#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
PTPRD	5789	broad.mit.edu	37	9	8454579	8454579	+	Intron	SNP	C	C	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr9:8454579C>A	ENST00000381196.4	-	31	4419				PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000358503.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTATTCCTCACCTGTCGGGTT	0.408										TSP Lung(15;0.13)																												ENST00000355233.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.e18+1		protein tyrosine phosphatase, receptor type, D							89.0	82.0	84.0					9																	8454579		1822	4081	5903	SO:0001627	intron_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8454579C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3876-4742G>T	9.37:g.8454579C>A		TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Intron		NM_130391.3|NM_130392.3|NM_130393.3	NP_569075.2|NP_569076.2|NP_569077.2	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	2760	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)						B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37		CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514225	0.85389	.	.	ENSG00000153707	ENST00000355233;ENST00000397611;ENST00000486161	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0886	0.93217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8444579	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.435000	0.80391	2.517000	0.84864	0.591000	0.81541	.		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	18	1	0	5.18039e-06	0.038147	5.58937e-06	5	18				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	85	0	0	0	0.009096	0	4	85				
WT1-AS	51352	broad.mit.edu	37	11	32460511	32460511	+	RNA	SNP	T	T	C			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:32460511T>C	ENST00000395900.1	+	0	1389				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000494911.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						CGAAGGTGCATAATTATTGCA	0.532																																						ENST00000395900.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6															55.0	55.0	55.0					11																	32460511		2202	4299	6501			0							g.chr11:32460511T>C	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460511T>C						WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA		NR_023920.1						0	1389	+								Q4KMY0|Q96A27	RNA	SNP	ENST00000395900.1	37																																																																																						0.532	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920		3	27	0	0	0	0.009096	0	3	27				
CT45A5	441521	broad.mit.edu	37	X	134947924	134947924	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947924A>T	ENST00000463085.2	-	3	490	c.401T>A	c.(400-402)aTc>aAc	p.I134N	CT45A5_ENST00000491480.1_Missense_Mutation_p.I134N|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000370724.3_Missense_Mutation_p.I134N			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	134										endometrium(1)|large_intestine(2)|lung(6)	9						AAGGCATCGGATTTCCTTCAC	0.378																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(400-402)aTc>aAc		cancer/testis antigen family 45, member A5							204.0	170.0	182.0					X																	134947924		2187	4265	6452	SO:0001583	missense	441521							g.chrX:134947924A>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.401T>A	X.37:g.134947924A>T	ENSP00000424778:p.Ile134Asn					CT45A5_ENST00000491480.1_Missense_Mutation_p.I134N|CT45A4_ENST00000420087.2_Intron	p.I134N	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	645	-			134					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.401T>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865520	0.32977	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.54675	0.56;0.56	2.4	2.4	0.29515	.	0.235442	0.35555	U	0.003128	T	0.52386	0.1731	M	0.73962	2.25	0.09310	N	1	P	0.39022	0.655	B	0.42851	0.4	T	0.51505	-0.8697	10	0.87932	D	0	0.1753	6.0505	0.19783	1.0:0.0:0.0:0.0	.	134	Q6NSH3	CT455_HUMAN	N	134	ENSP00000359759:I134N;ENSP00000425997:I134N	ENSP00000359759:I134N	I	-	2	0	CT45A5	134775590	0.345000	0.24835	0.003000	0.11579	0.003000	0.03518	4.091000	0.57700	0.974000	0.38366	0.299000	0.19835	ATC		0.378	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		35	55	0	0	0	0.059317	0	35	55				
C19orf35	374872	broad.mit.edu	37	19	2278644	2278644	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:2278644T>C	ENST00000342063.3	-	3	644	c.551A>G	c.(550-552)gAc>gGc	p.D184G		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	184										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACAGGGCGTCCCCGCTCTC	0.726																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(550-552)gAc>gGc		chromosome 19 open reading frame 35							22.0	22.0	22.0					19																	2278644		2192	4289	6481	SO:0001583	missense	374872							g.chr19:2278644T>C	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.551A>G	19.37:g.2278644T>C	ENSP00000345102:p.Asp184Gly						p.D184G	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	644	-			184						Missense_Mutation	SNP	ENST00000342063.3	37	c.551A>G	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827991	0.32329	.	.	ENSG00000188305	ENST00000342063	T	0.29655	1.56	4.37	4.37	0.52481	.	.	.	.	.	T	0.46964	0.1420	M	0.72894	2.215	0.30669	N	0.753621	D	0.57257	0.979	P	0.55824	0.785	T	0.54159	-0.8335	9	0.72032	D	0.01	.	10.9441	0.47292	0.0:0.0:0.0:1.0	.	184	Q6ZS72	CS035_HUMAN	G	184	ENSP00000345102:D184G	ENSP00000345102:D184G	D	-	2	0	C19orf35	2229644	0.306000	0.24490	0.356000	0.25785	0.080000	0.17528	2.592000	0.46171	1.597000	0.50072	0.368000	0.22195	GAC		0.726	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		6	9	0	0	0	0.029380	0	6	9				
