219895	0.95139	.	.	ENSG00000113100	ENST00000231021	T	0.60040	0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.052610	0.85682	D	0.000000	D	0.83815	0.5336	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.973;0.991	D	0.88118	0.2830	9	.	.	.	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	151;558	B4DFP0;Q9ULB4	.;CADH9_HUMAN	H	558	ENSP00000231021:R558H	.	R	-	2	0	CDH9	26921689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.740000	0.93945	0.563000	0.77884	CGC		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		12	41	0	0	0	1	0	12	41				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	33	0	0	0	1	0	3	33				
TRPM5	29850	broad.mit.edu	37	11	2444189	2444189	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2444189G>A	ENST00000155858.6	-	1	86	c.78C>T	c.(76-78)ggC>ggT	p.G26G	TRPM5_ENST00000452833.1_Silent_p.G26G|TRPM5_ENST00000528453.1_Silent_p.G26G|TRPM5_ENST00000533060.1_Silent_p.G26G	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTTGACCTCGCCCCTGTGCA	0.657																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(76-78)ggC>ggT		transient receptor potential cation channel, subfamily M, member 5							72.0	68.0	70.0					11																	2444189		2202	4299	6501	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2444189G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.78C>T	11.37:g.2444189G>A						TRPM5_ENST00000533060.1_Silent_p.G26G|TRPM5_ENST00000528453.1_Silent_p.G26G|TRPM5_ENST00000155858.6_Silent_p.G26G	p.G26G			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	86	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	26						Silent	SNP	ENST00000155858.6	37	c.78C>T	CCDS31340.1																																																																																				0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		19	20	0	0	0	1	0	19	20				
TMEM215	401498	broad.mit.edu	37	9	32784298	32784298	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:32784298C>T	ENST00000342743.5	+	2	482	c.117C>T	c.(115-117)aaC>aaT	p.N39N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	39						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTTTGGGAAACATCCCCCTCC	0.592																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(115-117)aaC>aaT		transmembrane protein 215							90.0	83.0	85.0					9																	32784298		2203	4300	6503	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784298C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.117C>T	9.37:g.32784298C>T							p.N39N	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	482	+			39					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.117C>T	CCDS6530.1																																																																																				0.592	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		3	40	0	0	0	1	0	3	40				
AHNAK2	113146	broad.mit.edu	37	14	105419205	105419205	+	Silent	SNP	C	C	T	rs560264039		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:105419205C>T	ENST00000333244.5	-	7	2702	c.2583G>A	c.(2581-2583)ccG>ccA	p.P861P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	861						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACCTTCGGCGCAGACA	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		18197	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2581-2583)ccG>ccA		AHNAK nucleoprotein 2							172.0	192.0	185.0					14																	105419205		1960	4137	6097	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419205C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2583G>A	14.37:g.105419205C>T						AHNAK2_ENST00000557457.1_Intron	p.P861P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2702	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	861					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2583G>A	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		82	221	0	0	0	1	0	82	221				
GABRP	2568	broad.mit.edu	37	5	170235639	170235639	+	Missense_Mutation	SNP	C	C	T	rs202158019		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:170235639C>T	ENST00000518525.1	+	9	1179	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	GABRP_ENST00000519598.1_Missense_Mutation_p.R239W|GABRP_ENST00000265294.4_Missense_Mutation_p.R239W|GABRP_ENST00000519385.1_Missense_Mutation_p.R239W			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	239					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R239W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTTGAGCTTCGGAGGAATGT	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20351	0.0		0.0	False		,,,				2504	0.0					ENST00000518525.1																			1	Substitution - Missense(1)	p.R239W(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(715-717)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, pi		C	TRP/ARG	0,4406		0,0,2203	213.0	188.0	197.0		715	4.0	1.0	5		197	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRP	NM_014211.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	239/441	170235639	1,13005	2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235639C>T	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.715C>T	5.37:g.170235639C>T	ENSP00000430100:p.Arg239Trp					GABRP_ENST00000519385.1_Missense_Mutation_p.R239W|GABRP_ENST00000265294.4_Missense_Mutation_p.R239W|GABRP_ENST00000519598.1_Missense_Mutation_p.R239W	p.R239W			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1179	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	239					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.715C>T	CCDS4375.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.68	3.191002	0.58017	0.0	1.16E-4	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	4.94	4.01	0.46588	Neurotransmitter-gated ion-channel ligand-binding (3);	0.162693	0.56097	D	0.000039	D	0.87410	0.6170	M	0.82823	2.61	0.44214	D	0.997041	D;D	0.65815	0.995;0.987	P;P	0.56612	0.727;0.802	D	0.89621	0.3848	10	0.87932	D	0	.	14.1467	0.65355	0.2067:0.7933:0.0:0.0	.	239;239	E7EWG0;O00591	.;GBRP_HUMAN	W	239;137;239;239;239	ENSP00000430100:R239W;ENSP00000265294:R239W;ENSP00000430727:R239W;ENSP00000430772:R239W	ENSP00000265294:R239W	R	+	1	2	GABRP	170168217	0.961000	0.32948	0.999000	0.59377	0.920000	0.55202	1.030000	0.30153	2.431000	0.82371	0.655000	0.94253	CGG		0.423	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		17	31	0	0	0	1	0	17	31				
CD22	933	broad.mit.edu	37	19	35837090	35837090	+	Silent	SNP	G	G	A	rs530650512		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:35837090G>A	ENST00000085219.5	+	13	2430	c.2364G>A	c.(2362-2364)ccG>ccA	p.P788P	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P|CD22_ENST00000544992.2_Missense_Mutation_p.G749R|CD22_ENST00000270311.6_Silent_p.P603P|CD22_ENST00000419549.2_Silent_p.P616P|CD22_ENST00000341773.6_Silent_p.P611P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	788				PD -> RT (in Ref. 1; CAA42006). {ECO:0000305}.	cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACCTCCCCCGGACTGCGATG	0.587																																					Ovarian(42;1009 1133 23674 26041)	ENST00000544992.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2245-2247)Gga>Aga		CD22 molecule	OspA lipoprotein(DB00045)						109.0	94.0	99.0					19																	35837090		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35837090G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2364G>A	19.37:g.35837090G>A						CD22_ENST00000419549.2_Silent_p.P616P|CD22_ENST00000341773.6_Silent_p.P611P|CD22_ENST00000085219.5_Silent_p.P788P|CD22_ENST00000270311.6_Silent_p.P603P|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P	p.G749R			P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		12	2286	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		0					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2245G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628317	0.28978	.	.	ENSG00000012124	ENST00000544992	T	0.41065	1.01	3.67	2.65	0.31530	.	.	.	.	.	T	0.30634	0.0771	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	8	0.66056	D	0.02	.	5.3617	0.16091	0.7559:0.0:0.2441:0.0	.	749	F5GYU4	.	R	749	ENSP00000441237:G749R	ENSP00000441237:G749R	G	+	1	0	CD22	40528930	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.026000	0.13599	0.156000	0.19299	-0.817000	0.03123	GGA		0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	19	0	0	0	1	0	7	19				
PHF1	5252	broad.mit.edu	37	6	33382304	33382304	+	Silent	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:33382304T>G	ENST00000374516.3	+	10	1198	c.927T>G	c.(925-927)ctT>ctG	p.L309L	PHF1_ENST00000374512.3_Silent_p.L309L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	309					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTCTGCTCTTAACAGCCACA	0.547											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(925-927)ctT>ctG		PHD finger protein 1							89.0	89.0	89.0					6																	33382304		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382304T>G	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.927T>G	6.37:g.33382304T>G			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.L309L	p.L309L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			10	1198	+		Ovarian(999;0.0443)	309					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.927T>G	CCDS4777.1																																																																																				0.547	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			24	73	0	0	0	1	0	24	73				
ZNF83	55769	broad.mit.edu	37	19	53122295	53122295	+	5'UTR	SNP	A	A	G	rs11669959	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:53122295A>G	ENST00000544146.1	-	0	188				ZNF83_ENST00000594682.2_Silent_p.D12D|ZNF83_ENST00000600714.1_Silent_p.D12D|ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000541777.2_5'Flank|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000596930.1_Silent_p.D12D	NM_001105549.1	NP_001099019.1	P51522	ZNF83_HUMAN	zinc finger protein 83						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433																																						ENST00000600714.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(34-36)gaT>gaC		zinc finger protein 83																																				SO:0001623	5_prime_UTR_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53122295A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000544146.1:c.-554T>C	19.37:g.53122295A>G						ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron	p.D12D			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	4	318	-			111					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000544146.1	37	c.36T>C	CCDS12854.1																																																																																				0.433	ZNF83-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018300		5	173	0	0	0	1	0	5	173				
OR4Q3	441669	broad.mit.edu	37	14	20216301	20216301	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:20216301T>C	ENST00000331723.1	+	1	715	c.715T>C	c.(715-717)Tct>Cct	p.S239P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGTCTTCTCTACCTGTGC	0.468																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(715-717)Tct>Cct		olfactory receptor, family 4, subfamily Q, member 3							164.0	151.0	155.0					14																	20216301		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216301T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.715T>C	14.37:g.20216301T>C	ENSP00000330049:p.Ser239Pro						p.S239P	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	715	+	all_cancers(95;0.00108)		239					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.715T>C	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	11.74	1.728967	0.30684	.	.	ENSG00000182652	ENST00000331723	T	0.00309	8.16	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001229	T	0.01156	0.0038	H	0.98005	4.125	0.30357	N	0.784198	D	0.89917	1.0	D	0.85130	0.997	T	0.01390	-1.1367	10	0.87932	D	0	.	11.0806	0.48057	0.0:0.0:0.0:1.0	.	239	Q8NH05	OR4Q3_HUMAN	P	239	ENSP00000330049:S239P	ENSP00000330049:S239P	S	+	1	0	OR4Q3	19286141	0.016000	0.18221	0.999000	0.59377	0.111000	0.19643	1.416000	0.34759	1.710000	0.51325	0.416000	0.27883	TCT		0.468	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			24	51	0	0	0	1	0	24	51				
CYP4Z2P	163720	broad.mit.edu	37	1	47351210	47351210	+	RNA	SNP	C	C	T	rs573180339	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:47351210C>T	ENST00000505841.1	-	0	412					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CACAATCTGGCGGTGCTTTTT	0.448													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20930	0.001		0.0	False		,,,				2504	0.0					ENST00000505841.1																			0																																																			0							g.chr1:47351210C>T	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47351210C>T								NR_002788.2						0	412	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.448	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		11	9	0	0	0	1	0	11	9				
L1TD1	54596	broad.mit.edu	37	1	62676044	62676044	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:62676044A>T	ENST00000498273.1	+	4	1893	c.1598A>T	c.(1597-1599)cAg>cTg	p.Q533L	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	533										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CACAAAACCCAGGAGGAAGAG	0.463																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1597-1599)cAg>cTg		LINE-1 type transposase domain containing 1							58.0	58.0	58.0					1																	62676044		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62676044A>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1598A>T	1.37:g.62676044A>T	ENSP00000419901:p.Gln533Leu						p.Q533L	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			4	1893	+			533					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1598A>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	8.905	0.957201	0.18507	.	.	ENSG00000240563	ENST00000498273	T	0.14266	2.52	1.68	0.499	0.16914	.	.	.	.	.	T	0.17959	0.0431	L	0.36672	1.1	0.09310	N	1	D	0.53619	0.961	P	0.59288	0.855	T	0.13442	-1.0509	9	0.62326	D	0.03	.	3.4792	0.07595	0.7747:0.0:0.2253:0.0	.	533	Q5T7N2	LITD1_HUMAN	L	533	ENSP00000419901:Q533L	ENSP00000419901:Q533L	Q	+	2	0	L1TD1	62448632	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.124000	0.10595	0.133000	0.18654	0.443000	0.29094	CAG		0.463	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		10	43	0	0	0	1	0	10	43				
