#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
PLEC	5339	broad.mit.edu	37	8	144992057	144992057	+	Missense_Mutation	SNP	C	C	T	rs369738267		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:144992057C>T	ENST00000322810.4	-	32	12512	c.12343G>A	c.(12343-12345)Gac>Aac	p.D4115N	PLEC_ENST00000436759.2_Missense_Mutation_p.D4005N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4001N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3978N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3978N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3964N|PLEC_ENST00000398774.2_Missense_Mutation_p.D3946N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3956N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3982N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4115	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGATGGGGTCGATGACGTAA	0.647																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12343-12345)Gac>Aac		plectin		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4322		0,0,2161	31.0	37.0	35.0		12013,11890,11866,12343,11836,11932,11944,11932	5.1	1.0	8		35	1,8487		0,1,4243	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	23,23,23,23,23,23,23,23	0,1,6404	TT,TC,CC		0.0118,0.0,0.0078	benign,benign,benign,benign,benign,benign,benign,benign	4005/4575,3964/4534,3956/4526,4115/4685,3946/4516,3978/4548,3982/4552,3978/4548	144992057	1,12809	2161	4244	6405	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992057C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12343G>A	8.37:g.144992057C>T	ENSP00000323856:p.Asp4115Asn					PLEC_ENST00000398774.2_Missense_Mutation_p.D3946N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4005N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3956N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3978N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3964N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3978N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3982N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4001N	p.D4115N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12512	-			4115			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12343G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812782	0.32053	0.0	1.18E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000004	D	0.91570	0.7337	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.92468	0.5983	10	0.87932	D	0	.	18.2755	0.90081	0.0:1.0:0.0:0.0	.	4005;3964;3956;4115;3946;3978;3982;3978	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	3978;3982;3978;3946;4115;3956;3964;4005;4001	ENSP00000344848:D3978N;ENSP00000350277:D3982N;ENSP00000346602:D3978N;ENSP00000381756:D3946N;ENSP00000323856:D4115N;ENSP00000347044:D3956N;ENSP00000348702:D3964N;ENSP00000388180:D4005N;ENSP00000434583:D4001N	ENSP00000323856:D4115N	D	-	1	0	PLEC	145064045	1.000000	0.71417	0.998000	0.56505	0.466000	0.32739	7.576000	0.82467	2.654000	0.90174	0.549000	0.68633	GAC		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	30	0	0	0	1	0	15	30				
SVIL	6840	broad.mit.edu	37	10	29762806	29762806	+	Silent	SNP	C	C	T	rs139597633		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:29762806C>T	ENST00000355867.4	-	30	6242	c.5490G>A	c.(5488-5490)gcG>gcA	p.A1830A	SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.A1404A|SVIL_ENST00000375398.2_Silent_p.A1830A|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.A744A|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1830					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTCATCAGCGCCGACGTGC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18656	0.0		0.0	False		,,,				2504	0.001					ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5488-5490)gcG>gcA		supervillin		C	,	2,4404	4.2+/-10.8	0,2,2201	57.0	50.0	53.0		4212,5490	-8.9	0.7	10	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	1404/1789,1830/2215	29762806	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29762806C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5490G>A	10.37:g.29762806C>T						PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000355867.4_Silent_p.A1830A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.A1404A|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.A744A	p.A1830A			O95425	SVIL_HUMAN			32	5939	-		Breast(68;0.103)	1830					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5490G>A	CCDS7164.1																																																																																				0.647	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			15	21	0	0	0	1	0	15	21				
PTGIS	5740	broad.mit.edu	37	20	48164408	48164408	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:48164408C>T	ENST00000244043.4	-	3	376	c.347G>A	c.(346-348)aGc>aAc	p.S116N	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	116					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	ATCACTGGGGCTGTAATGTGG	0.562																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(346-348)aGc>aAc		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						181.0	181.0	181.0					20																	48164408		2203	4300	6503	SO:0001583	missense	5740				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|prostaglandin-I synthase activity	g.chr20:48164408C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.347G>A	20.37:g.48164408C>T	ENSP00000244043:p.Ser116Asn					PTGIS_ENST00000478971.1_Intron	p.S116N	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	376	-			116					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.347G>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	1.909	-0.451230	0.04572	.	.	ENSG00000124212	ENST00000244043	T	0.68479	-0.33	5.01	-9.17	0.00691	.	0.850353	0.10700	N	0.644229	T	0.37705	0.1013	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	10	0.26408	T	0.33	-13.7281	16.8433	0.85973	0.0:0.2013:0.0:0.7987	.	116	Q16647	PTGIS_HUMAN	N	116	ENSP00000244043:S116N	ENSP00000244043:S116N	S	-	2	0	PTGIS	47597815	0.363000	0.24989	0.056000	0.19401	0.735000	0.41995	0.052000	0.14163	-2.134000	0.00812	0.455000	0.32223	AGC		0.562	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			101	151	0	0	0	1	0	101	151				
SLC39A14	23516	broad.mit.edu	37	8	22267520	22267520	+	Intron	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:22267520C>T	ENST00000381237.1	+	3	576				SLC39A14_ENST00000359741.5_Silent_p.L173L|SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Intron	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14						cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGGGAGTCCTCGTCCTGCCCT	0.532																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(517-519)ctC>ctT		solute carrier family 39 (zinc transporter), member 14							240.0	197.0	212.0					8																	22267520		2203	4300	6503	SO:0001627	intron_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22267520C>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.457+1511C>T	8.37:g.22267520C>T						SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Intron	p.L173L	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	4	694	+			173					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	ENST00000381237.1	37	c.519C>T	CCDS47823.1																																																																																				0.532	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		59	97	0	0	0	1	0	59	97				
CPVL	54504	broad.mit.edu	37	7	29135786	29135786	+	Silent	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:29135786C>T	ENST00000409850.1	-	8	982	c.336G>A	c.(334-336)ccG>ccA	p.P112P	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.P112P|CPVL_ENST00000396276.3_Silent_p.P112P			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	112						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGAACCTCCCGGCCCACCCT	0.463																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(334-336)ccG>ccA		carboxypeptidase, vitellogenic-like							144.0	135.0	138.0					7																	29135786		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29135786C>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.336G>A	7.37:g.29135786C>T						CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Silent_p.P112P|CPVL_ENST00000265394.5_Silent_p.P112P	p.P112P			Q9H3G5	CPVL_HUMAN			8	982	-			112					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.336G>A	CCDS5419.1																																																																																				0.463	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		67	114	0	0	0	1	0	67	114				
VPRBP	9730	broad.mit.edu	37	3	51457789	51457789	+	Missense_Mutation	SNP	T	T	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:51457789T>C	ENST00000335891.5	-	7	1297	c.1288A>G	c.(1288-1290)Act>Gct	p.T430A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	879	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GAGGCAGCAGTCATGGGCAGG	0.512																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1288-1290)Act>Gct		Vpr (HIV-1) binding protein							135.0	147.0	143.0					3																	51457789		2170	4267	6437	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457789T>C	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1288A>G	3.37:g.51457789T>C	ENSP00000338857:p.Thr430Ala						p.T430A			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1297	-			879					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.1288A>G		.	.	.	.	.	.	.	.	.	.	T	10.26	1.301436	0.23736	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.40476	1.03;1.03	6.07	6.07	0.98685	.	0.092054	0.64402	D	0.000001	T	0.30572	0.0769	N	0.19112	0.55	0.49687	D	0.999811	B	0.13145	0.007	B	0.12156	0.007	T	0.08764	-1.0706	10	0.20519	T	0.43	-19.7032	16.6288	0.85011	0.0:0.0:0.0:1.0	.	879	Q9Y4B6	VPRBP_HUMAN	A	450;430	ENSP00000393183:T450A;ENSP00000338857:T430A	ENSP00000338857:T430A	T	-	1	0	VPRBP	51432829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.185000	0.42584	2.326000	0.78906	0.533000	0.62120	ACT		0.512	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		8	77	0	0	0	1	0	8	77				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	112	0	0	0	1	0	5	112				