EIF3F	8665	broad.mit.edu	37	11	8008855	8008855	+	Start_Codon_SNP	SNP	A	A	G			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:8008855A>G	ENST00000537635.1	+	1	419	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	EIF3F_ENST00000309828.4_5'Flank|EIF3F_ENST00000533626.1_5'UTR|EIF3F_ENST00000449102.2_5'Flank					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGATATTCATGAATGCTGT	0.522											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537635.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(1-3)Atg>Gtg		eukaryotic translation initiation factor 3, subunit F							183.0	186.0	185.0					11																	8008855		1665	3617	5282	SO:0001582	initiator_codon_variant	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8008855A>G	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000537635.1:c.1A>G	11.37:g.8008855A>G	ENSP00000442283:p.Met1Val		OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	EIF3F_ENST00000533626.1_5'UTR	p.M1V			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	419	+			0						Translation_Start_Site	SNP	ENST00000537635.1	37	c.1A>G		.	.	.	.	.	.	.	.	.	.	a	2.704	-0.270213	0.05716	.	.	ENSG00000175390	ENST00000537635	T	0.27890	1.64	2.56	-5.11	0.02901	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.21793	-1.0235	6	0.87932	D	0	.	1.9402	0.03345	0.127:0.3393:0.3087:0.225	.	.	.	.	V	1	ENSP00000442283:M1V	ENSP00000442283:M1V	M	+	1	0	EIF3F	7965431	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.910000	0.00091	-3.876000	0.00096	-1.433000	0.01084	ATG		0.522	EIF3F-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003754	Missense_Mutation	90	130	0	0	0	0.139131	0	90	130				
OR2T4	127074	broad.mit.edu	37	1	248525828	248525828	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:248525828G>T	ENST00000366475.1	+	1	946	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACTCCAGTGGTGAACCC	0.463																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(946-948)Gtg>Ttg		olfactory receptor, family 2, subfamily T, member 4							149.0	146.0	147.0					1																	248525828		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525828G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.946G>T	1.37:g.248525828G>T	ENSP00000355431:p.Val316Leu						p.V316L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	946	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		316					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.946G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094662	0.01858	.	.	ENSG00000196944	ENST00000366475	T	0.36699	1.24	3.0	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.173086	0.27442	N	0.019346	T	0.12178	0.0296	N	0.03324	-0.35	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.11941	-1.0567	10	0.23302	T	0.38	.	2.6383	0.04964	0.2801:0.0:0.4854:0.2345	.	316	Q8NH00	OR2T4_HUMAN	L	316	ENSP00000355431:V316L	ENSP00000355431:V316L	V	+	1	0	OR2T4	246592451	0.000000	0.05858	0.988000	0.46212	0.052000	0.14988	-1.318000	0.02705	1.498000	0.48600	0.585000	0.79938	GTG		0.463	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		73	100	1	0	1.356e-25	0.139131	1.54434e-25	73	100				
ZNF384	171017	broad.mit.edu	37	12	6781601	6781601	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:6781601G>A	ENST00000396801.3	-	8	1216	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.R337C|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000396799.2_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	337					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GAGTGGATACGGAGGTGCTGG	0.617			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396801.3				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1009-1011)Cgt>Tgt		zinc finger protein 384							82.0	81.0	81.0					12																	6781601		1568	3582	5150	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6781601G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1009C>T	12.37:g.6781601G>A	ENSP00000380019:p.Arg337Cys					ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.R337C	p.R337C	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN			8	1216	-			337					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1009C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155156	0.78114	.	.	ENSG00000126746	ENST00000396801;ENST00000361959	T;T	0.02472	4.28;4.28	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00619	-1.1641	10	0.87932	D	0	-8.9831	19.4149	0.94690	0.0:0.0:1.0:0.0	.	337	Q8TF68	ZN384_HUMAN	C	337	ENSP00000380019:R337C;ENSP00000354592:R337C	ENSP00000354592:R337C	R	-	1	0	ZNF384	6651862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.676000	0.91093	0.655000	0.94253	CGT		0.617	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			27	36	0	0	0	0.144211	0	27	36				