KCNA10	3744	broad.mit.edu	37	1	111060770	111060770	+	Missense_Mutation	SNP	C	C	T	rs576123443		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:111060770C>T	ENST00000369771.2	-	1	1027	c.640G>A	c.(640-642)Gct>Act	p.A214T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GCACGGGCAGCGCTGGAACTT	0.557																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(640-642)Gct>Act		potassium voltage-gated channel, shaker-related subfamily, member 10							102.0	103.0	103.0					1																	111060770		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060770C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.640G>A	1.37:g.111060770C>T	ENSP00000358786:p.Ala214Thr						p.A214T	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1027	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	214						Missense_Mutation	SNP	ENST00000369771.2	37	c.640G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831562	0.32329	.	.	ENSG00000143105	ENST00000369771	T	0.62941	-0.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.73217	2.22	0.51767	D	0.999936	D	0.89917	1.0	D	0.83275	0.996	T	0.76315	-0.3004	10	0.62326	D	0.03	.	18.895	0.92420	0.0:1.0:0.0:0.0	.	214	Q16322	KCA10_HUMAN	T	214	ENSP00000358786:A214T	ENSP00000358786:A214T	A	-	1	0	KCNA10	110862293	0.999000	0.42202	0.127000	0.21898	0.088000	0.18126	4.009000	0.57110	2.797000	0.96272	0.655000	0.94253	GCT		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		18	30	0	0	0	1	0	18	30				
THOP1	7064	broad.mit.edu	37	19	2799775	2799775	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:2799775C>T	ENST00000307741.6	+	5	778	c.575C>T	c.(574-576)aCg>aTg	p.T192M	THOP1_ENST00000586677.1_Missense_Mutation_p.T71M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	192					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCCTTCACGCTCCAGGAG	0.612																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(574-576)aCg>aTg		thimet oligopeptidase 1							126.0	91.0	103.0					19																	2799775		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2799775C>T		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.575C>T	19.37:g.2799775C>T	ENSP00000304467:p.Thr192Met					THOP1_ENST00000586677.1_Missense_Mutation_p.T71M	p.T192M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	778	+			192					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.575C>T	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684842	0.47991	.	.	ENSG00000172009	ENST00000307741	T	0.08984	3.03	4.32	3.28	0.37604	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.372037	0.29342	N	0.012440	T	0.12178	0.0296	M	0.69248	2.105	0.80722	D	1	D;D	0.67145	0.996;0.992	B;B	0.44108	0.441;0.363	T	0.04005	-1.0985	10	0.52906	T	0.07	-24.5849	11.1655	0.48541	0.0:0.9072:0.0:0.0928	.	71;192	B4DU96;P52888	.;THOP1_HUMAN	M	192	ENSP00000304467:T192M	ENSP00000304467:T192M	T	+	2	0	THOP1	2750775	0.997000	0.39634	0.073000	0.20177	0.093000	0.18481	3.584000	0.53936	0.819000	0.34492	-0.234000	0.12200	ACG		0.612	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			14	58	0	0	0	1	0	14	58				
ECE2	9718	broad.mit.edu	37	3	184003274	184003274	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:184003274A>G	ENST00000402825.3	+	10	1511	c.1511A>G	c.(1510-1512)aAc>aGc	p.N504S	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.N357S|ECE2_ENST00000404464.3_Missense_Mutation_p.N386S|ECE2_ENST00000357474.5_Missense_Mutation_p.N432S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	504	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCATCCTGAACAATTACCTG	0.522											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(1510-1512)aAc>aGc		endothelin converting enzyme 2							94.0	92.0	93.0					3																	184003274		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184003274A>G	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1511A>G	3.37:g.184003274A>G	ENSP00000384223:p.Asn504Ser		OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ECE2_ENST00000404464.3_Missense_Mutation_p.N386S|ECE2_ENST00000359140.4_Missense_Mutation_p.N357S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.N432S	p.N504S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1511	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		504			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1511A>G	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989097	0.74589	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	4.23	4.23	0.50019	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	L	0.59436	1.845	0.80722	D	1	D;D;D;B;D;D;D	0.89917	1.0;1.0;1.0;0.08;1.0;1.0;1.0	D;D;D;B;D;D;D	0.77004	0.989;0.977;0.984;0.04;0.973;0.973;0.989	T	0.79057	-0.1959	10	0.41790	T	0.15	-22.0289	12.2849	0.54788	1.0:0.0:0.0:0.0	.	106;357;375;386;432;357;504	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	S	504;357;386;432;378	ENSP00000384223:N504S;ENSP00000352052:N357S;ENSP00000385846:N386S;ENSP00000350066:N432S;ENSP00000398444:N378S	ENSP00000350066:N432S	N	+	2	0	ECE2	185485968	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.348000	0.79366	1.790000	0.52503	0.383000	0.25322	AAC		0.522	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		23	51	0	0	0	1	0	23	51				
GPR98	84059	broad.mit.edu	37	5	89949239	89949239	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:89949239T>C	ENST00000405460.2	+	20	3944	c.3848T>C	c.(3847-3849)cTg>cCg	p.L1283P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1283					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGTACAACTGGGCTGGGAA	0.448																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3847-3849)cTg>cCg		G protein-coupled receptor 98							108.0	100.0	102.0					5																	89949239		1950	4152	6102	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89949239T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3848T>C	5.37:g.89949239T>C	ENSP00000384582:p.Leu1283Pro						p.L1283P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	3944	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1283					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3848T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302807	0.60195	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29917	1.55	5.86	5.86	0.93980	.	0.162693	0.53938	D	0.000055	T	0.35566	0.0936	L	0.43152	1.355	0.80722	D	1	D	0.55385	0.971	P	0.46850	0.529	T	0.12372	-1.0550	10	0.72032	D	0.01	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1283	Q8WXG9	GPR98_HUMAN	P	1283	ENSP00000384582:L1283P	ENSP00000296619:L1283P	L	+	2	0	GPR98	89984995	1.000000	0.71417	0.979000	0.43373	0.412000	0.31113	7.659000	0.83766	2.367000	0.80283	0.528000	0.53228	CTG		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		12	35	0	0	0	1	0	12	35				
POGZ	23126	broad.mit.edu	37	1	151377720	151377720	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:151377720A>G	ENST00000271715.2	-	19	4105	c.3791T>C	c.(3790-3792)tTa>tCa	p.L1264S	POGZ_ENST00000368863.2_Missense_Mutation_p.L1169S|POGZ_ENST00000409503.1_Missense_Mutation_p.L1255S|POGZ_ENST00000361398.3_Missense_Mutation_p.L1211S|POGZ_ENST00000491586.1_Missense_Mutation_p.L1220S|POGZ_ENST00000540984.1_Missense_Mutation_p.L626S|POGZ_ENST00000531094.1_Missense_Mutation_p.L1202S|POGZ_ENST00000392723.1_Missense_Mutation_p.L1211S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1264	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCATACATCTAATGGCTGAAT	0.468																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3790-3792)tTa>tCa		pogo transposable element with ZNF domain							150.0	150.0	150.0					1																	151377720		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377720A>G	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3791T>C	1.37:g.151377720A>G	ENSP00000271715:p.Leu1264Ser					POGZ_ENST00000392723.1_Missense_Mutation_p.L1211S|POGZ_ENST00000368863.2_Missense_Mutation_p.L1169S|POGZ_ENST00000361398.3_Missense_Mutation_p.L1211S|POGZ_ENST00000540984.1_Missense_Mutation_p.L626S|POGZ_ENST00000531094.1_Missense_Mutation_p.L1202S|POGZ_ENST00000409503.1_Missense_Mutation_p.L1255S|POGZ_ENST00000491586.1_Missense_Mutation_p.L1220S	p.L1264S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4105	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1264			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3791T>C	CCDS997.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400753	0.62177	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.98	5.98	0.97165	.	0.000000	0.46145	D	0.000303	T	0.59418	0.2192	M	0.62723	1.935	0.47547	D	0.999454	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.997;1.0	D;D;D;D;D;D	0.80764	0.99;0.99;0.994;0.994;0.991;0.99	T	0.64390	-0.6419	10	0.87932	D	0	-9.597	15.2936	0.73885	1.0:0.0:0.0:0.0	.	1202;1255;1169;1220;1211;1264	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	S	1211;1264;1211;1169;1255;1202;626;1220	ENSP00000376484:L1211S;ENSP00000271715:L1264S;ENSP00000354467:L1211S;ENSP00000357856:L1169S;ENSP00000386836:L1255S;ENSP00000431259:L1202S;ENSP00000443547:L626S;ENSP00000418408:L1220S	ENSP00000271715:L1264S	L	-	2	0	POGZ	149644344	0.998000	0.40836	0.709000	0.30452	0.956000	0.61745	8.438000	0.90305	2.289000	0.77006	0.482000	0.46254	TTA		0.468	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		53	122	0	0	0	1	0	53	122				
MICAL2	9645	broad.mit.edu	37	11	12281413	12281413	+	Silent	SNP	C	C	T	rs144667365		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:12281413C>T	ENST00000256194.4	+	26	3591	c.3303C>T	c.(3301-3303)gcC>gcT	p.A1101A	MICAL2_ENST00000537344.1_Silent_p.A911A|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000379612.3_Silent_p.A875A|MICAL2_ENST00000527546.1_Silent_p.A911A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3301-3303)gcC>gcT		microtubule associated monooxygenase, calponin and LIM domain containing 2		C		1,4401	2.1+/-5.4	0,1,2200	45.0	45.0	45.0		3303	-9.0	0.1	11	dbSNP_134	45	0,8588		0,0,4294	no	coding-synonymous	MICAL2	NM_014632.2		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		1101/1125	12281413	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12281413C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3303C>T	11.37:g.12281413C>T						MICAL2_ENST00000527546.1_Silent_p.A911A|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000379612.3_Silent_p.A875A	p.A1101A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	26	3591	+			1101					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.3303C>T	CCDS7809.1																																																																																				0.592	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		3	13	0	0	0	1	0	3	13				
ABCC10	89845	broad.mit.edu	37	6	43415637	43415637	+	Silent	SNP	C	C	T	rs144509707		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:43415637C>T	ENST00000372530.4	+	18	4136	c.3921C>T	c.(3919-3921)gaC>gaT	p.D1307D	ABCC10_ENST00000244533.3_Silent_p.D1279D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1307	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGCTGCTGGACGGCGTGGACA	0.632																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3835-3837)gaC>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		C	,	2,4404	4.2+/-10.8	0,2,2201	44.0	42.0	43.0		3921,3837	-6.3	0.2	6	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ABCC10	NM_001198934.1,NM_033450.2	,	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	,	1307/1493,1279/1465	43415637	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415637C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3921C>T	6.37:g.43415637C>T						ABCC10_ENST00000372530.4_Silent_p.D1307D	p.D1279D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4196	+	all_lung(25;0.00536)		1307			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3837C>T	CCDS56430.1																																																																																				0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		7	34	0	0	0	1	0	7	34				
ZNF609	23060	broad.mit.edu	37	15	64970400	64970400	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:64970400G>A	ENST00000326648.3	+	5	3616	c.3488G>A	c.(3487-3489)cGg>cAg	p.R1163Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1163						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGGAGGAGCGGGACCGCAAA	0.527																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3487-3489)cGg>cAg		zinc finger protein 609							73.0	59.0	64.0					15																	64970400		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64970400G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3488G>A	15.37:g.64970400G>A	ENSP00000316527:p.Arg1163Gln						p.R1163Q	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			5	3616	+			1163					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.3488G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388995	0.95988	.	.	ENSG00000180357	ENST00000326648	T	0.52754	0.65	5.44	5.44	0.79542	.	0.055458	0.64402	D	0.000001	T	0.65112	0.2660	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.61073	-0.7136	10	0.33141	T	0.24	-11.1133	19.2633	0.93977	0.0:0.0:1.0:0.0	.	1163	O15014	ZN609_HUMAN	Q	1163	ENSP00000316527:R1163Q	ENSP00000316527:R1163Q	R	+	2	0	ZNF609	62757453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.529000	0.73812	2.537000	0.85549	0.650000	0.86243	CGG		0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		12	30	0	0	0	1	0	12	30				
COL7A1	1294	broad.mit.edu	37	3	48629445	48629445	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:48629445C>T	ENST00000328333.8	-	10	1350	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A415T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	415	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAACAGAAGCGTCTGCCCAG	0.647																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1243-1245)Gct>Act		collagen, type VII, alpha 1							93.0	106.0	102.0					3																	48629445		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629445C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1243G>A	3.37:g.48629445C>T	ENSP00000332371:p.Ala415Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.A415T	p.A415T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1350	-			415			Fibronectin type-III 3.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1243G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	6.881	0.531943	0.13127	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.86030	-2.05;-2.06	4.29	-8.58	0.00897	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.174260	0.06595	N	0.752700	T	0.64692	0.2621	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51733	-0.8668	10	0.17369	T	0.5	.	1.0676	0.01614	0.2466:0.3508:0.2139:0.1887	.	415	Q02388	CO7A1_HUMAN	T	415	ENSP00000332371:A415T;ENSP00000412569:A415T	ENSP00000332371:A415T	A	-	1	0	COL7A1	48604449	0.000000	0.05858	0.054000	0.19295	0.565000	0.35776	-1.556000	0.02168	-0.840000	0.04206	-1.652000	0.00757	GCT		0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		26	71	0	0	0	1	0	26	71				
ATP1B4	23439	broad.mit.edu	37	X	119500506	119500506	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:119500506G>A	ENST00000218008.3	+	2	247	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	64	Glu-rich.				monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(190-192)Gaa>Aaa		ATPase, Na+/K+ transporting, beta 4 polypeptide							94.0	82.0	86.0					X																	119500506		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119500506G>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.190G>A	X.37:g.119500506G>A	ENSP00000218008:p.Glu64Lys					ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			2	247	+			64			Glu-rich.		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.190G>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	6.874	0.530687	0.13127	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.07567	3.18;3.18;3.18	4.36	2.6	0.31112	.	0.600073	0.20168	N	0.097796	T	0.06872	0.0175	L	0.44542	1.39	0.41768	D	0.989753	B;B;B;B	0.11235	0.001;0.001;0.003;0.004	B;B;B;B	0.14023	0.002;0.002;0.01;0.006	T	0.25222	-1.0138	10	0.36615	T	0.2	-9.2124	4.1876	0.10405	0.2109:0.1866:0.6025:0.0	.	64;64;64;64	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	K	64	ENSP00000218008:E64K;ENSP00000355346:E64K;ENSP00000443334:E64K	ENSP00000218008:E64K	E	+	1	0	ATP1B4	119384534	1.000000	0.71417	0.883000	0.34634	0.014000	0.08584	5.556000	0.67307	0.576000	0.29452	-1.071000	0.02255	GAA		0.527	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		15	28	0	0	0	1	0	15	28				