ZNF479	90827	broad.mit.edu	37	7	57194423	57194423	+	Silent	SNP	T	T	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:57194423T>C	ENST00000331162.4	-	3	312	c.42A>G	c.(40-42)ggA>ggG	p.G14G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	14					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATGTCAACAGTCCCTGGAAAA	0.398																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(40-42)ggA>ggG		zinc finger protein 479							44.0	44.0	44.0					7																	57194423		2091	4258	6349	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194423T>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.42A>G	7.37:g.57194423T>C							p.G14G	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	312	-			14						Silent	SNP	ENST00000331162.4	37	c.42A>G	CCDS43590.1																																																																																				0.398	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		36	53	0	0	0	1	0	36	53				
RHOBTB1	9886	broad.mit.edu	37	10	62631312	62631312	+	Missense_Mutation	SNP	T	T	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:62631312T>G	ENST00000337910.5	-	11	2356	c.2019A>C	c.(2017-2019)gaA>gaC	p.E673D	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E673D	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	673					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGCAATATCTTCCTTCTCTC	0.478																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2017-2019)gaA>gaC		Rho-related BTB domain containing 1							296.0	215.0	243.0					10																	62631312		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62631312T>G	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.2019A>C	10.37:g.62631312T>G	ENSP00000338671:p.Glu673Asp					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E673D|RHOBTB1_ENST00000490827.1_5'UTR	p.E673D	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			11	2356	-	Prostate(12;0.0112)		673						Missense_Mutation	SNP	ENST00000337910.5	37	c.2019A>C	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216163	0.79352	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.20738	2.05;2.05	5.24	2.93	0.34026	.	0.000000	0.64402	D	0.000001	T	0.44953	0.1318	M	0.83953	2.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.27938	-1.0059	10	0.51188	T	0.08	.	8.628	0.33901	0.0:0.1587:0.0:0.8413	.	673	O94844	RHBT1_HUMAN	D	673	ENSP00000350595:E673D;ENSP00000338671:E673D	ENSP00000338671:E673D	E	-	3	2	RHOBTB1	62301318	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	1.602000	0.36783	0.338000	0.23692	0.482000	0.46254	GAA		0.478	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			47	67	0	0	0	1	0	47	67				
ADAMTS19	171019	broad.mit.edu	37	5	129070740	129070740	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr5:129070740C>T	ENST00000274487.4	+	22	3555	c.3410C>T	c.(3409-3411)cCa>cTa	p.P1137L	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1137	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCATACAGGCCATGCCATCTT	0.393																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3409-3411)cCa>cTa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							117.0	120.0	119.0					5																	129070740		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129070740C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3410C>T	5.37:g.129070740C>T	ENSP00000274487:p.Pro1137Leu					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.P1137L	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	22	3555	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1137			TSP type-1 5.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3410C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746376	0.69418	.	.	ENSG00000145808	ENST00000274487	T	0.52526	0.66	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000009	T	0.53061	0.1773	N	0.20986	0.625	0.58432	D	0.999996	D	0.67145	0.996	D	0.65573	0.936	T	0.50110	-0.8866	9	.	.	.	.	17.9861	0.89156	0.0:1.0:0.0:0.0	.	1137	Q8TE59	ATS19_HUMAN	L	1137	ENSP00000274487:P1137L	.	P	+	2	0	ADAMTS19	129098639	0.912000	0.30974	1.000000	0.80357	0.962000	0.63368	1.875000	0.39578	2.661000	0.90470	0.585000	0.79938	CCA		0.393	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		29	60	0	0	0	1	0	29	60				
USP9X	8239	broad.mit.edu	37	X	41000616	41000616	+	Missense_Mutation	SNP	G	G	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:41000616G>T	ENST00000324545.8	+	9	1726	c.1093G>T	c.(1093-1095)Gta>Tta	p.V365L	USP9X_ENST00000378308.2_Missense_Mutation_p.V365L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	365					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GATATCTAGTGTATCATACTA	0.353																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1093-1095)Gta>Tta		ubiquitin specific peptidase 9, X-linked							90.0	83.0	86.0					X																	41000616		2155	4284	6439	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000616G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1093G>T	X.37:g.41000616G>T	ENSP00000316357:p.Val365Leu					USP9X_ENST00000378308.2_Missense_Mutation_p.V365L	p.V365L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			9	1726	+			365					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1093G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613188	0.87359	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.64991	-0.13;-0.13	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.983	T	0.80188	-0.1486	10	0.45353	T	0.12	.	18.992	0.92796	0.0:0.0:1.0:0.0	.	365;365	Q93008-1;Q93008	.;USP9X_HUMAN	L	365	ENSP00000367558:V365L;ENSP00000316357:V365L	ENSP00000316357:V365L	V	+	1	0	USP9X	40885560	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	9.476000	0.97823	2.433000	0.82419	0.600000	0.82982	GTA		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		16	8	1	0	4.7546e-09	1	4.98844e-09	16	8				
ZNF107	51427	broad.mit.edu	37	7	64168665	64168665	+	Missense_Mutation	SNP	G	G	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:64168665G>T	ENST00000395391.1	+	4	3358	c.1983G>T	c.(1981-1983)gaG>gaT	p.E661D	ZNF107_ENST00000344930.3_Missense_Mutation_p.E661D|ZNF107_ENST00000423627.1_Missense_Mutation_p.E661D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATACTGGAGAGAAACCTTACA	0.378																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1981-1983)gaG>gaT		zinc finger protein 107							29.0	33.0	32.0					7																	64168665		2177	4291	6468	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168665G>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1983G>T	7.37:g.64168665G>T	ENSP00000378789:p.Glu661Asp					ZNF107_ENST00000344930.3_Missense_Mutation_p.E661D|ZNF107_ENST00000423627.1_Missense_Mutation_p.E661D	p.E661D			Q9UII5	ZN107_HUMAN			4	3358	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	661						Missense_Mutation	SNP	ENST00000395391.1	37	c.1983G>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.583469	0.65992	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.26810	1.71;1.71;1.71	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.28556	0.865	0.23150	N	0.99822	D	0.56287	0.975	P	0.56563	0.801	T	0.11690	-1.0577	8	.	.	.	.	7.9559	0.30042	0.0:0.0:1.0:0.0	.	661	Q9UII5	ZN107_HUMAN	D	661	ENSP00000343443:E661D;ENSP00000400037:E661D;ENSP00000378789:E661D	.	E	+	3	2	ZNF107	63806100	0.179000	0.23135	0.769000	0.31535	0.970000	0.65996	-0.039000	0.12124	0.635000	0.30488	0.313000	0.20887	GAG		0.378	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		20	31	1	0	8.34094e-07	1	8.47333e-07	20	31				
TRAPPC9	83696	broad.mit.edu	37	8	141445299	141445299	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:141445299G>A	ENST00000438773.2	-	4	904	c.771C>T	c.(769-771)caC>caT	p.H257H	TRAPPC9_ENST00000389327.3_Silent_p.H257H|TRAPPC9_ENST00000389328.4_Silent_p.H355H	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	257					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACCAGGATAGTGATAGATGA	0.493																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1063-1065)caC>caT		trafficking protein particle complex 9							62.0	61.0	61.0					8																	141445299		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141445299G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.771C>T	8.37:g.141445299G>A						TRAPPC9_ENST00000438773.2_Silent_p.H257H|TRAPPC9_ENST00000389327.3_Silent_p.H257H	p.H355H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			4	1079	-			257					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1065C>T	CCDS55278.1																																																																																				0.493	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		17	35	0	0	0	1	0	17	35				
OR2L2	26246	broad.mit.edu	37	1	248202348	248202348	+	Missense_Mutation	SNP	G	G	A	rs138166879		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:248202348G>A	ENST00000366479.2	+	1	875	c.779G>A	c.(778-780)cGt>cAt	p.R260H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACCTATGTACGTCCAAGATCC	0.493																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(778-780)cGt>cAt		olfactory receptor, family 2, subfamily L, member 2		G	HIS/ARG,	1,4405		0,1,2202	149.0	135.0	139.0		779,	-0.3	0.0	1	dbSNP_134	139	1,8599		0,1,4299	no	missense,intron	OR2L2,OR2L13	NM_001004686.2,NM_175911.2	29,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,	260/313,	248202348	2,13004	2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202348G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.779G>A	1.37:g.248202348G>A	ENSP00000355435:p.Arg260His					OR2L13_ENST00000366478.2_Intron	p.R260H	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	875	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		260					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.779G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	7.027	0.559906	0.13436	2.27E-4	1.16E-4	ENSG00000203663	ENST00000366479	T	0.37752	1.18	1.9	-0.295	0.12828	GPCR, rhodopsin-like superfamily (1);	1.359230	0.05838	N	0.618748	T	0.15652	0.0377	N	0.02876	-0.465	0.09310	N	1	B	0.18741	0.03	B	0.20955	0.032	T	0.24728	-1.0152	10	0.27785	T	0.31	.	5.8101	0.18462	0.6147:0.0:0.3853:0.0	.	260	Q8NH16	OR2L2_HUMAN	H	260	ENSP00000355435:R260H	ENSP00000355435:R260H	R	+	2	0	OR2L2	246268971	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-0.108000	0.10857	0.035000	0.15519	0.194000	0.17425	CGT		0.493	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		48	61	0	0	0	1	0	48	61				