ILF3	3609	broad.mit.edu	37	19	10798066	10798066	+	Missense_Mutation	SNP	G	G	A	rs200928937	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:10798066G>A	ENST00000590261.1	+	17	2104	c.2104G>A	c.(2104-2106)Ggt>Agt	p.G702S	ILF3_ENST00000449870.1_Missense_Mutation_p.G706S|ILF3_ENST00000318511.3_Missense_Mutation_p.G702S|ILF3_ENST00000588657.1_Missense_Mutation_p.G706S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	702	Interaction with PRMT1.|Poly-Gly.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGCCAGTGGCGGTGGCGGCGG	0.627													G|||	4	0.000798722	0.0	0.0043	5008	,	,		9806	0.0		0.001	False		,,,				2504	0.0					ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2116-2118)Ggt>Agt		interleukin enhancer binding factor 3, 90kDa		G	SER/GLY,SER/GLY	0,3920		0,0,1960	13.0	15.0	14.0		2104,2116	3.5	1.0	19		14	31,7683		1,29,3827	yes	missense,missense	ILF3	NM_012218.3,NM_017620.2	56,56	1,29,5787	AA,AG,GG		0.4019,0.0,0.2665	probably-damaging,probably-damaging	702/895,706/899	10798066	31,11603	1960	3857	5817	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10798066G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2104G>A	19.37:g.10798066G>A	ENSP00000468156:p.Gly702Ser					ILF3_ENST00000318511.3_Missense_Mutation_p.G702S|ILF3_ENST00000590261.1_Missense_Mutation_p.G702S|ILF3_ENST00000588657.1_Missense_Mutation_p.G706S	p.G706S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2433	+			702			Interaction with PRMT1.|Poly-Gly.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2116G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227167	0.39399	0.0	0.004019	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.13538	2.58;2.58	4.59	3.52	0.40303	.	0.501216	0.20763	N	0.086124	T	0.21674	0.0522	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.01316	-1.1387	10	0.38643	T	0.18	.	9.1021	0.36676	0.1169:0.0:0.8831:0.0	.	706;702	G5E9M5;Q12906	.;ILF3_HUMAN	S	706;702	ENSP00000404121:G706S;ENSP00000315205:G702S	ENSP00000315205:G702S	G	+	1	0	ILF3	10659066	0.998000	0.40836	0.988000	0.46212	0.947000	0.59692	3.246000	0.51414	1.061000	0.40601	0.655000	0.94253	GGT		0.627	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	16	0	0	0	0.009096	0	4	16				
GABRE	2564	broad.mit.edu	37	X	151138777	151138777	+	Missense_Mutation	SNP	C	C	T	rs61730040	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:151138777C>T	ENST00000370328.3	-	2	207	c.154G>A	c.(154-156)Gag>Aag	p.E52K	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.E52K	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	52					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E52K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGTTTCCTCAGAGAGGAGC	0.507													c|||	7	0.0018543	0.0	0.0014	3775	,	,		13801	0.0		0.004	False		,,,				2504	0.002					ENST00000370325.1																			1	Substitution - Missense(1)	p.E52K(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(154-156)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, epsilon			LYS/GLU	0,3835		0,0,0,1632,571	138.0	129.0	132.0		154	3.2	0.0	X	dbSNP_129	132	50,6678		0,32,18,2396,1854	yes	missense	GABRE	NM_004961.3	56	0,32,18,4028,2425	TT,TC,T,CC,C		0.7432,0.0,0.4734	benign	52/507	151138777	50,10513	2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138777C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.154G>A	X.37:g.151138777C>T	ENSP00000359353:p.Glu52Lys					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E52K	p.E52K			P78334	GBRE_HUMAN			2	207	-	Acute lymphoblastic leukemia(192;6.56e-05)		52					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.154G>A	CCDS14703.1	3	0.0018083182640144665	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	c	12.03	1.814300	0.32053	0.0	0.007432	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.78816	-1.21;-0.62	4.11	3.23	0.37069	.	.	.	.	.	T	0.48554	0.1506	N	0.08118	0	0.23144	N	0.998228	B	0.17038	0.02	B	0.12156	0.007	T	0.43782	-0.9370	9	0.45353	T	0.12	.	6.232	0.20740	0.0:0.8602:0.0:0.1398	.	52	P78334	GBRE_HUMAN	K	52	ENSP00000359353:E52K;ENSP00000359350:E52K	ENSP00000359350:E52K	E	-	1	0	GABRE	150889433	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.070000	0.11523	1.053000	0.40415	0.597000	0.82753	GAG		0.507	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		7	170	0	0	0	0.038147	0	7	170				
XRN1	54464	broad.mit.edu	37	3	142031581	142031581	+	Silent	SNP	C	C	T	rs534878384		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:142031581C>T	ENST00000264951.4	-	41	4794	c.4677G>A	c.(4675-4677)tcG>tcA	p.S1559S	XRN1_ENST00000392981.2_Silent_p.S1547S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1559					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGAGATGAGACGACGAAGGCA	0.443													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15030	0.0		0.0	False		,,,				2504	0.0					ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(4675-4677)tcG>tcA		5'-3' exoribonuclease 1							118.0	122.0	121.0					3																	142031581		2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142031581C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4677G>A	3.37:g.142031581C>T						XRN1_ENST00000392981.2_Silent_p.S1547S	p.S1559S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			41	4794	-			1559					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.4677G>A	CCDS3123.1																																																																																				0.443	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	120	0	0	0	0.014758	0	5	120				
PPP4R1	9989	broad.mit.edu	37	18	9588150	9588150	+	Silent	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:9588150G>A	ENST00000400556.3	-	6	595	c.522C>T	c.(520-522)tgC>tgT	p.C174C	RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000400555.3_Silent_p.C157C|PPP4R1_ENST00000580583.1_5'UTR	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	174					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TGAGGACAGGGCACACTTTGG	0.448																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(520-522)tgC>tgT		protein phosphatase 4, regulatory subunit 1							70.0	66.0	67.0					18																	9588150		1968	4170	6138	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9588150G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.522C>T	18.37:g.9588150G>A						PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.C157C|RP11-881L2.1_ENST00000584109.1_RNA	p.C174C	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			6	595	-			174					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.522C>T	CCDS42412.1																																																																																				0.448	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		3	32	0	0	0	0.115264	0	3	32				