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	rs368813886		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:105001535G>A	ENST00000436393.2	+	15	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R769Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17562	0.0		0.0	False		,,,				2504	0.0					ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2305-2307)cGg>cAg		regulating synaptic membrane exocytosis 2		G	GLN/ARG,GLN/ARG	2,3706		0,2,1852	130.0	126.0	127.0		2930,2306	5.5	1.0	8		127	0,8196		0,0,4098	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	43,43	0,2,5950	AA,AG,GG		0.0,0.0539,0.0168	probably-damaging,probably-damaging	977/1350,769/1164	105001535	2,11902	1854	4098	5952	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001535G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2264G>A	8.37:g.105001535G>A	ENSP00000390665:p.Arg755Gln	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q	p.R769Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2542	+			1039					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2306G>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708325	0.68615	5.39E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18502	2.21;2.77;2.41;2.38;2.3;2.65	5.54	5.54	0.83059	.	.	.	.	.	T	0.29389	0.0732	L	0.40543	1.245	0.80722	D	1	B;D;P;D;D	0.69078	0.107;0.997;0.584;0.991;0.996	B;P;B;P;P	0.59221	0.029;0.592;0.05;0.449;0.854	T	0.00872	-1.1532	9	0.20519	T	0.43	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1039;755;816;769;977	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	977;992;977;1039;816;769;769;755	ENSP00000427018:R977Q;ENSP00000384892:R977Q;ENSP00000262231:R816Q;ENSP00000423559:R769Q;ENSP00000386228:R769Q;ENSP00000390665:R755Q	ENSP00000262231:R816Q	R	+	2	0	RIMS2	105070711	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.252000	0.72447	2.617000	0.88574	0.484000	0.47621	CGG		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		15	42	0	0	0	1	0	15	42				
CST4	1472	broad.mit.edu	37	20	23669406	23669406	+	Silent	SNP	C	C	T	rs191660510	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:23669406C>T	ENST00000217423.3	-	1	271	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	67					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACCTGCAGCGGGCGTCTGT	0.597													.|||	3	0.000599042	0.0015	0.0014	5008	,	,		17260	0.0		0.0	False		,,,				2504	0.0					ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(199-201)ccG>ccA		cystatin S		C		1,4405	2.1+/-5.4	0,1,2202	93.0	85.0	87.0		201	-3.4	0.0	20		87	0,8600		0,0,4300	no	coding-synonymous	CST4	NM_001899.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		67/142	23669406	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23669406C>T		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.201G>A	20.37:g.23669406C>T							p.P67P	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			1	271	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		67					Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	c.201G>A	CCDS13159.1																																																																																				0.597	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		8	37	0	0	0	1	0	8	37				
CSMD1	64478	broad.mit.edu	37	8	2886955	2886955	+	Missense_Mutation	SNP	C	C	T	rs200463703		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:2886955C>T	ENST00000520002.1	-	52	8299	c.7744G>A	c.(7744-7746)Ggt>Agt	p.G2582S	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2582S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2582S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2582S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2582	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTGAGCACCGTACTCATTC	0.537																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7744-7746)Ggt>Agt		CUB and Sushi multiple domains 1		C	SER/GLY	0,3978		0,0,1989	65.0	63.0	63.0		7741	4.9	0.1	8		63	2,8328		0,2,4163	yes	missense	CSMD1	NM_033225.5	56	0,2,6152	TT,TC,CC		0.024,0.0,0.0162	benign	2581/3565	2886955	2,12306	1989	4165	6154	SO:0001583	missense	64478					integral to membrane		g.chr8:2886955C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7744G>A	8.37:g.2886955C>T	ENSP00000430733:p.Gly2582Ser					CSMD1_ENST00000602723.1_Missense_Mutation_p.G2582S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2582S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2582S	p.G2582S			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8299	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2582			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7744G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.586134|2.586134	0.46110|0.46110	0.0|0.0	2.4E-4|2.4E-4	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.72394|.	-0.65;-0.65;-0.65;-0.65|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Complement control module (2);Sushi/SCR/CCP (3);|.	0.167769|.	0.39909|.	N|.	0.001221|.	T|T	0.76219|0.76219	0.3957|0.3957	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;P;D|.	0.63880|.	0.98;0.897;0.993|.	P;B;P|.	0.61201|.	0.535;0.418;0.885|.	T|T	0.76399|0.76399	-0.2973|-0.2973	10|5	0.44086|.	T|.	0.13|.	.|.	18.2377|18.2377	0.89956|0.89956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2582;2582;2581|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	S|Q	2582;2582;2443;2581;2581|1998	ENSP00000383047:G2582S;ENSP00000430733:G2582S;ENSP00000441462:G2581S;ENSP00000446243:G2581S|.	ENSP00000320445:G2443S|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2874362|2874362	0.999000|0.999000	0.42202|0.42202	0.130000|0.130000	0.21974|0.21974	0.168000|0.168000	0.22595|0.22595	6.559000|6.559000	0.73946|0.73946	2.552000|2.552000	0.86080|0.86080	0.591000|0.591000	0.81541|0.81541	GGT|CGG		0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	16	0	0	0	1	0	4	16				
ASB9	140462	broad.mit.edu	37	X	15287957	15287957	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:15287957C>T	ENST00000380488.4	-	1	313	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ASB9_ENST00000380485.3_Missense_Mutation_p.A14T|ASB9_ENST00000546332.1_Missense_Mutation_p.A14T|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.A14T	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	14					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTGGCCCCGCGGGCTTGCTC	0.562													C|||	1	0.000264901	0.0	0.0	3775	,	,		13825	0.001		0.0	False		,,,				2504	0.0					ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(40-42)Gcg>Acg		ankyrin repeat and SOCS box containing 9							104.0	83.0	90.0					X																	15287957		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15287957C>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.40G>A	X.37:g.15287957C>T	ENSP00000369855:p.Ala14Thr					ASB9_ENST00000380483.3_Missense_Mutation_p.A14T|ASB9_ENST00000380485.3_Missense_Mutation_p.A14T|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.A14T	p.A14T	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			2	523	-	Hepatocellular(33;0.183)		14					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.40G>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	6.500	0.460457	0.12342	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.66280	1.0;-0.2;-0.15;-0.2	5.29	1.58	0.23477	.	9.439780	0.00166	N	0.000000	T	0.37128	0.0992	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.10296	0.0;0.002;0.001;0.003	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.32534	-0.9903	10	0.59425	D	0.04	3.8077	4.5544	0.12130	0.2875:0.1663:0.5462:0.0	.	14;14;14;14	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	T	14	ENSP00000369850:A14T;ENSP00000369852:A14T;ENSP00000369855:A14T;ENSP00000438943:A14T	ENSP00000369850:A14T	A	-	1	0	ASB9	15197878	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.433000	0.21477	-0.102000	0.12197	-0.384000	0.06662	GCG		0.562	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			4	25	0	0	0	1	0	4	25				
CELSR1	9620	broad.mit.edu	37	22	46859990	46859990	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:46859990A>G	ENST00000262738.3	-	2	3796	c.3797T>C	c.(3796-3798)cTg>cCg	p.L1266P	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1266P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1266					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCGCCAGGCAGCAGCGCCGA	0.632																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3796-3798)cTg>cCg		cadherin, EGF LAG seven-pass G-type receptor 1							73.0	74.0	74.0					22																	46859990		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859990A>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3797T>C	22.37:g.46859990A>G	ENSP00000262738:p.Leu1266Pro					CELSR1_ENST00000395964.1_Missense_Mutation_p.L1266P	p.L1266P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3796	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1266					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3797T>C	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.822|9.822	1.185999|1.185999	0.21870|0.21870	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.68624	.|-0.34;-0.04	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.107349	.|0.37669	.|U	.|0.001989	T|T	0.67988|0.67988	0.2952|0.2952	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.65815	.|0.995	.|P	.|0.56788	.|0.806	T|T	0.67309|0.67309	-0.5703|-0.5703	5|10	.|0.35671	.|T	.|0.21	.|.	14.123|14.123	0.65201|0.65201	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1266	.|Q9NYQ6	.|CELR1_HUMAN	R|P	641|1266	.|ENSP00000262738:L1266P;ENSP00000379293:L1266P	.|ENSP00000262738:L1266P	C|L	-|-	1|2	0|0	CELSR1|CELSR1	45238654|45238654	1.000000|1.000000	0.71417|0.71417	0.910000|0.910000	0.35882|0.35882	0.671000|0.671000	0.39405|0.39405	5.241000|5.241000	0.65384|0.65384	1.817000|1.817000	0.53016|0.53016	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		16	48	0	0	0	1	0	16	48				
MS4A4A	51338	broad.mit.edu	37	11	60064762	60064762	+	Silent	SNP	C	C	T	rs374259384		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:60064762C>T	ENST00000337908.4	+	3	384	c.294C>T	c.(292-294)tcC>tcT	p.S98S	MS4A4A_ENST00000355131.3_Silent_p.S79S|MS4A4A_ENST00000532114.1_Silent_p.S98S|MS4A4A_ENST00000395016.3_Silent_p.S79S	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	98						integral component of membrane (GO:0016021)		p.S79S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ACCCTATTTCCGTGTATATCG	0.378																																						ENST00000355131.3																			1	Substitution - coding silent(1)	p.S79S(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(235-237)tcC>tcT		membrane-spanning 4-domains, subfamily A, member 4A		C	,	1,4405	2.1+/-5.4	0,1,2202	164.0	138.0	147.0		237,294	-7.7	0.0	11		147	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MS4A4A	NM_024021.3,NM_148975.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	79/221,98/240	60064762	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60064762C>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.294C>T	11.37:g.60064762C>T						MS4A4A_ENST00000337908.4_Silent_p.S98S|MS4A4A_ENST00000395016.3_Silent_p.S79S|MS4A4A_ENST00000532114.1_Silent_p.S98S	p.S79S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			4	460	+			98					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.237C>T	CCDS7982.1																																																																																				0.378	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			10	46	0	0	0	1	0	10	46				
ADAM7	8756	broad.mit.edu	37	8	24304756	24304756	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:24304756C>T	ENST00000175238.6	+	3	297	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	ADAM7_ENST00000441335.2_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACCTTAGTCCTTCATCTTCT	0.328																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(214-216)Ctt>Ttt		ADAM metallopeptidase domain 7							110.0	116.0	114.0					8																	24304756		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24304756C>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.214C>T	8.37:g.24304756C>T	ENSP00000175238:p.Leu72Phe					ADAM7_ENST00000380789.1_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000523578.1_RNA	p.L72F	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	3	297	+		Prostate(55;0.0181)	72					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.214C>T	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557416	0.45590	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.20738	2.05;2.05;2.05	4.12	2.29	0.28610	Peptidase M12B, propeptide (1);	0.000000	0.44285	D	0.000473	T	0.40322	0.1112	M	0.81682	2.555	0.58432	D	0.999999	D;D	0.76494	0.983;0.999	D;D	0.68483	0.913;0.958	T	0.21245	-1.0251	10	0.87932	D	0	.	5.066	0.14582	0.2051:0.6879:0.0:0.107	.	72;72	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	F	72	ENSP00000393073:L72F;ENSP00000175238:L72F;ENSP00000370166:L72F	ENSP00000175238:L72F	L	+	1	0	ADAM7	24360646	0.981000	0.34729	0.735000	0.30896	0.974000	0.67602	1.667000	0.37471	0.679000	0.31345	0.655000	0.94253	CTT		0.328	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		20	76	0	0	0	1	0	20	76				
HTR2C	3358	broad.mit.edu	37	X	114082601	114082601	+	Missense_Mutation	SNP	G	G	A	rs374923946		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:114082601G>A	ENST00000276198.1	+	5	1113	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	HTR2C_ENST00000371950.3_Missense_Mutation_p.V129I|HTR2C_ENST00000371951.1_Missense_Mutation_p.V129I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	129					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTTGTGCCCCGTCTGGATTTC	0.408																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(385-387)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	G	ILE/VAL	1,3834		0,0,1,1632,570	197.0	165.0	176.0		385	3.3	1.0	X		176	0,6728		0,0,0,2428,1872	no	missense	HTR2C	NM_000868.2	29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	129/459	114082601	1,10562	2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082601G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.385G>A	X.37:g.114082601G>A	ENSP00000276198:p.Val129Ile					HTR2C_ENST00000371951.1_Missense_Mutation_p.V129I|HTR2C_ENST00000371950.3_Missense_Mutation_p.V129I	p.V129I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			5	1113	+			129					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.385G>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874555	0.33069	2.61E-4	0.0	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.36520	1.25;1.25;1.25	4.41	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.144783	0.44483	D	0.000454	T	0.13713	0.0332	N	0.05259	-0.085	0.30083	N	0.808982	P;B	0.42248	0.774;0.163	B;B	0.40782	0.34;0.042	T	0.20273	-1.0280	10	0.05351	T	0.99	.	6.2508	0.20845	0.264:0.0:0.736:0.0	.	129;129	B1AMW4;P28335	.;5HT2C_HUMAN	I	129	ENSP00000276198:V129I;ENSP00000361019:V129I;ENSP00000361018:V129I	ENSP00000276198:V129I	V	+	1	0	HTR2C	113988857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	1.771000	0.52183	0.544000	0.68410	GTC		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		35	92	0	0	0	1	0	35	92				