KANK2	25959	broad.mit.edu	37	19	11280805	11280805	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:11280805C>T	ENST00000586659.1	-	11	2645	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	KANK2_ENST00000589359.1_Missense_Mutation_p.M785I|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000432929.2_Missense_Mutation_p.M785I|KANK2_ENST00000355150.5_Missense_Mutation_p.M777I|KANK2_ENST00000589894.1_Missense_Mutation_p.M777I			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	777	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGGCGCACATGAGGGCCG	0.637																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2353-2355)atG>atA		KN motif and ankyrin repeat domains 2							82.0	76.0	78.0					19																	11280805		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11280805C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2331G>A	19.37:g.11280805C>T	ENSP00000465650:p.Met777Ile					KANK2_ENST00000586659.1_Missense_Mutation_p.M777I|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589894.1_Missense_Mutation_p.M777I|KANK2_ENST00000355150.5_Missense_Mutation_p.M777I|KANK2_ENST00000589359.1_Missense_Mutation_p.M785I	p.M785I	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			11	2715	-			777					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.2355G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328683	0.95733	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.53423	0.62;0.62	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	L	0.28694	0.88	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.81914	0.995;0.84	T	0.61407	-0.7069	10	0.59425	D	0.04	-40.5894	17.6954	0.88281	0.0:1.0:0.0:0.0	.	777;785	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	I	785;777	ENSP00000395650:M785I;ENSP00000347276:M777I	ENSP00000347276:M777I	M	-	3	0	KANK2	11141805	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.654000	0.83653	2.478000	0.83669	0.555000	0.69702	ATG		0.637	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		40	22	0	0	0	1	0	40	22				
EPHB1	2047	broad.mit.edu	37	3	134911542	134911542	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:134911542G>A	ENST00000398015.3	+	11	2377	c.2007G>A	c.(2005-2007)gcG>gcA	p.A669A	EPHB1_ENST00000493838.1_Silent_p.A230A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGAGTGAGGCGAGCATCATGG	0.547																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2005-2007)gcG>gcA		EPH receptor B1							104.0	106.0	105.0					3																	134911542		2201	4299	6500	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134911542G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2007G>A	3.37:g.134911542G>A						EPHB1_ENST00000493838.1_Silent_p.A230A	p.A669A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			11	2377	+			669			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2007G>A	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		24	27	0	0	0	1	0	24	27				
C8orf46	254778	broad.mit.edu	37	8	67428270	67428270	+	Missense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:67428270G>A	ENST00000305454.3	+	6	1024	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	195										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GAAGAAGTCTGAATATGTGGG	0.567																																						ENST00000305454.3																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6						c.(583-585)Gaa>Aaa		chromosome 8 open reading frame 46							37.0	35.0	36.0					8																	67428270		2203	4300	6503	SO:0001583	missense	254778							g.chr8:67428270G>A	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.583G>A	8.37:g.67428270G>A	ENSP00000302260:p.Glu195Lys					C8orf46_ENST00000522977.1_3'UTR	p.E195K	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		6	1024	+			195					B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	ENST00000305454.3	37	c.583G>A	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	G	33	5.226750	0.95173	.	.	ENSG00000169085	ENST00000305454	.	.	.	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000034	T	0.64227	0.2579	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.62358	-0.6871	8	.	.	.	-3.9517	16.3656	0.83319	0.0:0.0:1.0:0.0	.	195	Q8TAG6	CH046_HUMAN	K	195	.	.	E	+	1	0	C8orf46	67590824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.320000	0.72876	2.385000	0.81259	0.563000	0.77884	GAA		0.567	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		12	20	0	0	0	1	0	12	20				
KAAG1	353219	broad.mit.edu	37	6	24358006	24358006	+	Missense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr6:24358006G>A	ENST00000274766.1	+	1	876	c.139G>A	c.(139-141)Gct>Act	p.A47T	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	47					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						GCCTCAGCTCGCTGCTTCGCG	0.672																																						ENST00000274766.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(139-141)Gct>Act		kidney associated antigen 1							24.0	26.0	26.0					6																	24358006		2198	4292	6490	SO:0001583	missense	353219				immune response			g.chr6:24358006G>A	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.139G>A	6.37:g.24358006G>A	ENSP00000274766:p.Ala47Thr					DCDC2_ENST00000378454.3_5'UTR	p.A47T	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN			1	876	+			47						Missense_Mutation	SNP	ENST00000274766.1	37	c.139G>A	CCDS4551.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674784	0.47781	.	.	ENSG00000146049	ENST00000274766	.	.	.	4.93	1.93	0.25924	.	.	.	.	.	T	0.07593	0.0191	.	.	.	0.09310	N	1	P	0.46952	0.887	B	0.33846	0.171	T	0.13019	-1.0525	7	0.87932	D	0	.	6.0717	0.19893	0.1665:0.3271:0.5064:0.0	.	47	Q9UBP8	KAAG1_HUMAN	T	47	.	ENSP00000274766:A47T	A	+	1	0	KAAG1	24465985	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.311000	0.19380	0.464000	0.27142	0.603000	0.83216	GCT		0.672	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			3	28	0	0	0	1	0	3	28				
UBOX5	22888	broad.mit.edu	37	20	3095970	3095970	+	Missense_Mutation	SNP	C	C	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:3095970C>A	ENST00000217173.2	-	4	1869	c.1398G>T	c.(1396-1398)tgG>tgT	p.W466C	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGCCAGGCCTCCAGGAAGTGT	0.622											OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000217173.2																			0				endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						c.(1396-1398)tgG>tgT		U-box domain containing 5							88.0	59.0	69.0					20																	3095970		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3095970C>A	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1398G>T	20.37:g.3095970C>A	ENSP00000217173:p.Trp466Cys		OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.W466C	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN			4	1869	-			466						Missense_Mutation	SNP	ENST00000217173.2	37	c.1398G>T	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687332	0.29962	.	.	ENSG00000185019	ENST00000217173	T	0.30448	1.53	5.01	3.03	0.35002	.	0.266370	0.32287	U	0.006317	T	0.13628	0.0330	N	0.08118	0	0.80722	D	1	P;P	0.44877	0.845;0.681	B;B	0.36289	0.221;0.221	T	0.05767	-1.0865	10	0.37606	T	0.19	0.1718	10.4016	0.44233	0.0:0.7912:0.1348:0.074	.	466;466	Q53GQ5;O94941	.;RNF37_HUMAN	C	466	ENSP00000217173:W466C	ENSP00000217173:W466C	W	-	3	0	UBOX5	3043970	0.974000	0.33945	1.000000	0.80357	0.908000	0.53690	1.903000	0.39858	0.495000	0.27882	0.313000	0.20887	TGG		0.622	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		19	22	1	0	0.00152264	1	0.00152264	19	22				
KIF15	56992	broad.mit.edu	37	3	44881850	44881850	+	Missense_Mutation	SNP	A	A	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:44881850A>T	ENST00000326047.4	+	28	3471	c.3322A>T	c.(3322-3324)Aac>Tac	p.N1108Y	KIF15_ENST00000425755.1_Missense_Mutation_p.N743Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1108					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCCCAGCTAAACCAAAAGAA	0.388																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3322-3324)Aac>Tac		kinesin family member 15							82.0	79.0	80.0					3																	44881850		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44881850A>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3322A>T	3.37:g.44881850A>T	ENSP00000324020:p.Asn1108Tyr					KIF15_ENST00000425755.1_Missense_Mutation_p.N743Y	p.N1108Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	28	3471	+			1108					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3322A>T	CCDS33744.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.01|16.01	3.001599|3.001599	0.54254|0.54254	.|.	.|.	ENSG00000163808|ENSG00000163808	ENST00000396031|ENST00000326047;ENST00000425755	.|T;T	.|0.49432	.|0.78;0.78	5.87|5.87	3.36|3.36	0.38483|0.38483	.|.	.|0.470505	.|0.19513	.|N	.|0.112471	T|T	0.25457|0.25457	0.0619|0.0619	N|N	0.08118|0.08118	0|0	0.25963|0.25963	N|N	0.982604|0.982604	.|B	.|0.31054	.|0.306	.|B	.|0.29785	.|0.107	T|T	0.15122|0.15122	-1.0448|-1.0448	6|10	0.59425|0.66056	D|D	0.04|0.02	.|.	6.8794|6.8794	0.24164|0.24164	0.6367:0.2886:0.0747:0.0|0.6367:0.2886:0.0747:0.0	.|.	.|1108	.|Q9NS87	.|KIF15_HUMAN	I|Y	1106|1108;743	.|ENSP00000324020:N1108Y;ENSP00000389982:N743Y	ENSP00000379348:K1106I|ENSP00000324020:N1108Y	K|N	+|+	2|1	0|0	KIF15|KIF15	44856854|44856854	0.120000|0.120000	0.22244|0.22244	0.111000|0.111000	0.21465|0.21465	0.981000|0.981000	0.71138|0.71138	1.243000|1.243000	0.32767|0.32767	0.411000|0.411000	0.25702|0.25702	0.460000|0.460000	0.39030|0.39030	AAA|AAC		0.388	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			23	27	0	0	0	1	0	23	27				
USP43	124739	broad.mit.edu	37	17	9578275	9578275	+	Silent	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:9578275C>T	ENST00000285199.7	+	4	904	c.808C>T	c.(808-810)Cta>Tta	p.L270L	USP43_ENST00000570475.1_Silent_p.L270L|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	270	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTGTGTGTCCCTACCTATCCC	0.532																																						ENST00000285199.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(808-810)Cta>Tta		ubiquitin specific peptidase 43							298.0	289.0	292.0					17																	9578275		2078	4222	6300	SO:0001819	synonymous_variant	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9578275C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.808C>T	17.37:g.9578275C>T						USP43_ENST00000570475.1_Silent_p.L270L|USP43_ENST00000570827.2_5'UTR|USP43_ENST00000575346.1_3'UTR	p.L270L	NM_153210.4	NP_694942.3	Q70EL4	UBP43_HUMAN			4	904	+			270					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	c.808C>T	CCDS45610.1																																																																																				0.532	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		137	40	0	0	0	1	0	137	40				