OR4A5	81318	broad.mit.edu	37	11	51411842	51411842	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:51411842G>A	ENST00000319760.6	-	1	606	c.554C>T	c.(553-555)gCa>gTa	p.A185V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTCAGTGCATGCCAGTTCCAG	0.423																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(553-555)gCa>gTa		olfactory receptor, family 4, subfamily A, member 5							64.0	56.0	59.0					11																	51411842		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411842G>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.554C>T	11.37:g.51411842G>A	ENSP00000367664:p.Ala185Val						p.A185V	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	606	-		all_lung(304;0.236)	185					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.554C>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	1.278	-0.611133	0.03690	.	.	ENSG00000221840	ENST00000319760	T	0.00183	8.6	1.93	-0.111	0.13576	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.00210	0.0006	L	0.61036	1.89	0.09310	N	1	B	0.18013	0.025	B	0.30782	0.12	T	0.36237	-0.9756	10	0.40728	T	0.16	.	5.9532	0.19259	0.3154:0.0:0.6846:0.0	.	185	Q8NH83	OR4A5_HUMAN	V	185	ENSP00000367664:A185V	ENSP00000367664:A185V	A	-	2	0	OR4A5	51268418	0.003000	0.15002	0.325000	0.25375	0.035000	0.12851	1.327000	0.33746	-0.017000	0.14103	0.162000	0.16502	GCA		0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		14	12	0	0	0	0.119110	0	14	12				
RSRC2	65117	broad.mit.edu	37	12	123001975	123001975	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:123001975C>T	ENST00000331738.7	-	5	546	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RSRC2_ENST00000354654.2_Missense_Mutation_p.R86H	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	134	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ACTACGATGGCGTCTGAAATT	0.398																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(400-402)cGc>cAc		arginine/serine-rich coiled-coil 2							74.0	69.0	71.0					12																	123001975		2203	4300	6503	SO:0001583	missense	65117							g.chr12:123001975C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.401G>A	12.37:g.123001975C>T	ENSP00000330188:p.Arg134His					RSRC2_ENST00000354654.2_Missense_Mutation_p.R86H	p.R134H	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	5	546	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		134			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.401G>A	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961886|3.961886	0.74016|0.74016	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.55588|0.27256	0.51|1.68;1.68;1.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.366154	.|0.31989	.|N	.|0.006759	T|T	0.36138|0.36138	0.0956|0.0956	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.69078	.|0.997;0.997;0.997;0.997	.|D;D;D;D	.|0.74674	.|0.984;0.923;0.984;0.923	T|T	0.41502|0.41502	-0.9505|-0.9505	7|10	0.87932|0.72032	D|D	0|0.01	.|.	18.8274|18.8274	0.92124|0.92124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;86;134;75	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	T|H	28|134;86;134;75	ENSP00000446470:A28T|ENSP00000330188:R134H;ENSP00000346678:R86H;ENSP00000343315:R75H	ENSP00000446470:A28T|ENSP00000330188:R134H	A|R	-|-	1|2	0|0	RSRC2|RSRC2	121567928|121567928	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.927000|0.927000	0.56198|0.56198	6.411000|6.411000	0.73298|0.73298	2.528000|2.528000	0.85240|0.85240	0.558000|0.558000	0.71614|0.71614	GCC|CGC		0.398	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		3	28	0	0	0	0.115264	0	3	28				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(373-375)acT>acC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	771	+			125					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	37	0	0	0	0.115264	0	3	37				
RNF7	9616	broad.mit.edu	37	3	141462360	141462360	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:141462360T>G	ENST00000273480.3	+	2	323	c.185T>G	c.(184-186)cTt>cGt	p.L62R	RNF7_ENST00000480908.1_Intron|RNF7_ENST00000393000.3_Missense_Mutation_p.L60V	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	62					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GATGCCTGTCTTAGATGTCAA	0.358																																						ENST00000273480.3																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(184-186)cTt>cGt		ring finger protein 7							254.0	243.0	247.0					3																	141462360		2203	4300	6503	SO:0001583	missense	9616				anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding	g.chr3:141462360T>G	AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"""RING-type (C3HC4) zinc fingers"""	10070	protein-coding gene	gene with protein product	"""sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"""	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.185T>G	3.37:g.141462360T>G	ENSP00000273480:p.Leu62Arg					RNF7_ENST00000480908.1_Intron|RNF7_ENST00000393000.3_Missense_Mutation_p.L60V	p.L62R	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN			2	323	+			62					A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Missense_Mutation	SNP	ENST00000273480.3	37	c.185T>G	CCDS3118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.09|17.09	3.299787|3.299787	0.60195|0.60195	.|.	.|.	ENSG00000114125|ENSG00000114125	ENST00000273480|ENST00000393000	T|.	0.46063|.	0.88|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.42200|0.42200	0.1192|0.1192	.|.	.|.	.|.	0.22947|0.22947	N|N	0.998528|0.998528	D|B	0.89917|0.22683	1.0|0.073	D|B	0.78314|0.24394	0.991|0.053	T|T	0.35847|0.35847	-0.9772|-0.9772	9|8	0.87932|0.45353	D|T	0|0.12	.|.	16.3782|16.3782	0.83418|0.83418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	62|60	Q9UBF6|Q9UBF6-3	RBX2_HUMAN|.	R|V	62|60	ENSP00000273480:L62R|.	ENSP00000273480:L62R|ENSP00000376725:L60V	L|L	+|+	2|1	0|2	RNF7|RNF7	142945050|142945050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.804000|6.804000	0.75186|0.75186	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	CTT|TTA		0.358	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280602.1	NM_014245		23	54	0	0	0	0.083992	0	23	54				