TBXAS1	6916	broad.mit.edu	37	7	139661796	139661796	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:139661796G>A	ENST00000336425.5	+	13	1287	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	TBXAS1_ENST00000416849.2_Missense_Mutation_p.V347I|TBXAS1_ENST00000263552.6_Missense_Mutation_p.V301I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V346I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000425687.1_Missense_Mutation_p.V233I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V300I			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	300					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CTTTGACATCGTCAGAGACGT	0.542																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(901-903)Gtc>Atc		thromboxane A synthase 1 (platelet)							97.0	84.0	89.0					7																	139661796		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139661796G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.898G>A	7.37:g.139661796G>A	ENSP00000338087:p.Val300Ile					TBXAS1_ENST00000425687.1_Missense_Mutation_p.V233I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V346I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V347I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.V300I	p.V301I	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			13	1439	+	Melanoma(164;0.0142)		300					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.901G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613029	0.46631	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.41;-0.41;-0.32;-0.41;-0.35;-0.41;-0.32;-0.37	5.28	5.28	0.74379	.	1.863740	0.02526	N	0.093046	T	0.59972	0.2233	L	0.55743	1.74	0.80722	D	1	B;B;B;P;B;B;B	0.35872	0.1;0.1;0.162;0.525;0.248;0.377;0.377	B;B;B;B;B;B;B	0.26310	0.036;0.036;0.039;0.068;0.039;0.047;0.047	T	0.56050	-0.8043	10	0.21540	T	0.41	.	7.8589	0.29499	0.1148:0.1561:0.7292:0.0	.	281;347;252;233;301;301;300	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	I	233;301;300;347;301;301;300;346;300	ENSP00000388736:V233I;ENSP00000263552:V301I;ENSP00000338087:V300I;ENSP00000389414:V347I;ENSP00000392361:V301I;ENSP00000392702:V301I;ENSP00000402536:V300I;ENSP00000411274:V346I;ENSP00000411326:V300I	ENSP00000263552:V301I	V	+	1	0	TBXAS1	139308265	0.964000	0.33143	0.455000	0.27031	0.052000	0.14988	3.083000	0.50136	2.756000	0.94617	0.655000	0.94253	GTC		0.542	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			8	40	0	0	0	1	0	8	40				
CABLES2	81928	broad.mit.edu	37	20	60966137	60966137	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:60966137G>A	ENST00000279101.5	-	10	1335	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	443					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATCAGGTCGCGCCTGTTGAAT	0.557																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(1327-1329)Cgc>Tgc		Cdk5 and Abl enzyme substrate 2							133.0	137.0	135.0					20																	60966137		2203	4300	6503	SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60966137G>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1327C>T	20.37:g.60966137G>A	ENSP00000279101:p.Arg443Cys						p.R443C	NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		10	1335	-	Breast(26;2.05e-08)		443					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.1327C>T	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449883	0.43531	.	.	ENSG00000149679	ENST00000370560;ENST00000279101	T	0.18016	2.24	5.42	0.648	0.17801	Cyclin, N-terminal (1);Cyclin-like (3);	0.054387	0.64402	D	0.000001	T	0.33235	0.0856	M	0.72894	2.215	0.52501	D	0.999951	D	0.76494	0.999	D	0.65140	0.932	T	0.06899	-1.0801	10	0.87932	D	0	-19.4305	9.2388	0.37484	0.0787:0.0:0.3966:0.5246	.	443	Q9BTV7	CABL2_HUMAN	C	231;443	ENSP00000279101:R443C	ENSP00000279101:R443C	R	-	1	0	CABLES2	60399532	1.000000	0.71417	0.180000	0.23079	0.150000	0.21749	1.785000	0.38684	0.227000	0.20999	0.650000	0.86243	CGC		0.557	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		13	34	0	0	0	1	0	13	34				
ACACB	32	broad.mit.edu	37	12	109604740	109604740	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:109604740C>A	ENST00000338432.7	+	3	847	c.728C>A	c.(727-729)aCc>aAc	p.T243N	ACACB_ENST00000377854.5_Missense_Mutation_p.T243N|ACACB_ENST00000377848.3_Missense_Mutation_p.T243N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	243					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGAGACTTTACCGTGGCTTCT	0.587																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(727-729)aCc>aAc		acetyl-CoA carboxylase beta	Biotin(DB00121)						91.0	83.0	86.0					12																	109604740		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109604740C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.728C>A	12.37:g.109604740C>A	ENSP00000341044:p.Thr243Asn					ACACB_ENST00000377854.5_Missense_Mutation_p.T243N|ACACB_ENST00000377848.3_Missense_Mutation_p.T243N	p.T243N			O00763	ACACB_HUMAN			3	847	+			243					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.728C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601814	0.46423	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.17528	2.27;2.27;2.27	5.31	5.31	0.75309	PreATP-grasp-like fold (1);	0.195738	0.52532	D	0.000066	T	0.18509	0.0444	L	0.37850	1.14	0.80722	D	1	B	0.26512	0.151	B	0.31442	0.13	T	0.03993	-1.0986	10	0.29301	T	0.29	.	18.5903	0.91208	0.0:1.0:0.0:0.0	.	243	O00763	ACACB_HUMAN	N	243	ENSP00000341044:T243N;ENSP00000367079:T243N;ENSP00000367085:T243N	ENSP00000341044:T243N	T	+	2	0	ACACB	108089123	1.000000	0.71417	0.551000	0.28230	0.268000	0.26511	7.741000	0.84997	2.470000	0.83445	0.491000	0.48974	ACC		0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	44	1	0	0.00909568	1	0.00919142	4	44				
HERC2P2	400322	broad.mit.edu	37	15	23311933	23311933	+	RNA	SNP	C	C	T	rs571889407	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:23311933C>T	ENST00000560464.1	-	0	3266									hect domain and RLD 2 pseudogene 2																		CGGCACTACACGGCTCTTCAC	0.627													-|||	5	0.000998403	0.0038	0.0	5008	,	,		15969	0.0		0.0	False		,,,				2504	0.0					ENST00000560464.1																			0																																																			0							g.chr15:23311933C>T	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23311933C>T														0	3266	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.627	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	11	0	0	0	1	0	4	11				
CCDC148	130940	broad.mit.edu	37	2	159196883	159196883	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:159196883C>G	ENST00000283233.5	-	5	670	c.357G>C	c.(355-357)caG>caC	p.Q119H	CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128H|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119H|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	119										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATATGTGCACTGTTGTTCTG	0.343																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(355-357)caG>caC		coiled-coil domain containing 148							128.0	126.0	127.0					2																	159196883		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159196883C>G		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.357G>C	2.37:g.159196883C>G	ENSP00000283233:p.Gln119His					CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119H|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33H|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128H	p.Q119H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			5	670	-			119					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.357G>C	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261540	0.23051	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.67	5.67	0.87782	.	.	.	.	.	T	0.26340	0.0643	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.009	B;B	0.11329	0.006;0.002	T	0.10543	-1.0625	9	0.26408	T	0.33	-0.008	15.2636	0.73643	0.0:1.0:0.0:0.0	.	33;119	F5H839;Q8NFR7	.;CC148_HUMAN	H	119;128;33;119	ENSP00000283233:Q119H;ENSP00000386674:Q128H;ENSP00000443740:Q33H;ENSP00000386583:Q119H	ENSP00000283233:Q119H	Q	-	3	2	CCDC148	158905129	0.252000	0.23972	0.827000	0.32855	0.245000	0.25701	4.319000	0.59197	2.669000	0.90835	0.655000	0.94253	CAG		0.343	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		6	42	0	0	0	1	0	6	42				
RHBDD2	57414	broad.mit.edu	37	7	75511478	75511478	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:75511478C>T	ENST00000006777.6	+	2	645	c.510C>T	c.(508-510)ctC>ctT	p.L170L	RHBDD2_ENST00000428119.1_Silent_p.L29L|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_Silent_p.L29L	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	170						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TTCCGTGGCTCCTGCTGGGTG	0.607																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(85-87)ctC>ctT		rhomboid domain containing 2							55.0	57.0	56.0					7																	75511478		2125	4238	6363	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511478C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.510C>T	7.37:g.75511478C>T						RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.L29L|RHBDD2_ENST00000006777.6_Silent_p.L170L	p.L29L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			3	716	+			170					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.87C>T	CCDS43602.1																																																																																				0.607	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		12	46	0	0	0	1	0	12	46				
CD19	930	broad.mit.edu	37	16	28944769	28944769	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:28944769G>A	ENST00000324662.3	+	4	818	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CD19_ENST00000567541.1_Silent_p.K258K|CD19_ENST00000538922.1_Silent_p.K258K			P15391	CD19_HUMAN	CD19 molecule	258	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACGCTGGAAAGTATTATTGTC	0.562																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(772-774)aaG>aaA		CD19 molecule							70.0	63.0	65.0					16																	28944769		2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28944769G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.774G>A	16.37:g.28944769G>A						CD19_ENST00000567541.1_Silent_p.K258K|CD19_ENST00000324662.3_Silent_p.K258K	p.K258K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			4	836	+			258			Ig-like C2-type 2.		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.774G>A	CCDS10644.1																																																																																				0.562	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			13	19	0	0	0	1	0	13	19				
ZNF764	92595	broad.mit.edu	37	16	30567015	30567015	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:30567015G>A	ENST00000252797.2	-	3	807	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.R242C	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGCGCCGAGCGCTGCGTGAAG	0.687																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(724-726)Cgc>Tgc		zinc finger protein 764							11.0	13.0	12.0					16																	30567015		2180	4272	6452	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567015G>A	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.727C>T	16.37:g.30567015G>A	ENSP00000252797:p.Arg243Cys					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R243C	p.R242C			Q96H86	ZN764_HUMAN			3	1039	-			243					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.724C>T	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.325909	0.41197	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.08634	3.07;3.07	4.62	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35805	N	0.002978	T	0.20780	0.0500	L	0.55743	1.74	0.35953	D	0.834069	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.93	T	0.04961	-1.0915	10	0.36615	T	0.2	-30.7423	10.151	0.42794	0.0:0.0:0.6863:0.3137	.	242;243	B3KSN2;Q96H86	.;ZN764_HUMAN	C	243;242	ENSP00000252797:R243C;ENSP00000378526:R242C	ENSP00000252797:R243C	R	-	1	0	ZNF764	30474516	0.000000	0.05858	1.000000	0.80357	0.085000	0.17905	-0.105000	0.10907	2.384000	0.81235	0.563000	0.77884	CGC		0.687	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		3	4	0	0	0	1	0	3	4				
TSSC4	10078	broad.mit.edu	37	11	2424084	2424084	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2424084C>T	ENST00000333256.6	+	3	664	c.221C>T	c.(220-222)cCa>cTa	p.P74L	TSSC4_ENST00000380992.1_Missense_Mutation_p.P10L|TSSC4_ENST00000380996.5_Missense_Mutation_p.P10L|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000451491.2_Missense_Mutation_p.P74L			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	74										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCCCAGCCACGGTG	0.662																																						ENST00000333256.6																			0				endometrium(3)|large_intestine(1)|lung(4)	8						c.(220-222)cCa>cTa		tumor suppressing subtransferable candidate 4							29.0	26.0	27.0					11																	2424084		2195	4295	6490	SO:0001583	missense	10078							g.chr11:2424084C>T	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.221C>T	11.37:g.2424084C>T	ENSP00000331087:p.Pro74Leu					TSSC4_ENST00000451491.2_Missense_Mutation_p.P74L|TSSC4_ENST00000380996.5_Missense_Mutation_p.P10L|TSSC4_ENST00000380992.1_Missense_Mutation_p.P10L	p.P74L			Q9Y5U2	TSSC4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)	3	664	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	74					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.221C>T	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	2.478	-0.320366	0.05386	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000435795;ENST00000485682;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T;T;T	0.45276	2.26;2.46;0.9;1.48;0.94;0.95;1.93;1.49;2.46	2.74	-0.823	0.10815	.	1.350010	0.05724	U	0.598272	T	0.28532	0.0706	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.01;0.103	B;B	0.19391	0.015;0.025	T	0.28586	-1.0039	10	0.39692	T	0.17	0.0029	8.2913	0.31958	0.1397:0.4028:0.4575:0.0	.	74;10	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	L	10;74;10;74;74;74;10;74;74	ENSP00000370384:P10L;ENSP00000331087:P74L;ENSP00000370380:P10L;ENSP00000396925:P74L;ENSP00000403475:P74L;ENSP00000431430:P74L;ENSP00000416937:P10L;ENSP00000435013:P74L;ENSP00000411224:P74L	ENSP00000331087:P74L	P	+	2	0	TSSC4	2380660	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.290000	0.08354	0.042000	0.15717	0.313000	0.20887	CCA		0.662	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		3	5	0	0	0	1	0	3	5				