IGHG1	3500	broad.mit.edu	37	14	106208402	106208402	+	RNA	SNP	C	C	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr14:106208402C>A	ENST00000390548.2	-	0	497							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CATTATGCACCTCCACGCCGT	0.602																																						ENST00000390548.2																			0																				170.0	162.0	165.0					14																	106208402		2179	4253	6432			3500							g.chr14:106208402C>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208402C>A														0	497	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.602	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		102	323	1	0	4.04957e-52	1	4.46849e-52	102	323				
FBLN2	2199	broad.mit.edu	37	3	13672897	13672897	+	Missense_Mutation	SNP	T	T	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:13672897T>C	ENST00000295760.7	+	15	3082	c.3013T>C	c.(3013-3015)Tac>Cac	p.Y1005H	FBLN2_ENST00000492059.1_Missense_Mutation_p.Y1052H|FBLN2_ENST00000404922.3_Missense_Mutation_p.Y1052H|FBLN2_ENST00000535798.1_Missense_Mutation_p.Y1031H	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1005	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCAGGGAGCTACCAGTGTGC	0.642																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3154-3156)Tac>Cac		fibulin 2							29.0	33.0	32.0					3																	13672897		2163	4252	6415	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672897T>C	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3013T>C	3.37:g.13672897T>C	ENSP00000295760:p.Tyr1005His					FBLN2_ENST00000295760.7_Missense_Mutation_p.Y1005H|FBLN2_ENST00000535798.1_Missense_Mutation_p.Y1031H|FBLN2_ENST00000492059.1_Missense_Mutation_p.Y1052H	p.Y1052H	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		16	3273	+			1033			EGF-like 10; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3154T>C	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945982	0.92593	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.88509	-2.39;-2.39;-2.38;-2.39	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95148	0.8270	10	0.87932	D	0	.	15.4123	0.74937	0.0:0.0:0.0:1.0	.	1005;1052;1031	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	H	1031;1052;1005;1052	ENSP00000445705:Y1031H;ENSP00000384169:Y1052H;ENSP00000295760:Y1005H;ENSP00000420042:Y1052H	ENSP00000295760:Y1005H	Y	+	1	0	FBLN2	13647898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.262000	0.72514	2.043000	0.60533	0.533000	0.62120	TAC		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		6	10	0	0	0	1	0	6	10				
RHPN2	85415	broad.mit.edu	37	19	33512485	33512485	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:33512485C>T	ENST00000254260.3	-	4	417	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	RHPN2_ENST00000400226.4_Intron	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	128	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					ACCTTGAGGACGACTGCAAAG	0.478																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(382-384)Gtc>Atc		rhophilin, Rho GTPase binding protein 2							116.0	86.0	96.0					19																	33512485		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33512485C>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.382G>A	19.37:g.33512485C>T	ENSP00000254260:p.Val128Ile					RHPN2_ENST00000400226.4_Intron	p.V128I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			4	417	-	Esophageal squamous(110;0.137)		128			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.382G>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	9.999	1.232879	0.22626	.	.	ENSG00000131941	ENST00000254260	T	0.16897	2.31	4.02	2.92	0.33932	BRO1 domain (3);	1.083010	0.07148	N	0.848514	T	0.18425	0.0442	L	0.42245	1.32	0.43761	D	0.996272	B	0.14805	0.011	B	0.12156	0.007	T	0.07083	-1.0791	10	0.46703	T	0.11	.	12.2484	0.54585	0.0:0.7449:0.2551:0.0	.	128	Q8IUC4	RHPN2_HUMAN	I	128	ENSP00000254260:V128I	ENSP00000254260:V128I	V	-	1	0	RHPN2	38204325	0.849000	0.29639	0.650000	0.29550	0.812000	0.45895	1.307000	0.33516	2.081000	0.62600	0.557000	0.71058	GTC		0.478	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		26	35	0	0	0	1	0	26	35				
UBE2O	63893	broad.mit.edu	37	17	74387543	74387543	+	Silent	SNP	G	G	A	rs150209609		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:74387543G>A	ENST00000319380.7	-	18	3424	c.3360C>T	c.(3358-3360)ccC>ccT	p.P1120P		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1120					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAAAGACCTCGGGGGGCCGCC	0.602																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(3358-3360)ccC>ccT		ubiquitin-conjugating enzyme E2O							61.0	62.0	61.0					17																	74387543		2203	4299	6502	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74387543G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3360C>T	17.37:g.74387543G>A							p.P1120P	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			18	3424	-			1120					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.3360C>T	CCDS32742.1																																																																																				0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		56	13	0	0	0	1	0	56	13				
ISOC2	79763	broad.mit.edu	37	19	55966722	55966722	+	Intron	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:55966722C>T	ENST00000425675.2	-	4	409				ISOC2_ENST00000438389.2_Intron|ISOC2_ENST00000085068.3_Silent_p.L124L			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2						protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGGTCAGGGCCAACCCCGGAT	0.617																																						ENST00000085068.3																			0				endometrium(1)|lung(4)|ovary(1)|stomach(1)	7						c.(370-372)ttG>ttA		isochorismatase domain containing 2							37.0	42.0	40.0					19																	55966722		2202	4300	6502	SO:0001627	intron_variant	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55966722C>T	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.349-25G>A	19.37:g.55966722C>T						ISOC2_ENST00000438389.2_Intron|ISOC2_ENST00000425675.2_Intron	p.L124L	NM_001136201.1|NM_024710.2	NP_001129673.1|NP_078986.1	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	4	508	-	Breast(117;0.155)		116					Q6ZN91|Q9H5G0	Silent	SNP	ENST00000425675.2	37	c.372G>A	CCDS46195.1																																																																																				0.617	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		13	23	0	0	0	1	0	13	23				
MMP14	4323	broad.mit.edu	37	14	23311835	23311835	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr14:23311835G>A	ENST00000311852.6	+	4	858	c.597G>A	c.(595-597)ctG>ctA	p.L199L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	199					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	GCGGCTTCCTGGCCCATGCCT	0.582																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(595-597)ctG>ctA		matrix metallopeptidase 14 (membrane-inserted)							105.0	94.0	98.0					14																	23311835		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311835G>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.597G>A	14.37:g.23311835G>A						MMP14_ENST00000548162.1_3'UTR	p.L199L	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	858	+	all_cancers(95;9.47e-05)		199					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.597G>A	CCDS9577.1																																																																																				0.582	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		4	92	0	0	0	1	0	4	92				
ATP13A4	84239	broad.mit.edu	37	3	193125105	193125105	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:193125105G>A	ENST00000342695.4	-	29	3697	c.3375C>T	c.(3373-3375)gcC>gcT	p.A1125A	ATP13A4_ENST00000400270.2_Silent_p.A141A|ATP13A4_ENST00000392443.3_Silent_p.A1106A|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1125						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A1125A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTTACCTCGGCCACAAGGG	0.522																																						ENST00000342695.4																			1	Substitution - coding silent(1)	p.A1125A(1)	ovary(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3373-3375)gcC>gcT		ATPase type 13A4							139.0	103.0	115.0					3																	193125105		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193125105G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3375C>T	3.37:g.193125105G>A						ATP13A4_ENST00000400270.2_Silent_p.A141A|ATP13A4_ENST00000392443.3_Silent_p.A1106A|ATP13A4_ENST00000482964.1_5'UTR	p.A1125A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	29	3697	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1125					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.3375C>T	CCDS3304.2																																																																																				0.522	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		16	22	0	0	0	1	0	16	22				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	25	0	0	0	1	0	3	25				
PDK3	5165	broad.mit.edu	37	X	24512955	24512955	+	Missense_Mutation	SNP	C	C	G	rs373610926		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:24512955C>G	ENST00000379162.4	+	2	438	c.203C>G	c.(202-204)cCg>cGg	p.P68R	PDK3_ENST00000441463.2_Missense_Mutation_p.P68R|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	68					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.P68R(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATCTTCTGCCGGATAATTTA	0.408																																						ENST00000441463.2																			2	Substitution - Missense(2)	p.P68R(2)	endometrium(2)	NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(202-204)cCg>cGg		pyruvate dehydrogenase kinase, isozyme 3							85.0	73.0	77.0					X																	24512955		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24512955C>G	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.203C>G	X.37:g.24512955C>G	ENSP00000368460:p.Pro68Arg					PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.P68R	p.P68R	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			2	203	+			68					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.203C>G	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957897	0.92726	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.68331	0.31;-0.32	6.16	6.16	0.99307	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90435	0.4427	10	0.87932	D	0	.	19.7181	0.96131	0.0:1.0:0.0:0.0	.	68;68	B4DXG6;Q15120	.;PDK3_HUMAN	R	68	ENSP00000368460:P68R;ENSP00000387536:P68R	ENSP00000368460:P68R	P	+	2	0	PDK3	24422876	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.750000	0.85110	2.614000	0.88457	0.594000	0.82650	CCG		0.408	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		33	7	0	0	0	1	0	33	7				