SMG6	23293	broad.mit.edu	37	17	2203563	2203563	+	Silent	SNP	G	G	T	rs200691961		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:2203563G>T	ENST00000263073.6	-	2	534	c.484C>A	c.(484-486)Cgg>Agg	p.R162R	SMG6_ENST00000544865.1_Silent_p.R131R	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	162	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTCCACCCGACTGGCGGAT	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(391-393)Cgg>Agg		SMG6 nonsense mediated mRNA decay factor							156.0	170.0	165.0					17																	2203563		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203563G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.484C>A	17.37:g.2203563G>T						SMG6_ENST00000263073.5_Silent_p.R162R	p.R131R			Q86US8	EST1A_HUMAN			2	901	-			162			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.391C>A	CCDS11016.1																																																																																				0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			9	211	1	0	1.12685e-05	0.047766	1.18464e-05	9	211				
TTK	7272	broad.mit.edu	37	6	80715612	80715612	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr6:80715612A>G	ENST00000369798.2	+	2	163	c.52A>G	c.(52-54)Aac>Gac	p.N18D	TTK_ENST00000230510.3_Missense_Mutation_p.N18D|TTK_ENST00000509894.1_Missense_Mutation_p.N18D	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	18					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTCCATAATGAACAAAGTGAG	0.313																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(52-54)Aac>Gac		TTK protein kinase							81.0	86.0	85.0					6																	80715612		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80715612A>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.52A>G	6.37:g.80715612A>G	ENSP00000358813:p.Asn18Asp					TTK_ENST00000369798.2_Missense_Mutation_p.N18D|TTK_ENST00000230510.3_Missense_Mutation_p.N18D	p.N18D			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	2	881	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	18					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.52A>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801807	0.31869	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.84	4.84	0.62591	.	0.272821	0.42053	D	0.000780	T	0.68577	0.3016	L	0.34521	1.04	0.23325	N	0.997908	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.55617	-0.8113	10	0.24483	T	0.36	.	8.357	0.32335	0.9121:0.0:0.0879:0.0	.	18;18	P33981;A8K8U5	TTK_HUMAN;.	D	18	ENSP00000422936:N18D;ENSP00000230510:N18D;ENSP00000358813:N18D;ENSP00000424851:N18D;ENSP00000421636:N18D;ENSP00000427483:N18D	ENSP00000230510:N18D	N	+	1	0	TTK	80772331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.701000	0.54793	1.817000	0.53016	0.379000	0.24179	AAC		0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			7	56	0	0	0	0.047766	0	7	56				
CCNT1	904	broad.mit.edu	37	12	49087741	49087741	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:49087741G>T	ENST00000261900.3	-	9	1478	c.1256C>A	c.(1255-1257)gCa>gAa	p.A419E		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	419					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGCAGCATATGCATATTGTGA	0.463																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1255-1257)gCa>gAa		cyclin T1							150.0	156.0	154.0					12																	49087741		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087741G>T	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1256C>A	12.37:g.49087741G>T	ENSP00000261900:p.Ala419Glu						p.A419E	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1478	-			419					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1256C>A	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105726	0.77096	.	.	ENSG00000129315	ENST00000261900	T	0.19669	2.13	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.01894	-1.1252	10	0.22706	T	0.39	-10.7242	18.0305	0.89282	0.0:0.0:1.0:0.0	.	419	O60563	CCNT1_HUMAN	E	419	ENSP00000261900:A419E	ENSP00000261900:A419E	A	-	2	0	CCNT1	47374008	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	9.594000	0.98254	2.634000	0.89283	0.561000	0.74099	GCA		0.463	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		81	102	1	0	3.20846e-33	0.139131	3.75849e-33	81	102				