ECHDC1	55862	broad.mit.edu	37	6	127652088	127652088	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:127652088G>T	ENST00000531967.1	-	2	607	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000454859.3_Missense_Mutation_p.S29Y|ECHDC1_ENST00000430841.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368291.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000309620.9_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000474289.2_Missense_Mutation_p.S29Y	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	35						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AAATCCATGGGATGTACTATA	0.398																																						ENST00000531967.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(103-105)tCc>tAc		enoyl CoA hydratase domain containing 1							88.0	83.0	84.0					6																	127652088		2203	4300	6503	SO:0001583	missense	55862						catalytic activity	g.chr6:127652088G>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.104C>A	6.37:g.127652088G>T	ENSP00000436585:p.Ser35Tyr					ECHDC1_ENST00000454859.3_Missense_Mutation_p.S29Y|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000368291.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000430841.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000474289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000309620.9_Missense_Mutation_p.S29Y	p.S35Y	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	2	607	-			35					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	c.104C>A	CCDS47471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.83|11.83	1.756737|1.756737	0.31137|0.31137	.|.	.|.	ENSG00000093144|ENSG00000093144	ENST00000436638|ENST00000454859;ENST00000531967;ENST00000368290;ENST00000474289;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582	.|T;T;T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;0.76;-0.16;0.85	6.06|6.06	3.33|3.33	0.38152|0.38152	.|.	.|0.743246	.|0.13596	.|N	.|0.376211	T|T	0.38268|0.38268	0.1034|0.1034	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|P;B	.|0.38863	.|0.65;0.325	.|B;B	.|0.37198	.|0.243;0.068	T|T	0.39375|0.39375	-0.9617|-0.9617	5|10	.|0.72032	.|D	.|0.01	-13.6379|-13.6379	5.0458|5.0458	0.14483|0.14483	0.1145:0.1205:0.6403:0.1247|0.1145:0.1205:0.6403:0.1247	.|.	.|29;35	.|Q5TEF6;Q9NTX5	.|.;ECHD1_HUMAN	T|Y	3|29;35;29;29;29;29;29;29;29;29;29	.|ENSP00000401751:S29Y;ENSP00000436585:S35Y;ENSP00000434908:S29Y;ENSP00000311115:S29Y;ENSP00000402492:S29Y;ENSP00000435502:S29Y	.|ENSP00000311115:S29Y	P|S	-|-	1|2	0|0	ECHDC1|ECHDC1	127693781|127693781	0.996000|0.996000	0.38824|0.38824	0.126000|0.126000	0.21872|0.21872	0.770000|0.770000	0.43624|0.43624	2.963000|2.963000	0.49184|0.49184	0.436000|0.436000	0.26393|0.26393	0.650000|0.650000	0.86243|0.86243	CCC|TCC		0.398	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			20	38	1	0	8.10497e-08	1	8.36642e-08	20	38				
CATSPERD	257062	broad.mit.edu	37	19	5772949	5772949	+	Silent	SNP	C	C	T	rs200017232		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:5772949C>T	ENST00000381624.3	+	20	1975	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	638					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.F638F(1)									TAAAGGAATTCGGGGGGCCCT	0.577																																						ENST00000381624.3																			1	Substitution - coding silent(1)	p.F638F(1)	upper_aerodigestive_tract(1)								c.(1912-1914)ttC>ttT		catsper channel auxiliary subunit delta							48.0	51.0	50.0					19																	5772949		1903	4111	6014	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5772949C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1914C>T	19.37:g.5772949C>T						CATSPERD_ENST00000309164.7_3'UTR	p.F638F	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			20	1975	+			638					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1914C>T	CCDS12149.2																																																																																				0.577	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		6	35	0	0	0	1	0	6	35				
CCNB3	85417	broad.mit.edu	37	X	50054451	50054451	+	Silent	SNP	T	T	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:50054451T>A	ENST00000376042.1	+	6	3580	c.3282T>A	c.(3280-3282)gcT>gcA	p.A1094A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.A1094A|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1094					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGAATCTGCTTCTGATAAAC	0.478																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3280-3282)gcT>gcA		cyclin B3							42.0	31.0	34.0					X																	50054451		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054451T>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3282T>A	X.37:g.50054451T>A						CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A1094A|CCNB3_ENST00000376038.1_Intron	p.A1094A			Q8WWL7	CCNB3_HUMAN			6	3580	+	Ovarian(276;0.236)		1094					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3282T>A	CCDS14331.1																																																																																				0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			8	36	0	0	0	1	0	8	36				
PTGFR	5737	broad.mit.edu	37	1	78958825	78958825	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:78958825C>T	ENST00000370757.3	+	2	634	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	PTGFR_ENST00000370758.1_Missense_Mutation_p.R133W|PTGFR_ENST00000370756.3_Missense_Mutation_p.R133W	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	133					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGCCATTGAGCGGTGTATTGG	0.403																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(397-399)Cgg>Tgg		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						159.0	149.0	152.0					1																	78958825		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958825C>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.397C>T	1.37:g.78958825C>T	ENSP00000359793:p.Arg133Trp					PTGFR_ENST00000370758.1_Missense_Mutation_p.R133W|PTGFR_ENST00000370757.3_Missense_Mutation_p.R133W	p.R133W	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	634	+			133					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.397C>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819880	0.71028	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	D;D;D	0.97186	-4.28;-4.28;-4.28	5.85	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98530	1.0627	10	0.87932	D	0	-11.4217	15.4407	0.75181	0.3614:0.6386:0.0:0.0	.	133;133	P43088;P43088-2	PF2R_HUMAN;.	W	133	ENSP00000359794:R133W;ENSP00000359793:R133W;ENSP00000359792:R133W	ENSP00000359792:R133W	R	+	1	2	PTGFR	78731413	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.399000	0.44495	0.868000	0.35678	0.655000	0.94253	CGG		0.403	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		38	101	0	0	0	1	0	38	101				
OR5D18	219438	broad.mit.edu	37	11	55587765	55587765	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:55587765G>A	ENST00000333976.4	+	1	680	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A220A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CATCTTATGCGTTCATTGTTG	0.483																																						ENST00000333976.4																			1	Substitution - coding silent(1)	p.A220A(1)	endometrium(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(658-660)gcG>gcA		olfactory receptor, family 5, subfamily D, member 18							184.0	152.0	163.0					11																	55587765		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587765G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.660G>A	11.37:g.55587765G>A							p.A220A	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	680	+		all_epithelial(135;0.208)	220					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.660G>A	CCDS31510.1																																																																																				0.483	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		15	81	0	0	0	1	0	15	81				
ABCA3	21	broad.mit.edu	37	16	2376171	2376171	+	Silent	SNP	G	G	A	rs191085051	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:2376171G>A	ENST00000301732.5	-	5	859	c.159C>T	c.(157-159)aaC>aaT	p.N53N	ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	53					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGATGGTGGCGTTGGGCACAT	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		19389	0.0		0.002	False		,,,				2504	0.0					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(157-159)aaC>aaT		ATP-binding cassette, sub-family A (ABC1), member 3							86.0	84.0	84.0					16																	2376171		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2376171G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.159C>T	16.37:g.2376171G>A						ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N	p.N53N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			5	859	-		Ovarian(90;0.17)	53					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.159C>T	CCDS10466.1																																																																																				0.572	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	27	0	0	0	1	0	10	27				
ANKAR	150709	broad.mit.edu	37	2	190541620	190541620	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:190541620C>G	ENST00000520309.1	+	2	492	c.404C>G	c.(403-405)cCt>cGt	p.P135R	ANKAR_ENST00000438402.2_Missense_Mutation_p.P135R|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.P135R|ANKAR_ENST00000431575.2_Missense_Mutation_p.P64R|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	135						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTCAATTACCTCCAGCTTAT	0.348																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(403-405)cCt>cGt		ankyrin and armadillo repeat containing							88.0	90.0	89.0					2																	190541620		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190541620C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.404C>G	2.37:g.190541620C>G	ENSP00000427882:p.Pro135Arg					ANKAR_ENST00000431575.2_Missense_Mutation_p.P64R|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.P135R|ANKAR_ENST00000438402.2_Missense_Mutation_p.P135R|ANKAR_ENST00000461516.1_Intron	p.P135R	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	492	+			135					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.404C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956542	0.73902	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575	T;T;T;T	0.57907	0.44;0.44;0.37;0.46	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000056	T	0.71099	0.3300	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.72191	-0.4365	10	0.87932	D	0	1.1783	19.6746	0.95926	0.0:1.0:0.0:0.0	.	135	Q7Z5J8	ANKAR_HUMAN	R	135;135;135;64	ENSP00000427882:P135R;ENSP00000313513:P135R;ENSP00000397243:P135R;ENSP00000393043:P64R	ENSP00000313513:P135R	P	+	2	0	ANKAR	190249865	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	6.164000	0.71885	2.747000	0.94245	0.650000	0.86243	CCT		0.348	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		24	72	0	0	0	1	0	24	72				
RPS6KA3	6197	broad.mit.edu	37	X	20227405	20227405	+	Splice_Site	SNP	C	C	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:20227405C>A	ENST00000379565.3	-	3	451		c.e3+1		RPS6KA3_ENST00000379548.4_Splice_Site|RPS6KA3_ENST00000540702.1_Splice_Site|RPS6KA3_ENST00000544447.1_Splice_Site	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3						axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TCATGACTTACCTTTCCAAAT	0.338																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.e3+1		ribosomal protein S6 kinase, 90kDa, polypeptide 3							164.0	127.0	139.0					X																	20227405		2203	4300	6503	SO:0001630	splice_region_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20227405C>A	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.243+1G>T	X.37:g.20227405C>A						RPS6KA3_ENST00000379548.4_Splice_Site|RPS6KA3_ENST00000544447.1_Splice_Site|RPS6KA3_ENST00000540702.1_Splice_Site		NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			3	451	-								B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Splice_Site	SNP	ENST00000379565.3	37		CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.807964	0.70797	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702;ENST00000457145;ENST00000438357	.	.	.	5.18	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2828	0.60226	0.16:0.84:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA3	20137326	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.560000	0.82277	1.061000	0.40601	0.513000	0.50165	.		0.338	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	Intron	39	97	1	0	3.61848e-18	1	3.94743e-18	39	97				
CHM	1121	broad.mit.edu	37	X	85119689	85119689	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:85119689C>T	ENST00000357749.2	-	15	1937	c.1908G>A	c.(1906-1908)tcG>tcA	p.S636S	CHM_ENST00000537751.1_Silent_p.S488S|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	636					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGAAAGTCTCCGAGTTAGCCT	0.453																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(1906-1908)tcG>tcA		choroideremia (Rab escort protein 1)							77.0	65.0	69.0					X																	85119689		2203	4300	6503	SO:0001819	synonymous_variant	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85119689C>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1908G>A	X.37:g.85119689C>T						CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Silent_p.S488S	p.S636S	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			15	1937	-		all_lung(315;5.41e-06)	636					A1L4D2|O43732	Silent	SNP	ENST00000357749.2	37	c.1908G>A	CCDS14454.1																																																																																				0.453	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		4	16	0	0	0	1	0	4	16				