CPZ	8532	broad.mit.edu	37	4	8620216	8620216	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr4:8620216C>T	ENST00000360986.4	+	10	1738	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CPZ_ENST00000382480.2_Missense_Mutation_p.R385W|CPZ_ENST00000315782.6_Missense_Mutation_p.R511W|CPZ_ENST00000429646.2_Missense_Mutation_p.R130W	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	522					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAAACGCCCGGATCTCAGT	0.592																																						ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(388-390)Cgg>Tgg		carboxypeptidase Z							113.0	99.0	104.0					4																	8620216		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8620216C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1564C>T	4.37:g.8620216C>T	ENSP00000354255:p.Arg522Trp					CPZ_ENST00000382480.2_Missense_Mutation_p.R385W|CPZ_ENST00000315782.6_Missense_Mutation_p.R511W|CPZ_ENST00000360986.4_Missense_Mutation_p.R522W	p.R130W			Q66K79	CBPZ_HUMAN			8	3181	+			522		Q -> L (in dbSNP:rs35993494).	FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.388C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781551	0.49891	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.07	4.21	0.49690	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.566046	0.17299	N	0.179342	T	0.65037	0.2653	M	0.79258	2.445	0.38060	D	0.936041	D;D	0.89917	1.0;1.0	D;D	0.75484	0.985;0.986	T	0.70923	-0.4740	10	0.66056	D	0.02	-42.1296	13.8522	0.63504	0.277:0.723:0.0:0.0	.	511;522	Q66K79-2;Q66K79	.;CBPZ_HUMAN	W	522;385;511;130	ENSP00000354255:R522W;ENSP00000371920:R385W;ENSP00000315074:R511W;ENSP00000403981:R130W	ENSP00000315074:R511W	R	+	1	2	CPZ	8671116	0.016000	0.18221	0.889000	0.34880	0.187000	0.23431	0.424000	0.21330	1.071000	0.40834	0.561000	0.74099	CGG		0.592	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		21	33	0	0	0	1	0	21	33				
SCN5A	6331	broad.mit.edu	37	3	38648250	38648250	+	Silent	SNP	G	G	A	rs587781160		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:38648250G>A	ENST00000333535.4	-	9	1199	c.1050C>T	c.(1048-1050)caC>caT	p.H350H	SCN5A_ENST00000450102.2_Silent_p.H350H|SCN5A_ENST00000413689.1_Silent_p.H350H|SCN5A_ENST00000423572.2_Silent_p.H350H|SCN5A_ENST00000455624.2_Silent_p.H350H|SCN5A_ENST00000451551.2_Silent_p.H350H|SCN5A_ENST00000443581.1_Silent_p.H350H|SCN5A_ENST00000425664.1_Silent_p.H350H|SCN5A_ENST00000449557.2_Silent_p.H350H|SCN5A_ENST00000414099.2_Silent_p.H350H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	350					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGTAGCCGTGGTCGGGGT	0.602																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1048-1050)caC>caT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						91.0	110.0	104.0					3																	38648250		2058	4216	6274	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38648250G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1050C>T	3.37:g.38648250G>A						SCN5A_ENST00000425664.1_Silent_p.H350H|SCN5A_ENST00000451551.2_Silent_p.H350H|SCN5A_ENST00000423572.2_Silent_p.H350H|SCN5A_ENST00000414099.2_Silent_p.H350H|SCN5A_ENST00000455624.2_Silent_p.H350H|SCN5A_ENST00000333535.4_Silent_p.H350H|SCN5A_ENST00000450102.2_Silent_p.H350H|SCN5A_ENST00000449557.2_Silent_p.H350H|SCN5A_ENST00000443581.1_Silent_p.H350H	p.H350H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	9	1243	-	Medulloblastoma(35;0.163)		350					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.1050C>T	CCDS46796.1																																																																																				0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		30	45	0	0	0	1	0	30	45				
MARCH1	55016	broad.mit.edu	37	4	164507013	164507013	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr4:164507013C>T	ENST00000503008.1	-	6	1287	c.311G>A	c.(310-312)cGc>cAc	p.R104H	MARCH1_ENST00000274056.7_Missense_Mutation_p.R104H|MARCH1_ENST00000339875.5_Missense_Mutation_p.R87H|MARCH1_ENST00000514618.1_Missense_Mutation_p.R360H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	104					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTGGACAAAGCGCAGTGTCCC	0.527																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(310-312)cGc>cAc		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							98.0	89.0	92.0					4																	164507013		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164507013C>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.311G>A	4.37:g.164507013C>T	ENSP00000427223:p.Arg104His					MARCH1_ENST00000514618.1_Missense_Mutation_p.R360H|MARCH1_ENST00000274056.7_Missense_Mutation_p.R104H|MARCH1_ENST00000339875.5_Missense_Mutation_p.R87H	p.R104H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			6	1287	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	104					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.311G>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446990	0.63178	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.64402	D	0.000004	T	0.42765	0.1217	L	0.59912	1.85	0.58432	D	0.999997	B;B	0.28419	0.126;0.211	B;B	0.21708	0.036;0.035	T	0.30297	-0.9983	10	0.39692	T	0.17	-37.2685	19.259	0.93959	0.0:1.0:0.0:0.0	.	104;87	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	H	104;104;360;87;104	ENSP00000274056:R104H;ENSP00000427223:R104H;ENSP00000421322:R360H;ENSP00000345676:R87H;ENSP00000426731:R104H	ENSP00000274056:R104H	R	-	2	0	MARCH1	164726463	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.628000	0.89032	0.585000	0.79938	CGC		0.527	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		31	38	0	0	0	1	0	31	38				
SCN8A	6334	broad.mit.edu	37	12	52115352	52115352	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr12:52115352C>T	ENST00000354534.6	+	12	1836	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	SCN8A_ENST00000545061.1_Missense_Mutation_p.S553L|SCN8A_ENST00000550891.1_Missense_Mutation_p.S553L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	553					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATCCCAGGCTCGCCCTTCCTC	0.592																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1657-1659)tCg>tTg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						12.0	14.0	13.0					12																	52115352		1945	4140	6085	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52115352C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1658C>T	12.37:g.52115352C>T	ENSP00000346534:p.Ser553Leu					SCN8A_ENST00000545061.1_Missense_Mutation_p.S553L|SCN8A_ENST00000550891.1_Missense_Mutation_p.S553L	p.S553L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	12	1836	+			553					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1658C>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688800	0.68271	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22	3.83	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	M	0.75264	2.295	0.58432	D	0.999998	D;D;P;D	0.89917	0.997;0.999;0.953;1.0	P;D;B;D	0.77557	0.859;0.99;0.341;0.979	D	0.95423	0.8509	10	0.37606	T	0.19	.	16.3045	0.82842	0.0:1.0:0.0:0.0	.	553;553;553;553	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	L	553;553;553;553;466;351	ENSP00000448415:S553L;ENSP00000346534:S553L;ENSP00000440360:S553L;ENSP00000347255:S553L;ENSP00000447567:S351L	ENSP00000346534:S553L	S	+	2	0	SCN8A	50401619	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	7.264000	0.78432	2.136000	0.66102	0.467000	0.42956	TCG		0.592	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		3	5	0	0	0	1	0	3	5				
PMS2	5395	broad.mit.edu	37	7	6048644	6048644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:6048644G>A	ENST00000265849.7	-	1	112	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PMS2_ENST00000406569.3_Nonsense_Mutation_p.R3*|AIMP2_ENST00000400479.2_5'Flank|PMS2_ENST00000382321.4_Nonsense_Mutation_p.R3*|AIMP2_ENST00000223029.3_5'Flank|PMS2_ENST00000469652.1_5'UTR|AIMP2_ENST00000395236.2_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	3					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCTCAGCTCGCTCCATGGAT	0.647			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(7-9)Cga>Tga	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							43.0	49.0	47.0					7																	6048644		2203	4300	6503	SO:0001587	stop_gained	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6048644G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.7C>T	7.37:g.6048644G>A	ENSP00000265849:p.Arg3*					PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Nonsense_Mutation_p.R3*|PMS2_ENST00000382321.4_Nonsense_Mutation_p.R3*	p.R3*	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	1	112	-		Ovarian(82;0.0694)	3					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Nonsense_Mutation	SNP	ENST00000265849.7	37	c.7C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790210	0.90367	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	.	.	.	4.27	2.42	0.29668	.	2.991920	0.01361	N	0.012232	.	.	.	.	.	.	0.45594	D	0.998531	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	10.7276	0.46077	0.0:0.3763:0.6237:0.0	.	.	.	.	X	3	.	ENSP00000265849:R3X	R	-	1	2	PMS2	6015170	0.419000	0.25449	0.477000	0.27303	0.173000	0.22820	1.451000	0.35145	0.705000	0.31890	0.650000	0.86243	CGA		0.647	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		41	49	0	0	0	1	0	41	49				