KRT35	3886	broad.mit.edu	37	17	39635994	39635994	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:39635994C>T	ENST00000393989.1	-	2	553	c.511G>A	c.(511-513)Gag>Aag	p.E171K	KRT35_ENST00000246639.2_Missense_Mutation_p.E141K	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	171	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TTGTCAATCTCCACCACCAGC	0.488																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(421-423)Gag>Aag		keratin 35							186.0	187.0	187.0					17																	39635994		2203	4300	6503	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635994C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.511G>A	17.37:g.39635994C>T	ENSP00000377558:p.Glu171Lys					KRT35_ENST00000393989.1_Missense_Mutation_p.E171K	p.E141K			Q92764	KRT35_HUMAN			2	553	-		Breast(137;0.000286)	171			Linker 1.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.421G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836446	0.50951	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.90324	-2.65;-2.65	5.1	4.13	0.48395	Filament (1);	0.124173	0.36893	N	0.002359	D	0.88097	0.6345	M	0.64170	1.965	0.24401	N	0.994703	B	0.11235	0.004	B	0.12837	0.008	T	0.81765	-0.0783	10	0.87932	D	0	.	10.2721	0.43489	0.0:0.2832:0.5815:0.1353	.	171	Q92764	KRT35_HUMAN	K	141;171	ENSP00000246639:E141K;ENSP00000377558:E171K	ENSP00000246639:E141K	E	-	1	0	KRT35	36889520	0.005000	0.15991	1.000000	0.80357	0.982000	0.71751	-0.024000	0.12435	1.366000	0.46076	-0.165000	0.13383	GAG		0.488	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		20	146	0	0	0	0.055883	0	20	146				
DSC3	1825	broad.mit.edu	37	18	28602425	28602425	+	Silent	SNP	C	C	T	rs374250811		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:28602425C>T	ENST00000360428.4	-	7	899	c.819G>A	c.(817-819)ccG>ccA	p.P273P	DSC3_ENST00000434452.1_Silent_p.P273P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	273	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTGTGTCCGGTTCATCTC	0.438																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(817-819)ccG>ccA		desmocollin 3		C	,	1,4405	2.1+/-5.4	0,1,2202	149.0	128.0	135.0		819,819	-9.8	0.0	18		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSC3	NM_001941.3,NM_024423.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	273/897,273/840	28602425	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602425C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.819G>A	18.37:g.28602425C>T						DSC3_ENST00000360428.4_Silent_p.P273P	p.P273P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	973	-			273			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.819G>A	CCDS32810.1																																																																																				0.438	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		22	34	0	0	0	0.083992	0	22	34				
TMEM53	79639	broad.mit.edu	37	1	45120353	45120353	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:45120353G>A	ENST00000372237.3	-	3	875	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R208C|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	238						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGGACCCGGCGTGCCAGGCGT	0.602																																						ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(712-714)Cgc>Tgc		transmembrane protein 53							95.0	106.0	102.0					1																	45120353		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120353G>A		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.712C>T	1.37:g.45120353G>A	ENSP00000361311:p.Arg238Cys					TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.R208C|TMEM53_ENST00000372244.3_Intron	p.R238C	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	875	-	Acute lymphoblastic leukemia(166;0.155)		238					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.712C>T	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171698	0.38315	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.54	5.54	0.83059	.	0.486297	0.24793	N	0.035551	T	0.56920	0.2018	L	0.38838	1.175	0.50632	D	0.999881	B	0.17852	0.024	B	0.12156	0.007	T	0.52305	-0.8593	9	0.52906	T	0.07	.	19.4772	0.94994	0.0:0.0:1.0:0.0	.	238	Q6P2H8	TMM53_HUMAN	C	238;208	.	ENSP00000361309:R208C	R	-	1	0	TMEM53	44892940	1.000000	0.71417	0.870000	0.34147	0.473000	0.32948	6.039000	0.70972	2.602000	0.87976	0.563000	0.77884	CGC		0.602	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		31	48	0	0	0	0.054565	0	31	48				
FAM187B	148109	broad.mit.edu	37	19	35719205	35719205	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:35719205G>A	ENST00000324675.3	-	1	427	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	127						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCTGCAGGGGCCTCTGACCC	0.562																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(379-381)Ccc>Tcc		family with sequence similarity 187, member B							113.0	107.0	109.0					19																	35719205		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719205G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.379C>T	19.37:g.35719205G>A	ENSP00000323355:p.Pro127Ser						p.P127S	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	427	-			127					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.379C>T	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528018	0.64860	.	.	ENSG00000177558	ENST00000324675	T	0.28666	1.6	5.26	2.91	0.33838	.	0.000000	0.49916	D	0.000121	T	0.49150	0.1540	M	0.66939	2.045	0.36347	D	0.859828	D	0.76494	0.999	D	0.68765	0.96	T	0.60870	-0.7177	10	0.59425	D	0.04	-42.912	11.4746	0.50291	0.0:0.3513:0.6487:0.0	.	127	Q17R55	F187B_HUMAN	S	127	ENSP00000323355:P127S	ENSP00000323355:P127S	P	-	1	0	FAM187B	40411045	0.979000	0.34478	0.863000	0.33907	0.021000	0.10359	1.948000	0.40303	1.308000	0.44962	0.655000	0.94253	CCC		0.562	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		48	72	0	0	0	0.139131	0	48	72				