ARHGEF4	50649	broad.mit.edu	37	2	131704164	131704164	+	Missense_Mutation	SNP	C	C	T	rs201813341		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:131704164C>T	ENST00000326016.5	+	4	902	c.383C>T	c.(382-384)aCg>aTg	p.T128M	ARHGEF4_ENST00000409359.1_Missense_Mutation_p.T984M|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.T128M|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.T128M|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.T128M|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.T128M	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	128					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGTGCTCCAACGGGACTGAAC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19890	0.0		0.001	False		,,,				2504	0.0					ENST00000409359.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(2950-2952)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 4							115.0	113.0	114.0					2																	131704164		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131704164C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.383C>T	2.37:g.131704164C>T	ENSP00000316845:p.Thr128Met					ARHGEF4_ENST00000409303.1_Missense_Mutation_p.T128M|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.T128M|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.T128M|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.T128M|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.T128M	p.T984M			Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	4	4149	+		Prostate(154;0.055)	128					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.2951C>T	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	1.489	-0.555129	0.03967	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.70399	0.91;-0.2;-0.31;0.9;0.92;-0.31;-0.48	4.48	-2.19	0.07015	.	0.734995	0.10189	N	0.704935	T	0.44746	0.1308	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.34181	0.133;0.44;0.028;0.012	B;B;B;B	0.21917	0.009;0.037;0.006;0.009	T	0.16129	-1.0413	10	0.41790	T	0.15	.	9.0652	0.36458	0.0:0.3949:0.0:0.6051	.	128;984;128;128	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	M	984;128;128;308;128;128;128	ENSP00000386794:T984M;ENSP00000316845:T128M;ENSP00000376680:T128M;ENSP00000389661:T308M;ENSP00000398455:T128M;ENSP00000432267:T128M;ENSP00000387285:T128M	ENSP00000316845:T128M	T	+	2	0	ARHGEF4	131420634	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-1.012000	0.03649	-0.474000	0.06862	-0.142000	0.14014	ACG		0.527	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			20	64	0	0	0	1	0	20	64				
BAAT	570	broad.mit.edu	37	9	104133578	104133578	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:104133578C>G	ENST00000395051.3	-	1	179	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	BAAT_ENST00000259407.2_Missense_Mutation_p.E37Q			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	37					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTTTCATCTTCCAGTGATGCC	0.478																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(109-111)Gaa>Caa		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						103.0	94.0	97.0					9																	104133578		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133578C>G	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.109G>C	9.37:g.104133578C>G	ENSP00000378491:p.Glu37Gln					BAAT_ENST00000395051.3_Missense_Mutation_p.E37Q	p.E37Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			2	217	-		Acute lymphoblastic leukemia(62;0.0559)	37					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.109G>C	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675497	0.29783	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.69685	-0.42;-0.42	4.41	-8.83	0.00806	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	1.245900	0.05654	N	0.585678	T	0.45577	0.1349	N	0.17674	0.51	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.40924	-0.9537	10	0.48119	T	0.1	-3.5063	8.5633	0.33525	0.0:0.4312:0.3766:0.1922	.	37	Q14032	BAAT_HUMAN	Q	37	ENSP00000259407:E37Q;ENSP00000378491:E37Q	ENSP00000259407:E37Q	E	-	1	0	BAAT	103173399	0.000000	0.05858	0.167000	0.22817	0.872000	0.50106	-0.621000	0.05559	-2.142000	0.00804	-0.302000	0.09304	GAA		0.478	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			18	78	0	0	0	1	0	18	78				
PTCHD1	139411	broad.mit.edu	37	X	23397847	23397847	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:23397847G>A	ENST00000379361.4	+	2	1351	c.491G>A	c.(490-492)cGg>cAg	p.R164Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	164					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGAATGCTCGGGCCACCAAT	0.473																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(490-492)cGg>cAg		patched domain containing 1							99.0	84.0	89.0					X																	23397847		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397847G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.491G>A	X.37:g.23397847G>A	ENSP00000368666:p.Arg164Gln						p.R164Q	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1351	+			164					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.491G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734018	0.89482	.	.	ENSG00000165186	ENST00000379361	D	0.85861	-2.04	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	L	0.40543	1.245	0.53688	D	0.999971	D;B	0.76494	0.999;0.443	P;B	0.56700	0.804;0.146	T	0.81841	-0.0747	10	0.12766	T	0.61	.	17.8115	0.88617	0.0:0.0:1.0:0.0	.	59;164	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	Q	164	ENSP00000368666:R164Q	ENSP00000368666:R164Q	R	+	2	0	PTCHD1	23307768	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.166000	0.94766	2.483000	0.83821	0.600000	0.82982	CGG		0.473	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		17	66	0	0	0	1	0	17	66				
TRPC7	57113	broad.mit.edu	37	5	135693011	135693011	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:135693011C>T	ENST00000513104.1	-	2	347	c.65G>A	c.(64-66)cGt>cAt	p.R22H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R22H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R22H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	22					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTGGCGACGGCCCTTCTC	0.597																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(64-66)cGt>cAt		transient receptor potential cation channel, subfamily C, member 7							43.0	49.0	47.0					5																	135693011		2115	4241	6356	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135693011C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.65G>A	5.37:g.135693011C>T	ENSP00000426070:p.Arg22His					TRPC7_ENST00000426057.2_Missense_Mutation_p.R22H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R22H	p.R22H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	347	-			22					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.65G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950067	0.92660	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.81330	-1.23;-1.39;-1.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.55990	1.75	0.41195	D	0.986337	D;B;B;P	0.76494	0.999;0.397;0.449;0.592	D;B;B;B	0.73380	0.98;0.17;0.134;0.189	D	0.87333	0.2326	10	0.51188	T	0.08	-15.2283	19.3333	0.94303	0.0:1.0:0.0:0.0	.	22;22;22;22	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	22	ENSP00000347312:R22H;ENSP00000441628:R22H;ENSP00000426070:R22H	ENSP00000265193:R22H	R	-	2	0	TRPC7	135720910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	CGT		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		16	54	0	0	0	1	0	16	54				
CACNA2D1	781	broad.mit.edu	37	7	81600001	81600001	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81600001A>G	ENST00000356253.5	-	27	2485	c.2230T>C	c.(2230-2232)Tat>Cat	p.Y744H	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.Y732H|CACNA2D1_ENST00000535308.1_Silent_p.F7F			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	744					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCTTTGGGATAAACTCTGGTA	0.363																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2194-2196)Tat>Cat		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						138.0	131.0	134.0					7																	81600001		2203	4299	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81600001A>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2230T>C	7.37:g.81600001A>G	ENSP00000348589:p.Tyr744His					CACNA2D1_ENST00000535308.1_Silent_p.F7F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y744H	p.Y732H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			27	2532	-			744					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2194T>C		.	.	.	.	.	.	.	.	.	.	A	17.77	3.471842	0.63737	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.70869	-0.52;-0.52	5.54	5.54	0.83059	.	0.361115	0.29438	N	0.012151	T	0.79992	0.4542	M	0.62723	1.935	0.80722	D	1	D	0.55385	0.971	D	0.65987	0.94	T	0.76130	-0.3072	10	0.18276	T	0.48	-16.5894	15.3598	0.74464	1.0:0.0:0.0:0.0	.	732	P54289-2	.	H	732;751;744	ENSP00000349320:Y732H;ENSP00000348589:Y744H	ENSP00000284088:Y751H	Y	-	1	0	CACNA2D1	81437937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.856000	0.92245	2.107000	0.64212	0.477000	0.44152	TAT		0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				20	58	0	0	0	1	0	20	58				
SLC2A1	6513	broad.mit.edu	37	1	43395570	43395570	+	Missense_Mutation	SNP	C	C	T	rs374080633		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43395570C>T	ENST00000426263.3	-	5	831	c.653G>A	c.(652-654)cGc>cAc	p.R218H	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	218					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTCCTCGTTGCGGTTGATGAG	0.652																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	GRCh37	CM057215	SLC2A1	M		c.(652-654)cGc>cAc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						86.0	84.0	85.0					1																	43395570		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395570C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.653G>A	1.37:g.43395570C>T	ENSP00000416293:p.Arg218His					SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	p.R218H	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			5	831	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	218					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.653G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083280	0.76642	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.74947	-0.89;-0.89	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.175789	0.51477	D	0.000096	T	0.80984	0.4729	L	0.48935	1.535	0.80722	D	1	D	0.76494	0.999	P	0.62491	0.903	T	0.82212	-0.0569	10	0.59425	D	0.04	.	16.4098	0.83704	0.0:1.0:0.0:0.0	.	218	P11166	GTR1_HUMAN	H	218;218;160;123	ENSP00000416293:R218H;ENSP00000395521:R123H	ENSP00000361579:R218H	R	-	2	0	SLC2A1	43168157	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.600000	0.46240	2.462000	0.83206	0.650000	0.86243	CGC		0.652	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		14	35	0	0	0	1	0	14	35				
C8orf34	116328	broad.mit.edu	37	8	69552632	69552632	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:69552632T>G	ENST00000539993.1	+	8	1418	c.869T>G	c.(868-870)aTg>aGg	p.M290R	C8orf34_ENST00000337103.4_Missense_Mutation_p.M265R|C8orf34_ENST00000518698.1_Missense_Mutation_p.M376R|C8orf34_ENST00000325233.3_Missense_Mutation_p.M34R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	290										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GATTTAAGAATGGAGGGAGTA	0.398																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(793-795)aTg>aGg		chromosome 8 open reading frame 34							83.0	78.0	80.0					8																	69552632		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552632T>G	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.869T>G	8.37:g.69552632T>G	ENSP00000438159:p.Met290Arg					C8orf34_ENST00000518698.1_Missense_Mutation_p.M376R|C8orf34_ENST00000539993.1_Missense_Mutation_p.M290R|C8orf34_ENST00000325233.3_Missense_Mutation_p.M34R	p.M265R			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	2386	+			290					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.794T>G		.	.	.	.	.	.	.	.	.	.	T	13.62	2.290850	0.40494	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.58797	0.88;0.91;0.9;0.31	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	L	0.56769	1.78	0.58432	D	0.999996	D	0.58970	0.984	D	0.71656	0.974	T	0.71189	-0.4666	9	.	.	.	-12.8922	15.5537	0.76173	0.0:0.0:0.0:1.0	.	290	Q49A92	CH034_HUMAN	R	376;290;265;34	ENSP00000427820:M376R;ENSP00000438159:M290R;ENSP00000337174:M265R;ENSP00000319532:M34R	.	M	+	2	0	C8orf34	69715186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.079000	0.62486	0.482000	0.46254	ATG		0.398	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		13	35	0	0	0	1	0	13	35				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		4	43	1	0	0.150653	1	0.150653	4	43				
EBF2	64641	broad.mit.edu	37	8	25747368	25747368	+	Silent	SNP	C	C	T	rs189560419		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:25747368C>T	ENST00000520164.1	-	8	1188	c.651G>A	c.(649-651)acG>acA	p.T217T	EBF2_ENST00000535548.1_5'Flank|EBF2_ENST00000408929.3_Silent_p.T69T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	217					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCACATTCACCGTTGTTGACA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20401	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(649-651)acG>acA		early B-cell factor 2							94.0	87.0	89.0					8																	25747368		1993	4171	6164	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25747368C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.651G>A	8.37:g.25747368C>T						EBF2_ENST00000408929.3_Silent_p.T69T	p.T217T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	8	1188	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	217					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.651G>A	CCDS43726.1																																																																																				0.428	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		20	58	0	0	0	1	0	20	58				
ME2	4200	broad.mit.edu	37	18	48439304	48439304	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:48439304A>C	ENST00000321341.5	+	4	648	c.376A>C	c.(376-378)Atc>Ctc	p.I126L	ME2_ENST00000382927.3_Missense_Mutation_p.I126L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	126					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GTATGGACACATCTTTAGAAG	0.328																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(376-378)Atc>Ctc		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						123.0	123.0	123.0					18																	48439304		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48439304A>C	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.376A>C	18.37:g.48439304A>C	ENSP00000321070:p.Ile126Leu					ME2_ENST00000382927.3_Missense_Mutation_p.I126L	p.I126L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	4	648	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	126					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.376A>C	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626517	0.66901	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.41400	1.0;1.0	5.37	5.37	0.77165	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	L	0.42744	1.35	0.80722	D	1	B;B	0.25955	0.001;0.138	B;P	0.49799	0.04;0.622	T	0.60151	-0.7319	10	0.72032	D	0.01	-11.3523	14.6478	0.68772	1.0:0.0:0.0:0.0	.	126;126	Q9BWL6;P23368	.;MAOM_HUMAN	L	126	ENSP00000321070:I126L;ENSP00000372384:I126L	ENSP00000321070:I126L	I	+	1	0	ME2	46693302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.197000	0.65141	2.154000	0.67381	0.533000	0.62120	ATC		0.328	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		25	52	0	0	0	1	0	25	52				