LONRF2	164832	broad.mit.edu	37	2	100906852	100906852	+	Missense_Mutation	SNP	A	A	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:100906852A>C	ENST00000393437.3	-	10	2427	c.1788T>G	c.(1786-1788)atT>atG	p.I596M	LONRF2_ENST00000409647.1_Missense_Mutation_p.I353M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	596	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCACGTCCTTAATCTCCAGCA	0.468																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1786-1788)atT>atG		LON peptidase N-terminal domain and ring finger 2							127.0	115.0	119.0					2																	100906852		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100906852A>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1788T>G	2.37:g.100906852A>C	ENSP00000377086:p.Ile596Met					LONRF2_ENST00000409647.1_Missense_Mutation_p.I353M	p.I596M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			10	2427	-			596			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1788T>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004612	0.54254	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.67345	-0.26;-0.26	4.89	-6.11	0.02131	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.142496	0.48286	D	0.000191	T	0.76807	0.4039	M	0.88031	2.925	0.37969	D	0.933211	D	0.89917	1.0	D	0.85130	0.997	T	0.75741	-0.3211	10	0.87932	D	0	-5.8734	5.6243	0.17475	0.2253:0.1167:0.537:0.121	.	596	Q1L5Z9	LONF2_HUMAN	M	596;353	ENSP00000377086:I596M;ENSP00000386823:I353M	ENSP00000377086:I596M	I	-	3	3	LONRF2	100273284	0.630000	0.27155	0.116000	0.21606	0.488000	0.33401	-0.382000	0.07408	-1.498000	0.01824	-0.313000	0.08912	ATT		0.468	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		38	62	0	0	0	1	0	38	62				
ANKRD35	148741	broad.mit.edu	37	1	145561861	145561861	+	Missense_Mutation	SNP	G	G	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:145561861G>T	ENST00000355594.4	+	10	1636	c.1549G>T	c.(1549-1551)Gtc>Ttc	p.V517F		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	517										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCAAGACCGGTCATGGAGGG	0.632																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1549-1551)Gtc>Ttc		ankyrin repeat domain 35							82.0	98.0	93.0					1																	145561861		2202	4297	6499	SO:0001583	missense	148741							g.chr1:145561861G>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1549G>T	1.37:g.145561861G>T	ENSP00000347802:p.Val517Phe						p.V517F	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1636	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		517					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1549G>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	7.885	0.731033	0.15507	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.70749	-0.51	5.24	-1.68	0.08212	.	0.691353	0.12537	N	0.460266	T	0.44582	0.1300	M	0.68317	2.08	0.09310	N	1	P	0.34780	0.468	B	0.31191	0.125	T	0.39272	-0.9622	10	0.49607	T	0.09	-2.0885	9.2131	0.37331	0.574:0.0:0.426:0.0	.	517	Q8N283	ANR35_HUMAN	F	426;517	ENSP00000347802:V517F	ENSP00000347802:V517F	V	+	1	0	ANKRD35	144273218	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.197000	0.09518	-0.508000	0.06540	-0.768000	0.03414	GTC		0.632	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		62	116	1	0	1.02487e-32	1	1.11172e-32	62	116				
CCDC51	79714	broad.mit.edu	37	3	48474071	48474071	+	Missense_Mutation	SNP	T	T	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:48474071T>A	ENST00000395694.2	-	4	1068	c.983A>T	c.(982-984)gAa>gTa	p.E328V	CCDC51_ENST00000442740.1_Missense_Mutation_p.E219V|CCDC51_ENST00000447018.1_Missense_Mutation_p.E219V|CCDC51_ENST00000395696.1_Missense_Mutation_p.E328V|PLXNB1_ENST00000296440.6_5'Flank|CCDC51_ENST00000412398.2_Missense_Mutation_p.E219V|PLXNB1_ENST00000448774.2_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	328						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACAAGTCTTTTCTAGGCCATC	0.517																																						ENST00000395694.2																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(982-984)gAa>gTa		coiled-coil domain containing 51							56.0	60.0	59.0					3																	48474071		1942	4145	6087	SO:0001583	missense	79714					integral to membrane		g.chr3:48474071T>A	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.983A>T	3.37:g.48474071T>A	ENSP00000379047:p.Glu328Val					CCDC51_ENST00000412398.2_Missense_Mutation_p.E219V|CCDC51_ENST00000447018.1_Missense_Mutation_p.E219V|CCDC51_ENST00000442740.1_Missense_Mutation_p.E219V|CCDC51_ENST00000395696.1_Missense_Mutation_p.E328V	p.E328V	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1068	-			328					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.983A>T	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248640	0.59103	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.50001	0.78;0.76;0.78;0.76;0.78	5.93	5.93	0.95920	.	0.415702	0.29328	N	0.012473	T	0.55273	0.1910	M	0.64997	1.995	0.42593	D	0.993258	P	0.49559	0.925	P	0.48270	0.572	T	0.60796	-0.7192	10	0.72032	D	0.01	-17.0803	15.5682	0.76309	0.0:0.0:0.0:1.0	.	328	Q96ER9	CCD51_HUMAN	V	219;328;219;328;219	ENSP00000412300:E219V;ENSP00000379047:E328V;ENSP00000401194:E219V;ENSP00000379049:E328V;ENSP00000392898:E219V	ENSP00000379047:E328V	E	-	2	0	CCDC51	48449075	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.662000	0.61525	2.265000	0.75225	0.533000	0.62120	GAA		0.517	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		30	35	0	0	0	1	0	30	35				
STK38L	23012	broad.mit.edu	37	12	27470897	27470897	+	Missense_Mutation	SNP	C	C	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr12:27470897C>G	ENST00000389032.3	+	11	1193	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	STK38L_ENST00000539577.1_Missense_Mutation_p.L249V	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GAAAGAAACTCTGGTATTTCC	0.363																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(1024-1026)Ctg>Gtg		serine/threonine kinase 38 like							63.0	64.0	63.0					12																	27470897		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27470897C>G	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1024C>G	12.37:g.27470897C>G	ENSP00000373684:p.Leu342Val					STK38L_ENST00000539577.1_Missense_Mutation_p.L249V	p.L342V	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			11	1193	+	Colorectal(261;0.0847)		342			Protein kinase.			Missense_Mutation	SNP	ENST00000389032.3	37	c.1024C>G	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245092	0.59103	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.38887	3.06;1.11	4.65	2.78	0.32641	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.50103	0.1596	L	0.41124	1.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48456	-0.9034	10	0.72032	D	0.01	.	7.581	0.27965	0.0:0.6344:0.0:0.3656	.	249;342	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	V	342;249	ENSP00000373684:L342V;ENSP00000446386:L249V	ENSP00000373684:L342V	L	+	1	2	STK38L	27362164	0.939000	0.31865	0.957000	0.39632	0.973000	0.67179	1.998000	0.40796	0.845000	0.35118	-0.262000	0.10625	CTG		0.363	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		35	49	0	0	0	1	0	35	49				
TRPM3	80036	broad.mit.edu	37	9	73213435	73213435	+	Missense_Mutation	SNP	A	A	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr9:73213435A>G	ENST00000377111.2	-	20	3155	c.2912T>C	c.(2911-2913)gTc>gCc	p.V971A	TRPM3_ENST00000377110.3_Missense_Mutation_p.V971A|TRPM3_ENST00000377106.1_Missense_Mutation_p.V843A|TRPM3_ENST00000377105.1_Missense_Mutation_p.V830A|TRPM3_ENST00000360823.2_Missense_Mutation_p.V833A|TRPM3_ENST00000396280.5_Missense_Mutation_p.V820A|TRPM3_ENST00000408909.2_Missense_Mutation_p.V830A|TRPM3_ENST00000358082.3_Missense_Mutation_p.V833A|TRPM3_ENST00000396292.4_Missense_Mutation_p.V843A|TRPM3_ENST00000357533.2_Missense_Mutation_p.V975A|TRPM3_ENST00000396285.1_Missense_Mutation_p.V818A|TRPM3_ENST00000423814.3_Missense_Mutation_p.V998A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	996					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAGTAGATGACCCTCCCGTC	0.483																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2911-2913)gTc>gCc		transient receptor potential cation channel, subfamily M, member 3							139.0	126.0	130.0					9																	73213435		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73213435A>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2912T>C	9.37:g.73213435A>G	ENSP00000366315:p.Val971Ala					TRPM3_ENST00000360823.2_Missense_Mutation_p.V833A|TRPM3_ENST00000396292.4_Missense_Mutation_p.V843A|TRPM3_ENST00000423814.3_Missense_Mutation_p.V998A|TRPM3_ENST00000377105.1_Missense_Mutation_p.V830A|TRPM3_ENST00000357533.2_Missense_Mutation_p.V975A|TRPM3_ENST00000408909.2_Missense_Mutation_p.V830A|TRPM3_ENST00000396280.5_Missense_Mutation_p.V820A|TRPM3_ENST00000358082.3_Missense_Mutation_p.V833A|TRPM3_ENST00000377111.2_Missense_Mutation_p.V971A|TRPM3_ENST00000396285.1_Missense_Mutation_p.V818A|TRPM3_ENST00000377106.1_Missense_Mutation_p.V843A	p.V971A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			20	3155	-			996					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2912T>C		.	.	.	.	.	.	.	.	.	.	A	19.42	3.823797	0.71143	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000001	D	0.87099	0.6093	M	0.74467	2.265	0.50039	D	0.999842	D;B;D;P;B;B;P;B	0.71674	0.968;0.107;0.998;0.616;0.004;0.115;0.849;0.008	P;B;D;P;B;B;P;B	0.81914	0.888;0.168;0.995;0.549;0.039;0.223;0.493;0.023	D	0.88505	0.3085	10	0.62326	D	0.03	-22.394	14.754	0.69549	1.0:0.0:0.0:0.0	.	971;971;961;975;833;830;943;818	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	A	971;971;843;833;830;975;830;818;843;833;998	ENSP00000366315:V971A;ENSP00000366314:V971A;ENSP00000366310:V843A;ENSP00000354066:V833A;ENSP00000366309:V830A;ENSP00000350140:V975A;ENSP00000386127:V830A;ENSP00000379581:V818A;ENSP00000379587:V843A;ENSP00000350791:V833A;ENSP00000389542:V998A	ENSP00000350140:V975A	V	-	2	0	TRPM3	72403255	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.329000	0.96413	1.947000	0.56498	0.467000	0.42956	GTC		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		61	14	0	0	0	1	0	61	14				