OR4C3	256144	broad.mit.edu	37	11	48347139	48347139	+	Missense_Mutation	SNP	A	A	G	rs386753296		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:48347139A>G	ENST00000319856.4	+	1	668	c.647A>G	c.(646-648)aAt>aGt	p.N216S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCTGCACCAATACGTATGTC	0.507																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(646-648)aAt>aGt		olfactory receptor, family 4, subfamily C, member 3							224.0	164.0	184.0					11																	48347139		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347139A>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.647A>G	11.37:g.48347139A>G	ENSP00000321419:p.Asn216Ser						p.N216S	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	668	+			189					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.647A>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560907	0.27827	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00091	8.74	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.901795	0.09503	N	0.793384	T	0.00178	0.0005	L	0.28192	0.835	0.26075	N	0.981161	B	0.23058	0.079	B	0.32928	0.155	T	0.57112	-0.7867	10	0.87932	D	0	.	14.2031	0.65716	1.0:0.0:0.0:0.0	.	189	Q8NH37	OR4C3_HUMAN	S	216;79	ENSP00000321419:N216S	ENSP00000321419:N216S	N	+	2	0	OR4C3	48303715	0.405000	0.25336	0.742000	0.31022	0.051000	0.14879	5.005000	0.63972	2.245000	0.73994	0.391000	0.25812	AAT		0.507	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		10	37	0	0	0	0.069234	0	10	37				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	33	0	0	0	0.009096	0	3	33				
DUSP11	8446	broad.mit.edu	37	2	74007136	74007136	+	Missense_Mutation	SNP	T	T	C	rs2272051	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr2:74007136T>C	ENST00000272444.3	-	1	148	c.107A>G	c.(106-108)gAc>gGc	p.D36G	DUSP11_ENST00000377706.4_5'UTR|DUSP11_ENST00000443070.1_Missense_Mutation_p.D36G|DUSP11_ENST00000480948.1_5'Flank	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	0					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CAATGCCAAGTCGGCCAAAAG	0.622											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3053	0.609625	0.4259	0.5965	5008	,	,		18120	0.7014		0.6918	False		,,,				2504	0.6881					ENST00000443070.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(106-108)gAc>gGc		dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)		C	GLY/ASP	2126,2280	596.6+/-388.7	533,1060,610	38.0	43.0	41.0		107	1.3	0.0	2	dbSNP_100	41	5687,2913	452.3+/-362.9	1873,1941,486	yes	missense	DUSP11	NM_003584.2	94	2406,3001,1096	CC,CT,TT		33.8721,48.2524,39.9277	benign	36/378	74007136	7813,5193	2203	4300	6503	SO:0001583	missense	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74007136T>C	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.107A>G	2.37:g.74007136T>C	ENSP00000272444:p.Asp36Gly		OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	DUSP11_ENST00000377706.4_5'UTR|DUSP11_ENST00000272444.3_Missense_Mutation_p.D36G	p.D36G			O75319	DUS11_HUMAN			1	112	-			0					B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	c.107A>G	CCDS1928.2	1357	0.6213369963369964	219	0.4451219512195122	226	0.6243093922651933	392	0.6853146853146853	520	0.6860158311345647	C	0.559	-0.846114	0.02671	0.482524	0.661279	ENSG00000144048	ENST00000272444;ENST00000443070	T	0.37584	1.19	4.6	1.32	0.21799	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.51767	P	7.00000000000145E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.37174	-0.9717	8	0.13470	T	0.59	.	2.9748	0.05934	0.2587:0.5096:0.1147:0.117	rs2272051;rs17524087;rs58374818;rs2272051	36	C9JYA6	.	G	36	ENSP00000413444:D36G	ENSP00000272444:D36G	D	-	2	0	DUSP11	73860644	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.076000	0.14712	0.016000	0.14998	-0.812000	0.03155	GAC		0.622	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			4	28	0	0	0	0.009096	0	4	28				
CT45A5	441521	broad.mit.edu	37	X	134947928	134947928	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947928C>G	ENST00000463085.2	-	3	486	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	CT45A5_ENST00000491480.1_Missense_Mutation_p.E133Q|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000370724.3_Missense_Mutation_p.E133Q			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	133								p.E133*(1)		endometrium(1)|large_intestine(2)|lung(6)	9						CATCGGATTTCCTTCACTACT	0.388																																						ENST00000370724.3																			1	Substitution - Nonsense(1)	p.E133*(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(6)	9						c.(397-399)Gaa>Caa		cancer/testis antigen family 45, member A5							209.0	174.0	186.0					X																	134947928		2188	4266	6454	SO:0001583	missense	441521							g.chrX:134947928C>G	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.397G>C	X.37:g.134947928C>G	ENSP00000424778:p.Glu133Gln					CT45A5_ENST00000491480.1_Missense_Mutation_p.E133Q|CT45A4_ENST00000420087.2_Intron	p.E133Q	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	641	-			133					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.397G>C	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788780	0.31685	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.62105	0.05;0.05	2.4	1.46	0.22682	.	0.000000	0.85682	U	0.000000	T	0.74152	0.3679	M	0.80332	2.49	0.09310	N	1	D	0.67145	0.996	D	0.75484	0.986	T	0.63042	-0.6725	10	0.87932	D	0	-3.4548	5.7026	0.17891	0.3195:0.6805:0.0:0.0	.	133	Q6NSH3	CT455_HUMAN	Q	133	ENSP00000359759:E133Q;ENSP00000425997:E133Q	ENSP00000359759:E133Q	E	-	1	0	CT45A5	134775594	0.998000	0.40836	0.013000	0.15412	0.005000	0.04900	2.054000	0.41335	0.206000	0.20587	0.365000	0.22127	GAA		0.388	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		35	57	0	0	0	0.054565	0	35	57				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	27	0	0	0	0.091800	0	24	27				