ADAM2	2515	broad.mit.edu	37	8	39624684	39624684	+	Silent	SNP	G	G	A	rs150053966	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:39624684G>A	ENST00000265708.4	-	13	1402	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ADAM2_ENST00000521880.1_Silent_p.C433C|ADAM2_ENST00000379853.2_Silent_p.C307C|ADAM2_ENST00000347580.4_Silent_p.C414C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	433	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACAGTTTTCGCAGCATGGTC	0.348													.|||	3	0.000599042	0.0	0.0	5008	,	,		20476	0.002		0.001	False		,,,				2504	0.0					ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1297-1299)tgC>tgT		ADAM metallopeptidase domain 2							157.0	153.0	154.0					8																	39624684		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624684G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1299C>T	8.37:g.39624684G>A						ADAM2_ENST00000521880.1_Silent_p.C433C|ADAM2_ENST00000347580.4_Silent_p.C414C|ADAM2_ENST00000379853.2_Silent_p.C307C	p.C433C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	13	1402	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	433			Disintegrin.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1299C>T	CCDS34884.1																																																																																				0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		25	63	0	0	0	1	0	25	63				
FMO5	2330	broad.mit.edu	37	1	146649676	146649676	+	RNA	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:146649676C>G	ENST00000607149.1	+	0	350				RP11-337C18.9_ENST00000606152.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							CGGCTGCCCCCACCCCACCTC	0.677																																						ENST00000607149.1																			0																																																			0							g.chr1:146649676C>G																													1.37:g.146649676C>G														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.677	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			6	7	0	0	0	1	0	6	7				
PRR23B	389151	broad.mit.edu	37	3	138738846	138738846	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:138738846G>A	ENST00000329447.5	-	1	922	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	220	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGAAGGCGGAATTCCAGG	0.662																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(658-660)Cgc>Tgc		proline rich 23B							38.0	42.0	40.0					3																	138738846		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138738846G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.658C>T	3.37:g.138738846G>A	ENSP00000328768:p.Arg220Cys					MRPS22_ENST00000495075.1_Intron	p.R220C	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	922	-			220			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.658C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367814	0.42003	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.5	0.431	0.16523	.	0.994069	0.08158	N	0.988912	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25950	-1.0117	9	0.72032	D	0.01	.	1.7565	0.02983	0.1225:0.1969:0.4598:0.2209	.	220	Q6ZRT6	PR23B_HUMAN	C	220	.	ENSP00000328768:R220C	R	-	1	0	PRR23B	140221536	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.002000	0.12924	0.076000	0.16826	0.563000	0.77884	CGC		0.662	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		7	16	0	0	0	1	0	7	16				
SCRIB	23513	broad.mit.edu	37	8	144893419	144893419	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:144893419C>T	ENST00000320476.3	-	10	1009	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	SCRIB_ENST00000356994.2_Missense_Mutation_p.V335M|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.V254M	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	335	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGAGTGCCACACAGCCCCCG	0.677																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1003-1005)Gtg>Atg		scribbled planar cell polarity protein							31.0	25.0	27.0					8																	144893419		2201	4297	6498	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893419C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1003G>A	8.37:g.144893419C>T	ENSP00000322938:p.Val335Met					SCRIB_ENST00000320476.3_Missense_Mutation_p.V335M|SCRIB_ENST00000377533.3_Missense_Mutation_p.V254M	p.V335M	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		10	1009	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		335			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1003G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	8.417	0.845421	0.16963	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.53206	2.19;0.63;1.81	3.14	0.204	0.15199	.	.	.	.	.	T	0.45895	0.1365	L	0.42245	1.32	0.09310	N	1	P;P	0.50943	0.938;0.94	P;P	0.50617	0.646;0.601	T	0.34601	-0.9822	9	0.48119	T	0.1	.	8.3548	0.32324	0.0:0.6992:0.0:0.3008	.	335;335	Q14160;Q14160-3	SCRIB_HUMAN;.	M	335;335;254	ENSP00000349486:V335M;ENSP00000322938:V335M;ENSP00000366756:V254M	ENSP00000322938:V335M	V	-	1	0	SCRIB	144965407	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.038000	0.12144	0.172000	0.19760	0.563000	0.77884	GTG		0.677	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		3	8	0	0	0	1	0	3	8				
KCNT2	343450	broad.mit.edu	37	1	196250026	196250026	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:196250026G>C	ENST00000294725.9	-	25	3789	c.2874C>G	c.(2872-2874)atC>atG	p.I958M	KCNT2_ENST00000609185.1_Missense_Mutation_p.I884M|KCNT2_ENST00000367433.5_Missense_Mutation_p.I934M|KCNT2_ENST00000367431.4_Missense_Mutation_p.I884M|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	958					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTCCTGTAGATTCCAATGG	0.353																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2800-2802)atC>atG		potassium channel, subfamily T, member 2							97.0	99.0	98.0					1																	196250026		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196250026G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2874C>G	1.37:g.196250026G>C	ENSP00000294725:p.Ile958Met					KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I884M|KCNT2_ENST00000294725.8_Missense_Mutation_p.I958M|KCNT2_ENST00000498426.1_5'UTR	p.I934M			Q6UVM3	KCNT2_HUMAN			24	2903	-			958					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2802C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453191	0.63290	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.79845	-1.31;-1.31;-1.31	5.52	4.61	0.57282	.	0.096999	0.45867	D	0.000337	D	0.87853	0.6282	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D	0.60575	0.98;0.988;0.988;0.988;0.98	P;D;P;D;P	0.67382	0.786;0.934;0.894;0.951;0.786	D	0.87876	0.2674	10	0.87932	D	0	-11.0064	5.7158	0.17960	0.1613:0.0:0.6808:0.1578	.	958;916;934;884;958	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	M	934;884;958	ENSP00000356403:I934M;ENSP00000356401:I884M;ENSP00000294725:I958M	ENSP00000294725:I958M	I	-	3	3	KCNT2	194516649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.329000	0.33770	1.472000	0.48140	0.557000	0.71058	ATC		0.353	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		12	34	0	0	0	1	0	12	34				
ZCCHC5	203430	broad.mit.edu	37	X	77913359	77913359	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:77913359G>A	ENST00000321110.1	-	2	854	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	187	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCCTGGGGAGGTGGAAGCTCA	0.537																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(559-561)Cct>Tct		zinc finger, CCHC domain containing 5							41.0	41.0	41.0					X																	77913359		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913359G>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.559C>T	X.37:g.77913359G>A	ENSP00000316794:p.Pro187Ser						p.P187S	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	854	-			187			Pro-rich.		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.559C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.432832	0.01108	.	.	ENSG00000179300	ENST00000321110	T	0.17691	2.26	3.46	-5.74	0.02391	.	.	.	.	.	T	0.05547	0.0146	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	9	0.07175	T	0.84	.	1.35	0.02171	0.2436:0.2501:0.329:0.1772	.	187	Q8N8U3	ZCHC5_HUMAN	S	187	ENSP00000316794:P187S	ENSP00000316794:P187S	P	-	1	0	ZCCHC5	77800015	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.423000	0.01030	-1.795000	0.01255	-3.016000	0.00074	CCT		0.537	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		8	42	0	0	0	1	0	8	42				
HGF	3082	broad.mit.edu	37	7	81381472	81381472	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81381472G>A	ENST00000222390.5	-	5	815	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	HGF_ENST00000453411.1_Missense_Mutation_p.R192C|HGF_ENST00000423064.2_Missense_Mutation_p.R197C|HGF_ENST00000457544.2_Missense_Mutation_p.R192C|HGF_ENST00000444829.2_Missense_Mutation_p.R197C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	197	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTTCGTAGCGTACCTCTGGA	0.483																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(589-591)Cgc>Tgc		hepatocyte growth factor (hepapoietin A; scatter factor)							152.0	130.0	138.0					7																	81381472		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381472G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.589C>T	7.37:g.81381472G>A	ENSP00000222390:p.Arg197Cys					HGF_ENST00000457544.2_Missense_Mutation_p.R192C|HGF_ENST00000444829.2_Missense_Mutation_p.R197C|HGF_ENST00000423064.2_Missense_Mutation_p.R197C|HGF_ENST00000453411.1_Missense_Mutation_p.R192C	p.R197C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			5	815	-			197			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.589C>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078237	0.94000	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	6.05	6.05	0.98169	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;0.993;0.996	D	0.91549	0.5255	10	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	232;192;197;192;197	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	C	197;192;197;192;197;197	ENSP00000222390:R197C;ENSP00000391238:R192C;ENSP00000389854:R197C;ENSP00000408270:R192C;ENSP00000413829:R197C	ENSP00000222390:R197C	R	-	1	0	HGF	81219408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.966000	0.93397	2.880000	0.98712	0.655000	0.94253	CGC		0.483	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		3	60	0	0	0	1	0	3	60				
RTN1	6252	broad.mit.edu	37	14	60194231	60194231	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:60194231C>T	ENST00000267484.5	-	3	1506	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	391					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGCGGTCCGGACCTGGCC	0.672																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1171-1173)Gga>Aga		reticulon 1							16.0	16.0	16.0					14																	60194231		2197	4293	6490	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60194231C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1171G>A	14.37:g.60194231C>T	ENSP00000267484:p.Gly391Arg						p.G391R	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1506	-			391					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1171G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922169	0.33908	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.25085	1.82	5.49	5.49	0.81192	.	0.273877	0.36268	N	0.002698	T	0.31918	0.0812	M	0.72894	2.215	0.36677	D	0.878845	D	0.65815	0.995	P	0.46320	0.512	T	0.31336	-0.9947	10	0.20046	T	0.44	.	12.6726	0.56876	0.0:0.9243:0.0:0.0756	.	391	Q16799	RTN1_HUMAN	R	391;317	ENSP00000267484:G391R	ENSP00000267484:G391R	G	-	1	0	RTN1	59263984	0.950000	0.32346	0.962000	0.40283	0.170000	0.22686	3.139000	0.50577	2.580000	0.87095	0.655000	0.94253	GGA		0.672	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			4	9	0	0	0	1	0	4	9				
NUMA1	4926	broad.mit.edu	37	11	71729545	71729545	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:71729545T>C	ENST00000393695.3	-	11	1088	c.757A>G	c.(757-759)Atg>Gtg	p.M253V	NUMA1_ENST00000358965.6_Missense_Mutation_p.M253V|NUMA1_ENST00000351960.6_Missense_Mutation_p.M253V|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGCATCATGGCTATCTGT	0.562			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(757-759)Atg>Gtg		nuclear mitotic apparatus protein 1							51.0	48.0	49.0					11																	71729545		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729545T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.757A>G	11.37:g.71729545T>C	ENSP00000377298:p.Met253Val					NUMA1_ENST00000351960.6_Missense_Mutation_p.M253V|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.M253V	p.M253V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			11	1088	-			253						Missense_Mutation	SNP	ENST00000393695.3	37	c.757A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	3.402	-0.122087	0.06795	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.42900	2.29;2.75;2.75;1.53;0.96	5.36	-8.11	0.01082	.	0.830910	0.11106	N	0.599129	T	0.19525	0.0469	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0;0.0	T	0.18555	-1.0333	10	0.30078	T	0.28	.	11.8763	0.52550	0.0:0.5785:0.2156:0.2059	.	253;253;253;253;253;253	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	V	253	ENSP00000260051:M253V;ENSP00000351851:M253V;ENSP00000377298:M253V;ENSP00000444880:M253V;ENSP00000442936:M253V	ENSP00000260051:M253V	M	-	1	0	NUMA1	71407193	0.000000	0.05858	0.007000	0.13788	0.081000	0.17604	-1.371000	0.02573	-1.514000	0.01786	-0.408000	0.06270	ATG		0.562	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	27	0	0	0	1	0	4	27				
GNB2L1	10399	broad.mit.edu	37	5	180669308	180669308	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:180669308C>G	ENST00000512805.1	-	2	555	c.147G>C	c.(145-147)gaG>gaC	p.E49D	GNB2L1_ENST00000456394.2_Missense_Mutation_p.E49D|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000511900.1_Missense_Mutation_p.E49D|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000505461.1_5'UTR|SNORD95_ENST00000579879.1_RNA	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	49					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CATAGTTGGTCTCATCCCTGG	0.488																																						ENST00000512805.1																			0				lung(3)|skin(2)	5						c.(145-147)gaG>gaC		guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1							97.0	83.0	88.0					5																	180669308		2203	4300	6503	SO:0001583	missense	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180669308C>G	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.147G>C	5.37:g.180669308C>G	ENSP00000426909:p.Glu49Asp					GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000456394.2_Missense_Mutation_p.E49D|GNB2L1_ENST00000511900.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.E49D	p.E49D	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	2	555	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	49					B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	ENST00000512805.1	37	c.147G>C	CCDS34324.1	.	.	.	.	.	.	.	.	.	.	C	6.431	0.447650	0.12223	.	.	ENSG00000204628	ENST00000511566;ENST00000512805;ENST00000511900;ENST00000512968;ENST00000510199;ENST00000502844;ENST00000507000;ENST00000503081;ENST00000513027;ENST00000456394	T;T;T;T;T;T;T;T;T;T	0.72051	0.32;0.38;0.25;0.49;0.38;0.37;0.4;-0.62;-0.15;0.06	5.77	3.98	0.46160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161665	0.53938	D	0.000049	T	0.44519	0.1297	N	0.05351	-0.065	0.58432	D	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.28396	-1.0045	10	0.11794	T	0.64	-22.9177	8.1638	0.31215	0.0:0.7535:0.0:0.2465	.	49;20;97;49	E9PD14;B4DVD2;D6R9L0;P63244	.;.;.;GBLP_HUMAN	D	49;49;49;49;97;35;8;49;89;49	ENSP00000426101:E49D;ENSP00000426909:E49D;ENSP00000422768:E49D;ENSP00000425008:E49D;ENSP00000423569:E97D;ENSP00000422029:E35D;ENSP00000421416:E8D;ENSP00000424237:E49D;ENSP00000421356:E89D;ENSP00000394470:E49D	ENSP00000394470:E49D	E	-	3	2	GNB2L1	180601914	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	0.940000	0.28992	1.444000	0.47605	0.655000	0.94253	GAG		0.488	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		4	24	0	0	0	1	0	4	24				