ADCY1	107	broad.mit.edu	37	7	45725619	45725619	+	Missense_Mutation	SNP	C	C	T	rs372552814		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:45725619C>T	ENST00000297323.7	+	13	2154	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	711					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTGGTCCTTTCGTCTGGGGGC	0.657																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2131-2133)tCg>tTg		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	C	LEU/SER	0,4406		0,0,2203	54.0	42.0	46.0		2132	2.8	0.0	7		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY1	NM_021116.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	711/1120	45725619	1,13005	2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45725619C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2132C>T	7.37:g.45725619C>T	ENSP00000297323:p.Ser711Leu						p.S711L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			13	2154	+			711					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2132C>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295967	0.23650	0.0	1.16E-4	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.48836	0.8	3.8	2.85	0.33270	.	0.709477	0.13587	N	0.376906	T	0.36771	0.0979	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.22417	-1.0217	10	0.33940	T	0.23	.	7.4194	0.27063	0.0:0.8506:0.0:0.1494	.	711	Q08828	ADCY1_HUMAN	L	711	ENSP00000297323:S711L	ENSP00000297323:S711L	S	+	2	0	ADCY1	45692144	0.116000	0.22171	0.014000	0.15608	0.677000	0.39632	1.785000	0.38684	0.719000	0.32188	0.462000	0.41574	TCG		0.657	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		13	25	0	0	0	1	0	13	25				
TRIOBP	11078	broad.mit.edu	37	22	38111796	38111796	+	Missense_Mutation	SNP	G	G	T	rs368119524		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr22:38111796G>T	ENST00000406386.3	+	6	738	c.483G>T	c.(481-483)gaG>gaT	p.E161D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	161					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGGCAGGAGGAGGAGGCCC	0.592																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(481-483)gaG>gaT		TRIO and F-actin binding protein							23.0	29.0	27.0					22																	38111796		1910	4113	6023	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38111796G>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.483G>T	22.37:g.38111796G>T	ENSP00000384312:p.Glu161Asp					RP1-37E16.12_ENST00000455236.1_RNA	p.E161D	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			6	738	+	Melanoma(58;0.0574)		161					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.483G>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	13.71	2.317365	0.40996	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19938	2.11	4.66	1.15	0.20763	.	.	.	.	.	T	0.13798	0.0334	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.36092	0.217	T	0.33189	-0.9878	9	0.33141	T	0.24	.	4.7801	0.13197	0.1052:0.0:0.4851:0.4096	.	161	Q9H2D6	TARA_HUMAN	D	161	ENSP00000384312:E161D	ENSP00000384312:E161D	E	+	3	2	TRIOBP	36441742	0.117000	0.22190	0.006000	0.13384	0.415000	0.31203	0.666000	0.25097	0.579000	0.29504	0.555000	0.69702	GAG		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			20	16	1	0	3.62473e-10	1	3.86638e-10	20	16				
ZNF197	10168	broad.mit.edu	37	3	44683476	44683476	+	Missense_Mutation	SNP	A	A	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:44683476A>G	ENST00000396058.1	+	5	1021	c.854A>G	c.(853-855)aAa>aGa	p.K285R	ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K285R			O14709	ZN197_HUMAN	zinc finger protein 197	285	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAACATCAAAAAGACTTCAA	0.428																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(853-855)aAa>aGa		zinc finger protein 197							56.0	52.0	53.0					3																	44683476		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44683476A>G	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.854A>G	3.37:g.44683476A>G	ENSP00000379370:p.Lys285Arg					ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K285R|RP11-944L7.4_ENST00000457331.1_RNA	p.K285R			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	1021	+			285			KRAB.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.854A>G	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	7.049	0.564071	0.13498	.	.	ENSG00000186448	ENST00000536299;ENST00000344387;ENST00000396058	T;T	0.06528	3.29;3.29	4.27	0.525	0.17072	Krueppel-associated box (1);	0.211849	0.23662	N	0.045814	T	0.02494	0.0076	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45991	-0.9223	10	0.23302	T	0.38	.	6.5616	0.22489	0.584:0.0:0.416:0.0	.	285	O14709	ZN197_HUMAN	R	285	ENSP00000345809:K285R;ENSP00000379370:K285R	ENSP00000345809:K285R	K	+	2	0	ZNF197	44658480	0.001000	0.12720	0.450000	0.26969	0.976000	0.68499	-0.205000	0.09411	0.253000	0.21552	0.374000	0.22700	AAA		0.428	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		15	19	0	0	0	1	0	15	19				
TSR1	55720	broad.mit.edu	37	17	2233881	2233881	+	Silent	SNP	G	G	A	rs137952904	byFrequency	TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:2233881G>A	ENST00000301364.5	-	10	2777	c.1698C>T	c.(1696-1698)ccC>ccT	p.P566P	SNORD91A_ENST00000390861.1_RNA|SNORD91B_ENST00000391250.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	566					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCACTGAGACGGGGACTTCAG	0.463																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1696-1698)ccC>ccT		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)		G		0,4406		0,0,2203	73.0	68.0	69.0		1698	0.6	0.8	17	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSR1	NM_018128.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		566/805	2233881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2233881G>A	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1698C>T	17.37:g.2233881G>A							p.P566P	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			10	2777	-			566					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.1698C>T	CCDS32525.1																																																																																				0.463	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		37	8	0	0	0	1	0	37	8				
RYR2	6262	broad.mit.edu	37	1	237580424	237580424	+	Splice_Site	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:237580424G>A	ENST00000366574.2	+	11	1165		c.e11+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGAGTTGCGTAAGTAGAAC	0.448																																						ENST00000366574.2																			1	Unknown(1)	p.?(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e11+1		ryanodine receptor 2 (cardiac)							111.0	109.0	110.0					1																	237580424		2054	4221	6275	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237580424G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.848+1G>A	1.37:g.237580424G>A						RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site		NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		11	1165	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37		CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139705	0.94560	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235647047	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.740000	0.98839	2.835000	0.97688	0.650000	0.86243	.		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	11	27	0	0	0	1	0	11	27				
PHF14	9678	broad.mit.edu	37	7	11091372	11091372	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:11091372C>T	ENST00000403050.3	+	14	2898	c.2446C>T	c.(2446-2448)Cca>Tca	p.P816S	PHF14_ENST00000445996.2_Missense_Mutation_p.P531S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	816					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACAGGATGTGCCACCAGAACC	0.403																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(2446-2448)Cca>Tca		PHD finger protein 14							77.0	75.0	76.0					7																	11091372		1934	4133	6067	SO:0001583	missense	9678						zinc ion binding	g.chr7:11091372C>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2446C>T	7.37:g.11091372C>T	ENSP00000385795:p.Pro816Ser					PHF14_ENST00000445996.2_Missense_Mutation_p.P531S	p.P816S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	14	2898	+			816					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.2446C>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193233	0.38707	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.03301	3.98;3.98	5.3	5.3	0.74995	.	0.168708	0.53938	D	0.000050	T	0.02342	0.0072	N	0.03608	-0.345	0.46954	D	0.99926	B;B;B;B	0.12013	0.0;0.005;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.59010	-0.7534	10	0.35671	T	0.21	.	14.9843	0.71336	0.1431:0.8569:0.0:0.0	.	531;531;816;816	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	S	816;531	ENSP00000385795:P816S;ENSP00000403907:P531S	ENSP00000385795:P816S	P	+	1	0	PHF14	11057897	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	2.632000	0.89209	0.650000	0.86243	CCA		0.403	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		16	26	0	0	0	1	0	16	26				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	130	0	0	0	1	0	4	130				
DHRS7C	201140	broad.mit.edu	37	17	9680518	9680518	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:9680518C>T	ENST00000330255.5	-	4	578	c.566G>A	c.(565-567)cGt>cAt	p.R189H	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R188H	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	189					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.R189L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACAAGTCGTACGGAACGGGAT	0.423																																						ENST00000330255.4																			1	Substitution - Missense(1)	p.R189L(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(565-567)cGt>cAt		dehydrogenase/reductase (SDR family) member 7C							113.0	105.0	108.0					17																	9680518		1899	4119	6018	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9680518C>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.566G>A	17.37:g.9680518C>T	ENSP00000327975:p.Arg189His					DHRS7C_ENST00000571134.1_Missense_Mutation_p.R188H	p.R189H	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			4	578	-			189					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.566G>A	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553866	0.27739	.	.	ENSG00000184544	ENST00000330255	D	0.87491	-2.26	5.05	5.05	0.67936	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.109027	0.64402	D	0.000008	D	0.93648	0.7971	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.914	D	0.94383	0.7606	10	0.87932	D	0	.	17.3376	0.87286	0.0:1.0:0.0:0.0	.	189;185	A6NNS2;B9EJH3	DRS7C_HUMAN;.	H	189	ENSP00000327975:R189H	ENSP00000327975:R189H	R	-	2	0	DHRS7C	9621243	1.000000	0.71417	0.942000	0.38095	0.115000	0.19883	5.461000	0.66699	2.620000	0.88729	0.563000	0.77884	CGT		0.423	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		30	5	0	0	0	1	0	30	5				