TTC39C	125488	broad.mit.edu	37	18	21660663	21660663	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:21660663T>A	ENST00000317571.3	+	5	811	c.575T>A	c.(574-576)tTg>tAg	p.L192*	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.L131*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	192										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAAGAGTCCTTGACTTCTGAT	0.448																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(574-576)tTg>tAg		tetratricopeptide repeat domain 39C							136.0	130.0	132.0					18																	21660663		2203	4300	6503	SO:0001587	stop_gained	125488						binding	g.chr18:21660663T>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.575T>A	18.37:g.21660663T>A	ENSP00000323645:p.Leu192*					RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.L131*|TTC39C_ENST00000578150.1_3'UTR	p.L192*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			5	811	+			192					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Nonsense_Mutation	SNP	ENST00000317571.3	37	c.575T>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	t	34	5.359971	0.95877	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	.	.	.	5.2	4.03	0.46877	.	0.595344	0.16935	N	0.193507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9486	10.1785	0.42952	0.0:0.0772:0.0:0.9228	.	.	.	.	X	131;192	.	ENSP00000306598:L131X	L	+	2	0	TTC39C	19914661	1.000000	0.71417	0.977000	0.42913	0.924000	0.55760	3.312000	0.51927	1.069000	0.40788	0.451000	0.29950	TTG		0.448	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		24	44	0	0	0	0.083992	0	24	44				
KMT2E	55904	broad.mit.edu	37	7	104742494	104742495	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr7:104742494_104742495insA	ENST00000311117.3	+	17	2594_2595	c.2049_2050insA	c.(2050-2052)atafs	p.I684fs	KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.I684fs|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.I684fs|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	684					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTTCTCCTGATATAGAAGTTAC	0.381																																						ENST00000334877.4																			0											c.(2047-2052)gatagafs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104742494_104742495insA	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2050dupA	7.37:g.104742495_104742495dupA	ENSP00000312379:p.Ile684fs					KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.DR683fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.DR683fs	p.DR683fs							17	2583_2584	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Ins	INS	ENST00000311117.3	37	c.2049_2050insA	CCDS34723.1																																																																																				0.381	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			13	69						13	69	---	---	---	---
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Intron	DEL	G	G	-	rs540646391	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:67209168delG	ENST00000341356.5	-	4	565				CORO1B_ENST00000545016.1_Frame_Shift_Del_p.H164fs|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													|||unknown(HR)	9	0.00179712	0.0061	0.0014	5008	,	,		10135	0.0		0.0	False		,,,				2504	0.0					ENST00000545016.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(490-492)acfs		coronin, actin binding protein, 1B			,	246,718,2802		22,17,185,55,591,1013					,	-0.5	0.0			7	285,1558,5707		17,8,243,90,1370,2047	no	intron,intron	CORO1B	NM_020441.2,NM_001018070.2	,	39,25,428,145,1961,3060	A1A1,A1A2,A1R,A2A2,A2R,RR		24.4106,25.5975,24.8056	,	,		531,2276,8509				SO:0001627	intron_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209168delG	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.454+35C>-	11.37:g.67209168delG						CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000453768.2_Intron	p.H164fs			Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		4	575	-			0					B2RD45	Frame_Shift_Del	DEL	ENST00000341356.5	37	c.490delC	CCDS8164.1																																																																																				0.657	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		3	4						3	4	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28913367	28913367	+	RNA	DEL	T	T	-			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr15:28913367delT	ENST00000528584.1	+	0	1224					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TGAGTTCTCCTTTTTTTTTTT	0.308																																						ENST00000528584.1																			0																																																			0							g.chr15:28913367delT	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28913367delT								NR_036443.1						0	1224	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.308	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		2	4						2	4	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	2						4	2	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	8						4	8	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	106016280	106016281	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:106016280_106016281insT	ENST00000255499.2	+	2	872_873	c.622_623insT	c.(622-624)attfs	p.I208fs	RNF128_ENST00000324342.3_Frame_Shift_Ins_p.I182fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	208					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCACTATTCAATTTTTTTCGTT	0.391																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(622-624)tttfs		ring finger protein 128, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016280_106016281insT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.629dupT	X.37:g.106016287_106016287dupT	ENSP00000255499:p.Ile208fs					RNF128_ENST00000324342.3_Frame_Shift_Ins_p.F182fs	p.F208fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	872_873	+			208					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Ins	INS	ENST00000255499.2	37	c.622_623insT	CCDS14521.1																																																																																				0.391	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		49	90						49	90	---	---	---	---