ENPP5	59084	broad.mit.edu	37	6	46135348	46135348	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:46135348G>T	ENST00000371383.2	-	3	912	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.L218I					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATTTGTATGAGATATCCTAAC	0.443																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(652-654)Ctc>Atc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							108.0	98.0	101.0					6																	46135348		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135348G>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.652C>A	6.37:g.46135348G>T	ENSP00000360436:p.Leu218Ile					ENPP5_ENST00000230565.3_Missense_Mutation_p.L218I	p.L218I			Q9UJA9	ENPP5_HUMAN			3	912	-			218						Missense_Mutation	SNP	ENST00000371383.2	37	c.652C>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063250	0.76187	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.81330	-1.48;-1.48	5.33	5.33	0.75918	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	M	0.75615	2.305	0.45439	D	0.998416	D;D	0.55605	0.972;0.972	P;P	0.60415	0.773;0.874	D	0.85757	0.1347	10	0.59425	D	0.04	-15.1696	12.7185	0.57129	0.0751:0.0:0.9249:0.0	.	218;218	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	I	218	ENSP00000360436:L218I;ENSP00000230565:L218I	ENSP00000230565:L218I	L	-	1	0	ENPP5	46243307	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.277000	0.72608	2.652000	0.90054	0.655000	0.94253	CTC		0.443	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			21	64	1	0	4.96729e-08	1	5.18326e-08	21	64				
CASC4	113201	broad.mit.edu	37	15	44705563	44705563	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:44705563C>G	ENST00000345795.2	+	9	1372	c.1102C>G	c.(1102-1104)Cct>Gct	p.P368A	CASC4_ENST00000299957.6_Missense_Mutation_p.P424A|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	370						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TCAAATGGATCCTGCAGACTA	0.318																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(1270-1272)Cct>Gct		cancer susceptibility candidate 4							66.0	65.0	65.0					15																	44705563		2198	4297	6495	SO:0001583	missense	113201					integral to membrane		g.chr15:44705563C>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.1102C>G	15.37:g.44705563C>G	ENSP00000335063:p.Pro368Ala					CASC4_ENST00000345795.2_Missense_Mutation_p.P368A|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR	p.P424A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	10	1569	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	199					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.1270C>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240027	0.39598	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.81	4.81	0.61882	.	0.414483	0.26840	N	0.022235	T	0.58004	0.2092	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.982;0.99	P;D	0.63703	0.831;0.917	T	0.51124	-0.8745	9	0.13108	T	0.6	.	16.0836	0.81023	0.0:1.0:0.0:0.0	.	368;424	Q6P4E1-2;G5E934	.;.	A	424;368;403	.	ENSP00000299957:P424A	P	+	1	0	CASC4	42492855	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.759000	0.47573	2.401000	0.81631	0.644000	0.83932	CCT		0.318	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		4	31	0	0	0	1	0	4	31				
MECOM	2122	broad.mit.edu	37	3	168806963	168806963	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:168806963T>C	ENST00000464456.1	-	14	4019	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G	MECOM_ENST00000472280.1_Missense_Mutation_p.E950G|MECOM_ENST00000460814.1_Missense_Mutation_p.E940G|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128G|MECOM_ENST00000433243.2_Missense_Mutation_p.E950G|MECOM_ENST00000264674.3_Missense_Mutation_p.E1014G|MECOM_ENST00000392736.3_Missense_Mutation_p.E949G|MECOM_ENST00000468789.1_Missense_Mutation_p.E949G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATATTCTTCCTCTTTATACCT	0.303																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2818-2820)gAg>gGg		MDS1 and EVI1 complex locus							67.0	66.0	66.0					3																	168806963		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168806963T>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2819A>G	3.37:g.168806963T>C	ENSP00000419770:p.Glu940Gly					MECOM_ENST00000392736.3_Missense_Mutation_p.E949G|MECOM_ENST00000468789.1_Missense_Mutation_p.E949G|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128G|MECOM_ENST00000460814.1_Missense_Mutation_p.E940G|MECOM_ENST00000433243.2_Missense_Mutation_p.E950G|MECOM_ENST00000472280.1_Missense_Mutation_p.E950G|MECOM_ENST00000264674.3_Missense_Mutation_p.E1014G	p.E940G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			14	4019	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2819A>G	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981418	0.74474	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06608	3.33;3.32;3.29;3.43;3.29;3.32;3.28;3.43	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000006	T	0.15478	0.0373	L	0.43152	1.355	0.53005	D	0.999961	P;D;P;D;D	0.59357	0.902;0.983;0.828;0.983;0.985	B;P;B;P;P	0.57009	0.415;0.811;0.17;0.811;0.777	T	0.00196	-1.1931	10	0.72032	D	0.01	-16.6973	16.1485	0.81594	0.0:0.0:0.0:1.0	.	1137;941;1128;1014;949	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	G	1014;949;940;950;1128;949;940;950	ENSP00000264674:E1014G;ENSP00000376493:E949G;ENSP00000419770:E940G;ENSP00000420048:E950G;ENSP00000417899:E1128G;ENSP00000419995:E949G;ENSP00000420466:E940G;ENSP00000394302:E950G	ENSP00000264674:E1014G	E	-	2	0	MECOM	170289657	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.271000	0.65553	2.281000	0.76405	0.533000	0.62120	GAG		0.303	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		7	38	0	0	0	1	0	7	38				
KEL	3792	broad.mit.edu	37	7	142651436	142651436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:142651436G>T	ENST00000355265.2	-	8	1233	c.759C>A	c.(757-759)taC>taA	p.Y253*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	253					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGATTCAGGTAAGTCAGGT	0.527																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(757-759)taC>taA		Kell blood group, metallo-endopeptidase							113.0	113.0	113.0					7																	142651436		2203	4300	6503	SO:0001587	stop_gained	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651436G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.759C>A	7.37:g.142651436G>T	ENSP00000347409:p.Tyr253*					KEL_ENST00000479768.2_5'UTR	p.Y253*	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			8	1233	-	Melanoma(164;0.059)		253					B2RBV4|Q96RS8|Q99885	Nonsense_Mutation	SNP	ENST00000355265.2	37	c.759C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568064	0.28003	.	.	ENSG00000197993	ENST00000355265;ENST00000476829	.	.	.	6.07	4.21	0.49690	.	0.000000	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7596	9.1774	0.37120	0.1779:0.0:0.8221:0.0	.	.	.	.	X	253;183	.	ENSP00000347409:Y253X	Y	-	3	2	KEL	142361558	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	1.160000	0.31761	1.516000	0.48900	0.585000	0.79938	TAC		0.527	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		20	80	1	0	4.63292e-17	1	4.99731e-17	20	80				
MRPL35	51318	broad.mit.edu	37	2	86434352	86434352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:86434352delC	ENST00000337109.4	+	3	314	c.280delC	c.(280-282)ctafs	p.L94fs	MRPL35_ENST00000409180.1_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000254644.8_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000605125.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	94					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGTCAGATCTCTAACATACTT	0.403																																						ENST00000337109.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(280-282)tafs		mitochondrial ribosomal protein L35							67.0	63.0	64.0					2																	86434352		2203	4300	6503	SO:0001589	frameshift_variant	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86434352delC	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.280delC	2.37:g.86434352delC	ENSP00000338389:p.Leu94fs					MRPL35_ENST00000409180.1_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000254644.8_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000605125.1_Intron	p.L94fs	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN			3	314	+			94					A6NKV6|B2RB93|Q658U7|Q8WWA2	Frame_Shift_Del	DEL	ENST00000337109.4	37	c.280delC	CCDS1988.1																																																																																				0.403	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		11	25						11	25	---	---	---	---
GABRR3	200959	broad.mit.edu	37	3	97727875	97727875	+	RNA	DEL	C	C	-	rs78317321		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:97727875delC	ENST00000472788.1	-	0	539					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATGGCCGAAACCGTTATCCTA	0.403																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							51.0	44.0	46.0					3																	97727875		1850	4090	5940			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97727875delC	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97727875delC								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	539	-								Q9UIV9	RNA	DEL	ENST00000472788.1	37																																																																																						0.403	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			2	4						2	4	---	---	---	---
MEF2C-AS1	101929423	broad.mit.edu	37	5	88215294	88215295	+	RNA	INS	-	-	A	rs34178270		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:88215294_88215295insA	ENST00000514011.1	+	0	208				MEF2C-AS1_ENST00000513704.1_RNA|MEF2C-AS1_ENST00000509179.1_RNA|MEF2C-AS1_ENST00000514794.1_RNA|MEF2C-AS1_ENST00000506665.1_RNA|MEF2C-AS1_ENST00000508718.1_RNA|MEF2C-AS1_ENST00000512585.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA|MEF2C-AS1_ENST00000511100.1_RNA|MEF2C-AS1_ENST00000514158.1_RNA	NR_104031.1				MEF2C antisense RNA 1																		TCTGATTTCATAAAAAAAAAAA	0.327																																						ENST00000514011.1																			0																																																			0							g.chr5:88215294_88215295insA	CD702404		5q14.3	2014-01-06			ENSG00000248309	ENSG00000248309		"""Long non-coding RNAs"""	48908	non-coding RNA	RNA, long non-coding						23801869	Standard	NR_104031		Approved				OTTHUMG00000162630		5.37:g.88215305_88215305dupA						MEF2C-AS1_ENST00000506665.1_RNA|MEF2C-AS1_ENST00000508718.1_RNA|MEF2C-AS1_ENST00000513704.1_RNA|MEF2C-AS1_ENST00000514794.1_RNA|MEF2C-AS1_ENST00000511100.1_RNA|MEF2C-AS1_ENST00000512585.1_RNA|MEF2C-AS1_ENST00000509179.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA|MEF2C-AS1_ENST00000514158.1_RNA								0	208	+									RNA	INS	ENST00000514011.1	37																																																																																						0.327	MEF2C-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369795.1			3	5						3	5	---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641906	55641907	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:55641906_55641907insT	ENST00000343870.4	+	1	925_926	c.835_836insT	c.(835-837)gttfs	p.V279fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAGCACTTCTGTTGCCCCCATG	0.371																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(835-837)tgcfs		olfactory receptor, family 6, subfamily C, member 74																																				SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641906_55641907insT		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.837dupT	12.37:g.55641908_55641908dupT	ENSP00000342836:p.Val279fs						p.C279fs	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	925_926	+			279						Frame_Shift_Ins	INS	ENST00000343870.4	37	c.835_836insT	CCDS31816.1																																																																																				0.371	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			19	42						19	42	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877716	52877717	+	Intron	INS	-	-	T	rs376324069|rs77187934		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:52877716_52877717insT	ENST00000422689.2	+	3	283				ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Ins_p.I102fs	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGGCCCCATAAttttttttttt	0.475																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)tttfs		zinc finger protein 880																																				SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877716_52877717insT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+36->T	19.37:g.52877727_52877727dupT						ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron	p.F102fs			Q6PDB4	ZN880_HUMAN			3	324_325	+			0					B4DNA6	Frame_Shift_Ins	INS	ENST00000422689.2	37	c.304_305insT	CCDS46164.1																																																																																				0.475	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		4	9						4	9	---	---	---	---
NOL12	79159	broad.mit.edu	37	22	38082445	38082445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:38082445delC	ENST00000359114.4	+	1	116	c.46delC	c.(46-48)ccgfs	p.P16fs	NOL12_ENST00000493862.1_Intron	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	16						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CGACCGGCGGCCGAGGCTCGT	0.627																																						ENST00000359114.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(46-48)cgfs		nucleolar protein 12							35.0	35.0	35.0					22																	38082445		2203	4300	6503	SO:0001589	frameshift_variant	79159					nucleolus	rRNA binding	g.chr22:38082445delC	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.46delC	22.37:g.38082445delC	ENSP00000352021:p.Pro16fs					RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_Intron	p.P16fs	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			1	116	+	Melanoma(58;0.0574)		16						Frame_Shift_Del	DEL	ENST00000359114.4	37	c.46delC	CCDS13955.1																																																																																				0.627	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		2	4						2	4	---	---	---	---