OR6F1	343169	broad.mit.edu	37	1	247875657	247875657	+	Missense_Mutation	SNP	G	G	A	rs533401348	byFrequency	TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:247875657G>A	ENST00000302084.2	-	1	448	c.401C>T	c.(400-402)gCc>gTc	p.A134V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A134G(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACTCATGATGGCTCCGTAGTG	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		21100	0.0		0.0	False		,,,				2504	0.002					ENST00000302084.2																			1	Substitution - Missense(1)	p.A134G(1)	lung(1)	breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(400-402)gCc>gTc		olfactory receptor, family 6, subfamily F, member 1							71.0	72.0	71.0					1																	247875657		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875657G>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.401C>T	1.37:g.247875657G>A	ENSP00000305640:p.Ala134Val					RP11-634B7.4_ENST00000449298.1_RNA	p.A134V	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	448	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		134					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.401C>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.262695	0.00262	.	.	ENSG00000169214	ENST00000302084	T	0.01918	4.56	3.99	-1.78	0.07957	GPCR, rhodopsin-like superfamily (1);	1.154770	0.06570	N	0.748374	T	0.01254	0.0041	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48790	-0.9004	10	0.30854	T	0.27	-3.1473	5.413	0.16358	0.2477:0.268:0.4843:0.0	.	134	Q8NGZ6	OR6F1_HUMAN	V	134	ENSP00000305640:A134V	ENSP00000305640:A134V	A	-	2	0	OR6F1	245942280	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.818000	0.04467	-0.467000	0.06932	-0.218000	0.12543	GCC		0.557	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		44	51	0	0	0	1	0	44	51				
CCDC93	54520	broad.mit.edu	37	2	118771546	118771546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:118771546delC	ENST00000376300.2	-	1	163	c.26delG	c.(25-27)ggcfs	p.G9fs	AC009303.1_ENST00000590516.1_RNA|RN7SL111P_ENST00000468841.2_RNA|CCDC93_ENST00000319432.5_Frame_Shift_Del_p.G9fs|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	9										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGACCCTGGCCCTCCGGCCC	0.716																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(25-27)gcfs		coiled-coil domain containing 93							24.0	26.0	25.0					2																	118771546		2200	4295	6495	SO:0001589	frameshift_variant	54520							g.chr2:118771546delC	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.26delG	2.37:g.118771546delC	ENSP00000365477:p.Gly9fs					CCDC93_ENST00000319432.5_Frame_Shift_Del_p.G9fs	p.G9fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			1	163	-			9					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Frame_Shift_Del	DEL	ENST00000376300.2	37	c.26delG	CCDS2121.2																																																																																				0.716	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		2	4						2	4	---	---	---	---
PLEKHB2	55041	broad.mit.edu	37	2	132110683	132110684	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:132110683_132110684delTC	ENST00000404460.1	+	7	568_569	c.514_515delTC	c.(514-516)tctfs	p.S172fs	PLEKHB2_ENST00000303908.3_Frame_Shift_Del_p.S172fs			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	37				Y -> H (in Ref. 1; BAA91379). {ECO:0000305}.		endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TCCCAGCGAATCTCCGATAAGA	0.495																																						ENST00000404460.1																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(514-516)tfs		pleckstrin homology domain containing, family B (evectins) member 2																																				SO:0001589	frameshift_variant	55041					membrane	protein binding	g.chr2:132110683_132110684delTC		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000404460.1:c.514_515delTC	2.37:g.132110685_132110686delTC	ENSP00000385609:p.Ser172fs					PLEKHB2_ENST00000303908.3_Frame_Shift_Del_p.S172fs	p.S172fs			Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	7	568_569	+			0	Y -> H (in Ref. 1; BAA91379).				B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Frame_Shift_Del	DEL	ENST00000404460.1	37	c.514_515delTC																																																																																					0.495	PLEKHB2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318943.2	NM_017958		18	18						18	18	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10065573	10065574	+	5'Flank	INS	-	-	A	rs140644498	byFrequency	TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:10065573_10065574insA	ENST00000419585.1	+	0	0				CIDECP_ENST00000432401.1_RNA|FANCD2_ENST00000287647.3_5'Flank|FANCD2_ENST00000383807.1_5'Flank|FANCD2_ENST00000383806.1_5'Flank			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		gtgaatatactaaaaaaccctg	0.332			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				aaaaaa|AAAAAA|AAAAAAA|insertion	143	0.0285543	0.0	0.0216	5008	,	,		19882	0.0427		0.0358	False		,,,				2504	0.0501					ENST00000432401.1			yes	Rec		Fanconi anaemia D2	3	3p26	2177		"""Fanconi anemia, complementation group D2"""			L					0																																																	SO:0001631	upstream_gene_variant	152302		Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)				g.chr3:10065573_10065574insA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670		3.37:g.10065579_10065579dupA	Exception_encountered													0	317	-								Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	RNA	INS	ENST00000419585.1	37		CCDS33696.1																																																																																				0.332	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			2	4						2	4	---	---	---	---
EQTN	54586	broad.mit.edu	37	9	27297013	27297014	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr9:27297013_27297014insA	ENST00000380032.3	-	1	123_124	c.40_41insT	c.(40-42)tccfs	p.S14fs	EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000537675.1_Frame_Shift_Ins_p.S14fs|EQTN_ENST00000380031.1_Frame_Shift_Ins_p.S14fs	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	14					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											ACTTTTTAAGGAAAAAACTCCA	0.327																																						ENST00000380032.3																			0											c.(40-42)cttfs		equatorin, sperm acrosome associated																																				SO:0001589	frameshift_variant	54586							g.chr9:27297013_27297014insA	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.41dupT	9.37:g.27297019_27297019dupA	ENSP00000369371:p.Ser14fs					EQTN_ENST00000380031.1_Frame_Shift_Ins_p.L14fs|EQTN_ENST00000537675.1_Frame_Shift_Ins_p.L14fs	p.L14fs	NM_020641.2	NP_065692.2					1	123_124	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Frame_Shift_Ins	INS	ENST00000380032.3	37	c.40_41insT	CCDS35001.1																																																																																				0.327	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		20	28						20	28	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	lincRNA	DEL	T	T	-	rs559860539|rs34190287|rs66639120	byFrequency	TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													|||unknown(HR)	1522	0.303914	0.3994	0.2983	5008	,	,		15302	0.2619		0.2346	False		,,,				2504	0.2935					ENST00000597550.1																			0																																																			0							g.chr19:53703995delT																													19.37:g.53703995delT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.473	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			4	2						4	2	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43523873	43523875	+	Intron	DEL	GAG	GAG	-			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr21:43523873_43523875delGAG	ENST00000408910.2	+	9	1299				C21orf128_ENST00000329015.2_In_Frame_Del_p.L120del|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400424.2_Intron|UMODL1_ENST00000400427.1_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTGATTGTAGAGGAGAGAAATG	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000329015.2																			0				lung(4)	4						c.(358-360)del		chromosome 21 open reading frame 128																																				SO:0001627	intron_variant	150147							g.chr21:43523873_43523875delGAG		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1300-103GAG>-	21.37:g.43523876_43523878delGAG						UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron	p.L120del							2	509_511	-								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	In_Frame_Del	DEL	ENST00000408910.2	37	c.358_360delCTC	CCDS42936.1																																																																																				0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	8						5	8	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41000615	41000616	+	Frame_Shift_Ins	INS	-	-	CACCTTA			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:41000615_41000616insCACCTTA	ENST00000324545.8	+	9	1725_1726	c.1092_1093insCACCTTA	c.(1093-1095)gtafs	p.V365fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.V365fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	365					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATATCTAGTGTATCATACTA	0.351																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1090-1095)agtatcfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000615_41000616insCACCTTA	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	Exception_encountered	X.37:g.41000615_41000616insCACCTTA	ENSP00000316357:p.Val365fs					USP9X_ENST00000378308.2_Frame_Shift_Ins_p.I365fs	p.I365fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			9	1725_1726	+			365					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.1092_1093insCACCTTA	CCDS43930.1																																																																																				0.351	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		15	9						15	9	---	---	---	---
